| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.126690837_126696452del | CA1139768478 | LMX1B | c.328_*1del c.259_*1del | |
| 9 | g.126693143G>A | CA467136481 | LMX1B | c.561G>A (p.Val187=) c.492G>A (p.Val164=) | gnomAD v4 |
| 9 | g.126693143G>C | CA467136480 | LMX1B | c.561G>C (p.Val187=) c.492G>C (p.Val164=) | |
| 9 | g.126693143G>T | CA467136479 | LMX1B | c.561G>T (p.Val187=) c.492G>T (p.Val164=) | gnomAD v4 |
| 9 | g.126693144A>C | CA374913018 | LMX1B | c.562A>C (p.Lys188Gln) c.493A>C (p.Lys165Gln) | |
| 9 | g.126693144A>G | CA374913019 | LMX1B | c.562A>G (p.Lys188Glu) c.493A>G (p.Lys165Glu) | |
| 9 | g.126693144A>T | CA374913020 | LMX1B | c.562A>T (p.Lys188Ter) c.493A>T (p.Lys165Ter) | |
| 9 | g.126693145A>C | CA374913021 | LMX1B | c.563A>C (p.Lys188Thr) c.494A>C (p.Lys165Thr) | |
| 9 | g.126693145A>G | CA374913023 | LMX1B | c.563A>G (p.Lys188Arg) c.494A>G (p.Lys165Arg) | |
| 9 | g.126693145A>T | CA374913022 | LMX1B | c.563A>T (p.Lys188Met) c.494A>T (p.Lys165Met) | |
| 9 | g.126693146G>A | CA467136482 | LMX1B | c.564G>A (p.Lys188=) c.495G>A (p.Lys165=) | gnomAD v4 |
| 9 | g.126693146G>C | CA374913024 | LMX1B | c.564G>C (p.Lys188Asn) c.495G>C (p.Lys165Asn) | |
| 9 | g.126693146G>T | CA374913025 | LMX1B | c.564G>T (p.Lys188Asn) c.495G>T (p.Lys165Asn) | gnomAD v4 |
| 9 | g.126693147A= | CA1879478388 | LMX1B | c.565A= (p.Ser189=) c.496A= (p.Ser166=) | |
| 9 | g.126693147A>C | CA374913026 | LMX1B | c.565A>C (p.Ser189Arg) c.496A>C (p.Ser166Arg) | |
| 9 | g.126693147A>G | CA374913027 | LMX1B | c.565A>G (p.Ser189Gly) c.496A>G (p.Ser166Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693147A>T | CA374913028 | LMX1B | c.565A>T (p.Ser189Cys) c.496A>T (p.Ser166Cys) | |
| 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) |