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.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 |
| 9 | g.126693249C>A | CA467136536 | LMX1B | c.667C>A (p.Arg223=) c.598C>A (p.Arg200=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693249C= | CA1879478535 | LMX1B | c.667C= (p.Arg223=) c.598C= (p.Arg200=) | |
| 9 | g.126693249C>G | CA374913457 | LMX1B | c.667C>G (p.Arg223Gly) c.598C>G (p.Arg200Gly) | COSMIC COSMIC |
| 9 | g.126693249C>T | CA374913458 | LMX1B | c.667C>T (p.Arg223Trp) c.598C>T (p.Arg200Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126693250G>A | CA254059 | LMX1B | c.668G>A (p.Arg223Gln) c.599G>A (p.Arg200Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693250G>C | CA374913461 | LMX1B | c.668G>C (p.Arg223Pro) c.599G>C (p.Arg200Pro) | ClinVar |
| 9 | g.126693250G= | CA1879478538 | LMX1B | c.668G= (p.Arg223=) c.599G= (p.Arg200=) | |
| 9 | g.126693250G>T | CA374913463 | LMX1B | c.668G>T (p.Arg223Leu) c.599G>T (p.Arg200Leu) | gnomAD v4 |
| 9 | g.126693251G>A | CA199813150 | LMX1B | c.669G>A (p.Arg223=) c.600G>A (p.Arg200=) | dbSNP gnomAD v2 |
| 9 | g.126693251G>C | CA467136537 | LMX1B | c.669G>C (p.Arg223=) c.600G>C (p.Arg200=) | |
| 9 | g.126693251G= | CA1879478542 | LMX1B | c.669G= (p.Arg223=) c.600G= (p.Arg200=) | |
| 9 | g.126693251G>T | CA467136538 | LMX1B | c.669G>T (p.Arg223=) c.600G>T (p.Arg200=) | |
| 9 | g.126693252A= | CA1879478544 | LMX1B | c.670A= (p.Thr224=) c.601A= (p.Thr201=) | |
| 9 | g.126693252A>C | CA374913465 | LMX1B | c.670A>C (p.Thr224Pro) c.601A>C (p.Thr201Pro) | dbSNP |
| 9 | g.126693252A>G | CA374913468 | LMX1B | c.670A>G (p.Thr224Ala) c.601A>G (p.Thr201Ala) | |
| 9 | g.126693252A>T | CA374913469 | LMX1B | c.670A>T (p.Thr224Ser) c.601A>T (p.Thr201Ser) | |
| 9 | g.126693253C>A | CA374913472 | LMX1B | c.671C>A (p.Thr224Asn) c.602C>A (p.Thr201Asn) | |
| 9 | g.126693253C= | CA1879478545 | LMX1B | c.671C= (p.Thr224=) c.602C= (p.Thr201=) | |
| 9 | g.126693253C>G | CA374913474 | LMX1B | c.671C>G (p.Thr224Ser) c.602C>G (p.Thr201Ser) | |
| 9 | g.126693253C>T | CA374913471 | LMX1B | c.671C>T (p.Thr224Ile) c.602C>T (p.Thr201Ile) | dbSNP gnomAD v2 |
| 9 | g.126693254dup | CA2695211429 | LMX1B | c.672dup (p.Ile225HisfsTer?) c.603dup (p.Ile202HisfsTer?) | |
| 9 | g.126693254C>A | CA467136539 | LMX1B | c.672C>A (p.Thr224=) c.603C>A (p.Thr201=) | |
| 9 | g.126693254C>G | CA467136540 | LMX1B | c.672C>G (p.Thr224=) c.603C>G (p.Thr201=) | |
| 9 | g.126693254C>T | CA467136541 | LMX1B | c.672C>T (p.Thr224=) c.603C>T (p.Thr201=) | |
| 9 | g.126693255A>C | CA374913478 | LMX1B | c.673A>C (p.Ile225Leu) c.604A>C (p.Ile202Leu) | |
| 9 | g.126693255A>G | CA374913477 | LMX1B | c.673A>G (p.Ile225Val) c.604A>G (p.Ile202Val) | |
| 9 | g.126693255A>T | CA374913480 | LMX1B | c.673A>T (p.Ile225Phe) c.604A>T (p.Ile202Phe) | |
| 9 | g.126693256T>A | CA374913482 | LMX1B | c.674T>A (p.Ile225Asn) c.605T>A (p.Ile202Asn) | gnomAD v4 |
| 9 | g.126693256T>C | CA374913483 | LMX1B | c.674T>C (p.Ile225Thr) c.605T>C (p.Ile202Thr) | |
| 9 | g.126693256T>G | CA374913485 | LMX1B | c.674T>G (p.Ile225Ser) c.605T>G (p.Ile202Ser) | ClinVar |
| 9 | g.126693257C>A | CA467136542 | LMX1B | c.675C>A (p.Ile225=) c.606C>A (p.Ile202=) | gnomAD v4 |
| 9 | g.126693257C>G | CA374913488 | LMX1B | c.675C>G (p.Ile225Met) c.606C>G (p.Ile202Met) | |
| 9 | g.126693257C>T | CA467136543 | LMX1B | c.675C>T (p.Ile225=) c.606C>T (p.Ile202=) | |
| 9 | g.126693258_126693263del | CA2695211430 | LMX1B | c.676_681del (p.Leu226_Thr227del) c.607_612del (p.Leu203_Thr204del) | |
| 9 | g.126693258C>A | CA374913489 | LMX1B | c.676C>A (p.Leu226Ile) c.607C>A (p.Leu203Ile) | |
| 9 | g.126693258C>G | CA374913490 | LMX1B | c.676C>G (p.Leu226Val) c.607C>G (p.Leu203Val) | |
| 9 | g.126693258C>T | CA374913492 | LMX1B | c.676C>T (p.Leu226Phe) c.607C>T (p.Leu203Phe) | ClinVar |
| 9 | g.126693259T>A | CA374913493 | LMX1B | c.677T>A (p.Leu226His) c.608T>A (p.Leu203His) | |
| 9 | g.126693259T>C | CA374913495 | LMX1B | c.677T>C (p.Leu226Pro) c.608T>C (p.Leu203Pro) | gnomAD v4 |
| 9 | g.126693259T>G | CA374913497 | LMX1B | c.677T>G (p.Leu226Arg) c.608T>G (p.Leu203Arg) | |
| 9 | g.126693260C>A | CA467136544 | LMX1B | c.678C>A (p.Leu226=) c.609C>A (p.Leu203=) | |
| 9 | g.126693260C= | CA1879478547 | LMX1B | c.678C= (p.Leu226=) c.609C= (p.Leu203=) | |
| 9 | g.126693260C>G | CA467136546 | LMX1B | c.678C>G (p.Leu226=) c.609C>G (p.Leu203=) | |
| 9 | g.126693260C>T | CA467136545 | LMX1B | c.678C>T (p.Leu226=) c.609C>T (p.Leu203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693261_126693262del | CA2739265032 | LMX1B | c.679_680del (p.Thr227HisfsTer28) c.610_611del (p.Thr204HisfsTer28) | ClinVar |
| 9 | g.126693262_126693268del | CA2695211431 | LMX1B | c.680_686del (p.Thr227SerfsTer?) c.611_617del (p.Thr204SerfsTer?) | |
| 9 | g.126693261A>C | CA374913499 | LMX1B | c.679A>C (p.Thr227Pro) c.610A>C (p.Thr204Pro) | |
| 9 | g.126693261A>G | CA374913501 | LMX1B | c.679A>G (p.Thr227Ala) c.610A>G (p.Thr204Ala) | |
| 9 | g.126693261A>T | CA374913503 | LMX1B | c.679A>T (p.Thr227Ser) c.610A>T (p.Thr204Ser) | |
| 9 | g.126693262C>A | CA374913506 | LMX1B | c.680C>A (p.Thr227Asn) c.611C>A (p.Thr204Asn) | |
| 9 | g.126693262C>G | CA374913510 | LMX1B | c.680C>G (p.Thr227Ser) c.611C>G (p.Thr204Ser) | |
| 9 | g.126693262C>T | CA374913508 | LMX1B | c.680C>T (p.Thr227Ile) c.611C>T (p.Thr204Ile) | |
| 9 | g.126693263C>A | CA467136547 | LMX1B | c.681C>A (p.Thr227=) c.612C>A (p.Thr204=) | gnomAD v4 COSMIC |
| 9 | g.126693263C= | CA1879478548 | LMX1B | c.681C= (p.Thr227=) c.612C= (p.Thr204=) | |
| 9 | g.126693263C>G | CA467136548 | LMX1B | c.681C>G (p.Thr227=) c.612C>G (p.Thr204=) | |
| 9 | g.126693263C>T | CA5242381 | LMX1B | c.681C>T (p.Thr227=) c.612C>T (p.Thr204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693264A= | CA1879478549 | LMX1B | c.682A= (p.Thr228=) c.613A= (p.Thr205=) | |
| 9 | g.126693264A>C | CA374913513 | LMX1B | c.682A>C (p.Thr228Pro) c.613A>C (p.Thr205Pro) | |
| 9 | g.126693264A>G | CA5242382 | LMX1B | c.682A>G (p.Thr228Ala) c.613A>G (p.Thr205Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126693264A>T | CA374913515 | LMX1B | c.682A>T (p.Thr228Ser) c.613A>T (p.Thr205Ser) | |
| 9 | g.126693265C>A | CA374913518 | LMX1B | c.683C>A (p.Thr228Lys) c.614C>A (p.Thr205Lys) | ClinVar |
| 9 | g.126693265C= | CA1879478551 | LMX1B | c.683C= (p.Thr228=) c.614C= (p.Thr205=) | |
| 9 | g.126693265C>G | CA374913519 | LMX1B | c.683C>G (p.Thr228Arg) c.614C>G (p.Thr205Arg) | |
| 9 | g.126693265C>T | CA5242383 | LMX1B | c.683C>T (p.Thr228Met) c.614C>T (p.Thr205Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693265_126693266insTCA | CA2695211432 | LMX1B | c.683_684insTCA (p.Thr228_Gln229insGln) c.614_615insTCA (p.Thr205_Gln206insGln) | |
| 9 | g.126693266G>A | CA467136549 | LMX1B | c.684G>A (p.Thr228=) c.615G>A (p.Thr205=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693266G>C | CA467136550 | LMX1B | c.684G>C (p.Thr228=) c.615G>C (p.Thr205=) | |
| 9 | g.126693266G= | CA1879478553 | LMX1B | c.684G= (p.Thr228=) c.615G= (p.Thr205=) | |
| 9 | g.126693266G>T | CA467136551 | LMX1B | c.684G>T (p.Thr228=) c.615G>T (p.Thr205=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126693267C>A | CA374913524 | LMX1B | c.685C>A (p.Gln229Lys) c.616C>A (p.Gln206Lys) | |
| 9 | g.126693267C>G | CA374913526 | LMX1B | c.685C>G (p.Gln229Glu) c.616C>G (p.Gln206Glu) | |
| 9 | g.126693267C>T | CA374913528 | LMX1B | c.685C>T (p.Gln229Ter) c.616C>T (p.Gln206Ter) | |
| 9 | g.126693268A>C | CA374913532 | LMX1B | c.686A>C (p.Gln229Pro) c.617A>C (p.Gln206Pro) | |
| 9 | g.126693268A>G | CA374913534 | LMX1B | c.686A>G (p.Gln229Arg) c.617A>G (p.Gln206Arg) | |
| 9 | g.126693268A>T | CA374913530 | LMX1B | c.686A>T (p.Gln229Leu) c.617A>T (p.Gln206Leu) | |
| 9 | g.126693269G>A | CA467136552 | LMX1B | c.687G>A (p.Gln229=) c.618G>A (p.Gln206=) | gnomAD v4 |
| 9 | g.126693269G>C | CA199813175 | LMX1B | c.687G>C (p.Gln229His) c.618G>C (p.Gln206His) | dbSNP gnomAD v4 |
| 9 | g.126693269G= | CA1879478555 | LMX1B | c.687G= (p.Gln229=) c.618G= (p.Gln206=) | |
| 9 | g.126693269G>T | CA374913538 | LMX1B | c.687G>T (p.Gln229His) c.618G>T (p.Gln206His) | |
| 9 | g.126693270C>A | CA374913540 | LMX1B | c.688C>A (p.Gln230Lys) c.619C>A (p.Gln207Lys) | ClinVar dbSNP |
| 9 | g.126693270C>G | CA374913542 | LMX1B | c.688C>G (p.Gln230Glu) c.619C>G (p.Gln207Glu) | |
| 9 | g.126693270C>T | CA374913544 | LMX1B | c.688C>T (p.Gln230Ter) c.619C>T (p.Gln207Ter) | |
| 9 | g.126693271A>C | CA374913547 | LMX1B | c.689A>C (p.Gln230Pro) c.620A>C (p.Gln207Pro) | |
| 9 | g.126693271A>G | CA374913549 | LMX1B | c.689A>G (p.Gln230Arg) c.620A>G (p.Gln207Arg) | gnomAD v4 |
| 9 | g.126693271A>T | CA374913550 | LMX1B | c.689A>T (p.Gln230Leu) c.620A>T (p.Gln207Leu) | |
| 9 | g.126693272G>A | CA5242384 | LMX1B | c.690G>A (p.Gln230=) c.621G>A (p.Gln207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693272G>C | CA374913553 | LMX1B | c.690G>C (p.Gln230His) c.621G>C (p.Gln207His) | |
| 9 | g.126693272G= | CA1879478560 | LMX1B | c.690G= (p.Gln230=) c.621G= (p.Gln207=) | |
| 9 | g.126693272G>T | CA374913555 | LMX1B | c.690G>T (p.Gln230His) c.621G>T (p.Gln207His) | |
| 9 | g.126693273C>A | CA467136554 | LMX1B | c.691C>A (p.Arg231=) c.622C>A (p.Arg208=) | gnomAD v4 |
| 9 | g.126693273C= | CA1879478563 | LMX1B | c.691C= (p.Arg231=) c.622C= (p.Arg208=) | |
| 9 | g.126693273C>G | CA374913557 | LMX1B | c.691C>G (p.Arg231Gly) c.622C>G (p.Arg208Gly) | |
| 9 | g.126693273C>T | CA254055 | LMX1B | c.691C>T (p.Arg231Ter) c.622C>T (p.Arg208Ter) | ClinVar dbSNP gnomAD v2 |
| 9 | g.126693274G>A | CA199813180 | LMX1B | c.692G>A (p.Arg231Gln) c.623G>A (p.Arg208Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126693274G>C | CA374913563 | LMX1B | c.692G>C (p.Arg231Pro) c.623G>C (p.Arg208Pro) | |
| 9 | g.126693274G= | CA1879478567 | LMX1B | c.692G= (p.Arg231=) c.623G= (p.Arg208=) | |
| 9 | g.126693274G>T | CA374913561 | LMX1B | c.692G>T (p.Arg231Leu) c.623G>T (p.Arg208Leu) | gnomAD v4 |
| 9 | g.126693275A>C | CA467136555 | LMX1B | c.693A>C (p.Arg231=) c.624A>C (p.Arg208=) | |
| 9 | g.126693275A>G | CA467136556 | LMX1B | c.693A>G (p.Arg231=) c.624A>G (p.Arg208=) | |
| 9 | g.126693275A>T | CA467136557 | LMX1B | c.693A>T (p.Arg231=) c.624A>T (p.Arg208=) | |
| 9 | g.126693276A>C | CA467136559 | LMX1B | c.694A>C (p.Arg232=) c.625A>C (p.Arg209=) | |
| 9 | g.126693276A>G | CA374913566 | LMX1B | c.694A>G (p.Arg232Gly) c.625A>G (p.Arg209Gly) | |
| 9 | g.126693276A>T | CA374913568 | LMX1B | c.694A>T (p.Arg232Ter) c.625A>T (p.Arg209Ter) | |
| 9 | g.126693277G>A | CA374913569 | LMX1B | c.695G>A (p.Arg232Lys) c.626G>A (p.Arg209Lys) | |
| 9 | g.126693277G>C | CA374913570 | LMX1B | c.695G>C (p.Arg232Thr) c.626G>C (p.Arg209Thr) | |
| 9 | g.126693277G>T | CA374913572 | LMX1B | c.695G>T (p.Arg232Ile) c.626G>T (p.Arg209Ile) | |
| 9 | g.126693278A= | CA1879478570 | LMX1B | c.696A= (p.Arg232=) c.627A= (p.Arg209=) | |
| 9 | g.126693278A>C | CA374913574 | LMX1B | c.696A>C (p.Arg232Ser) c.627A>C (p.Arg209Ser) | |
| 9 | g.126693278A>G | CA5242385 | LMX1B | c.696A>G (p.Arg232=) c.627A>G (p.Arg209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.126693278A>T | CA374913577 | LMX1B | c.696A>T (p.Arg232Ser) c.627A>T (p.Arg209Ser) | |
| 9 | g.126693279G>A | CA374913579 | LMX1B | c.697G>A (p.Ala233Thr) c.628G>A (p.Ala210Thr) | dbSNP gnomAD v2 |
| 9 | g.126693279G>C | CA374913581 | LMX1B | c.697G>C (p.Ala233Pro) c.628G>C (p.Ala210Pro) | |
| 9 | g.126693279G= | CA1879478572 | LMX1B | c.697G= (p.Ala233=) c.628G= (p.Ala210=) | |
| 9 | g.126693279G>T | CA374913583 | LMX1B | c.697G>T (p.Ala233Ser) c.628G>T (p.Ala210Ser) | |
| 9 | g.126693280C>A | CA374913585 | LMX1B | c.698C>A (p.Ala233Asp) c.629C>A (p.Ala210Asp) | dbSNP gnomAD v4 |
| 9 | g.126693280C= | CA1879478575 | LMX1B | c.698C= (p.Ala233=) c.629C= (p.Ala210=) | |
| 9 | g.126693280C>G | CA374913586 | LMX1B | c.698C>G (p.Ala233Gly) c.629C>G (p.Ala210Gly) | |
| 9 | g.126693280C>T | CA374913588 | LMX1B | c.698C>T (p.Ala233Val) c.629C>T (p.Ala210Val) | dbSNP gnomAD v2 |
| 9 | g.126693281C>A | CA467136560 | LMX1B | c.699C>A (p.Ala233=) c.630C>A (p.Ala210=) | gnomAD v4 |
| 9 | g.126693281C= | CA1879478577 | LMX1B | c.699C= (p.Ala233=) c.630C= (p.Ala210=) | |
| 9 | g.126693281C>G | CA467136561 | LMX1B | c.699C>G (p.Ala233=) c.630C>G (p.Ala210=) | |
| 9 | g.126693281C>T | CA5242386 | LMX1B | c.699C>T (p.Ala233=) c.630C>T (p.Ala210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693282T>A | CA374913594 | LMX1B | c.700T>A (p.Phe234Ile) c.631T>A (p.Phe211Ile) | |
| 9 | g.126693282T>C | CA374913592 | LMX1B | c.700T>C (p.Phe234Leu) c.631T>C (p.Phe211Leu) | |
| 9 | g.126693282T>G | CA374913596 | LMX1B | c.700T>G (p.Phe234Val) c.631T>G (p.Phe211Val) | |
| 9 | g.126693283del | CA2691709985 | LMX1B | c.701del (p.Phe234SerfsTer?) c.632del (p.Phe211SerfsTer?) | gnomAD v4 |
| 9 | g.126693283T>A | CA374913598 | LMX1B | c.701T>A (p.Phe234Tyr) c.632T>A (p.Phe211Tyr) | |
| 9 | g.126693283T>C | CA374913600 | LMX1B | c.701T>C (p.Phe234Ser) c.632T>C (p.Phe211Ser) | |
| 9 | g.126693283T>G | CA374913602 | LMX1B | c.701T>G (p.Phe234Cys) c.632T>G (p.Phe211Cys) | |
| 9 | g.126693284C>A | CA374913604 | LMX1B | c.702C>A (p.Phe234Leu) c.633C>A (p.Phe211Leu) | gnomAD v4 |
| 9 | g.126693284C= | CA1879478578 | LMX1B | c.702C= (p.Phe234=) c.633C= (p.Phe211=) | |
| 9 | g.126693284C>G | CA374913606 | LMX1B | c.702C>G (p.Phe234Leu) c.633C>G (p.Phe211Leu) | |
| 9 | g.126693284C>T | CA467136563 | LMX1B | c.702C>T (p.Phe234=) c.633C>T (p.Phe211=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.126693285A>C | CA374913609 | LMX1B | c.703A>C (p.Lys235Gln) c.634A>C (p.Lys212Gln) | |
| 9 | g.126693285A>G | CA374913610 | LMX1B | c.703A>G (p.Lys235Glu) c.634A>G (p.Lys212Glu) | gnomAD v4 |
| 9 | g.126693285A>T | CA374913612 | LMX1B | c.703A>T (p.Lys235Ter) c.634A>T (p.Lys212Ter) | |
| 9 | g.126693286A>C | CA374913614 | LMX1B | c.704A>C (p.Lys235Thr) c.635A>C (p.Lys212Thr) | |
| 9 | g.126693286A>G | CA374913616 | LMX1B | c.704A>G (p.Lys235Arg) c.635A>G (p.Lys212Arg) | |
| 9 | g.126693286A>T | CA374913617 | LMX1B | c.704A>T (p.Lys235Met) c.635A>T (p.Lys212Met) | |
| 9 | g.126693287G>A | CA467136564 | LMX1B | c.705G>A (p.Lys235=) c.636G>A (p.Lys212=) | dbSNP gnomAD v2 |
| 9 | g.126693287G>C | CA374913620 | LMX1B | c.705G>C (p.Lys235Asn) c.636G>C (p.Lys212Asn) | ClinVar |
| 9 | g.126693287G= | CA1879478580 | LMX1B | c.705G= (p.Lys235=) c.636G= (p.Lys212=) | |
| 9 | g.126693287G>T | CA374913621 | LMX1B | c.705G>T (p.Lys235Asn) c.636G>T (p.Lys212Asn) | gnomAD v4 |
| 9 | g.126693288G>A | CA374913627 | LMX1B | c.706G>A (p.Ala236Thr) c.637G>A (p.Ala213Thr) | gnomAD v4 |
| 9 | g.126693288G>C | CA374913624 | LMX1B | c.706G>C (p.Ala236Pro) c.637G>C (p.Ala213Pro) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126693288G= | CA1879478583 | LMX1B | c.706G= (p.Ala236=) c.637G= (p.Ala213=) | |
| 9 | g.126693288G>T | CA374913625 | LMX1B | c.706G>T (p.Ala236Ser) c.637G>T (p.Ala213Ser) | dbSNP gnomAD v4 |
| 9 | g.126693289C>A | CA374913630 | LMX1B | c.707C>A (p.Ala236Asp) c.638C>A (p.Ala213Asp) | gnomAD v4 |
| 9 | g.126693289C= | CA1879478585 | LMX1B | c.707C= (p.Ala236=) c.638C= (p.Ala213=) | |
| 9 | g.126693289C>G | CA374913631 | LMX1B | c.707C>G (p.Ala236Gly) c.638C>G (p.Ala213Gly) | |
| 9 | g.126693289C>T | CA374913633 | LMX1B | c.707C>T (p.Ala236Val) c.638C>T (p.Ala213Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693290C>A | CA467136565 | LMX1B | c.708C>A (p.Ala236=) c.639C>A (p.Ala213=) | gnomAD v4 |
| 9 | g.126693290C= | CA1879478588 | LMX1B | c.708C= (p.Ala236=) c.639C= (p.Ala213=) | |
| 9 | g.126693290C>G | CA467136567 | LMX1B | c.708C>G (p.Ala236=) c.639C>G (p.Ala213=) | |
| 9 | g.126693290C>T | CA467136566 | LMX1B | c.708C>T (p.Ala236=) c.639C>T (p.Ala213=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693291T>A | CA374913636 | LMX1B | c.709T>A (p.Ser237Thr) c.640T>A (p.Ser214Thr) | |
| 9 | g.126693291T>C | CA374913638 | LMX1B | c.709T>C (p.Ser237Pro) c.640T>C (p.Ser214Pro) | ClinVar dbSNP |
| 9 | g.126693291T>G | CA374913639 | LMX1B | c.709T>G (p.Ser237Ala) c.640T>G (p.Ser214Ala) | dbSNP |
| 9 | g.126693291T= | CA1879478591 | LMX1B | c.709T= (p.Ser237=) c.640T= (p.Ser214=) | |
| 9 | g.126693292C>A | CA374913641 | LMX1B | c.710C>A (p.Ser237Tyr) c.641C>A (p.Ser214Tyr) | |
| 9 | g.126693292C>G | CA374913644 | LMX1B | c.710C>G (p.Ser237Cys) c.641C>G (p.Ser214Cys) | gnomAD v4 |
| 9 | g.126693292C>T | CA374913646 | LMX1B | c.710C>T (p.Ser237Phe) c.641C>T (p.Ser214Phe) | |
| 9 | g.126693292_126693295delinsCCTT | CA1879478597 | LMX1B | c.710_713delinsCCTT (p.Ser237=) c.641_644delinsCCTT (p.Ser214=) | |
| 9 | g.126693293C>A | CA467136568 | LMX1B | c.711C>A (p.Ser237=) c.642C>A (p.Ser214=) | |
| 9 | g.126693293C= | CA1879478600 | LMX1B | c.711C= (p.Ser237=) c.642C= (p.Ser214=) | |
| 9 | g.126693293C>G | CA467136569 | LMX1B | c.711C>G (p.Ser237=) c.642C>G (p.Ser214=) | |
| 9 | g.126693293C>T | CA467136570 | LMX1B | c.711C>T (p.Ser237=) c.642C>T (p.Ser214=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693294_126693296del | CA658797278 | LMX1B | c.712_714del (p.Phe238del) c.643_645del (p.Phe215del) | ClinVar dbSNP |
| 9 | g.126693294T>A | CA374913648 | LMX1B | c.712T>A (p.Phe238Ile) c.643T>A (p.Phe215Ile) | |
| 9 | g.126693294T>C | CA374913650 | LMX1B | c.712T>C (p.Phe238Leu) c.643T>C (p.Phe215Leu) | |
| 9 | g.126693294T>G | CA374913652 | LMX1B | c.712T>G (p.Phe238Val) c.643T>G (p.Phe215Val) | |
| 9 | g.126693295T>A | CA374913658 | LMX1B | c.713T>A (p.Phe238Tyr) c.644T>A (p.Phe215Tyr) | |
| 9 | g.126693295T>C | CA374913656 | LMX1B | c.713T>C (p.Phe238Ser) c.644T>C (p.Phe215Ser) | COSMIC COSMIC COSMIC |
| 9 | g.126693295T>G | CA374913654 | LMX1B | c.713T>G (p.Phe238Cys) c.644T>G (p.Phe215Cys) | |
| 9 | g.126693296C>A | CA374913660 | LMX1B | c.714C>A (p.Phe238Leu) c.645C>A (p.Phe215Leu) | gnomAD v4 |
| 9 | g.126693296C= | CA1879478605 | LMX1B | c.714C= (p.Phe238=) c.645C= (p.Phe215=) | |
| 9 | g.126693296C>G | CA374913662 | LMX1B | c.714C>G (p.Phe238Leu) c.645C>G (p.Phe215Leu) | |
| 9 | g.126693296C>T | CA467136571 | LMX1B | c.714C>T (p.Phe238=) c.645C>T (p.Phe215=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693297G>A | CA374913664 | LMX1B | c.715G>A (p.Glu239Lys) c.646G>A (p.Glu216Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693297G>C | CA5242387 | LMX1B | c.715G>C (p.Glu239Gln) c.646G>C (p.Glu216Gln) | dbSNP ExAC gnomAD v2 |
| 9 | g.126693297G= | CA1879478609 | LMX1B | c.715G= (p.Glu239=) c.646G= (p.Glu216=) | |
| 9 | g.126693297G>T | CA374913667 | LMX1B | c.715G>T (p.Glu239Ter) c.646G>T (p.Glu216Ter) | gnomAD v4 |
| 9 | g.126693298A= | CA1879478613 | LMX1B | c.716A= (p.Glu239=) c.647A= (p.Glu216=) | |
| 9 | g.126693298A>C | CA5242388 | LMX1B | c.716A>C (p.Glu239Ala) c.647A>C (p.Glu216Ala) | dbSNP ExAC gnomAD v2 |
| 9 | g.126693298A>G | CA374913669 | LMX1B | c.716A>G (p.Glu239Gly) c.647A>G (p.Glu216Gly) | gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.126693298A>T | CA374913670 | LMX1B | c.716A>T (p.Glu239Val) c.647A>T (p.Glu216Val) | |
| 9 | g.126693298_126693304del | CA2691710036 | LMX1B | c.716_722del (p.Glu239GlyfsTer?) c.647_653del (p.Glu216GlyfsTer?) | gnomAD v4 |
| 9 | g.126693299G>A | CA467136572 | LMX1B | c.717G>A (p.Glu239=) c.648G>A (p.Glu216=) | dbSNP gnomAD v2 |
| 9 | g.126693299G>C | CA374913671 | LMX1B | c.717G>C (p.Glu239Asp) c.648G>C (p.Glu216Asp) | |
| 9 | g.126693299G= | CA1879478615 | LMX1B | c.717G= (p.Glu239=) c.648G= (p.Glu216=) | |
| 9 | g.126693299G>T | CA374913672 | LMX1B | c.717G>T (p.Glu239Asp) c.648G>T (p.Glu216Asp) | gnomAD v4 |
| 9 | g.126693300G>A | CA374913673 | LMX1B | c.718G>A (p.Val240Ile) c.649G>A (p.Val217Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693300G>C | CA374913674 | LMX1B | c.718G>C (p.Val240Leu) c.649G>C (p.Val217Leu) | |
| 9 | g.126693300G= | CA1879478617 | LMX1B | c.718G= (p.Val240=) c.649G= (p.Val217=) | |
| 9 | g.126693300G>T | CA374913675 | LMX1B | c.718G>T (p.Val240Phe) c.649G>T (p.Val217Phe) | |
| 9 | g.126693301T>A | CA374913678 | LMX1B | c.719T>A (p.Val240Asp) c.650T>A (p.Val217Asp) | |
| 9 | g.126693301T>C | CA374913676 | LMX1B | c.719T>C (p.Val240Ala) c.650T>C (p.Val217Ala) | |
| 9 | g.126693301T>G | CA374913677 | LMX1B | c.719T>G (p.Val240Gly) c.650T>G (p.Val217Gly) | dbSNP |
| 9 | g.126693302C>A | CA467136573 | LMX1B | c.720C>A (p.Val240=) c.651C>A (p.Val217=) | gnomAD v4 |
| 9 | g.126693302C= | CA1879478621 | LMX1B | c.720C= (p.Val240=) c.651C= (p.Val217=) | |
| 9 | g.126693302C>G | CA467136574 | LMX1B | c.720C>G (p.Val240=) c.651C>G (p.Val217=) | |
| 9 | g.126693302C>T | CA467136575 | LMX1B | c.720C>T (p.Val240=) c.651C>T (p.Val217=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693302_126693304del | CA2695211433 | LMX1B | c.720_722del (p.Ser241del) c.651_653del (p.Ser218del) | |
| 9 | g.126693304_126693314dup | CA2695211434 | LMX1B | c.722_732dup (p.Cys245ArgfsTer?) c.653_663dup (p.Cys222ArgfsTer?) | |
| 9 | g.126693303T>A | CA374913679 | LMX1B | c.721T>A (p.Ser241Thr) c.652T>A (p.Ser218Thr) | |
| 9 | g.126693303T>C | CA374913680 | LMX1B | c.721T>C (p.Ser241Pro) c.652T>C (p.Ser218Pro) | |
| 9 | g.126693303T>G | CA374913681 | LMX1B | c.721T>G (p.Ser241Ala) c.652T>G (p.Ser218Ala) | |
| 9 | g.126693304del | CA2580079541 | LMX1B | c.722del (p.Ser241CysfsTer?) c.653del (p.Ser218CysfsTer?) | ClinVar |
| 9 | g.126693304C>A | CA374913682 | LMX1B | c.722C>A (p.Ser241Ter) c.653C>A (p.Ser218Ter) | |
| 9 | g.126693304C= | CA1879478623 | LMX1B | c.722C= (p.Ser241=) c.653C= (p.Ser218=) | |
| 9 | g.126693304C>G | CA374913683 | LMX1B | c.722C>G (p.Ser241Trp) c.653C>G (p.Ser218Trp) | |
| 9 | g.126693304C>T | CA374913684 | LMX1B | c.722C>T (p.Ser241Leu) c.653C>T (p.Ser218Leu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126693305G>A | CA5242389 | LMX1B | c.723G>A (p.Ser241=) c.654G>A (p.Ser218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693305G>C | CA5242390 | LMX1B | c.723G>C (p.Ser241=) c.654G>C (p.Ser218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693305G= | CA1879478628 | LMX1B | c.723G= (p.Ser241=) c.654G= (p.Ser218=) | |
| 9 | g.126693305G>T | CA5242391 | LMX1B | c.723G>T (p.Ser241=) c.654G>T (p.Ser218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693305_126693311delinsCAAC | CA2695211435 | LMX1B | c.723_729delinsCAAC (p.Ser242_Lys243delinsAsn) c.654_660delinsCAAC (p.Ser219_Lys220delinsAsn) | |
| 9 | g.126693306T>A | CA199813247 | LMX1B | c.724T>A (p.Ser242Thr) c.655T>A (p.Ser219Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693306T>C | CA374913685 | LMX1B | c.724T>C (p.Ser242Pro) c.655T>C (p.Ser219Pro) | dbSNP |
| 9 | g.126693306T>G | CA374913686 | LMX1B | c.724T>G (p.Ser242Ala) c.655T>G (p.Ser219Ala) | dbSNP gnomAD v4 |
| 9 | g.126693306T= | CA1879478631 | LMX1B | c.724T= (p.Ser242=) c.655T= (p.Ser219=) | |
| 9 | g.126693307C>A | CA374913687 | LMX1B | c.725C>A (p.Ser242Ter) c.656C>A (p.Ser219Ter) | gnomAD v4 |
| 9 | g.126693307C= | CA1879478634 | LMX1B | c.725C= (p.Ser242=) c.656C= (p.Ser219=) | |
| 9 | g.126693307C>G | CA199813258 | LMX1B | c.725C>G (p.Ser242Trp) c.656C>G (p.Ser219Trp) | dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.126693307C>T | CA374913688 | LMX1B | c.725C>T (p.Ser242Leu) c.656C>T (p.Ser219Leu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.126693308G>A | CA467136576 | LMX1B | c.726G>A (p.Ser242=) c.657G>A (p.Ser219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693308G>C | CA5242392 | LMX1B | c.726G>C (p.Ser242=) c.657G>C (p.Ser219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693308G= | CA1630847991 | LMX1B | c.726G= (p.Ser242=) c.657G= (p.Ser219=) | |
| 9 | g.126693308G>T | CA467136577 | LMX1B | c.726G>T (p.Ser242=) c.657G>T (p.Ser219=) | gnomAD v4 |
| 9 | g.126693309A>C | CA374913690 | LMX1B | c.727A>C (p.Lys243Gln) c.658A>C (p.Lys220Gln) | |
| 9 | g.126693309A>G | CA374913689 | LMX1B | c.727A>G (p.Lys243Glu) c.658A>G (p.Lys220Glu) | |
| 9 | g.126693309A>T | CA374913691 | LMX1B | c.727A>T (p.Lys243Ter) c.658A>T (p.Lys220Ter) | |
| 9 | g.126693310del | CA2695211436 | LMX1B | c.728del (p.Lys243SerfsTer?) c.659del (p.Lys220SerfsTer?) | |
| 9 | g.126693310A>C | CA374913692 | LMX1B | c.728A>C (p.Lys243Thr) c.659A>C (p.Lys220Thr) | |
| 9 | g.126693310A>G | CA374913693 | LMX1B | c.728A>G (p.Lys243Arg) c.659A>G (p.Lys220Arg) | |
| 9 | g.126693310A>T | CA374913694 | LMX1B | c.728A>T (p.Lys243Met) c.659A>T (p.Lys220Met) | |
| 9 | g.126693311G>A | CA467136578 | LMX1B | c.729G>A (p.Lys243=) c.660G>A (p.Lys220=) | dbSNP gnomAD v2 |
| 9 | g.126693311G>C | CA374913695 | LMX1B | c.729G>C (p.Lys243Asn) c.660G>C (p.Lys220Asn) | |
| 9 | g.126693311G= | CA1879478640 | LMX1B | c.729G= (p.Lys243=) c.660G= (p.Lys220=) | |
| 9 | g.126693311G>T | CA374913696 | LMX1B | c.729G>T (p.Lys243Asn) c.660G>T (p.Lys220Asn) | |
| 9 | g.126693312C>A | CA374913697 | LMX1B | c.730C>A (p.Pro244Thr) c.661C>A (p.Pro221Thr) | |
| 9 | g.126693312C>G | CA374913698 | LMX1B | c.730C>G (p.Pro244Ala) c.661C>G (p.Pro221Ala) | |
| 9 | g.126693312C>T | CA374913699 | LMX1B | c.730C>T (p.Pro244Ser) c.661C>T (p.Pro221Ser) | |
| 9 | g.126693313del | CA2695211437 | LMX1B | c.731del (p.Pro244LeufsTer?) c.662del (p.Pro221LeufsTer?) | |
| 9 | g.126693313C>A | CA374913700 | LMX1B | c.731C>A (p.Pro244His) c.662C>A (p.Pro221His) | |
| 9 | g.126693313C>G | CA374913701 | LMX1B | c.731C>G (p.Pro244Arg) c.662C>G (p.Pro221Arg) | ClinVar dbSNP |
| 9 | g.126693313C>T | CA374913702 | LMX1B | c.731C>T (p.Pro244Leu) c.662C>T (p.Pro221Leu) | |
| 9 | g.126693314T>A | CA467136579 | LMX1B | c.732T>A (p.Pro244=) c.663T>A (p.Pro221=) | |
| 9 | g.126693314T>C | CA467136580 | LMX1B | c.732T>C (p.Pro244=) c.663T>C (p.Pro221=) | |
| 9 | g.126693314T>G | CA467136581 | LMX1B | c.732T>G (p.Pro244=) c.663T>G (p.Pro221=) | |
| 9 | g.126693315T>A | CA374913705 | LMX1B | c.733T>A (p.Cys245Ser) c.664T>A (p.Cys222Ser) | |
| 9 | g.126693315T>C | CA374913703 | LMX1B | c.733T>C (p.Cys245Arg) c.664T>C (p.Cys222Arg) | |
| 9 | g.126693315T>G | CA374913704 | LMX1B | c.733T>G (p.Cys245Gly) c.664T>G (p.Cys222Gly) | |
| 9 | g.126693316G>A | CA374913706 | LMX1B | c.734G>A (p.Cys245Tyr) c.665G>A (p.Cys222Tyr) | gnomAD v4 |
| 9 | g.126693316G>C | CA374913707 | LMX1B | c.734G>C (p.Cys245Ser) c.665G>C (p.Cys222Ser) | |
| 9 | g.126693316G>T | CA374913708 | LMX1B | c.734G>T (p.Cys245Phe) c.665G>T (p.Cys222Phe) | gnomAD v4 |
| 9 | g.126693317C>A | CA374913709 | LMX1B | c.735C>A (p.Cys245Ter) c.666C>A (p.Cys222Ter) | |
| 9 | g.126693317C= | CA1879478641 | LMX1B | c.735C= (p.Cys245=) c.666C= (p.Cys222=) | |
| 9 | g.126693317C>G | CA374913710 | LMX1B | c.735C>G (p.Cys245Trp) c.666C>G (p.Cys222Trp) | |
| 9 | g.126693317C>T | CA5242393 | LMX1B | c.735C>T (p.Cys245=) c.666C>T (p.Cys222=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693317_126693318delinsAA | CA2695211438 | LMX1B | c.735_736delinsAA (p.Cys245Ter) c.666_667delinsAA (p.Cys222Ter) | |
| 9 | g.126693318C>A | CA467136582 | LMX1B | c.736C>A (p.Arg246=) c.667C>A (p.Arg223=) | |
| 9 | g.126693318C= | CA1879478643 | LMX1B | c.736C= (p.Arg246=) c.667C= (p.Arg223=) | |
| 9 | g.126693318C>G | CA374913711 | LMX1B | c.736C>G (p.Arg246Gly) c.667C>G (p.Arg223Gly) | |
| 9 | g.126693318C>T | CA374913712 | LMX1B | c.736C>T (p.Arg246Ter) c.667C>T (p.Arg223Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.126693319G>A | CA500006 | LMX1B | c.737G>A (p.Arg246Gln) c.668G>A (p.Arg223Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.126693319G>C | CA374913713 | LMX1B | c.737G>C (p.Arg246Pro) c.668G>C (p.Arg223Pro) | ClinVar dbSNP |
| 9 | g.126693319G= | CA1879478649 | LMX1B | c.737G= (p.Arg246=) c.668G= (p.Arg223=) | |
| 9 | g.126693319G>T | CA374913714 | LMX1B | c.737G>T (p.Arg246Leu) c.668G>T (p.Arg223Leu) | gnomAD v4 |