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.126690837_126696452del | CA1139768478 | LMX1B | c.328_*1del c.259_*1del | |
| 9 | g.126693148G>A | CA374913029 | LMX1B | c.566G>A (p.Ser189Asn) c.497G>A (p.Ser166Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693148G>C | CA374913030 | LMX1B | c.566G>C (p.Ser189Thr) c.497G>C (p.Ser166Thr) | |
| 9 | g.126693148G= | CA1879478390 | LMX1B | c.566G= (p.Ser189=) c.497G= (p.Ser166=) | |
| 9 | g.126693148G>T | CA374913031 | LMX1B | c.566G>T (p.Ser189Ile) c.497G>T (p.Ser166Ile) | gnomAD v4 |
| 9 | g.126693149C>A | CA374913032 | LMX1B | c.567C>A (p.Ser189Arg) c.498C>A (p.Ser166Arg) | gnomAD v4 |
| 9 | g.126693149C= | CA1879478394 | LMX1B | c.567C= (p.Ser189=) c.498C= (p.Ser166=) | |
| 9 | g.126693149C>G | CA374913033 | LMX1B | c.567C>G (p.Ser189Arg) c.498C>G (p.Ser166Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126693149C>T | CA199812926 | LMX1B | c.567C>T (p.Ser189=) c.498C>T (p.Ser166=) | dbSNP gnomAD v4 |
| 9 | g.126693150G>A | CA5242365 | LMX1B | c.568G>A (p.Glu190Lys) c.499G>A (p.Glu167Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693150G>C | CA374913035 | LMX1B | c.568G>C (p.Glu190Gln) c.499G>C (p.Glu167Gln) | |
| 9 | g.126693150G= | CA1879478398 | LMX1B | c.568G= (p.Glu190=) c.499G= (p.Glu167=) | |
| 9 | g.126693150G>T | CA374913034 | LMX1B | c.568G>T (p.Glu190Ter) c.499G>T (p.Glu167Ter) | gnomAD v4 |
| 9 | g.126693151A>C | CA374913036 | LMX1B | c.569A>C (p.Glu190Ala) c.500A>C (p.Glu167Ala) | |
| 9 | g.126693151A>G | CA374913038 | LMX1B | c.569A>G (p.Glu190Gly) c.500A>G (p.Glu167Gly) | |
| 9 | g.126693151A>T | CA374913037 | LMX1B | c.569A>T (p.Glu190Val) c.500A>T (p.Glu167Val) | |
| 9 | g.126693152G>A | CA5242366 | LMX1B | c.570G>A (p.Glu190=) c.501G>A (p.Glu167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693152G>C | CA374913040 | LMX1B | c.570G>C (p.Glu190Asp) c.501G>C (p.Glu167Asp) | |
| 9 | g.126693152G= | CA1879478401 | LMX1B | c.570G= (p.Glu190=) c.501G= (p.Glu167=) | |
| 9 | g.126693152G>T | CA374913039 | LMX1B | c.570G>T (p.Glu190Asp) c.501G>T (p.Glu167Asp) | gnomAD v4 |
| 9 | g.126693153G>A | CA374913041 | LMX1B | c.571G>A (p.Asp191Asn) c.502G>A (p.Asp168Asn) | |
| 9 | g.126693153G>C | CA374913042 | LMX1B | c.571G>C (p.Asp191His) c.502G>C (p.Asp168His) | |
| 9 | g.126693153G>T | CA374913043 | LMX1B | c.571G>T (p.Asp191Tyr) c.502G>T (p.Asp168Tyr) | gnomAD v4 COSMIC |
| 9 | g.126693154A>C | CA374913044 | LMX1B | c.572A>C (p.Asp191Ala) c.503A>C (p.Asp168Ala) | |
| 9 | g.126693154A>G | CA374913045 | LMX1B | c.572A>G (p.Asp191Gly) c.503A>G (p.Asp168Gly) | |
| 9 | g.126693154A>T | CA374913046 | LMX1B | c.572A>T (p.Asp191Val) c.503A>T (p.Asp168Val) | |
| 9 | g.126693155T>A | CA374913047 | LMX1B | c.573T>A (p.Asp191Glu) c.504T>A (p.Asp168Glu) | |
| 9 | g.126693155T>C | CA467136484 | LMX1B | c.573T>C (p.Asp191=) c.504T>C (p.Asp168=) | |
| 9 | g.126693155T>G | CA374913048 | LMX1B | c.573T>G (p.Asp191Glu) c.504T>G (p.Asp168Glu) | |
| 9 | g.126693156G>A | CA374913049 | LMX1B | c.574G>A (p.Glu192Lys) c.505G>A (p.Glu169Lys) | gnomAD v4 |
| 9 | g.126693156G>C | CA374913050 | LMX1B | c.574G>C (p.Glu192Gln) c.505G>C (p.Glu169Gln) | |
| 9 | g.126693156G>T | CA374913051 | LMX1B | c.574G>T (p.Glu192Ter) c.505G>T (p.Glu169Ter) | gnomAD v4 |
| 9 | g.126693157A= | CA1879478404 | LMX1B | c.575A= (p.Glu192=) c.506A= (p.Glu169=) | |
| 9 | g.126693157A>C | CA374913052 | LMX1B | c.575A>C (p.Glu192Ala) c.506A>C (p.Glu169Ala) | |
| 9 | g.126693157A>G | CA374913053 | LMX1B | c.575A>G (p.Glu192Gly) c.506A>G (p.Glu169Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693157A>T | CA374913054 | LMX1B | c.575A>T (p.Glu192Val) c.506A>T (p.Glu169Val) | |
| 9 | g.126693158A>C | CA374913056 | LMX1B | c.576A>C (p.Glu192Asp) c.507A>C (p.Glu169Asp) | |
| 9 | g.126693158A>G | CA467136485 | LMX1B | c.576A>G (p.Glu192=) c.507A>G (p.Glu169=) | gnomAD v4 |
| 9 | g.126693158A>T | CA374913055 | LMX1B | c.576A>T (p.Glu192Asp) c.507A>T (p.Glu169Asp) | |
| 9 | g.126693159G>A | CA374913057 | LMX1B | c.577G>A (p.Asp193Asn) c.508G>A (p.Asp170Asn) | dbSNP gnomAD v2 |
| 9 | g.126693159G>C | CA374913058 | LMX1B | c.577G>C (p.Asp193His) c.508G>C (p.Asp170His) | |
| 9 | g.126693159G= | CA1879478408 | LMX1B | c.577G= (p.Asp193=) c.508G= (p.Asp170=) | |
| 9 | g.126693159G>T | CA374913059 | LMX1B | c.577G>T (p.Asp193Tyr) c.508G>T (p.Asp170Tyr) | gnomAD v4 |
| 9 | g.126693160A>C | CA374913060 | LMX1B | c.578A>C (p.Asp193Ala) c.509A>C (p.Asp170Ala) | |
| 9 | g.126693160A>G | CA374913061 | LMX1B | c.578A>G (p.Asp193Gly) c.509A>G (p.Asp170Gly) | |
| 9 | g.126693160A>T | CA374913062 | LMX1B | c.578A>T (p.Asp193Val) c.509A>T (p.Asp170Val) | gnomAD v4 |
| 9 | g.126693161T>A | CA374913064 | LMX1B | c.579T>A (p.Asp193Glu) c.510T>A (p.Asp170Glu) | |
| 9 | g.126693161T>C | CA467136486 | LMX1B | c.579T>C (p.Asp193=) c.510T>C (p.Asp170=) | |
| 9 | g.126693161T>G | CA374913063 | LMX1B | c.579T>G (p.Asp193Glu) c.510T>G (p.Asp170Glu) | |
| 9 | g.126693162G>A | CA374913065 | LMX1B | c.580G>A (p.Gly194Arg) c.511G>A (p.Gly171Arg) | gnomAD v4 |
| 9 | g.126693162G>C | CA374913066 | LMX1B | c.580G>C (p.Gly194Arg) c.511G>C (p.Gly171Arg) | |
| 9 | g.126693162G>T | CA374913067 | LMX1B | c.580G>T (p.Gly194Trp) c.511G>T (p.Gly171Trp) | gnomAD v4 |
| 9 | g.126693163G>A | CA374913068 | LMX1B | c.581G>A (p.Gly194Glu) c.512G>A (p.Gly171Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693163G>C | CA374913069 | LMX1B | c.581G>C (p.Gly194Ala) c.512G>C (p.Gly171Ala) | |
| 9 | g.126693163G= | CA1879478410 | LMX1B | c.581G= (p.Gly194=) c.512G= (p.Gly171=) | |
| 9 | g.126693163G>T | CA5242367 | LMX1B | c.581G>T (p.Gly194Val) c.512G>T (p.Gly171Val) | dbSNP ExAC |
| 9 | g.126693164G>A | CA467136487 | LMX1B | c.582G>A (p.Gly194=) c.513G>A (p.Gly171=) | gnomAD v4 |
| 9 | g.126693164G>C | CA467136488 | LMX1B | c.582G>C (p.Gly194=) c.513G>C (p.Gly171=) | |
| 9 | g.126693164G>T | CA467136490 | LMX1B | c.582G>T (p.Gly194=) c.513G>T (p.Gly171=) | gnomAD v4 |
| 9 | g.126693165G>A | CA374913070 | LMX1B | c.583G>A (p.Asp195Asn) c.514G>A (p.Asp172Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693165G>C | CA374913072 | LMX1B | c.583G>C (p.Asp195His) c.514G>C (p.Asp172His) | |
| 9 | g.126693165G= | CA1879478414 | LMX1B | c.583G= (p.Asp195=) c.514G= (p.Asp172=) | |
| 9 | g.126693165G>T | CA374913071 | LMX1B | c.583G>T (p.Asp195Tyr) c.514G>T (p.Asp172Tyr) | gnomAD v4 |
| 9 | g.126693166A>C | CA374913077 | LMX1B | c.584A>C (p.Asp195Ala) c.515A>C (p.Asp172Ala) | |
| 9 | g.126693166A>G | CA374913078 | LMX1B | c.584A>G (p.Asp195Gly) c.515A>G (p.Asp172Gly) | |
| 9 | g.126693166A>T | CA374913080 | LMX1B | c.584A>T (p.Asp195Val) c.515A>T (p.Asp172Val) | gnomAD v4 |
| 9 | g.126693167C>A | CA374913081 | LMX1B | c.585C>A (p.Asp195Glu) c.516C>A (p.Asp172Glu) | gnomAD v4 |
| 9 | g.126693167C= | CA1879478417 | LMX1B | c.585C= (p.Asp195=) c.516C= (p.Asp172=) | |
| 9 | g.126693167C>G | CA374913082 | LMX1B | c.585C>G (p.Asp195Glu) c.516C>G (p.Asp172Glu) | |
| 9 | g.126693167C>T | CA5242368 | LMX1B | c.585C>T (p.Asp195=) c.516C>T (p.Asp172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693168A>C | CA374913084 | LMX1B | c.586A>C (p.Met196Leu) c.517A>C (p.Met173Leu) | |
| 9 | g.126693168A>G | CA374913086 | LMX1B | c.586A>G (p.Met196Val) c.517A>G (p.Met173Val) | |
| 9 | g.126693168A>T | CA374913089 | LMX1B | c.586A>T (p.Met196Leu) c.517A>T (p.Met173Leu) | |
| 9 | g.126693169T>A | CA374913091 | LMX1B | c.587T>A (p.Met196Lys) c.518T>A (p.Met173Lys) | |
| 9 | g.126693169T>C | CA374913093 | LMX1B | c.587T>C (p.Met196Thr) c.518T>C (p.Met173Thr) | gnomAD v4 |
| 9 | g.126693169T>G | CA374913095 | LMX1B | c.587T>G (p.Met196Arg) c.518T>G (p.Met173Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693169T= | CA1879478420 | LMX1B | c.587T= (p.Met196=) c.518T= (p.Met173=) | |
| 9 | g.126693170G>A | CA374913102 | LMX1B | c.588G>A (p.Met196Ile) c.519G>A (p.Met173Ile) | gnomAD v4 |
| 9 | g.126693170G>C | CA374913100 | LMX1B | c.588G>C (p.Met196Ile) c.519G>C (p.Met173Ile) | |
| 9 | g.126693170G>T | CA374913098 | LMX1B | c.588G>T (p.Met196Ile) c.519G>T (p.Met173Ile) | gnomAD v4 |
| 9 | g.126693171A>C | CA374913105 | LMX1B | c.589A>C (p.Lys197Gln) c.520A>C (p.Lys174Gln) | |
| 9 | g.126693171A>G | CA374913106 | LMX1B | c.589A>G (p.Lys197Glu) c.520A>G (p.Lys174Glu) | gnomAD v4 |
| 9 | g.126693171A>T | CA374913107 | LMX1B | c.589A>T (p.Lys197Ter) c.520A>T (p.Lys174Ter) | |
| 9 | g.126693172A= | CA1879478422 | LMX1B | c.590A= (p.Lys197=) c.521A= (p.Lys174=) | |
| 9 | g.126693172A>C | CA374913108 | LMX1B | c.590A>C (p.Lys197Thr) c.521A>C (p.Lys174Thr) | |
| 9 | g.126693172A>G | CA374913110 | LMX1B | c.590A>G (p.Lys197Arg) c.521A>G (p.Lys174Arg) | gnomAD v4 |
| 9 | g.126693172A>T | CA199812958 | LMX1B | c.590A>T (p.Lys197Met) c.521A>T (p.Lys174Met) | dbSNP gnomAD v4 |
| 9 | g.126693173G>A | CA5242369 | LMX1B | c.591G>A (p.Lys197=) c.522G>A (p.Lys174=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693173G>C | CA374913114 | LMX1B | c.591G>C (p.Lys197Asn) c.522G>C (p.Lys174Asn) | |
| 9 | g.126693173G= | CA1879478425 | LMX1B | c.591G= (p.Lys197=) c.522G= (p.Lys174=) | |
| 9 | g.126693173G>T | CA374913115 | LMX1B | c.591G>T (p.Lys197Asn) c.522G>T (p.Lys174Asn) | gnomAD v4 |
| 9 | g.126693174C>A | CA374913116 | LMX1B | c.592C>A (p.Pro198Thr) c.523C>A (p.Pro175Thr) | gnomAD v4 |
| 9 | g.126693174C>G | CA374913117 | LMX1B | c.592C>G (p.Pro198Ala) c.523C>G (p.Pro175Ala) | |
| 9 | g.126693174C>T | CA374913118 | LMX1B | c.592C>T (p.Pro198Ser) c.523C>T (p.Pro175Ser) | gnomAD v4 |
| 9 | g.126693175C>A | CA374913119 | LMX1B | c.593C>A (p.Pro198Gln) c.524C>A (p.Pro175Gln) | gnomAD v4 |
| 9 | g.126693175C= | CA1879478427 | LMX1B | c.593C= (p.Pro198=) c.524C= (p.Pro175=) | |
| 9 | g.126693175C>G | CA374913125 | LMX1B | c.593C>G (p.Pro198Arg) c.524C>G (p.Pro175Arg) | |
| 9 | g.126693175C>T | CA5242370 | LMX1B | c.593C>T (p.Pro198Leu) c.524C>T (p.Pro175Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693176G>A | CA5242371 | LMX1B | c.594G>A (p.Pro198=) c.525G>A (p.Pro175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693176G>C | CA467136491 | LMX1B | c.594G>C (p.Pro198=) c.525G>C (p.Pro175=) | |
| 9 | g.126693176G= | CA1879478430 | LMX1B | c.594G= (p.Pro198=) c.525G= (p.Pro175=) | |
| 9 | g.126693176G>T | CA467136492 | LMX1B | c.594G>T (p.Pro198=) c.525G>T (p.Pro175=) | gnomAD v4 |
| 9 | g.126693177G>A | CA199813017 | LMX1B | c.595G>A (p.Ala199Thr) c.526G>A (p.Ala176Thr) | dbSNP gnomAD v4 |
| 9 | g.126693177G>C | CA374913127 | LMX1B | c.595G>C (p.Ala199Pro) c.526G>C (p.Ala176Pro) | gnomAD v4 |
| 9 | g.126693177G= | CA1879478432 | LMX1B | c.595G= (p.Ala199=) c.526G= (p.Ala176=) | |
| 9 | g.126693177G>T | CA374913129 | LMX1B | c.595G>T (p.Ala199Ser) c.526G>T (p.Ala176Ser) | |
| 9 | g.126693178C>A | CA374913133 | LMX1B | c.596C>A (p.Ala199Asp) c.527C>A (p.Ala176Asp) | |
| 9 | g.126693178C>G | CA374913135 | LMX1B | c.596C>G (p.Ala199Gly) c.527C>G (p.Ala176Gly) | |
| 9 | g.126693178C>T | CA374913136 | LMX1B | c.596C>T (p.Ala199Val) c.527C>T (p.Ala176Val) | gnomAD v4 |
| 9 | g.126693179C>A | CA467136493 | LMX1B | c.597C>A (p.Ala199=) c.528C>A (p.Ala176=) | gnomAD v4 |
| 9 | g.126693179C>G | CA467136495 | LMX1B | c.597C>G (p.Ala199=) c.528C>G (p.Ala176=) | |
| 9 | g.126693179C>T | CA467136494 | LMX1B | c.597C>T (p.Ala199=) c.528C>T (p.Ala176=) | |
| 9 | g.126693179_126693180dup | CA2695199409 | LMX1B | c.597_598dup (p.Lys200ThrfsTer?) c.528_529dup (p.Lys177ThrfsTer?) | ClinVar |
| 9 | g.126693180A>C | CA374913139 | LMX1B | c.598A>C (p.Lys200Gln) c.529A>C (p.Lys177Gln) | gnomAD v4 |
| 9 | g.126693180A>G | CA374913140 | LMX1B | c.598A>G (p.Lys200Glu) c.529A>G (p.Lys177Glu) | |
| 9 | g.126693180A>T | CA374913142 | LMX1B | c.598A>T (p.Lys200Ter) c.529A>T (p.Lys177Ter) | |
| 9 | g.126693181A= | CA1879478437 | LMX1B | c.599A= (p.Lys200=) c.530A= (p.Lys177=) | |
| 9 | g.126693181A>C | CA374913146 | LMX1B | c.599A>C (p.Lys200Thr) c.530A>C (p.Lys177Thr) | |
| 9 | g.126693181A>G | CA199813019 | LMX1B | c.599A>G (p.Lys200Arg) c.530A>G (p.Lys177Arg) | dbSNP gnomAD v4 |
| 9 | g.126693181A>T | CA374913152 | LMX1B | c.599A>T (p.Lys200Met) c.530A>T (p.Lys177Met) | |
| 9 | g.126693185_126693190del | CA2691709848 | LMX1B | c.603_608del (p.Gln202_Gly203del) c.534_539del (p.Gln179_Gly180del) | gnomAD v4 |
| 9 | g.126693182G>A | CA467136496 | LMX1B | c.600G>A (p.Lys200=) c.531G>A (p.Lys177=) | |
| 9 | g.126693182G>C | CA374913156 | LMX1B | c.600G>C (p.Lys200Asn) c.531G>C (p.Lys177Asn) | |
| 9 | g.126693182G>T | CA374913155 | LMX1B | c.600G>T (p.Lys200Asn) c.531G>T (p.Lys177Asn) | gnomAD v4 |
| 9 | g.126693185del | CA2695211423 | LMX1B | c.603del (p.Gln202ArgfsTer?) c.534del (p.Gln179ArgfsTer?) | |
| 9 | g.126693182_126693186dup | CA2739265031 | LMX1B | c.600_604dup (p.Gln202ArgfsTer?) c.531_535dup (p.Gln179ArgfsTer?) | ClinVar |
| 9 | g.126693183G>A | CA374913158 | LMX1B | c.601G>A (p.Gly201Arg) c.532G>A (p.Gly178Arg) | |
| 9 | g.126693183G>C | CA374913160 | LMX1B | c.601G>C (p.Gly201Arg) c.532G>C (p.Gly178Arg) | |
| 9 | g.126693183G= | CA1879478439 | LMX1B | c.601G= (p.Gly201=) c.532G= (p.Gly178=) | |
| 9 | g.126693183G>T | CA374913161 | LMX1B | c.601G>T (p.Gly201Trp) c.532G>T (p.Gly178Trp) | dbSNP |
| 9 | g.126693184G>A | CA374913163 | LMX1B | c.602G>A (p.Gly201Glu) c.533G>A (p.Gly178Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693184G>C | CA374913165 | LMX1B | c.602G>C (p.Gly201Ala) c.533G>C (p.Gly178Ala) | |
| 9 | g.126693184G= | CA1879478441 | LMX1B | c.602G= (p.Gly201=) c.533G= (p.Gly178=) | |
| 9 | g.126693184G>T | CA374913168 | LMX1B | c.602G>T (p.Gly201Val) c.533G>T (p.Gly178Val) | gnomAD v4 |
| 9 | g.126693185G>A | CA467136497 | LMX1B | c.603G>A (p.Gly201=) c.534G>A (p.Gly178=) | gnomAD v4 |
| 9 | g.126693185G>C | CA467136498 | LMX1B | c.603G>C (p.Gly201=) c.534G>C (p.Gly178=) | |
| 9 | g.126693185G>T | CA467136499 | LMX1B | c.603G>T (p.Gly201=) c.534G>T (p.Gly178=) | |
| 9 | g.126693186C>A | CA374913170 | LMX1B | c.604C>A (p.Gln202Lys) c.535C>A (p.Gln179Lys) | |
| 9 | g.126693186C>G | CA374913172 | LMX1B | c.604C>G (p.Gln202Glu) c.535C>G (p.Gln179Glu) | |
| 9 | g.126693186C>T | CA374913174 | LMX1B | c.604C>T (p.Gln202Ter) c.535C>T (p.Gln179Ter) | gnomAD v4 |
| 9 | g.126693187A= | CA1879478443 | LMX1B | c.605A= (p.Gln202=) c.536A= (p.Gln179=) | |
| 9 | g.126693187A>C | CA199813032 | LMX1B | c.605A>C (p.Gln202Pro) c.536A>C (p.Gln179Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693187A>G | CA374913177 | LMX1B | c.605A>G (p.Gln202Arg) c.536A>G (p.Gln179Arg) | gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693187A>T | CA374913178 | LMX1B | c.605A>T (p.Gln202Leu) c.536A>T (p.Gln179Leu) | |
| 9 | g.126693188G>A | CA467136500 | LMX1B | c.606G>A (p.Gln202=) c.537G>A (p.Gln179=) | |
| 9 | g.126693188G>C | CA374913184 | LMX1B | c.606G>C (p.Gln202His) c.537G>C (p.Gln179His) | |
| 9 | g.126693188G>T | CA374913180 | LMX1B | c.606G>T (p.Gln202His) c.537G>T (p.Gln179His) | gnomAD v4 |
| 9 | g.126693189G>A | CA374913186 | LMX1B | c.607G>A (p.Gly203Ser) c.538G>A (p.Gly180Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693189G>C | CA374913187 | LMX1B | c.607G>C (p.Gly203Arg) c.538G>C (p.Gly180Arg) | |
| 9 | g.126693189G= | CA1879478448 | LMX1B | c.607G= (p.Gly203=) c.538G= (p.Gly180=) | |
| 9 | g.126693189G>T | CA374913188 | LMX1B | c.607G>T (p.Gly203Cys) c.538G>T (p.Gly180Cys) | gnomAD v4 |
| 9 | g.126693190G>A | CA5242372 | LMX1B | c.608G>A (p.Gly203Asp) c.539G>A (p.Gly180Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126693190G>C | CA374913189 | LMX1B | c.608G>C (p.Gly203Ala) c.539G>C (p.Gly180Ala) | |
| 9 | g.126693190G= | CA1879478450 | LMX1B | c.608G= (p.Gly203=) c.539G= (p.Gly180=) | |
| 9 | g.126693190G>T | CA374913190 | LMX1B | c.608G>T (p.Gly203Val) c.539G>T (p.Gly180Val) | |
| 9 | g.126693191C>A | CA467136501 | LMX1B | c.609C>A (p.Gly203=) c.540C>A (p.Gly180=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693191C= | CA1879478452 | LMX1B | c.609C= (p.Gly203=) c.540C= (p.Gly180=) | |
| 9 | g.126693191C>G | CA467136502 | LMX1B | c.609C>G (p.Gly203=) c.540C>G (p.Gly180=) | |
| 9 | g.126693191C>T | CA467136503 | LMX1B | c.609C>T (p.Gly203=) c.540C>T (p.Gly180=) | gnomAD v4 |
| 9 | g.126693192A= | CA1879478454 | LMX1B | c.610A= (p.Ser204=) c.541A= (p.Ser181=) | |
| 9 | g.126693192A>C | CA374913198 | LMX1B | c.610A>C (p.Ser204Arg) c.541A>C (p.Ser181Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693192A>G | CA374913194 | LMX1B | c.610A>G (p.Ser204Gly) c.541A>G (p.Ser181Gly) | |
| 9 | g.126693192A>T | CA374913196 | LMX1B | c.610A>T (p.Ser204Cys) c.541A>T (p.Ser181Cys) | |
| 9 | g.126693193G>A | CA374913200 | LMX1B | c.611G>A (p.Ser204Asn) c.542G>A (p.Ser181Asn) | |
| 9 | g.126693193G>C | CA374913202 | LMX1B | c.611G>C (p.Ser204Thr) c.542G>C (p.Ser181Thr) | |
| 9 | g.126693193G= | CA1879478456 | LMX1B | c.611G= (p.Ser204=) c.542G= (p.Ser181=) | |
| 9 | g.126693193G>T | CA374913204 | LMX1B | c.611G>T (p.Ser204Ile) c.542G>T (p.Ser181Ile) | dbSNP gnomAD v4 |
| 9 | g.126693194T>A | CA374913206 | LMX1B | c.612T>A (p.Ser204Arg) c.543T>A (p.Ser181Arg) | |
| 9 | g.126693194T>C | CA467136504 | LMX1B | c.612T>C (p.Ser204=) c.543T>C (p.Ser181=) | gnomAD v4 |
| 9 | g.126693194T>G | CA374913211 | LMX1B | c.612T>G (p.Ser204Arg) c.543T>G (p.Ser181Arg) | |
| 9 | g.126693195C>A | CA374913213 | LMX1B | c.613C>A (p.Gln205Lys) c.544C>A (p.Gln182Lys) | |
| 9 | g.126693195C= | CA1879478457 | LMX1B | c.613C= (p.Gln205=) c.544C= (p.Gln182=) | |
| 9 | g.126693195C>G | CA374913216 | LMX1B | c.613C>G (p.Gln205Glu) c.544C>G (p.Gln182Glu) | gnomAD v4 |
| 9 | g.126693195C>T | CA374913214 | LMX1B | c.613C>T (p.Gln205Ter) c.544C>T (p.Gln182Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693196A>C | CA374913218 | LMX1B | c.614A>C (p.Gln205Pro) c.545A>C (p.Gln182Pro) | |
| 9 | g.126693196A>G | CA374913220 | LMX1B | c.614A>G (p.Gln205Arg) c.545A>G (p.Gln182Arg) | |
| 9 | g.126693196A>T | CA374913227 | LMX1B | c.614A>T (p.Gln205Leu) c.545A>T (p.Gln182Leu) | |
| 9 | g.126693197G>A | CA467136505 | LMX1B | c.615G>A (p.Gln205=) c.546G>A (p.Gln182=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693197G>C | CA374913230 | LMX1B | c.615G>C (p.Gln205His) c.546G>C (p.Gln182His) | |
| 9 | g.126693197G= | CA1879478460 | LMX1B | c.615G= (p.Gln205=) c.546G= (p.Gln182=) | |
| 9 | g.126693197G>T | CA374913231 | LMX1B | c.615G>T (p.Gln205His) c.546G>T (p.Gln182His) | |
| 9 | g.126693198A>C | CA374913234 | LMX1B | c.616A>C (p.Ser206Arg) c.547A>C (p.Ser183Arg) | |
| 9 | g.126693198A>G | CA374913238 | LMX1B | c.616A>G (p.Ser206Gly) c.547A>G (p.Ser183Gly) | gnomAD v4 |
| 9 | g.126693198A>T | CA374913240 | LMX1B | c.616A>T (p.Ser206Cys) c.547A>T (p.Ser183Cys) | gnomAD v4 |
| 9 | g.126693199G>A | CA5242373 | LMX1B | c.617G>A (p.Ser206Asn) c.548G>A (p.Ser183Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126693199G>C | CA374913245 | LMX1B | c.617G>C (p.Ser206Thr) c.548G>C (p.Ser183Thr) | |
| 9 | g.126693199G= | CA1879478462 | LMX1B | c.617G= (p.Ser206=) c.548G= (p.Ser183=) | |
| 9 | g.126693199G>T | CA374913246 | LMX1B | c.617G>T (p.Ser206Ile) c.548G>T (p.Ser183Ile) | gnomAD v4 |
| 9 | g.126693200C>A | CA374913249 | LMX1B | c.618C>A (p.Ser206Arg) c.549C>A (p.Ser183Arg) | gnomAD v4 |
| 9 | g.126693200C>G | CA374913247 | LMX1B | c.618C>G (p.Ser206Arg) c.549C>G (p.Ser183Arg) | |
| 9 | g.126693200C>T | CA467136506 | LMX1B | c.618C>T (p.Ser206=) c.549C>T (p.Ser183=) | gnomAD v4 |
| 9 | g.126693201A>C | CA374913250 | LMX1B | c.619A>C (p.Lys207Gln) c.550A>C (p.Lys184Gln) | |
| 9 | g.126693201A>G | CA374913252 | LMX1B | c.619A>G (p.Lys207Glu) c.550A>G (p.Lys184Glu) | |
| 9 | g.126693201A>T | CA374913251 | LMX1B | c.619A>T (p.Lys207Ter) c.550A>T (p.Lys184Ter) | |
| 9 | g.126693202A>C | CA374913253 | LMX1B | c.620A>C (p.Lys207Thr) c.551A>C (p.Lys184Thr) | |
| 9 | g.126693202A>G | CA374913255 | LMX1B | c.620A>G (p.Lys207Arg) c.551A>G (p.Lys184Arg) | |
| 9 | g.126693202A>T | CA374913254 | LMX1B | c.620A>T (p.Lys207Met) c.551A>T (p.Lys184Met) | gnomAD v4 |
| 9 | g.126693202_126693209dup | CA2588340055 | LMX1B | c.620_627dup (p.Gly210ArgfsTer?) c.551_558dup (p.Gly187ArgfsTer?) | |
| 9 | g.126693203G>A | CA467136507 | LMX1B | c.621G>A (p.Lys207=) c.552G>A (p.Lys184=) | gnomAD v4 |
| 9 | g.126693203G>C | CA374913256 | LMX1B | c.621G>C (p.Lys207Asn) c.552G>C (p.Lys184Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693203G= | CA1879478464 | LMX1B | c.621G= (p.Lys207=) c.552G= (p.Lys184=) | |
| 9 | g.126693203G>T | CA374913258 | LMX1B | c.621G>T (p.Lys207Asn) c.552G>T (p.Lys184Asn) | |
| 9 | g.126693205del | CA2573143938 | LMX1B | c.623del (p.Gly208AlafsTer?) c.554del (p.Gly185AlafsTer?) | ClinVar dbSNP |
| 9 | g.126693204G>A | CA374913260 | LMX1B | c.622G>A (p.Gly208Ser) c.553G>A (p.Gly185Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693204G>C | CA374913262 | LMX1B | c.622G>C (p.Gly208Arg) c.553G>C (p.Gly185Arg) | |
| 9 | g.126693204G= | CA1879478466 | LMX1B | c.622G= (p.Gly208=) c.553G= (p.Gly185=) | |
| 9 | g.126693204G>T | CA374913264 | LMX1B | c.622G>T (p.Gly208Cys) c.553G>T (p.Gly185Cys) | |
| 9 | g.126693204_126693206delinsA | CA2695211424 | LMX1B | c.622_624delinsA (p.Gly208LysfsTer4) c.553_555delinsA (p.Gly185LysfsTer4) | |
| 9 | g.126693205G>A | CA374913266 | LMX1B | c.623G>A (p.Gly208Asp) c.554G>A (p.Gly185Asp) | gnomAD v4 |
| 9 | g.126693205G>C | CA374913268 | LMX1B | c.623G>C (p.Gly208Ala) c.554G>C (p.Gly185Ala) | |
| 9 | g.126693205G>T | CA374913269 | LMX1B | c.623G>T (p.Gly208Val) c.554G>T (p.Gly185Val) | gnomAD v4 |
| 9 | g.126693206C>A | CA467136508 | LMX1B | c.624C>A (p.Gly208=) c.555C>A (p.Gly185=) | |
| 9 | g.126693206C>G | CA467136509 | LMX1B | c.624C>G (p.Gly208=) c.555C>G (p.Gly185=) | |
| 9 | g.126693206C>T | CA467136510 | LMX1B | c.624C>T (p.Gly208=) c.555C>T (p.Gly185=) | |
| 9 | g.126693207A>C | CA374913272 | LMX1B | c.625A>C (p.Ser209Arg) c.556A>C (p.Ser186Arg) | |
| 9 | g.126693207A>G | CA374913274 | LMX1B | c.625A>G (p.Ser209Gly) c.556A>G (p.Ser186Gly) | gnomAD v4 |
| 9 | g.126693207A>T | CA374913276 | LMX1B | c.625A>T (p.Ser209Cys) c.556A>T (p.Ser186Cys) | |
| 9 | g.126693208G>A | CA374913279 | LMX1B | c.626G>A (p.Ser209Asn) c.557G>A (p.Ser186Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693208G>C | CA374913282 | LMX1B | c.626G>C (p.Ser209Thr) c.557G>C (p.Ser186Thr) | |
| 9 | g.126693208G= | CA1879478468 | LMX1B | c.626G= (p.Ser209=) c.557G= (p.Ser186=) | |
| 9 | g.126693208G>T | CA374913280 | LMX1B | c.626G>T (p.Ser209Ile) c.557G>T (p.Ser186Ile) | gnomAD v4 |
| 9 | g.126693209C>A | CA374913284 | LMX1B | c.627C>A (p.Ser209Arg) c.558C>A (p.Ser186Arg) | gnomAD v4 |
| 9 | g.126693209C= | CA1879478471 | LMX1B | c.627C= (p.Ser209=) c.558C= (p.Ser186=) | |
| 9 | g.126693209C>G | CA374913286 | LMX1B | c.627C>G (p.Ser209Arg) c.558C>G (p.Ser186Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126693209C>T | CA5242374 | LMX1B | c.627C>T (p.Ser209=) c.558C>T (p.Ser186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693210G>A | CA5242375 | LMX1B | c.628G>A (p.Gly210Arg) c.559G>A (p.Gly187Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693210G>C | CA5242376 | LMX1B | c.628G>C (p.Gly210Arg) c.559G>C (p.Gly187Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693210G= | CA1879478475 | LMX1B | c.628G= (p.Gly210=) c.559G= (p.Gly187=) | |
| 9 | g.126693210G>T | CA374913290 | LMX1B | c.628G>T (p.Gly210Trp) c.559G>T (p.Gly187Trp) | |
| 9 | g.126693211G>A | CA374913291 | LMX1B | c.629G>A (p.Gly210Glu) c.560G>A (p.Gly187Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693211G>C | CA374913292 | LMX1B | c.629G>C (p.Gly210Ala) c.560G>C (p.Gly187Ala) | |
| 9 | g.126693211G= | CA1879478478 | LMX1B | c.629G= (p.Gly210=) c.560G= (p.Gly187=) | |
| 9 | g.126693211G>T | CA374913293 | LMX1B | c.629G>T (p.Gly210Val) c.560G>T (p.Gly187Val) | |
| 9 | g.126693212G>A | CA467136511 | LMX1B | c.630G>A (p.Gly210=) c.561G>A (p.Gly187=) | |
| 9 | g.126693212G>C | CA467136512 | LMX1B | c.630G>C (p.Gly210=) c.561G>C (p.Gly187=) | |
| 9 | g.126693212G>T | CA467136513 | LMX1B | c.630G>T (p.Gly210=) c.561G>T (p.Gly187=) | |
| 9 | g.126693213G>A | CA374913295 | LMX1B | c.631G>A (p.Asp211Asn) c.562G>A (p.Asp188Asn) | |
| 9 | g.126693213G>C | CA374913298 | LMX1B | c.631G>C (p.Asp211His) c.562G>C (p.Asp188His) | |
| 9 | g.126693213G>T | CA374913294 | LMX1B | c.631G>T (p.Asp211Tyr) c.562G>T (p.Asp188Tyr) | gnomAD v4 |
| 9 | g.126693214del | CA2695211425 | LMX1B | c.632del (p.Asp211ValfsTer?) c.563del (p.Asp188ValfsTer?) | |
| 9 | g.126693214A>C | CA374913300 | LMX1B | c.632A>C (p.Asp211Ala) c.563A>C (p.Asp188Ala) | |
| 9 | g.126693214A>G | CA374913303 | LMX1B | c.632A>G (p.Asp211Gly) c.563A>G (p.Asp188Gly) | |
| 9 | g.126693214A>T | CA374913305 | LMX1B | c.632A>T (p.Asp211Val) c.563A>T (p.Asp188Val) | |
| 9 | g.126693215T>A | CA374913307 | LMX1B | c.633T>A (p.Asp211Glu) c.564T>A (p.Asp188Glu) | |
| 9 | g.126693215T>C | CA467136514 | LMX1B | c.633T>C (p.Asp211=) c.564T>C (p.Asp188=) | |
| 9 | g.126693215T>G | CA374913310 | LMX1B | c.633T>G (p.Asp211Glu) c.564T>G (p.Asp188Glu) | gnomAD v4 |
| 9 | g.126693216G>A | CA374913317 | LMX1B | c.634G>A (p.Asp212Asn) c.565G>A (p.Asp189Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126693216G>C | CA374913313 | LMX1B | c.634G>C (p.Asp212His) c.565G>C (p.Asp189His) | |
| 9 | g.126693216G= | CA1879478480 | LMX1B | c.634G= (p.Asp212=) c.565G= (p.Asp189=) | |
| 9 | g.126693216G>T | CA374913315 | LMX1B | c.634G>T (p.Asp212Tyr) c.565G>T (p.Asp189Tyr) | gnomAD v4 |
| 9 | g.126693217A>C | CA374913319 | LMX1B | c.635A>C (p.Asp212Ala) c.566A>C (p.Asp189Ala) | |
| 9 | g.126693217A>G | CA374913321 | LMX1B | c.635A>G (p.Asp212Gly) c.566A>G (p.Asp189Gly) | gnomAD v4 |
| 9 | g.126693217A>T | CA374913323 | LMX1B | c.635A>T (p.Asp212Val) c.566A>T (p.Asp189Val) | |
| 9 | g.126693218C>A | CA374913326 | LMX1B | c.636C>A (p.Asp212Glu) c.567C>A (p.Asp189Glu) | gnomAD v4 |
| 9 | g.126693218C= | CA1879478483 | LMX1B | c.636C= (p.Asp212=) c.567C= (p.Asp189=) | |
| 9 | g.126693218C>G | CA374913328 | LMX1B | c.636C>G (p.Asp212Glu) c.567C>G (p.Asp189Glu) | |
| 9 | g.126693218C>T | CA199813073 | LMX1B | c.636C>T (p.Asp212=) c.567C>T (p.Asp189=) | dbSNP gnomAD v4 |
| 9 | g.126693219G>A | CA374913330 | LMX1B | c.637G>A (p.Gly213Arg) c.568G>A (p.Gly190Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693219G>C | CA374913334 | LMX1B | c.637G>C (p.Gly213Arg) c.568G>C (p.Gly190Arg) | |
| 9 | g.126693219G= | CA1879478485 | LMX1B | c.637G= (p.Gly213=) c.568G= (p.Gly190=) | |
| 9 | g.126693219G>T | CA374913332 | LMX1B | c.637G>T (p.Gly213Trp) c.568G>T (p.Gly190Trp) | |
| 9 | g.126693220G>A | CA374913337 | LMX1B | c.638G>A (p.Gly213Glu) c.569G>A (p.Gly190Glu) | |
| 9 | g.126693220G>C | CA374913339 | LMX1B | c.638G>C (p.Gly213Ala) c.569G>C (p.Gly190Ala) | |
| 9 | g.126693220G>T | CA374913341 | LMX1B | c.638G>T (p.Gly213Val) c.569G>T (p.Gly190Val) | |
| 9 | g.126693221G>A | CA467136517 | LMX1B | c.639G>A (p.Gly213=) c.570G>A (p.Gly190=) | dbSNP gnomAD v2 |
| 9 | g.126693221G>C | CA467136515 | LMX1B | c.639G>C (p.Gly213=) c.570G>C (p.Gly190=) | |
| 9 | g.126693221G= | CA1879478486 | LMX1B | c.639G= (p.Gly213=) c.570G= (p.Gly190=) | |
| 9 | g.126693221G>T | CA467136516 | LMX1B | c.639G>T (p.Gly213=) c.570G>T (p.Gly190=) | |
| 9 | g.126693222A>C | CA374913343 | LMX1B | c.640A>C (p.Lys214Gln) c.571A>C (p.Lys191Gln) | |
| 9 | g.126693222A>G | CA374913345 | LMX1B | c.640A>G (p.Lys214Glu) c.571A>G (p.Lys191Glu) | |
| 9 | g.126693222A>T | CA374913347 | LMX1B | c.640A>T (p.Lys214Ter) c.571A>T (p.Lys191Ter) | |
| 9 | g.126693223del | CA2695211426 | LMX1B | c.641del (p.Lys214ArgfsTer?) c.572del (p.Lys191ArgfsTer?) | |
| 9 | g.126693223A>C | CA374913349 | LMX1B | c.641A>C (p.Lys214Thr) c.572A>C (p.Lys191Thr) | |
| 9 | g.126693223A>G | CA374913351 | LMX1B | c.641A>G (p.Lys214Arg) c.572A>G (p.Lys191Arg) | gnomAD v4 |
| 9 | g.126693223A>T | CA374913354 | LMX1B | c.641A>T (p.Lys214Met) c.572A>T (p.Lys191Met) | |
| 9 | g.126693224G>A | CA467136518 | LMX1B | c.642G>A (p.Lys214=) c.573G>A (p.Lys191=) | |
| 9 | g.126693224G>C | CA374913357 | LMX1B | c.642G>C (p.Lys214Asn) c.573G>C (p.Lys191Asn) | |
| 9 | g.126693224G>T | CA374913359 | LMX1B | c.642G>T (p.Lys214Asn) c.573G>T (p.Lys191Asn) | gnomAD v4 |
| 9 | g.126693225G>A | CA374913362 | LMX1B | c.643G>A (p.Asp215Asn) c.574G>A (p.Asp192Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126693225G>C | CA374913363 | LMX1B | c.643G>C (p.Asp215His) c.574G>C (p.Asp192His) | |
| 9 | g.126693225G= | CA1879478488 | LMX1B | c.643G= (p.Asp215=) c.574G= (p.Asp192=) | |
| 9 | g.126693225G>T | CA374913361 | LMX1B | c.643G>T (p.Asp215Tyr) c.574G>T (p.Asp192Tyr) | |
| 9 | g.126693226A= | CA1879478490 | LMX1B | c.644A= (p.Asp215=) c.575A= (p.Asp192=) | |
| 9 | g.126693226A>C | CA374913369 | LMX1B | c.644A>C (p.Asp215Ala) c.575A>C (p.Asp192Ala) | dbSNP |
| 9 | g.126693226A>G | CA374913366 | LMX1B | c.644A>G (p.Asp215Gly) c.575A>G (p.Asp192Gly) | gnomAD v4 |
| 9 | g.126693226A>T | CA374913368 | LMX1B | c.644A>T (p.Asp215Val) c.575A>T (p.Asp192Val) | |
| 9 | g.126693227C>A | CA374913371 | LMX1B | c.645C>A (p.Asp215Glu) c.576C>A (p.Asp192Glu) | gnomAD v4 |
| 9 | g.126693227C= | CA1879478492 | LMX1B | c.645C= (p.Asp215=) c.576C= (p.Asp192=) | |
| 9 | g.126693227C>G | CA374913373 | LMX1B | c.645C>G (p.Asp215Glu) c.576C>G (p.Asp192Glu) | dbSNP |
| 9 | g.126693227C>T | CA467136519 | LMX1B | c.645C>T (p.Asp215=) c.576C>T (p.Asp192=) | dbSNP gnomAD v2 |
| 9 | g.126693229del | CA2785965297 | LMX1B | c.647del (p.Pro216ArgfsTer?) c.578del (p.Pro193ArgfsTer?) | |
| 9 | g.126693228C>A | CA374913375 | LMX1B | c.646C>A (p.Pro216Thr) c.577C>A (p.Pro193Thr) | gnomAD v4 |
| 9 | g.126693228C= | CA1879478495 | LMX1B | c.646C= (p.Pro216=) c.577C= (p.Pro193=) | |
| 9 | g.126693228C>G | CA374913377 | LMX1B | c.646C>G (p.Pro216Ala) c.577C>G (p.Pro193Ala) | |
| 9 | g.126693228C>T | CA374913379 | LMX1B | c.646C>T (p.Pro216Ser) c.577C>T (p.Pro193Ser) | dbSNP gnomAD v2 |
| 9 | g.126693229C>A | CA374913381 | LMX1B | c.647C>A (p.Pro216Gln) c.578C>A (p.Pro193Gln) | gnomAD v4 |
| 9 | g.126693229C= | CA1879478497 | LMX1B | c.647C= (p.Pro216=) c.578C= (p.Pro193=) | |
| 9 | g.126693229C>G | CA374913383 | LMX1B | c.647C>G (p.Pro216Arg) c.578C>G (p.Pro193Arg) | |
| 9 | g.126693229C>T | CA5242377 | LMX1B | c.647C>T (p.Pro216Leu) c.578C>T (p.Pro193Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126693229_126693230delinsCG | CA1879478499 | LMX1B | c.647_648delinsCG (p.Pro216=) c.578_579delinsCG (p.Pro193=) | |
| 9 | g.126693230del | CA590937947 | LMX1B | c.648del (p.Arg217GlyfsTer?) c.579del (p.Arg194GlyfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693230G>A | CA5242378 | LMX1B | c.648G>A (p.Pro216=) c.579G>A (p.Pro193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693230G>C | CA467136520 | LMX1B | c.648G>C (p.Pro216=) c.579G>C (p.Pro193=) | |
| 9 | g.126693230G= | CA1879478502 | LMX1B | c.648G= (p.Pro216=) c.579G= (p.Pro193=) | |
| 9 | g.126693230G>T | CA199813097 | LMX1B | c.648G>T (p.Pro216=) c.579G>T (p.Pro193=) | dbSNP gnomAD v4 |
| 9 | g.126693231C>A | CA467136521 | LMX1B | c.649C>A (p.Arg217=) c.580C>A (p.Arg194=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693231C= | CA1879478506 | LMX1B | c.649C= (p.Arg217=) c.580C= (p.Arg194=) | |
| 9 | g.126693231C>G | CA374913390 | LMX1B | c.649C>G (p.Arg217Gly) c.580C>G (p.Arg194Gly) | |
| 9 | g.126693231C>T | CA374913388 | LMX1B | c.649C>T (p.Arg217Trp) c.580C>T (p.Arg194Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693232G>A | CA199813098 | LMX1B | c.650G>A (p.Arg217Gln) c.581G>A (p.Arg194Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693232G>C | CA374913393 | LMX1B | c.650G>C (p.Arg217Pro) c.581G>C (p.Arg194Pro) | |
| 9 | g.126693232G= | CA1879478509 | LMX1B | c.650G= (p.Arg217=) c.581G= (p.Arg194=) | |
| 9 | g.126693232G>T | CA374913395 | LMX1B | c.650G>T (p.Arg217Leu) c.581G>T (p.Arg194Leu) | |
| 9 | g.126693233G>A | CA467136522 | LMX1B | c.651G>A (p.Arg217=) c.582G>A (p.Arg194=) | gnomAD v4 |
| 9 | g.126693233G>C | CA467136523 | LMX1B | c.651G>C (p.Arg217=) c.582G>C (p.Arg194=) | |
| 9 | g.126693233G>T | CA467136524 | LMX1B | c.651G>T (p.Arg217=) c.582G>T (p.Arg194=) | |
| 9 | g.126693234A>C | CA467136525 | LMX1B | c.652A>C (p.Arg218=) c.583A>C (p.Arg195=) | |
| 9 | g.126693234A>G | CA374913396 | LMX1B | c.652A>G (p.Arg218Gly) c.583A>G (p.Arg195Gly) | |
| 9 | g.126693234A>T | CA374913398 | LMX1B | c.652A>T (p.Arg218Trp) c.583A>T (p.Arg195Trp) | |
| 9 | g.126693235G>A | CA374913400 | LMX1B | c.653G>A (p.Arg218Lys) c.584G>A (p.Arg195Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693235G>C | CA374913402 | LMX1B | c.653G>C (p.Arg218Thr) c.584G>C (p.Arg195Thr) | |
| 9 | g.126693235G= | CA1879478512 | LMX1B | c.653G= (p.Arg218=) c.584G= (p.Arg195=) | |
| 9 | g.126693235G>T | CA374913404 | LMX1B | c.653G>T (p.Arg218Met) c.584G>T (p.Arg195Met) | |
| 9 | g.126693236G>A | CA467136526 | LMX1B | c.654G>A (p.Arg218=) c.585G>A (p.Arg195=) | |
| 9 | g.126693236G>C | CA374913406 | LMX1B | c.654G>C (p.Arg218Ser) c.585G>C (p.Arg195Ser) | |
| 9 | g.126693236G>T | CA374913408 | LMX1B | c.654G>T (p.Arg218Ser) c.585G>T (p.Arg195Ser) | |
| 9 | g.126693237C>A | CA374913410 | LMX1B | c.655C>A (p.Pro219Thr) c.586C>A (p.Pro196Thr) | gnomAD v4 |
| 9 | g.126693237C= | CA1879478514 | LMX1B | c.655C= (p.Pro219=) c.586C= (p.Pro196=) | |
| 9 | g.126693237C>G | CA374913411 | LMX1B | c.655C>G (p.Pro219Ala) c.586C>G (p.Pro196Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693237C>T | CA374913412 | LMX1B | c.655C>T (p.Pro219Ser) c.586C>T (p.Pro196Ser) | |
| 9 | g.126693238C>A | CA374913416 | LMX1B | c.656C>A (p.Pro219His) c.587C>A (p.Pro196His) | |
| 9 | g.126693238C>G | CA374913418 | LMX1B | c.656C>G (p.Pro219Arg) c.587C>G (p.Pro196Arg) | |
| 9 | g.126693238C>T | CA374913414 | LMX1B | c.656C>T (p.Pro219Leu) c.587C>T (p.Pro196Leu) | |
| 9 | g.126693239C>A | CA467136527 | LMX1B | c.657C>A (p.Pro219=) c.588C>A (p.Pro196=) | gnomAD v4 |
| 9 | g.126693239C>G | CA467136528 | LMX1B | c.657C>G (p.Pro219=) c.588C>G (p.Pro196=) | |
| 9 | g.126693239C>T | CA467136529 | LMX1B | c.657C>T (p.Pro219=) c.588C>T (p.Pro196=) | |
| 9 | g.126693240A>C | CA374913420 | LMX1B | c.658A>C (p.Lys220Gln) c.589A>C (p.Lys197Gln) | |
| 9 | g.126693240A>G | CA374913421 | LMX1B | c.658A>G (p.Lys220Glu) c.589A>G (p.Lys197Glu) | gnomAD v4 |
| 9 | g.126693240A>T | CA374913422 | LMX1B | c.658A>T (p.Lys220Ter) c.589A>T (p.Lys197Ter) | |
| 9 | g.126693241A>C | CA374913424 | LMX1B | c.659A>C (p.Lys220Thr) c.590A>C (p.Lys197Thr) | |
| 9 | g.126693241A>G | CA374913426 | LMX1B | c.659A>G (p.Lys220Arg) c.590A>G (p.Lys197Arg) | |
| 9 | g.126693241A>T | CA374913428 | LMX1B | c.659A>T (p.Lys220Met) c.590A>T (p.Lys197Met) | |
| 9 | g.126693242G>A | CA467136530 | LMX1B | c.660G>A (p.Lys220=) c.591G>A (p.Lys197=) | dbSNP gnomAD v2 |
| 9 | g.126693242G>C | CA374913430 | LMX1B | c.660G>C (p.Lys220Asn) c.591G>C (p.Lys197Asn) | |
| 9 | g.126693242G= | CA1879478516 | LMX1B | c.660G= (p.Lys220=) c.591G= (p.Lys197=) | |
| 9 | g.126693242G>T | CA374913432 | LMX1B | c.660G>T (p.Lys220Asn) c.591G>T (p.Lys197Asn) | |
| 9 | g.126693243del | CA2695211427 | LMX1B | c.661del (p.Arg221AspfsTer?) c.592del (p.Arg198AspfsTer?) | |
| 9 | g.126693243C>A | CA467136531 | LMX1B | c.661C>A (p.Arg221=) c.592C>A (p.Arg198=) | gnomAD v4 |
| 9 | g.126693243C= | CA1879478518 | LMX1B | c.661C= (p.Arg221=) c.592C= (p.Arg198=) | |
| 9 | g.126693243C>G | CA374913434 | LMX1B | c.661C>G (p.Arg221Gly) c.592C>G (p.Arg198Gly) | |
| 9 | g.126693243C>T | CA254044 | LMX1B | c.661C>T (p.Arg221Ter) c.592C>T (p.Arg198Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126693244G>A | CA374913438 | LMX1B | c.662G>A (p.Arg221Gln) c.593G>A (p.Arg198Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693244G>C | CA374913439 | LMX1B | c.662G>C (p.Arg221Pro) c.593G>C (p.Arg198Pro) | |
| 9 | g.126693244G= | CA1879478521 | LMX1B | c.662G= (p.Arg221=) c.593G= (p.Arg198=) | |
| 9 | g.126693244G>T | CA374913440 | LMX1B | c.662G>T (p.Arg221Leu) c.593G>T (p.Arg198Leu) | |
| 9 | g.126693245A= | CA1879478524 | LMX1B | c.663A= (p.Arg221=) c.594A= (p.Arg198=) | |
| 9 | g.126693245A>C | CA467136532 | LMX1B | c.663A>C (p.Arg221=) c.594A>C (p.Arg198=) | dbSNP |
| 9 | g.126693245A>G | CA467136533 | LMX1B | c.663A>G (p.Arg221=) c.594A>G (p.Arg198=) | |
| 9 | g.126693245A>T | CA467136534 | LMX1B | c.663A>T (p.Arg221=) c.594A>T (p.Arg198=) | |
| 9 | g.126693245dup | CA2695211428 | LMX1B | c.663dup (p.Pro222ThrfsTer?) c.594dup (p.Pro199ThrfsTer?) | |
| 9 | g.126693245_126693246delinsAC | CA1879478523 | LMX1B | c.663_664delinsAC (p.Arg221=) c.594_595delinsAC (p.Arg198=) | |
| 9 | g.126693246C>A | CA374913446 | LMX1B | c.664C>A (p.Pro222Thr) c.595C>A (p.Pro199Thr) | gnomAD v4 |
| 9 | g.126693246C>G | CA374913445 | LMX1B | c.664C>G (p.Pro222Ala) c.595C>G (p.Pro199Ala) | |
| 9 | g.126693246C>T | CA374913443 | LMX1B | c.664C>T (p.Pro222Ser) c.595C>T (p.Pro199Ser) | |
| 9 | g.126693249del | CA913190105 | LMX1B | c.667del (p.Arg223GlyfsTer?) c.598del (p.Arg200GlyfsTer?) | ClinVar dbSNP |
| 9 | g.126693247C>A | CA374913449 | LMX1B | c.665C>A (p.Pro222His) c.596C>A (p.Pro199His) | gnomAD v4 |
| 9 | g.126693247C>G | CA374913451 | LMX1B | c.665C>G (p.Pro222Arg) c.596C>G (p.Pro199Arg) | |
| 9 | g.126693247C>T | CA374913453 | LMX1B | c.665C>T (p.Pro222Leu) c.596C>T (p.Pro199Leu) | |
| 9 | g.126693248C>A | CA5242380 | LMX1B | c.666C>A (p.Pro222=) c.597C>A (p.Pro199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126693248C= | CA1879478532 | LMX1B | c.666C= (p.Pro222=) c.597C= (p.Pro199=) | |
| 9 | g.126693248C>G | CA467136535 | LMX1B | c.666C>G (p.Pro222=) c.597C>G (p.Pro199=) | dbSNP gnomAD v4 |
| 9 | g.126693248C>T | CA5242379 | LMX1B | c.666C>T (p.Pro222=) c.597C>T (p.Pro199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |