| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.4862773C>A | CA356138330 | MSX1 | c.542C>A (p.Thr181Asn) n.254C>A | |
| 4 | g.4862773C>G | CA356138331 | MSX1 | c.542C>G (p.Thr181Ser) n.254C>G | |
| 4 | g.4862773C>T | CA356138329 | MSX1 | c.542C>T (p.Thr181Ile) n.254C>T | gnomAD v4 |
| 4 | g.4862774C>A | CA438365991 | MSX1 | c.543C>A (p.Thr181=) n.255C>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862774C= | CA1435013646 | MSX1 | c.543C= (p.Thr181=) n.255C= | |
| 4 | g.4862774C>G | CA438365992 | MSX1 | c.543C>G (p.Thr181=) n.255C>G | dbSNP gnomAD v4 |
| 4 | g.4862774C>T | CA2833069 | MSX1 | c.543C>T (p.Thr181=) n.255C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862775G>A | CA2833070 | MSX1 | c.544G>A (p.Ala182Thr) n.256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862775G>C | CA356138332 | MSX1 | c.544G>C (p.Ala182Pro) n.256G>C | |
| 4 | g.4862775G= | CA1435013647 | MSX1 | c.544G= (p.Ala182=) n.256G= | |
| 4 | g.4862775G>T | CA356138333 | MSX1 | c.544G>T (p.Ala182Ser) n.256G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862776C>A | CA356138334 | MSX1 | c.545C>A (p.Ala182Glu) n.257C>A | |
| 4 | g.4862776C= | CA1435013648 | MSX1 | c.545C= (p.Ala182=) n.257C= | |
| 4 | g.4862776C>G | CA356138335 | MSX1 | c.545C>G (p.Ala182Gly) n.257C>G | |
| 4 | g.4862776C>T | CA2833071 | MSX1 | c.545C>T (p.Ala182Val) n.257C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862776_4862777insT | CA2669788567 | MSX1 | c.545_546insT (p.Gln183AlafsTer?) n.257_258insT | gnomAD v4 |
| 4 | g.4862777G>A | CA2833072 | MSX1 | c.546G>A (p.Ala182=) n.258G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.4862777G>C | CA438365996 | MSX1 | c.546G>C (p.Ala182=) n.258G>C | gnomAD v4 |
| 4 | g.4862777G= | CA1435013649 | MSX1 | c.546G= (p.Ala182=) n.258G= | |
| 4 | g.4862777G>T | CA438365998 | MSX1 | c.546G>T (p.Ala182=) n.258G>T | gnomAD v4 |
| 4 | g.4862778C>A | CA356138336 | MSX1 | c.547C>A (p.Gln183Lys) n.259C>A | |
| 4 | g.4862778C>G | CA356138337 | MSX1 | c.547C>G (p.Gln183Glu) n.259C>G | |
| 4 | g.4862778C>T | CA356138338 | MSX1 | c.547C>T (p.Gln183Ter) n.259C>T | ClinVar |
| 4 | g.4862779A>C | CA356138339 | MSX1 | c.548A>C (p.Gln183Pro) n.260A>C | |
| 4 | g.4862779A>G | CA356138340 | MSX1 | c.548A>G (p.Gln183Arg) n.260A>G | |
| 4 | g.4862779A>T | CA356138341 | MSX1 | c.548A>T (p.Gln183Leu) n.260A>T | |
| 4 | g.4862779_4862850del | CA2760244033 | MSX1 | c.548_619del (p.Gln183_Ser207delinsArg) n.260_331del | |
| 4 | g.4862780G>A | CA438366002 | MSX1 | c.549G>A (p.Gln183=) n.261G>A | dbSNP gnomAD v4 |
| 4 | g.4862780G>C | CA356138342 | MSX1 | c.549G>C (p.Gln183His) n.261G>C | |
| 4 | g.4862780G>T | CA356138343 | MSX1 | c.549G>T (p.Gln183His) n.261G>T | |
| 4 | g.4862781C>A | CA356138344 | MSX1 | c.550C>A (p.Leu184Met) n.262C>A | |
| 4 | g.4862781C>G | CA356138345 | MSX1 | c.550C>G (p.Leu184Val) n.262C>G | |
| 4 | g.4862781C>T | CA438366003 | MSX1 | c.550C>T (p.Leu184=) n.262C>T | gnomAD v4 |
| 4 | g.4862782T>A | CA356138346 | MSX1 | c.551T>A (p.Leu184Gln) n.263T>A | |
| 4 | g.4862782T>C | CA356138347 | MSX1 | c.551T>C (p.Leu184Pro) n.263T>C | |
| 4 | g.4862782T>G | CA356138348 | MSX1 | c.551T>G (p.Leu184Arg) n.263T>G | |
| 4 | g.4862783G>A | CA438366005 | MSX1 | c.552G>A (p.Leu184=) n.264G>A | |
| 4 | g.4862783G>C | CA438366006 | MSX1 | c.552G>C (p.Leu184=) n.264G>C | |
| 4 | g.4862783G>T | CA438366007 | MSX1 | c.552G>T (p.Leu184=) n.264G>T | |
| 4 | g.4862784C>A | CA356138349 | MSX1 | c.553C>A (p.Leu185Met) n.265C>A | |
| 4 | g.4862784C>G | CA356138350 | MSX1 | c.553C>G (p.Leu185Val) n.265C>G | |
| 4 | g.4862784C>T | CA438366008 | MSX1 | c.553C>T (p.Leu185=) n.265C>T | |
| 4 | g.4862785T>A | CA356138351 | MSX1 | c.554T>A (p.Leu185Gln) n.266T>A | |
| 4 | g.4862785T>C | CA2833073 | MSX1 | c.554T>C (p.Leu185Pro) n.266T>C | dbSNP ExAC gnomAD v2 |
| 4 | g.4862785T>G | CA356138352 | MSX1 | c.554T>G (p.Leu185Arg) n.266T>G | |
| 4 | g.4862785T= | CA1435013650 | MSX1 | c.554T= (p.Leu185=) n.266T= | |
| 4 | g.4862786G>A | CA438366010 | MSX1 | c.555G>A (p.Leu185=) n.267G>A | gnomAD v4 |
| 4 | g.4862786G>C | CA438366012 | MSX1 | c.555G>C (p.Leu185=) n.267G>C | |
| 4 | g.4862786G>T | CA438366011 | MSX1 | c.555G>T (p.Leu185=) n.267G>T | |
| 4 | g.4862787G>A | CA356138353 | MSX1 | c.556G>A (p.Ala186Thr) n.268G>A | |
| 4 | g.4862787G>C | CA356138354 | MSX1 | c.556G>C (p.Ala186Pro) n.268G>C | |
| 4 | g.4862787G>T | CA356138355 | MSX1 | c.556G>T (p.Ala186Ser) n.268G>T | |
| 4 | g.4862788C>A | CA356138357 | MSX1 | c.557C>A (p.Ala186Glu) n.269C>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862788C= | CA1435013651 | MSX1 | c.557C= (p.Ala186=) n.269C= | |
| 4 | g.4862788C>G | CA356138358 | MSX1 | c.557C>G (p.Ala186Gly) n.269C>G | |
| 4 | g.4862788C>T | CA356138356 | MSX1 | c.557C>T (p.Ala186Val) n.269C>T | ClinVar COSMIC |
| 4 | g.4862789G>A | CA438366014 | MSX1 | c.558G>A (p.Ala186=) n.270G>A | gnomAD v4 |
| 4 | g.4862789G>C | CA438366015 | MSX1 | c.558G>C (p.Ala186=) n.270G>C | dbSNP |
| 4 | g.4862789G= | CA1435013652 | MSX1 | c.558G= (p.Ala186=) n.270G= | |
| 4 | g.4862789G>T | CA438366016 | MSX1 | c.558G>T (p.Ala186=) n.270G>T | dbSNP |
| 4 | g.4862790C>A | CA356138359 | MSX1 | c.559C>A (p.Leu187Met) n.271C>A | |
| 4 | g.4862790C>G | CA356138360 | MSX1 | c.559C>G (p.Leu187Val) n.271C>G | |
| 4 | g.4862790C>T | CA438366017 | MSX1 | c.559C>T (p.Leu187=) n.271C>T | |
| 4 | g.4862791T>A | CA356138361 | MSX1 | c.560T>A (p.Leu187Gln) n.272T>A | |
| 4 | g.4862791T>C | CA356138362 | MSX1 | c.560T>C (p.Leu187Pro) n.272T>C | |
| 4 | g.4862791T>G | CA356138363 | MSX1 | c.560T>G (p.Leu187Arg) n.272T>G | |
| 4 | g.4862792G>A | CA2833074 | MSX1 | c.561G>A (p.Leu187=) n.273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862792G>C | CA438366018 | MSX1 | c.561G>C (p.Leu187=) n.273G>C | |
| 4 | g.4862792G= | CA1435013653 | MSX1 | c.561G= (p.Leu187=) n.273G= | |
| 4 | g.4862792G>T | CA438366019 | MSX1 | c.561G>T (p.Leu187=) n.273G>T | |
| 4 | g.4862793G>A | CA356138366 | MSX1 | c.562G>A (p.Glu188Lys) n.274G>A | |
| 4 | g.4862793G>C | CA356138364 | MSX1 | c.562G>C (p.Glu188Gln) n.274G>C | dbSNP |
| 4 | g.4862793G= | CA1435013654 | MSX1 | c.562G= (p.Glu188=) n.274G= | |
| 4 | g.4862793G>T | CA356138365 | MSX1 | c.562G>T (p.Glu188Ter) n.274G>T | |
| 4 | g.4862794A>C | CA356138367 | MSX1 | c.563A>C (p.Glu188Ala) n.275A>C | |
| 4 | g.4862794A>G | CA356138368 | MSX1 | c.563A>G (p.Glu188Gly) n.275A>G | |
| 4 | g.4862794A>T | CA356138369 | MSX1 | c.563A>T (p.Glu188Val) n.275A>T | |
| 4 | g.4862795G>A | CA438366021 | MSX1 | c.564G>A (p.Glu188=) n.276G>A | |
| 4 | g.4862795G>C | CA356138370 | MSX1 | c.564G>C (p.Glu188Asp) n.276G>C | |
| 4 | g.4862795G>T | CA356138371 | MSX1 | c.564G>T (p.Glu188Asp) n.276G>T | |
| 4 | g.4862796C>A | CA356138372 | MSX1 | c.565C>A (p.Arg189Ser) n.277C>A | |
| 4 | g.4862796C= | CA1435013655 | MSX1 | c.565C= (p.Arg189=) n.277C= | |
| 4 | g.4862796C>G | CA356138374 | MSX1 | c.565C>G (p.Arg189Gly) n.277C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862796C>T | CA356138373 | MSX1 | c.565C>T (p.Arg189Cys) n.277C>T | gnomAD v4 |
| 4 | g.4862797G>A | CA356138375 | MSX1 | c.566G>A (p.Arg189His) n.278G>A | dbSNP gnomAD v4 COSMIC |
| 4 | g.4862797G>C | CA356138376 | MSX1 | c.566G>C (p.Arg189Pro) n.278G>C | |
| 4 | g.4862797G= | CA1435013656 | MSX1 | c.566G= (p.Arg189=) n.278G= | |
| 4 | g.4862797G>T | CA2833075 | MSX1 | c.566G>T (p.Arg189Leu) n.278G>T | dbSNP ExAC gnomAD v4 |
| 4 | g.4862797_4862803dup | CA2586973672 | MSX1 | c.566_572dup (p.Phe191LeufsTer25) n.278_284dup | |
| 4 | g.4862798C>A | CA438366025 | MSX1 | c.567C>A (p.Arg189=) n.279C>A | |
| 4 | g.4862798C>G | CA438366026 | MSX1 | c.567C>G (p.Arg189=) n.279C>G | |
| 4 | g.4862798C>T | CA438366028 | MSX1 | c.567C>T (p.Arg189=) n.279C>T | gnomAD v4 |
| 4 | g.4862799A>C | CA356138377 | MSX1 | c.568A>C (p.Lys190Gln) n.280A>C | |
| 4 | g.4862799A>G | CA356138378 | MSX1 | c.568A>G (p.Lys190Glu) n.280A>G | |
| 4 | g.4862799A>T | CA356138379 | MSX1 | c.568A>T (p.Lys190Ter) n.280A>T | |
| 4 | g.4862800A= | CA1435013657 | MSX1 | c.569A= (p.Lys190=) n.281A= | |
| 4 | g.4862800A>C | CA356138380 | MSX1 | c.569A>C (p.Lys190Thr) n.281A>C | |
| 4 | g.4862800A>G | CA91672003 | MSX1 | c.569A>G (p.Lys190Arg) n.281A>G | dbSNP gnomAD v4 |
| 4 | g.4862800A>T | CA356138381 | MSX1 | c.569A>T (p.Lys190Met) n.281A>T | |
| 4 | g.4862801G>A | CA438366031 | MSX1 | c.570G>A (p.Lys190=) n.282G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862801G>C | CA356138382 | MSX1 | c.570G>C (p.Lys190Asn) n.282G>C | |
| 4 | g.4862801G= | CA1435013658 | MSX1 | c.570G= (p.Lys190=) n.282G= | |
| 4 | g.4862801G>T | CA356138383 | MSX1 | c.570G>T (p.Lys190Asn) n.282G>T | |
| 4 | g.4862802T>A | CA356138386 | MSX1 | c.571T>A (p.Phe191Ile) n.283T>A | |
| 4 | g.4862802T>C | CA356138385 | MSX1 | c.571T>C (p.Phe191Leu) n.283T>C | |
| 4 | g.4862802T>G | CA356138384 | MSX1 | c.571T>G (p.Phe191Val) n.283T>G | |
| 4 | g.4862803T>A | CA356138387 | MSX1 | c.572T>A (p.Phe191Tyr) n.284T>A | |
| 4 | g.4862803T>C | CA356138388 | MSX1 | c.572T>C (p.Phe191Ser) n.284T>C | |
| 4 | g.4862803T>G | CA356138389 | MSX1 | c.572T>G (p.Phe191Cys) n.284T>G | |
| 4 | g.4862804C>A | CA356138390 | MSX1 | c.573C>A (p.Phe191Leu) n.285C>A | |
| 4 | g.4862804C>G | CA356138391 | MSX1 | c.573C>G (p.Phe191Leu) n.285C>G | |
| 4 | g.4862804C>T | CA438366033 | MSX1 | c.573C>T (p.Phe191=) n.285C>T | gnomAD v4 |
| 4 | g.4862805C>A | CA356138392 | MSX1 | c.574C>A (p.Arg192Ser) n.286C>A | |
| 4 | g.4862805C>G | CA356138393 | MSX1 | c.574C>G (p.Arg192Gly) n.286C>G | |
| 4 | g.4862805C>T | CA356138394 | MSX1 | c.574C>T (p.Arg192Cys) n.286C>T | dbSNP gnomAD v4 COSMIC |
| 4 | g.4862806G>A | CA91672015 | MSX1 | c.575G>A (p.Arg192His) n.287G>A | dbSNP gnomAD v4 |
| 4 | g.4862806G>C | CA356138395 | MSX1 | c.575G>C (p.Arg192Pro) n.287G>C | |
| 4 | g.4862806G= | CA1435013659 | MSX1 | c.575G= (p.Arg192=) n.287G= | |
| 4 | g.4862806G>T | CA356138396 | MSX1 | c.575G>T (p.Arg192Leu) n.287G>T | dbSNP gnomAD v4 |
| 4 | g.4862807C>A | CA438366035 | MSX1 | c.576C>A (p.Arg192=) n.288C>A | |
| 4 | g.4862807C= | CA1435013660 | MSX1 | c.576C= (p.Arg192=) n.288C= | |
| 4 | g.4862807C>G | CA2833077 | MSX1 | c.576C>G (p.Arg192=) n.288C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862807C>T | CA2833076 | MSX1 | c.576C>T (p.Arg192=) n.288C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862807_4862808insTAG | CA2499217211 | MSX1 | c.576_577insTAG n.288_289insTAG | ClinVar dbSNP |
| 4 | g.4862808C>A | CA356138398 | MSX1 | c.577C>A (p.Gln193Lys) n.289C>A | COSMIC |
| 4 | g.4862808C= | CA1435013661 | MSX1 | c.577C= (p.Gln193=) n.289C= | |
| 4 | g.4862808C>G | CA356138397 | MSX1 | c.577C>G (p.Gln193Glu) n.289C>G | |
| 4 | g.4862808C>T | CA124426 | MSX1 | c.577C>T (p.Gln193Ter) n.289C>T | ClinVar dbSNP |
| 4 | g.4862809A>C | CA356138399 | MSX1 | c.578A>C (p.Gln193Pro) n.290A>C | |
| 4 | g.4862809A>G | CA356138400 | MSX1 | c.578A>G (p.Gln193Arg) n.290A>G | gnomAD v4 |
| 4 | g.4862809A>T | CA356138401 | MSX1 | c.578A>T (p.Gln193Leu) n.290A>T | |
| 4 | g.4862810G>A | CA438366036 | MSX1 | c.579G>A (p.Gln193=) n.291G>A | |
| 4 | g.4862810G>C | CA356138402 | MSX1 | c.579G>C (p.Gln193His) n.291G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862810G= | CA1435013662 | MSX1 | c.579G= (p.Gln193=) n.291G= | |
| 4 | g.4862810G>T | CA356138403 | MSX1 | c.579G>T (p.Gln193His) n.291G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862811A>C | CA356138404 | MSX1 | c.580A>C (p.Lys194Gln) n.292A>C | |
| 4 | g.4862811A>G | CA356138405 | MSX1 | c.580A>G (p.Lys194Glu) n.292A>G | |
| 4 | g.4862811A>T | CA356138406 | MSX1 | c.580A>T (p.Lys194Ter) n.292A>T | |
| 4 | g.4862812A= | CA1435013663 | MSX1 | c.581A= (p.Lys194=) n.293A= | |
| 4 | g.4862812A>C | CA356138407 | MSX1 | c.581A>C (p.Lys194Thr) n.293A>C | |
| 4 | g.4862812A>G | CA2833078 | MSX1 | c.581A>G (p.Lys194Arg) n.293A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862812A>T | CA356138408 | MSX1 | c.581A>T (p.Lys194Met) n.293A>T | |
| 4 | g.4862813G>A | CA2833079 | MSX1 | c.582G>A (p.Lys194=) n.294G>A | dbSNP ExAC gnomAD v2 |
| 4 | g.4862813G>C | CA356138409 | MSX1 | c.582G>C (p.Lys194Asn) n.294G>C | |
| 4 | g.4862813G= | CA1435013664 | MSX1 | c.582G= (p.Lys194=) n.294G= | |
| 4 | g.4862813G>T | CA356138410 | MSX1 | c.582G>T (p.Lys194Asn) n.294G>T | gnomAD v4 |
| 4 | g.4862814C>A | CA356138412 | MSX1 | c.583C>A (p.Gln195Lys) n.295C>A | gnomAD v4 COSMIC |
| 4 | g.4862814C>G | CA356138413 | MSX1 | c.583C>G (p.Gln195Glu) n.295C>G | |
| 4 | g.4862814C>T | CA356138411 | MSX1 | c.583C>T (p.Gln195Ter) n.295C>T | |
| 4 | g.4862815A>C | CA356138414 | MSX1 | c.584A>C (p.Gln195Pro) n.296A>C | gnomAD v4 |
| 4 | g.4862815A>G | CA356138415 | MSX1 | c.584A>G (p.Gln195Arg) n.296A>G | |
| 4 | g.4862815A>T | CA356138416 | MSX1 | c.584A>T (p.Gln195Leu) n.296A>T | |
| 4 | g.4862816G>A | CA438366040 | MSX1 | c.585G>A (p.Gln195=) n.297G>A | |
| 4 | g.4862816G>C | CA356138417 | MSX1 | c.585G>C (p.Gln195His) n.297G>C | |
| 4 | g.4862816G>T | CA356138418 | MSX1 | c.585G>T (p.Gln195His) n.297G>T | |
| 4 | g.4862817T>A | CA356138419 | MSX1 | c.586T>A (p.Tyr196Asn) n.298T>A | |
| 4 | g.4862817T>C | CA356138420 | MSX1 | c.586T>C (p.Tyr196His) n.298T>C | |
| 4 | g.4862817T>G | CA356138421 | MSX1 | c.586T>G (p.Tyr196Asp) n.298T>G | |
| 4 | g.4862818A>C | CA356138422 | MSX1 | c.587A>C (p.Tyr196Ser) n.299A>C | |
| 4 | g.4862818A>G | CA356138423 | MSX1 | c.587A>G (p.Tyr196Cys) n.299A>G | |
| 4 | g.4862818A>T | CA356138424 | MSX1 | c.587A>T (p.Tyr196Phe) n.299A>T | |
| 4 | g.4862819C>A | CA356138425 | MSX1 | c.588C>A (p.Tyr196Ter) n.300C>A | |
| 4 | g.4862819C= | CA1435013665 | MSX1 | c.588C= (p.Tyr196=) n.300C= | |
| 4 | g.4862819C>G | CA356138426 | MSX1 | c.588C>G (p.Tyr196Ter) n.300C>G | |
| 4 | g.4862819C>T | CA438366044 | MSX1 | c.588C>T (p.Tyr196=) n.300C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862821_4862825dup | CA2586973673 | MSX1 | c.590_594dup (p.Ile199CysfsTer20) n.302_306dup | |
| 4 | g.4862820C>A | CA356138427 | MSX1 | c.589C>A (p.Leu197Met) n.301C>A | |
| 4 | g.4862820C>G | CA356138428 | MSX1 | c.589C>G (p.Leu197Val) n.301C>G | |
| 4 | g.4862820C>T | CA438366045 | MSX1 | c.589C>T (p.Leu197=) n.301C>T | |
| 4 | g.4862821T>A | CA356138429 | MSX1 | c.590T>A (p.Leu197Gln) n.302T>A | |
| 4 | g.4862821T>C | CA356138430 | MSX1 | c.590T>C (p.Leu197Pro) n.302T>C | |
| 4 | g.4862821T>G | CA356138431 | MSX1 | c.590T>G (p.Leu197Arg) n.302T>G | |
| 4 | g.4862822G>A | CA438366047 | MSX1 | c.591G>A (p.Leu197=) n.303G>A | |
| 4 | g.4862822G>C | CA438366049 | MSX1 | c.591G>C (p.Leu197=) n.303G>C | |
| 4 | g.4862822G>T | CA438366051 | MSX1 | c.591G>T (p.Leu197=) n.303G>T | |
| 4 | g.4862823T>A | CA356138432 | MSX1 | c.592T>A (p.Ser198Thr) n.304T>A | |
| 4 | g.4862823T>C | CA356138433 | MSX1 | c.592T>C (p.Ser198Pro) n.304T>C | |
| 4 | g.4862823T>G | CA356138434 | MSX1 | c.592T>G (p.Ser198Ala) n.304T>G | |
| 4 | g.4862824C>A | CA356138435 | MSX1 | c.593C>A (p.Ser198Tyr) n.305C>A | |
| 4 | g.4862824C>G | CA356138436 | MSX1 | c.593C>G (p.Ser198Cys) n.305C>G | |
| 4 | g.4862824C>T | CA356138437 | MSX1 | c.593C>T (p.Ser198Phe) n.305C>T | |
| 4 | g.4862825C>A | CA438366052 | MSX1 | c.594C>A (p.Ser198=) n.306C>A | |
| 4 | g.4862825C>G | CA438366054 | MSX1 | c.594C>G (p.Ser198=) n.306C>G | |
| 4 | g.4862825C>T | CA438366055 | MSX1 | c.594C>T (p.Ser198=) n.306C>T | |
| 4 | g.4862826A= | CA1435013666 | MSX1 | c.595A= (p.Ile199=) n.307A= | |
| 4 | g.4862826A>C | CA356138438 | MSX1 | c.595A>C (p.Ile199Leu) n.307A>C | |
| 4 | g.4862826A>G | CA356138439 | MSX1 | c.595A>G (p.Ile199Val) n.307A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862826A>T | CA356138440 | MSX1 | c.595A>T (p.Ile199Phe) n.307A>T | |
| 4 | g.4862827T>A | CA356138442 | MSX1 | c.596T>A (p.Ile199Asn) n.308T>A | |
| 4 | g.4862827T>C | CA356138443 | MSX1 | c.596T>C (p.Ile199Thr) n.308T>C | |
| 4 | g.4862827T>G | CA356138441 | MSX1 | c.596T>G (p.Ile199Ser) n.308T>G | |
| 4 | g.4862828C>A | CA438366059 | MSX1 | c.597C>A (p.Ile199=) n.309C>A | |
| 4 | g.4862828C= | CA1435013667 | MSX1 | c.597C= (p.Ile199=) n.309C= | |
| 4 | g.4862828C>G | CA356138444 | MSX1 | c.597C>G (p.Ile199Met) n.309C>G | |
| 4 | g.4862828C>T | CA2833080 | MSX1 | c.597C>T (p.Ile199=) n.309C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862829G>A | CA356138445 | MSX1 | c.598G>A (p.Ala200Thr) n.310G>A | gnomAD v4 |
| 4 | g.4862829G>C | CA356138447 | MSX1 | c.598G>C (p.Ala200Pro) n.310G>C | |
| 4 | g.4862829G>T | CA356138446 | MSX1 | c.598G>T (p.Ala200Ser) n.310G>T | |
| 4 | g.4862830C>A | CA356138448 | MSX1 | c.599C>A (p.Ala200Asp) n.311C>A | COSMIC |
| 4 | g.4862830C= | CA1435013668 | MSX1 | c.599C= (p.Ala200=) n.311C= | |
| 4 | g.4862830C>G | CA356138449 | MSX1 | c.599C>G (p.Ala200Gly) n.311C>G | |
| 4 | g.4862830C>T | CA356138450 | MSX1 | c.599C>T (p.Ala200Val) n.311C>T | ClinVar dbSNP |
| 4 | g.4862831C>A | CA438366061 | MSX1 | c.600C>A (p.Ala200=) n.312C>A | |
| 4 | g.4862831C= | CA1435013669 | MSX1 | c.600C= (p.Ala200=) n.312C= | |
| 4 | g.4862831C>G | CA438366062 | MSX1 | c.600C>G (p.Ala200=) n.312C>G | |
| 4 | g.4862831C>T | CA438366063 | MSX1 | c.600C>T (p.Ala200=) n.312C>T | gnomAD v4 |
| 4 | g.4862832G>A | CA356138451 | MSX1 | c.601G>A (p.Glu201Lys) n.313G>A | |
| 4 | g.4862832G>C | CA356138452 | MSX1 | c.601G>C (p.Glu201Gln) n.313G>C | gnomAD v4 |
| 4 | g.4862832G>T | CA356138453 | MSX1 | c.601G>T (p.Glu201Ter) n.313G>T | |
| 4 | g.4862833_4862834dup | CA549707243 | MSX1 | c.602_603dup (p.Arg202SerfsTer16) n.314_315dup | dbSNP gnomAD v2 |
| 4 | g.4862833A>C | CA356138454 | MSX1 | c.602A>C (p.Glu201Ala) n.314A>C | |
| 4 | g.4862833A>G | CA356138455 | MSX1 | c.602A>G (p.Glu201Gly) n.314A>G | |
| 4 | g.4862833A>T | CA356138456 | MSX1 | c.602A>T (p.Glu201Val) n.314A>T | |
| 4 | g.4862834G>A | CA438366065 | MSX1 | c.603G>A (p.Glu201=) n.315G>A | |
| 4 | g.4862834G>C | CA356138457 | MSX1 | c.603G>C (p.Glu201Asp) n.315G>C | |
| 4 | g.4862834G>T | CA356138458 | MSX1 | c.603G>T (p.Glu201Asp) n.315G>T | |
| 4 | g.4862839_4862840del | CA2586973674 | MSX1 | c.608_609del (p.Ala203GlyfsTer10) n.320_321del | |
| 4 | g.4862835C>A | CA356138460 | MSX1 | c.604C>A (p.Arg202Ser) n.316C>A | |
| 4 | g.4862835C= | CA1435013670 | MSX1 | c.604C= (p.Arg202=) n.316C= | |
| 4 | g.4862835C>G | CA2833081 | MSX1 | c.604C>G (p.Arg202Gly) n.316C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862835C>T | CA356138459 | MSX1 | c.604C>T (p.Arg202Cys) n.316C>T | gnomAD v4 |
| 4 | g.4862836G>A | CA356138461 | MSX1 | c.605G>A (p.Arg202His) n.317G>A | ClinVar dbSNP |
| 4 | g.4862836G>C | CA124423 | MSX1 | c.605G>C (p.Arg202Pro) n.317G>C | ClinVar dbSNP |
| 4 | g.4862836G= | CA1435013671 | MSX1 | c.605G= (p.Arg202=) n.317G= | |
| 4 | g.4862836G>T | CA356138462 | MSX1 | c.605G>T (p.Arg202Leu) n.317G>T | |
| 4 | g.4862837C>A | CA438366069 | MSX1 | c.606C>A (p.Arg202=) n.318C>A | gnomAD v4 |
| 4 | g.4862837C>G | CA438366070 | MSX1 | c.606C>G (p.Arg202=) n.318C>G | |
| 4 | g.4862837C>T | CA438366071 | MSX1 | c.606C>T (p.Arg202=) n.318C>T | gnomAD v4 |
| 4 | g.4862838G>A | CA356138463 | MSX1 | c.607G>A (p.Ala203Thr) n.319G>A | |
| 4 | g.4862838G>C | CA356138464 | MSX1 | c.607G>C (p.Ala203Pro) n.319G>C | |
| 4 | g.4862838G= | CA1435013672 | MSX1 | c.607G= (p.Ala203=) n.319G= | |
| 4 | g.4862838G>T | CA2833082 | MSX1 | c.607G>T (p.Ala203Ser) n.319G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862839C>A | CA356138465 | MSX1 | c.608C>A (p.Ala203Glu) n.320C>A | |
| 4 | g.4862839C= | CA1435013673 | MSX1 | c.608C= (p.Ala203=) n.320C= | |
| 4 | g.4862839C>G | CA356138466 | MSX1 | c.608C>G (p.Ala203Gly) n.320C>G | dbSNP |
| 4 | g.4862839C>T | CA356138467 | MSX1 | c.608C>T (p.Ala203Val) n.320C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862840G>A | CA438366156 | MSX1 | c.609G>A (p.Ala203=) n.321G>A | |
| 4 | g.4862840G>C | CA438366157 | MSX1 | c.609G>C (p.Ala203=) n.321G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862840G= | CA1435013674 | MSX1 | c.609G= (p.Ala203=) n.321G= | |
| 4 | g.4862840G>T | CA438366158 | MSX1 | c.609G>T (p.Ala203=) n.321G>T | dbSNP gnomAD v2 |
| 4 | g.4862841G>A | CA356138468 | MSX1 | c.610G>A (p.Glu204Lys) n.322G>A | gnomAD v4 |
| 4 | g.4862841G>C | CA356138469 | MSX1 | c.610G>C (p.Glu204Gln) n.322G>C | |
| 4 | g.4862841G>T | CA356138470 | MSX1 | c.610G>T (p.Glu204Ter) n.322G>T | |
| 4 | g.4862842A>C | CA356138473 | MSX1 | c.611A>C (p.Glu204Ala) n.323A>C | |
| 4 | g.4862842A>G | CA356138472 | MSX1 | c.611A>G (p.Glu204Gly) n.323A>G | |
| 4 | g.4862842A>T | CA356138471 | MSX1 | c.611A>T (p.Glu204Val) n.323A>T | |
| 4 | g.4862843G>A | CA438366159 | MSX1 | c.612G>A (p.Glu204=) n.324G>A | |
| 4 | g.4862843G>C | CA356138475 | MSX1 | c.612G>C (p.Glu204Asp) n.324G>C | dbSNP gnomAD v4 |
| 4 | g.4862843G= | CA1435013675 | MSX1 | c.612G= (p.Glu204=) n.324G= | |
| 4 | g.4862843G>T | CA356138474 | MSX1 | c.612G>T (p.Glu204Asp) n.324G>T | |
| 4 | g.4862844T>A | CA356138476 | MSX1 | c.613T>A (p.Phe205Ile) n.325T>A | |
| 4 | g.4862844T>C | CA2833083 | MSX1 | c.613T>C (p.Phe205Leu) n.325T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862844T>G | CA356138477 | MSX1 | c.613T>G (p.Phe205Val) n.325T>G | |
| 4 | g.4862844T= | CA1435013676 | MSX1 | c.613T= (p.Phe205=) n.325T= | |
| 4 | g.4862845T>A | CA356138478 | MSX1 | c.614T>A (p.Phe205Tyr) n.326T>A | |
| 4 | g.4862845T>C | CA356138479 | MSX1 | c.614T>C (p.Phe205Ser) n.326T>C | gnomAD v4 |
| 4 | g.4862845T>G | CA356138480 | MSX1 | c.614T>G (p.Phe205Cys) n.326T>G | |
| 4 | g.4862846C>A | CA356138481 | MSX1 | c.615C>A (p.Phe205Leu) n.327C>A | |
| 4 | g.4862846C= | CA1435013677 | MSX1 | c.615C= (p.Phe205=) n.327C= | |
| 4 | g.4862846C>G | CA356138482 | MSX1 | c.615C>G (p.Phe205Leu) n.327C>G | |
| 4 | g.4862846C>T | CA2833084 | MSX1 | c.615C>T (p.Phe205=) n.327C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862847T>A | CA356138483 | MSX1 | c.616T>A (p.Ser206Thr) n.328T>A | |
| 4 | g.4862847T>C | CA356138484 | MSX1 | c.616T>C (p.Ser206Pro) n.328T>C | |
| 4 | g.4862847T>G | CA356138485 | MSX1 | c.616T>G (p.Ser206Ala) n.328T>G | gnomAD v4 |
| 4 | g.4862848C>A | CA356138487 | MSX1 | c.617C>A (p.Ser206Tyr) n.329C>A | |
| 4 | g.4862848C= | CA1435013678 | MSX1 | c.617C= (p.Ser206=) n.329C= | |
| 4 | g.4862848C>G | CA2833085 | MSX1 | c.617C>G (p.Ser206Cys) n.329C>G | dbSNP ExAC gnomAD v4 |
| 4 | g.4862848C>T | CA356138486 | MSX1 | c.617C>T (p.Ser206Phe) n.329C>T | |
| 4 | g.4862849C>A | CA438366161 | MSX1 | c.618C>A (p.Ser206=) n.330C>A | |
| 4 | g.4862849C= | CA1435013679 | MSX1 | c.618C= (p.Ser206=) n.330C= | |
| 4 | g.4862849C>G | CA438366160 | MSX1 | c.618C>G (p.Ser206=) n.330C>G | |
| 4 | g.4862849C>T | CA2833086 | MSX1 | c.618C>T (p.Ser206=) n.330C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862850A>C | CA356138488 | MSX1 | c.619A>C (p.Ser207Arg) n.331A>C | |
| 4 | g.4862850A>G | CA356138489 | MSX1 | c.619A>G (p.Ser207Gly) n.331A>G | gnomAD v4 |
| 4 | g.4862850A>T | CA356138490 | MSX1 | c.619A>T (p.Ser207Cys) n.331A>T | |
| 4 | g.4862851G>A | CA356138491 | MSX1 | c.620G>A (p.Ser207Asn) n.332G>A | |
| 4 | g.4862851G>C | CA356138492 | MSX1 | c.620G>C (p.Ser207Thr) n.332G>C | |
| 4 | g.4862851G>T | CA356138493 | MSX1 | c.620G>T (p.Ser207Ile) n.332G>T | |
| 4 | g.4862852C>A | CA356138494 | MSX1 | c.621C>A (p.Ser207Arg) n.333C>A | |
| 4 | g.4862852C>G | CA356138495 | MSX1 | c.621C>G (p.Ser207Arg) n.333C>G | |
| 4 | g.4862852C>T | CA438366162 | MSX1 | c.621C>T (p.Ser207=) n.333C>T | |
| 4 | g.4862853T>A | CA356138496 | MSX1 | c.622T>A (p.Ser208Thr) n.334T>A | |
| 4 | g.4862853T>C | CA356138497 | MSX1 | c.622T>C (p.Ser208Pro) n.334T>C | |
| 4 | g.4862853T>G | CA356138498 | MSX1 | c.622T>G (p.Ser208Ala) n.334T>G | |
| 4 | g.4862854C>A | CA124428 | MSX1 | c.623C>A (p.Ser208Ter) n.335C>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.4862854C= | CA1435013680 | MSX1 | c.623C= (p.Ser208=) n.335C= | |
| 4 | g.4862854C>G | CA2833087 | MSX1 | c.623C>G (p.Ser208Trp) n.335C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862854C>T | CA356138499 | MSX1 | c.623C>T (p.Ser208Leu) n.335C>T | gnomAD v4 COSMIC |
| 4 | g.4862855G>A | CA91672108 | MSX1 | c.624G>A (p.Ser208=) n.336G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.4862855G>C | CA2833089 | MSX1 | c.624G>C (p.Ser208=) n.336G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862855G= | CA1435013681 | MSX1 | c.624G= (p.Ser208=) n.336G= | |
| 4 | g.4862855G>T | CA2833088 | MSX1 | c.624G>T (p.Ser208=) n.336G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862856C>A | CA356138500 | MSX1 | c.625C>A (p.Leu209Ile) n.337C>A | |
| 4 | g.4862856C>G | CA356138501 | MSX1 | c.625C>G (p.Leu209Val) n.337C>G | |
| 4 | g.4862856C>T | CA356138502 | MSX1 | c.625C>T (p.Leu209Phe) n.337C>T | |
| 4 | g.4862857T>A | CA356138503 | MSX1 | c.626T>A (p.Leu209His) n.338T>A | |
| 4 | g.4862857T>C | CA356138504 | MSX1 | c.626T>C (p.Leu209Pro) n.338T>C | |
| 4 | g.4862857T>G | CA356138505 | MSX1 | c.626T>G (p.Leu209Arg) n.338T>G | |
| 4 | g.4862858C>A | CA438366163 | MSX1 | c.627C>A (p.Leu209=) n.339C>A | |
| 4 | g.4862858C= | CA1435013682 | MSX1 | c.627C= (p.Leu209=) n.339C= | |
| 4 | g.4862858C>G | CA438366164 | MSX1 | c.627C>G (p.Leu209=) n.339C>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862858C>T | CA2833090 | MSX1 | c.627C>T (p.Leu209=) n.339C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862859A>C | CA356138506 | MSX1 | c.628A>C (p.Ser210Arg) n.340A>C | |
| 4 | g.4862859A>G | CA356138507 | MSX1 | c.628A>G (p.Ser210Gly) n.340A>G | |
| 4 | g.4862859A>T | CA356138508 | MSX1 | c.628A>T (p.Ser210Cys) n.340A>T | gnomAD v4 |
| 4 | g.4862860G>A | CA2833091 | MSX1 | c.629G>A (p.Ser210Asn) n.341G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862860G>C | CA356138510 | MSX1 | c.629G>C (p.Ser210Thr) n.341G>C | |
| 4 | g.4862860G= | CA1435013683 | MSX1 | c.629G= (p.Ser210=) n.341G= | |
| 4 | g.4862860G>T | CA356138509 | MSX1 | c.629G>T (p.Ser210Ile) n.341G>T | |
| 4 | g.4862861C>A | CA356138511 | MSX1 | c.630C>A (p.Ser210Arg) n.342C>A | |
| 4 | g.4862861C>G | CA356138512 | MSX1 | c.630C>G (p.Ser210Arg) n.342C>G | |
| 4 | g.4862861C>T | CA438366165 | MSX1 | c.630C>T (p.Ser210=) n.342C>T | |
| 4 | g.4862862C>A | CA356138513 | MSX1 | c.631C>A (p.Leu211Ile) n.343C>A | |
| 4 | g.4862862C>G | CA356138514 | MSX1 | c.631C>G (p.Leu211Val) n.343C>G | |
| 4 | g.4862862C>T | CA356138515 | MSX1 | c.631C>T (p.Leu211Phe) n.343C>T | |
| 4 | g.4862863T>A | CA356138516 | MSX1 | c.632T>A (p.Leu211His) n.344T>A | |
| 4 | g.4862863T>C | CA356138517 | MSX1 | c.632T>C (p.Leu211Pro) n.344T>C | |
| 4 | g.4862863T>G | CA356138518 | MSX1 | c.632T>G (p.Leu211Arg) n.344T>G | |
| 4 | g.4862864C>A | CA438366166 | MSX1 | c.633C>A (p.Leu211=) n.345C>A | |
| 4 | g.4862864C>G | CA438366167 | MSX1 | c.633C>G (p.Leu211=) n.345C>G | |
| 4 | g.4862864C>T | CA438366168 | MSX1 | c.633C>T (p.Leu211=) n.345C>T | |
| 4 | g.4862865A= | CA1435013684 | MSX1 | c.634A= (p.Thr212=) n.346A= | |
| 4 | g.4862865A>C | CA356138519 | MSX1 | c.634A>C (p.Thr212Pro) n.346A>C | |
| 4 | g.4862865A>G | CA356138520 | MSX1 | c.634A>G (p.Thr212Ala) n.346A>G | |
| 4 | g.4862865A>T | CA91672119 | MSX1 | c.634A>T (p.Thr212Ser) n.346A>T | dbSNP |
| 4 | g.4862866C>A | CA356138522 | MSX1 | c.635C>A (p.Thr212Asn) n.347C>A | |
| 4 | g.4862866C>G | CA356138523 | MSX1 | c.635C>G (p.Thr212Ser) n.347C>G | |
| 4 | g.4862866C>T | CA356138521 | MSX1 | c.635C>T (p.Thr212Ile) n.347C>T | |
| 4 | g.4862867T>A | CA438366169 | MSX1 | c.636T>A (p.Thr212=) n.348T>A | |
| 4 | g.4862867T>C | CA438366170 | MSX1 | c.636T>C (p.Thr212=) n.348T>C | dbSNP gnomAD v4 |
| 4 | g.4862867T>G | CA438366171 | MSX1 | c.636T>G (p.Thr212=) n.348T>G | |
| 4 | g.4862867T= | CA1435013685 | MSX1 | c.636T= (p.Thr212=) n.348T= | |
| 4 | g.4862868G>A | CA356138524 | MSX1 | c.637G>A (p.Glu213Lys) n.349G>A | |
| 4 | g.4862868G>C | CA356138525 | MSX1 | c.637G>C (p.Glu213Gln) n.349G>C | |
| 4 | g.4862868G>T | CA356138526 | MSX1 | c.637G>T (p.Glu213Ter) n.349G>T | |
| 4 | g.4862869A>C | CA356138527 | MSX1 | c.638A>C (p.Glu213Ala) n.350A>C | |
| 4 | g.4862869A>G | CA356138528 | MSX1 | c.638A>G (p.Glu213Gly) n.350A>G | |
| 4 | g.4862869A>T | CA356138529 | MSX1 | c.638A>T (p.Glu213Val) n.350A>T | |
| 4 | g.4862870G>A | CA438366172 | MSX1 | c.639G>A (p.Glu213=) n.351G>A | |
| 4 | g.4862870G>C | CA356138530 | MSX1 | c.639G>C (p.Glu213Asp) n.351G>C | |
| 4 | g.4862870G>T | CA356138531 | MSX1 | c.639G>T (p.Glu213Asp) n.351G>T | |
| 4 | g.4862871A>C | CA356138532 | MSX1 | c.640A>C (p.Thr214Pro) n.352A>C | |
| 4 | g.4862871A>G | CA356138533 | MSX1 | c.640A>G (p.Thr214Ala) n.352A>G | |
| 4 | g.4862871A>T | CA356138534 | MSX1 | c.640A>T (p.Thr214Ser) n.352A>T | |
| 4 | g.4862872C>A | CA356138535 | MSX1 | c.641C>A (p.Thr214Lys) n.353C>A | |
| 4 | g.4862872C= | CA1435013686 | MSX1 | c.641C= (p.Thr214=) n.353C= | |
| 4 | g.4862872C>G | CA356138536 | MSX1 | c.641C>G (p.Thr214Arg) n.353C>G | |
| 4 | g.4862872C>T | CA2833092 | MSX1 | c.641C>T (p.Thr214Met) n.353C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862873G>A | CA2833093 | MSX1 | c.642G>A (p.Thr214=) n.354G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862873G>C | CA438366173 | MSX1 | c.642G>C (p.Thr214=) n.354G>C | gnomAD v4 |
| 4 | g.4862873G= | CA1435013687 | MSX1 | c.642G= (p.Thr214=) n.354G= | |
| 4 | g.4862873G>T | CA438366174 | MSX1 | c.642G>T (p.Thr214=) n.354G>T | gnomAD v4 |