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 |
|---|---|---|---|---|---|
| 4 | g.4862779_4862850del | CA2760244033 | MSX1 | c.548_619del (p.Gln183_Ser207delinsArg) n.260_331del | |
| 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 |
| 4 | g.4862874C>A | CA356138537 | MSX1 | c.643C>A (p.Gln215Lys) n.355C>A | |
| 4 | g.4862874C>G | CA356138538 | MSX1 | c.643C>G (p.Gln215Glu) n.355C>G | |
| 4 | g.4862874C>T | CA356138539 | MSX1 | c.643C>T (p.Gln215Ter) n.355C>T | |
| 4 | g.4862875A= | CA1435013688 | MSX1 | c.644A= (p.Gln215=) n.356A= | |
| 4 | g.4862875A>C | CA356138540 | MSX1 | c.644A>C (p.Gln215Pro) n.356A>C | |
| 4 | g.4862875A>G | CA356138541 | MSX1 | c.644A>G (p.Gln215Arg) n.356A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862875A>T | CA356138542 | MSX1 | c.644A>T (p.Gln215Leu) n.356A>T | |
| 4 | g.4862875dup | CA2586973675 | MSX1 | c.644dup (p.Val216GlyfsTer?) n.356dup | |
| 4 | g.4862876G>A | CA438366175 | MSX1 | c.645G>A (p.Gln215=) n.357G>A | gnomAD v4 |
| 4 | g.4862876G>C | CA356138543 | MSX1 | c.645G>C (p.Gln215His) n.357G>C | |
| 4 | g.4862876G>T | CA356138544 | MSX1 | c.645G>T (p.Gln215His) n.357G>T | |
| 4 | g.4862877G>A | CA356138545 | MSX1 | c.646G>A (p.Val216Met) n.358G>A | |
| 4 | g.4862877G>C | CA356138546 | MSX1 | c.646G>C (p.Val216Leu) n.358G>C | |
| 4 | g.4862877G>T | CA356138547 | MSX1 | c.646G>T (p.Val216Leu) n.358G>T | |
| 4 | g.4862878T>A | CA356138548 | MSX1 | c.647T>A (p.Val216Glu) n.359T>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862878T>C | CA356138549 | MSX1 | c.647T>C (p.Val216Ala) n.359T>C | |
| 4 | g.4862878T>G | CA356138550 | MSX1 | c.647T>G (p.Val216Gly) n.359T>G | |
| 4 | g.4862878T= | CA1435013689 | MSX1 | c.647T= (p.Val216=) n.359T= | |
| 4 | g.4862879G>A | CA438366176 | MSX1 | c.648G>A (p.Val216=) n.360G>A | |
| 4 | g.4862879G>C | CA438366177 | MSX1 | c.648G>C (p.Val216=) n.360G>C | |
| 4 | g.4862879G>T | CA438366178 | MSX1 | c.648G>T (p.Val216=) n.360G>T | |
| 4 | g.4862880A>C | CA356138553 | MSX1 | c.649A>C (p.Lys217Gln) n.361A>C | |
| 4 | g.4862880A>G | CA356138552 | MSX1 | c.649A>G (p.Lys217Glu) n.361A>G | |
| 4 | g.4862880A>T | CA356138551 | MSX1 | c.649A>T (p.Lys217Ter) n.361A>T | |
| 4 | g.4862881A>C | CA356138556 | MSX1 | c.650A>C (p.Lys217Thr) n.362A>C | |
| 4 | g.4862881A>G | CA356138554 | MSX1 | c.650A>G (p.Lys217Arg) n.362A>G | ClinVar |
| 4 | g.4862881A>T | CA356138555 | MSX1 | c.650A>T (p.Lys217Met) n.362A>T | |
| 4 | g.4862882G>A | CA438366179 | MSX1 | c.651G>A (p.Lys217=) n.363G>A | dbSNP gnomAD v4 |
| 4 | g.4862882G>C | CA356138557 | MSX1 | c.651G>C (p.Lys217Asn) n.363G>C | |
| 4 | g.4862882G= | CA1435013690 | MSX1 | c.651G= (p.Lys217=) n.363G= | |
| 4 | g.4862882G>T | CA356138558 | MSX1 | c.651G>T (p.Lys217Asn) n.363G>T | |
| 4 | g.4862883A>C | CA356138559 | MSX1 | c.652A>C (p.Ile218Leu) n.364A>C | |
| 4 | g.4862883A>G | CA356138560 | MSX1 | c.652A>G (p.Ile218Val) n.364A>G | |
| 4 | g.4862883A>T | CA356138561 | MSX1 | c.652A>T (p.Ile218Leu) n.364A>T | |
| 4 | g.4862884T>A | CA356138562 | MSX1 | c.653T>A (p.Ile218Lys) n.365T>A | COSMIC |
| 4 | g.4862884T>C | CA356138563 | MSX1 | c.653T>C (p.Ile218Thr) n.365T>C | gnomAD v4 |
| 4 | g.4862884T>G | CA356138564 | MSX1 | c.653T>G (p.Ile218Arg) n.365T>G | |
| 4 | g.4862885A>C | CA438366180 | MSX1 | c.654A>C (p.Ile218=) n.366A>C | |
| 4 | g.4862885A>G | CA356138565 | MSX1 | c.654A>G (p.Ile218Met) n.366A>G | |
| 4 | g.4862885A>T | CA438366181 | MSX1 | c.654A>T (p.Ile218=) n.366A>T | |
| 4 | g.4862885_4862890delinsATGGTT | CA1435013691 | MSX1 | c.654_659delinsATGGTT (p.Ile218=) n.366_371delinsATGGTT | |
| 4 | g.4862886T>A | CA356138566 | MSX1 | c.655T>A (p.Trp219Arg) n.367T>A | |
| 4 | g.4862886T>C | CA356138567 | MSX1 | c.655T>C (p.Trp219Arg) n.367T>C | ClinVar dbSNP |
| 4 | g.4862886T>G | CA356138568 | MSX1 | c.655T>G (p.Trp219Gly) n.367T>G | gnomAD v4 |
| 4 | g.4862886T= | CA1435013692 | MSX1 | c.655T= (p.Trp219=) n.367T= | |
| 4 | g.4862886_4862890del | CA916082630 | MSX1 | c.655_659del (p.Trp219ProfsTer?) n.367_371del | ClinVar dbSNP |
| 4 | g.4862887G>A | CA356138571 | MSX1 | c.656G>A (p.Trp219Ter) n.368G>A | |
| 4 | g.4862887G>C | CA356138570 | MSX1 | c.656G>C (p.Trp219Ser) n.368G>C | |
| 4 | g.4862887G>T | CA356138569 | MSX1 | c.656G>T (p.Trp219Leu) n.368G>T | |
| 4 | g.4862888G>A | CA356138572 | MSX1 | c.657G>A (p.Trp219Ter) n.369G>A | |
| 4 | g.4862888G>C | CA356138573 | MSX1 | c.657G>C (p.Trp219Cys) n.369G>C | |
| 4 | g.4862888G>T | CA356138574 | MSX1 | c.657G>T (p.Trp219Cys) n.369G>T | |
| 4 | g.4862889T>A | CA356138575 | MSX1 | c.658T>A (p.Phe220Ile) n.370T>A | |
| 4 | g.4862889T>C | CA356138576 | MSX1 | c.658T>C (p.Phe220Leu) n.370T>C | |
| 4 | g.4862889T>G | CA356138577 | MSX1 | c.658T>G (p.Phe220Val) n.370T>G | |
| 4 | g.4862890T>A | CA356138578 | MSX1 | c.659T>A (p.Phe220Tyr) n.371T>A | |
| 4 | g.4862890T>C | CA356138579 | MSX1 | c.659T>C (p.Phe220Ser) n.371T>C | |
| 4 | g.4862890T>G | CA356138580 | MSX1 | c.659T>G (p.Phe220Cys) n.371T>G | |
| 4 | g.4862891C>A | CA356138581 | MSX1 | c.660C>A (p.Phe220Leu) n.372C>A | |
| 4 | g.4862891C>G | CA356138582 | MSX1 | c.660C>G (p.Phe220Leu) n.372C>G | |
| 4 | g.4862891C>T | CA438366182 | MSX1 | c.660C>T (p.Phe220=) n.372C>T | |
| 4 | g.4862892C>A | CA356138583 | MSX1 | c.661C>A (p.Gln221Lys) n.373C>A | |
| 4 | g.4862892C= | CA1435013693 | MSX1 | c.661C= (p.Gln221=) n.373C= | |
| 4 | g.4862892C>G | CA356138584 | MSX1 | c.661C>G (p.Gln221Glu) n.373C>G | |
| 4 | g.4862892C>T | CA356138585 | MSX1 | c.661C>T (p.Gln221Ter) n.373C>T | ClinVar dbSNP |
| 4 | g.4862893A>C | CA356138587 | MSX1 | c.662A>C (p.Gln221Pro) n.374A>C | |
| 4 | g.4862893A>G | CA356138588 | MSX1 | c.662A>G (p.Gln221Arg) n.374A>G | |
| 4 | g.4862893A>T | CA356138586 | MSX1 | c.662A>T (p.Gln221Leu) n.374A>T | |
| 4 | g.4862894G>A | CA438366183 | MSX1 | c.663G>A (p.Gln221=) n.375G>A | |
| 4 | g.4862894G>C | CA356138589 | MSX1 | c.663G>C (p.Gln221His) n.375G>C | |
| 4 | g.4862894G>T | CA356138590 | MSX1 | c.663G>T (p.Gln221His) n.375G>T | |
| 4 | g.4862895A>C | CA356138591 | MSX1 | c.664A>C (p.Asn222His) n.376A>C | |
| 4 | g.4862895A>G | CA356138592 | MSX1 | c.664A>G (p.Asn222Asp) n.376A>G | |
| 4 | g.4862895A>T | CA356138593 | MSX1 | c.664A>T (p.Asn222Tyr) n.376A>T | |
| 4 | g.4862896dup | CA2586973676 | MSX1 | c.665dup (p.Asn222LysfsTer?) n.377dup | |
| 4 | g.4862896A= | CA1435013694 | MSX1 | c.665A= (p.Asn222=) n.377A= | |
| 4 | g.4862896A>C | CA356138594 | MSX1 | c.665A>C (p.Asn222Thr) n.377A>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862896A>G | CA356138595 | MSX1 | c.665A>G (p.Asn222Ser) n.377A>G | |
| 4 | g.4862896A>T | CA356138596 | MSX1 | c.665A>T (p.Asn222Ile) n.377A>T | |
| 4 | g.4862897C>A | CA356138597 | MSX1 | c.666C>A (p.Asn222Lys) n.378C>A | |
| 4 | g.4862897C>G | CA356138598 | MSX1 | c.666C>G (p.Asn222Lys) n.378C>G | |
| 4 | g.4862897C>T | CA438366184 | MSX1 | c.666C>T (p.Asn222=) n.378C>T | |
| 4 | g.4862898C>A | CA356138599 | MSX1 | c.667C>A (p.Arg223Ser) n.379C>A | |
| 4 | g.4862898C>G | CA356138600 | MSX1 | c.667C>G (p.Arg223Gly) n.379C>G | |
| 4 | g.4862898C>T | CA356138601 | MSX1 | c.667C>T (p.Arg223Cys) n.379C>T | |
| 4 | g.4862899G>A | CA356138604 | MSX1 | c.668G>A (p.Arg223His) n.380G>A | |
| 4 | g.4862899G>C | CA356138602 | MSX1 | c.668G>C (p.Arg223Pro) n.380G>C | |
| 4 | g.4862899G>T | CA356138603 | MSX1 | c.668G>T (p.Arg223Leu) n.380G>T | |
| 4 | g.4862900C>A | CA438366185 | MSX1 | c.669C>A (p.Arg223=) n.381C>A | |
| 4 | g.4862900C= | CA1435013695 | MSX1 | c.669C= (p.Arg223=) n.381C= | |
| 4 | g.4862900C>G | CA438366186 | MSX1 | c.669C>G (p.Arg223=) n.381C>G | |
| 4 | g.4862900C>T | CA438366187 | MSX1 | c.669C>T (p.Arg223=) n.381C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.4862901C>A | CA356138605 | MSX1 | c.670C>A (p.Arg224Ser) n.382C>A | |
| 4 | g.4862901C= | CA1435013696 | MSX1 | c.670C= (p.Arg224=) n.382C= | |
| 4 | g.4862901C>G | CA356138606 | MSX1 | c.670C>G (p.Arg224Gly) n.382C>G | |
| 4 | g.4862901C>T | CA356138607 | MSX1 | c.670C>T (p.Arg224Cys) n.382C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.4862902G>A | CA356138608 | MSX1 | c.671G>A (p.Arg224His) n.383G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862902G>C | CA356138609 | MSX1 | c.671G>C (p.Arg224Pro) n.383G>C | |
| 4 | g.4862902G>T | CA356138610 | MSX1 | c.671G>T (p.Arg224Leu) n.383G>T | |
| 4 | g.4862903C>A | CA438366190 | MSX1 | c.672C>A (p.Arg224=) n.384C>A | |
| 4 | g.4862903C= | CA1435013697 | MSX1 | c.672C= (p.Arg224=) n.384C= | |
| 4 | g.4862903C>G | CA438366188 | MSX1 | c.672C>G (p.Arg224=) n.384C>G | |
| 4 | g.4862903C>T | CA438366189 | MSX1 | c.672C>T (p.Arg224=) n.384C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.4862904G>A | CA356138611 | MSX1 | c.673G>A (p.Ala225Thr) n.385G>A | COSMIC |
| 4 | g.4862904G>C | CA2833094 | MSX1 | c.673G>C (p.Ala225Pro) n.385G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862904G= | CA1435013698 | MSX1 | c.673G= (p.Ala225=) n.385G= | |
| 4 | g.4862904G>T | CA356138612 | MSX1 | c.673G>T (p.Ala225Ser) n.385G>T | |
| 4 | g.4862905C>A | CA356138613 | MSX1 | c.674C>A (p.Ala225Asp) n.386C>A | |
| 4 | g.4862905C= | CA1435013699 | MSX1 | c.674C= (p.Ala225=) n.386C= | |
| 4 | g.4862905C>G | CA356138614 | MSX1 | c.674C>G (p.Ala225Gly) n.386C>G | |
| 4 | g.4862905C>T | CA2833095 | MSX1 | c.674C>T (p.Ala225Val) n.386C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.4862906C>A | CA438366191 | MSX1 | c.675C>A (p.Ala225=) n.387C>A | |
| 4 | g.4862906C>G | CA438366192 | MSX1 | c.675C>G (p.Ala225=) n.387C>G | |
| 4 | g.4862906C>T | CA438366193 | MSX1 | c.675C>T (p.Ala225=) n.387C>T | gnomAD v4 |
| 4 | g.4862906_4862907del | CA2760244049 | MSX1 | c.675_676del (p.Lys226GlyfsTer?) n.387_388del | |
| 4 | g.4862907A>C | CA356138615 | MSX1 | c.676A>C (p.Lys226Gln) n.388A>C | |
| 4 | g.4862907A>G | CA356138617 | MSX1 | c.676A>G (p.Lys226Glu) n.388A>G | |
| 4 | g.4862907A>T | CA356138616 | MSX1 | c.676A>T (p.Lys226Ter) n.388A>T | |
| 4 | g.4862908A>C | CA356138618 | MSX1 | c.677A>C (p.Lys226Thr) n.389A>C | |
| 4 | g.4862908A>G | CA356138620 | MSX1 | c.677A>G (p.Lys226Arg) n.389A>G | |
| 4 | g.4862908A>T | CA356138619 | MSX1 | c.677A>T (p.Lys226Met) n.389A>T | |
| 4 | g.4862909G>A | CA2833096 | MSX1 | c.678G>A (p.Lys226=) n.390G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.4862909G>C | CA356138622 | MSX1 | c.678G>C (p.Lys226Asn) n.390G>C | |
| 4 | g.4862909G= | CA1435013700 | MSX1 | c.678G= (p.Lys226=) n.390G= | |
| 4 | g.4862909G>T | CA356138623 | MSX1 | c.678G>T (p.Lys226Asn) n.390G>T | |
| 4 | g.4862910del | CA2669788568 | MSX1 | c.679del (p.Ala227GlnfsTer12) n.391del | gnomAD v4 |
| 4 | g.4862910G>A | CA356138624 | MSX1 | c.679G>A (p.Ala227Thr) n.391G>A | |
| 4 | g.4862910G>C | CA356138625 | MSX1 | c.679G>C (p.Ala227Pro) n.391G>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.4862910G= | CA1435013701 | MSX1 | c.679G= (p.Ala227=) n.391G= | |
| 4 | g.4862910G>T | CA356138626 | MSX1 | c.679G>T (p.Ala227Ser) n.391G>T | |
| 4 | g.4862911C>A | CA356138627 | MSX1 | c.680C>A (p.Ala227Glu) n.392C>A | |
| 4 | g.4862911C= | CA1435013702 | MSX1 | c.680C= (p.Ala227=) n.392C= | |
| 4 | g.4862911C>G | CA356138628 | MSX1 | c.680C>G (p.Ala227Gly) n.392C>G | |
| 4 | g.4862911C>T | CA356138629 | MSX1 | c.680C>T (p.Ala227Val) n.392C>T | dbSNP |
| 4 | g.4862911_4862913delinsCAA | CA1435013703 | MSX1 | c.680_682delinsCAA (p.Ala227=) n.392_394delinsCAA | |
| 4 | g.4862912A>C | CA438366194 | MSX1 | c.681A>C (p.Ala227=) n.393A>C | |
| 4 | g.4862912A>G | CA438366195 | MSX1 | c.681A>G (p.Ala227=) n.393A>G | gnomAD v4 |
| 4 | g.4862912A>T | CA438366196 | MSX1 | c.681A>T (p.Ala227=) n.393A>T | |
| 4 | g.4862914dup | CA2573137594 | MSX1 | c.683dup (p.Arg229GlufsTer?) n.395dup | ClinVar dbSNP |
| 4 | g.4862913_4862914del | CA916082631 | MSX1 | c.682_683del (p.Lys228GlufsTer?) n.394_395del | ClinVar dbSNP gnomAD v4 |
| 4 | g.4862913A>C | CA356138630 | MSX1 | c.682A>C (p.Lys228Gln) n.394A>C | |
| 4 | g.4862913A>G | CA356138631 | MSX1 | c.682A>G (p.Lys228Glu) n.394A>G | ClinVar |
| 4 | g.4862913A>T | CA356138632 | MSX1 | c.682A>T (p.Lys228Ter) n.394A>T | |
| 4 | g.4862914A>C | CA356138633 | MSX1 | c.683A>C (p.Lys228Thr) n.395A>C | |
| 4 | g.4862914A>G | CA356138635 | MSX1 | c.683A>G (p.Lys228Arg) n.395A>G | |
| 4 | g.4862914A>T | CA356138634 | MSX1 | c.683A>T (p.Lys228Met) n.395A>T | |
| 4 | g.4862915G>A | CA2833097 | MSX1 | c.684G>A (p.Lys228=) n.396G>A | dbSNP ExAC gnomAD v2 |
| 4 | g.4862915G>C | CA356138636 | MSX1 | c.684G>C (p.Lys228Asn) n.396G>C | |
| 4 | g.4862915G= | CA1435013704 | MSX1 | c.684G= (p.Lys228=) n.396G= | |
| 4 | g.4862915G>T | CA356138637 | MSX1 | c.684G>T (p.Lys228Asn) n.396G>T |