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 |
|---|---|---|---|---|---|
| 5 | g.174724875_174724914del | CA2676572746 | MSX2 | c.216_255del (p.Gly73LeufsTer11) | gnomAD v4 |
| 5 | g.174724907G>A | CA362229415 | MSX2 | c.248G>A (p.Gly83Glu) | |
| 5 | g.174724907G>C | CA362229416 | MSX2 | c.248G>C (p.Gly83Ala) | |
| 5 | g.174724907G>T | CA362229417 | MSX2 | c.248G>T (p.Gly83Val) | |
| 5 | g.174724908G>A | CA447978533 | MSX2 | c.249G>A (p.Gly83=) | |
| 5 | g.174724908G>C | CA447978535 | MSX2 | c.249G>C (p.Gly83=) | |
| 5 | g.174724908G>T | CA447978534 | MSX2 | c.249G>T (p.Gly83=) | gnomAD v4 |
| 5 | g.174724909C>A | CA362229418 | MSX2 | c.250C>A (p.His84Asn) | gnomAD v4 |
| 5 | g.174724909C>G | CA362229419 | MSX2 | c.250C>G (p.His84Asp) | |
| 5 | g.174724909C>T | CA362229420 | MSX2 | c.250C>T (p.His84Tyr) | |
| 5 | g.174724910A>C | CA362229421 | MSX2 | c.251A>C (p.His84Pro) | |
| 5 | g.174724910A>G | CA362229422 | MSX2 | c.251A>G (p.His84Arg) | |
| 5 | g.174724910A>T | CA362229423 | MSX2 | c.251A>T (p.His84Leu) | |
| 5 | g.174724911C>A | CA362229424 | MSX2 | c.252C>A (p.His84Gln) | |
| 5 | g.174724911C= | CA1602346232 | MSX2 | c.252C= (p.His84=) | |
| 5 | g.174724911C>G | CA362229425 | MSX2 | c.252C>G (p.His84Gln) | |
| 5 | g.174724911C>T | CA3565114 | MSX2 | c.252C>T (p.His84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724912G>A | CA362229426 | MSX2 | c.253G>A (p.Gly85Ser) | gnomAD v4 |
| 5 | g.174724912G>C | CA362229427 | MSX2 | c.253G>C (p.Gly85Arg) | |
| 5 | g.174724912G>T | CA362229428 | MSX2 | c.253G>T (p.Gly85Cys) | |
| 5 | g.174724913del | CA2580074045 | MSX2 | c.254del (p.Gly85AlafsTer12) | ClinVar |
| 5 | g.174724913G>A | CA362229429 | MSX2 | c.254G>A (p.Gly85Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724913G>C | CA362229430 | MSX2 | c.254G>C (p.Gly85Ala) | |
| 5 | g.174724913G= | CA1602346238 | MSX2 | c.254G= (p.Gly85=) | |
| 5 | g.174724913G>T | CA362229431 | MSX2 | c.254G>T (p.Gly85Val) | |
| 5 | g.174724914C>A | CA447978542 | MSX2 | c.255C>A (p.Gly85=) | |
| 5 | g.174724914C= | CA1602346254 | MSX2 | c.255C= (p.Gly85=) | |
| 5 | g.174724914C>G | CA447978543 | MSX2 | c.255C>G (p.Gly85=) | |
| 5 | g.174724914C>T | CA3565115 | MSX2 | c.255C>T (p.Gly85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724915G>A | CA362229432 | MSX2 | c.256G>A (p.Ala86Thr) | |
| 5 | g.174724915G>C | CA362229433 | MSX2 | c.256G>C (p.Ala86Pro) | gnomAD v4 |
| 5 | g.174724915G= | CA1602346265 | MSX2 | c.256G= (p.Ala86=) | |
| 5 | g.174724915G>T | CA3565116 | MSX2 | c.256G>T (p.Ala86Ser) | dbSNP ExAC gnomAD v4 |
| 5 | g.174724916C>A | CA362229436 | MSX2 | c.257C>A (p.Ala86Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174724916C= | CA1602346273 | MSX2 | c.257C= (p.Ala86=) | |
| 5 | g.174724916C>G | CA362229437 | MSX2 | c.257C>G (p.Ala86Gly) | |
| 5 | g.174724916C>T | CA362229435 | MSX2 | c.257C>T (p.Ala86Val) | dbSNP gnomAD v4 |
| 5 | g.174724917T>A | CA447978544 | MSX2 | c.258T>A (p.Ala86=) | |
| 5 | g.174724917T>C | CA447978545 | MSX2 | c.258T>C (p.Ala86=) | |
| 5 | g.174724917T>G | CA447978546 | MSX2 | c.258T>G (p.Ala86=) | |
| 5 | g.174724918C>A | CA447978550 | MSX2 | c.259C>A (p.Arg87=) | gnomAD v4 |
| 5 | g.174724918C= | CA1602346281 | MSX2 | c.259C= (p.Arg87=) | |
| 5 | g.174724918C>G | CA362229438 | MSX2 | c.259C>G (p.Arg87Gly) | gnomAD v4 |
| 5 | g.174724918C>T | CA3565117 | MSX2 | c.259C>T (p.Arg87Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724919G>A | CA3565118 | MSX2 | c.260G>A (p.Arg87Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724919G>C | CA362229439 | MSX2 | c.260G>C (p.Arg87Pro) | |
| 5 | g.174724919G= | CA1602346286 | MSX2 | c.260G= (p.Arg87=) | |
| 5 | g.174724919G>T | CA362229440 | MSX2 | c.260G>T (p.Arg87Leu) | gnomAD v4 |
| 5 | g.174724920G>A | CA447978551 | MSX2 | c.261G>A (p.Arg87=) | |
| 5 | g.174724920G>C | CA447978552 | MSX2 | c.261G>C (p.Arg87=) | |
| 5 | g.174724920G>T | CA447978553 | MSX2 | c.261G>T (p.Arg87=) | gnomAD v4 |
| 5 | g.174724921G>A | CA362229443 | MSX2 | c.262G>A (p.Glu88Lys) | gnomAD v4 |
| 5 | g.174724921G>C | CA362229441 | MSX2 | c.262G>C (p.Glu88Gln) | |
| 5 | g.174724921G>T | CA362229442 | MSX2 | c.262G>T (p.Glu88Ter) | gnomAD v4 |
| 5 | g.174724922A>C | CA362229444 | MSX2 | c.263A>C (p.Glu88Ala) | |
| 5 | g.174724922A>G | CA362229445 | MSX2 | c.263A>G (p.Glu88Gly) | |
| 5 | g.174724922A>T | CA362229446 | MSX2 | c.263A>T (p.Glu88Val) | |
| 5 | g.174724923A>C | CA362229447 | MSX2 | c.264A>C (p.Glu88Asp) | |
| 5 | g.174724923A>G | CA447978557 | MSX2 | c.264A>G (p.Glu88=) | |
| 5 | g.174724923A>T | CA362229448 | MSX2 | c.264A>T (p.Glu88Asp) | |
| 5 | g.174724924G>A | CA362229449 | MSX2 | c.265G>A (p.Ala89Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724924G>C | CA362229451 | MSX2 | c.265G>C (p.Ala89Pro) | |
| 5 | g.174724924G= | CA1602346304 | MSX2 | c.265G= (p.Ala89=) | |
| 5 | g.174724924G>T | CA362229450 | MSX2 | c.265G>T (p.Ala89Ser) | gnomAD v4 |
| 5 | g.174724924_174724925delinsGC | CA1602346293 | MSX2 | c.265_266delinsGC (p.Ala89=) | |
| 5 | g.174724924_174724925delinsTA | CA127004 | MSX2 | c.265_266delinsTA (p.Ala89Ter) | ClinVar dbSNP |
| 5 | g.174724925C>A | CA362229452 | MSX2 | c.266C>A (p.Ala89Glu) | |
| 5 | g.174724925C= | CA1602346314 | MSX2 | c.266C= (p.Ala89=) | |
| 5 | g.174724925C>G | CA362229453 | MSX2 | c.266C>G (p.Ala89Gly) | |
| 5 | g.174724925C>T | CA362229454 | MSX2 | c.266C>T (p.Ala89Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724926G>A | CA447978558 | MSX2 | c.267G>A (p.Ala89=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724926G>C | CA447978560 | MSX2 | c.267G>C (p.Ala89=) | |
| 5 | g.174724926G= | CA1602346317 | MSX2 | c.267G= (p.Ala89=) | |
| 5 | g.174724926G>T | CA447978561 | MSX2 | c.267G>T (p.Ala89=) | gnomAD v4 |
| 5 | g.174724927C>A | CA362229455 | MSX2 | c.268C>A (p.His90Asn) | |
| 5 | g.174724927C>G | CA362229456 | MSX2 | c.268C>G (p.His90Asp) | |
| 5 | g.174724927C>T | CA362229457 | MSX2 | c.268C>T (p.His90Tyr) | |
| 5 | g.174724928A= | CA1602346329 | MSX2 | c.269A= (p.His90=) | |
| 5 | g.174724928A>C | CA362229458 | MSX2 | c.269A>C (p.His90Pro) | |
| 5 | g.174724928A>G | CA362229459 | MSX2 | c.269A>G (p.His90Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174724928A>T | CA362229460 | MSX2 | c.269A>T (p.His90Leu) | |
| 5 | g.174724929C>A | CA362229461 | MSX2 | c.270C>A (p.His90Gln) | gnomAD v4 |
| 5 | g.174724929C= | CA1602346333 | MSX2 | c.270C= (p.His90=) | |
| 5 | g.174724929C>G | CA3565119 | MSX2 | c.270C>G (p.His90Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724929C>T | CA447978562 | MSX2 | c.270C>T (p.His90=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724930A= | CA1602346340 | MSX2 | c.271A= (p.Ser91=) | |
| 5 | g.174724930A>C | CA362229462 | MSX2 | c.271A>C (p.Ser91Arg) | |
| 5 | g.174724930A>G | CA3565120 | MSX2 | c.271A>G (p.Ser91Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724930A>T | CA3565121 | MSX2 | c.271A>T (p.Ser91Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724931G>A | CA362229465 | MSX2 | c.272G>A (p.Ser91Asn) | COSMIC |
| 5 | g.174724931G>C | CA362229463 | MSX2 | c.272G>C (p.Ser91Thr) | |
| 5 | g.174724931G= | CA1602346353 | MSX2 | c.272G= (p.Ser91=) | |
| 5 | g.174724931G>T | CA362229464 | MSX2 | c.272G>T (p.Ser91Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174724932C>A | CA362229466 | MSX2 | c.273C>A (p.Ser91Arg) | |
| 5 | g.174724932C= | CA1602346359 | MSX2 | c.273C= (p.Ser91=) | |
| 5 | g.174724932C>G | CA362229467 | MSX2 | c.273C>G (p.Ser91Arg) | |
| 5 | g.174724932C>T | CA3565122 | MSX2 | c.273C>T (p.Ser91=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724933C>A | CA362229470 | MSX2 | c.274C>A (p.Pro92Thr) | dbSNP |
| 5 | g.174724933C= | CA1602346360 | MSX2 | c.274C= (p.Pro92=) | |
| 5 | g.174724933C>G | CA362229469 | MSX2 | c.274C>G (p.Pro92Ala) | gnomAD v4 |
| 5 | g.174724933C>T | CA362229468 | MSX2 | c.274C>T (p.Pro92Ser) | |
| 5 | g.174724934C>A | CA362229471 | MSX2 | c.275C>A (p.Pro92His) | |
| 5 | g.174724934C= | CA1602346363 | MSX2 | c.275C= (p.Pro92=) | |
| 5 | g.174724934C>G | CA362229472 | MSX2 | c.275C>G (p.Pro92Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724934C>T | CA362229473 | MSX2 | c.275C>T (p.Pro92Leu) | |
| 5 | g.174724935C>A | CA447978567 | MSX2 | c.276C>A (p.Pro92=) | COSMIC |
| 5 | g.174724935C= | CA1602346382 | MSX2 | c.276C= (p.Pro92=) | |
| 5 | g.174724935C>G | CA447978569 | MSX2 | c.276C>G (p.Pro92=) | dbSNP gnomAD v4 |
| 5 | g.174724935C>T | CA447978568 | MSX2 | c.276C>T (p.Pro92=) | |
| 5 | g.174724936G>A | CA362229474 | MSX2 | c.277G>A (p.Gly93Arg) | gnomAD v4 |
| 5 | g.174724936G>C | CA362229475 | MSX2 | c.277G>C (p.Gly93Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724936G= | CA1602346388 | MSX2 | c.277G= (p.Gly93=) | |
| 5 | g.174724936G>T | CA362229476 | MSX2 | c.277G>T (p.Gly93Trp) | gnomAD v4 |
| 5 | g.174724937G>A | CA362229477 | MSX2 | c.278G>A (p.Gly93Glu) | dbSNP gnomAD v4 |
| 5 | g.174724937G>C | CA362229479 | MSX2 | c.278G>C (p.Gly93Ala) | gnomAD v4 |
| 5 | g.174724937G= | CA1602346399 | MSX2 | c.278G= (p.Gly93=) | |
| 5 | g.174724937G>T | CA362229478 | MSX2 | c.278G>T (p.Gly93Val) | |
| 5 | g.174724938G>A | CA447978570 | MSX2 | c.279G>A (p.Gly93=) | gnomAD v4 |
| 5 | g.174724938G>C | CA447978571 | MSX2 | c.279G>C (p.Gly93=) | |
| 5 | g.174724938G>T | CA447978572 | MSX2 | c.279G>T (p.Gly93=) | |
| 5 | g.174724939C>A | CA362229480 | MSX2 | c.280C>A (p.Pro94Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174724939C= | CA1602346408 | MSX2 | c.280C= (p.Pro94=) | |
| 5 | g.174724939C>G | CA362229481 | MSX2 | c.280C>G (p.Pro94Ala) | |
| 5 | g.174724939C>T | CA3565123 | MSX2 | c.280C>T (p.Pro94Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724940C>A | CA362229482 | MSX2 | c.281C>A (p.Pro94Gln) | gnomAD v4 |
| 5 | g.174724940C>G | CA362229483 | MSX2 | c.281C>G (p.Pro94Arg) | gnomAD v4 |
| 5 | g.174724940C>T | CA362229484 | MSX2 | c.281C>T (p.Pro94Leu) | |
| 5 | g.174724941G>A | CA447978576 | MSX2 | c.282G>A (p.Pro94=) | dbSNP gnomAD v2 |
| 5 | g.174724941G>C | CA447978577 | MSX2 | c.282G>C (p.Pro94=) | |
| 5 | g.174724941G= | CA1602346428 | MSX2 | c.282G= (p.Pro94=) | |
| 5 | g.174724941G>T | CA447978578 | MSX2 | c.282G>T (p.Pro94=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724942C>A | CA362229485 | MSX2 | c.283C>A (p.Leu95Met) | gnomAD v4 |
| 5 | g.174724942C= | CA1602346433 | MSX2 | c.283C= (p.Leu95=) | |
| 5 | g.174724942C>G | CA362229486 | MSX2 | c.283C>G (p.Leu95Val) | dbSNP |
| 5 | g.174724942C>T | CA447978579 | MSX2 | c.283C>T (p.Leu95=) | dbSNP gnomAD v4 |
| 5 | g.174724943T>A | CA362229487 | MSX2 | c.284T>A (p.Leu95Gln) | |
| 5 | g.174724943T>C | CA362229488 | MSX2 | c.284T>C (p.Leu95Pro) | |
| 5 | g.174724943T>G | CA362229489 | MSX2 | c.284T>G (p.Leu95Arg) | dbSNP gnomAD v4 |
| 5 | g.174724943T= | CA1602346438 | MSX2 | c.284T= (p.Leu95=) | |
| 5 | g.174724944G>A | CA447978580 | MSX2 | c.285G>A (p.Leu95=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724944G>C | CA447978581 | MSX2 | c.285G>C (p.Leu95=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174724944G= | CA1602346439 | MSX2 | c.285G= (p.Leu95=) | |
| 5 | g.174724944G>T | CA447978583 | MSX2 | c.285G>T (p.Leu95=) | gnomAD v4 |
| 5 | g.174724945G>A | CA362229491 | MSX2 | c.286G>A (p.Val96Met) | |
| 5 | g.174724945G>C | CA362229490 | MSX2 | c.286G>C (p.Val96Leu) | |
| 5 | g.174724945G= | CA1602346444 | MSX2 | c.286G= (p.Val96=) | |
| 5 | g.174724945G>T | CA3565124 | MSX2 | c.286G>T (p.Val96Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724946T>A | CA362229492 | MSX2 | c.287T>A (p.Val96Glu) | |
| 5 | g.174724946T>C | CA362229494 | MSX2 | c.287T>C (p.Val96Ala) | |
| 5 | g.174724946T>G | CA362229493 | MSX2 | c.287T>G (p.Val96Gly) | |
| 5 | g.174724947G>A | CA447978585 | MSX2 | c.288G>A (p.Val96=) | |
| 5 | g.174724947G>C | CA447978586 | MSX2 | c.288G>C (p.Val96=) | |
| 5 | g.174724947G>T | CA447978587 | MSX2 | c.288G>T (p.Val96=) | gnomAD v4 |
| 5 | g.174724948A= | CA1602346452 | MSX2 | c.289A= (p.Lys97=) | |
| 5 | g.174724948A>C | CA362229495 | MSX2 | c.289A>C (p.Lys97Gln) | |
| 5 | g.174724948A>G | CA132700924 | MSX2 | c.289A>G (p.Lys97Glu) | dbSNP gnomAD v4 |
| 5 | g.174724948A>T | CA362229496 | MSX2 | c.289A>T (p.Lys97Ter) | |
| 5 | g.174724949A>C | CA362229497 | MSX2 | c.290A>C (p.Lys97Thr) | |
| 5 | g.174724949A>G | CA362229498 | MSX2 | c.290A>G (p.Lys97Arg) | |
| 5 | g.174724949A>T | CA362229499 | MSX2 | c.290A>T (p.Lys97Met) | |
| 5 | g.174724950G>A | CA447978589 | MSX2 | c.291G>A (p.Lys97=) | dbSNP gnomAD v2 |
| 5 | g.174724950G>C | CA362229500 | MSX2 | c.291G>C (p.Lys97Asn) | |
| 5 | g.174724950G= | CA1602346459 | MSX2 | c.291G= (p.Lys97=) | |
| 5 | g.174724950G>T | CA362229501 | MSX2 | c.291G>T (p.Lys97Asn) | gnomAD v4 |
| 5 | g.174724951C>A | CA362229502 | MSX2 | c.292C>A (p.Pro98Thr) | gnomAD v4 |
| 5 | g.174724951C>G | CA362229503 | MSX2 | c.292C>G (p.Pro98Ala) | |
| 5 | g.174724951C>T | CA362229504 | MSX2 | c.292C>T (p.Pro98Ser) | gnomAD v4 |
| 5 | g.174724952C>A | CA362229506 | MSX2 | c.293C>A (p.Pro98His) | dbSNP gnomAD v4 |
| 5 | g.174724952C= | CA1602346465 | MSX2 | c.293C= (p.Pro98=) | |
| 5 | g.174724952C>G | CA362229505 | MSX2 | c.293C>G (p.Pro98Arg) | |
| 5 | g.174724952C>T | CA3565125 | MSX2 | c.293C>T (p.Pro98Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724953C>A | CA447978592 | MSX2 | c.294C>A (p.Pro98=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.174724953C= | CA1602346475 | MSX2 | c.294C= (p.Pro98=) | |
| 5 | g.174724953C>G | CA3565127 | MSX2 | c.294C>G (p.Pro98=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724953C>T | CA3565126 | MSX2 | c.294C>T (p.Pro98=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724953_174724954del | CA2695205770 | MSX2 | c.294_295del (p.Phe99ArgfsTer?) c.294_295del (p.Phe99ArgfsTer29) | |
| 5 | g.174724954T>A | CA362229507 | MSX2 | c.295T>A (p.Phe99Ile) | |
| 5 | g.174724954T>C | CA362229508 | MSX2 | c.295T>C (p.Phe99Leu) | |
| 5 | g.174724954T>G | CA362229509 | MSX2 | c.295T>G (p.Phe99Val) | |
| 5 | g.174724955T>A | CA362229510 | MSX2 | c.296T>A (p.Phe99Tyr) | |
| 5 | g.174724955T>C | CA362229511 | MSX2 | c.296T>C (p.Phe99Ser) | |
| 5 | g.174724955T>G | CA362229512 | MSX2 | c.296T>G (p.Phe99Cys) | |
| 5 | g.174724956C>A | CA362229513 | MSX2 | c.297C>A (p.Phe99Leu) | gnomAD v4 |
| 5 | g.174724956C>G | CA362229514 | MSX2 | c.297C>G (p.Phe99Leu) | gnomAD v4 |
| 5 | g.174724956C>T | CA447978595 | MSX2 | c.297C>T (p.Phe99=) | gnomAD v4 |
| 5 | g.174724957G>A | CA362229515 | MSX2 | c.298G>A (p.Glu100Lys) | dbSNP gnomAD v2 |
| 5 | g.174724957G>C | CA362229516 | MSX2 | c.298G>C (p.Glu100Gln) | |
| 5 | g.174724957G= | CA1602346483 | MSX2 | c.298G= (p.Glu100=) | |
| 5 | g.174724957G>T | CA362229517 | MSX2 | c.298G>T (p.Glu100Ter) | gnomAD v4 |
| 5 | g.174724958A= | CA1602346491 | MSX2 | c.299A= (p.Glu100=) | |
| 5 | g.174724958A>C | CA3565128 | MSX2 | c.299A>C (p.Glu100Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724958A>G | CA362229519 | MSX2 | c.299A>G (p.Glu100Gly) | |
| 5 | g.174724958A>T | CA362229518 | MSX2 | c.299A>T (p.Glu100Val) | |
| 5 | g.174724959G>A | CA447978597 | MSX2 | c.300G>A (p.Glu100=) | COSMIC |
| 5 | g.174724959G>C | CA362229521 | MSX2 | c.300G>C (p.Glu100Asp) | |
| 5 | g.174724959G= | CA1602346496 | MSX2 | c.300G= (p.Glu100=) | |
| 5 | g.174724959G>T | CA362229520 | MSX2 | c.300G>T (p.Glu100Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724960A= | CA1602346499 | MSX2 | c.301A= (p.Thr101=) | |
| 5 | g.174724960A>C | CA362229522 | MSX2 | c.301A>C (p.Thr101Pro) | |
| 5 | g.174724960A>G | CA3565129 | MSX2 | c.301A>G (p.Thr101Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724960A>T | CA362229523 | MSX2 | c.301A>T (p.Thr101Ser) | |
| 5 | g.174724961C>A | CA362229524 | MSX2 | c.302C>A (p.Thr101Asn) | |
| 5 | g.174724961C>G | CA362229525 | MSX2 | c.302C>G (p.Thr101Ser) | |
| 5 | g.174724961C>T | CA362229526 | MSX2 | c.302C>T (p.Thr101Ile) | |
| 5 | g.174724962C>A | CA447978599 | MSX2 | c.303C>A (p.Thr101=) | gnomAD v4 |
| 5 | g.174724962C= | CA1602346506 | MSX2 | c.303C= (p.Thr101=) | |
| 5 | g.174724962C>G | CA447978600 | MSX2 | c.303C>G (p.Thr101=) | |
| 5 | g.174724962C>T | CA447978601 | MSX2 | c.303C>T (p.Thr101=) | dbSNP gnomAD v4 |
| 5 | g.174724963G>A | CA3565130 | MSX2 | c.304G>A (p.Ala102Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724963G>C | CA362229527 | MSX2 | c.304G>C (p.Ala102Pro) | ClinVar gnomAD v4 |
| 5 | g.174724963G= | CA1602346515 | MSX2 | c.304G= (p.Ala102=) | |
| 5 | g.174724963G>T | CA362229528 | MSX2 | c.304G>T (p.Ala102Ser) | gnomAD v4 |
| 5 | g.174724964C>A | CA362229529 | MSX2 | c.305C>A (p.Ala102Asp) | |
| 5 | g.174724964C>G | CA362229530 | MSX2 | c.305C>G (p.Ala102Gly) | |
| 5 | g.174724964C>T | CA362229531 | MSX2 | c.305C>T (p.Ala102Val) | |
| 5 | g.174724965C>A | CA447978605 | MSX2 | c.306C>A (p.Ala102=) | |
| 5 | g.174724965C= | CA1602346522 | MSX2 | c.306C= (p.Ala102=) | |
| 5 | g.174724965C>G | CA447978606 | MSX2 | c.306C>G (p.Ala102=) | |
| 5 | g.174724965C>T | CA447978607 | MSX2 | c.306C>T (p.Ala102=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724966T>A | CA362229532 | MSX2 | c.307T>A (p.Ser103Thr) | |
| 5 | g.174724966T>C | CA362229533 | MSX2 | c.307T>C (p.Ser103Pro) | |
| 5 | g.174724966T>G | CA362229534 | MSX2 | c.307T>G (p.Ser103Ala) | |
| 5 | g.174724967C>A | CA362229535 | MSX2 | c.308C>A (p.Ser103Ter) | gnomAD v4 |
| 5 | g.174724967C= | CA1602346535 | MSX2 | c.308C= (p.Ser103=) | |
| 5 | g.174724967C>G | CA362229537 | MSX2 | c.308C>G (p.Ser103Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724967C>T | CA362229536 | MSX2 | c.308C>T (p.Ser103Leu) | gnomAD v4 |
| 5 | g.174724968G>A | CA3565131 | MSX2 | c.309G>A (p.Ser103=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724968G>C | CA447978611 | MSX2 | c.309G>C (p.Ser103=) | |
| 5 | g.174724968G= | CA1602346537 | MSX2 | c.309G= (p.Ser103=) | |
| 5 | g.174724968G>T | CA447978612 | MSX2 | c.309G>T (p.Ser103=) | dbSNP gnomAD v4 |
| 5 | g.174724969G>A | CA362229538 | MSX2 | c.310G>A (p.Val104Ile) | gnomAD v4 |
| 5 | g.174724969G>C | CA362229539 | MSX2 | c.310G>C (p.Val104Leu) | |
| 5 | g.174724969G>T | CA362229540 | MSX2 | c.310G>T (p.Val104Phe) | |
| 5 | g.174724970T>A | CA362229541 | MSX2 | c.311T>A (p.Val104Asp) | COSMIC |
| 5 | g.174724970T>C | CA362229542 | MSX2 | c.311T>C (p.Val104Ala) | gnomAD v4 |
| 5 | g.174724970T>G | CA362229543 | MSX2 | c.311T>G (p.Val104Gly) | |
| 5 | g.174724971C>A | CA447978614 | MSX2 | c.312C>A (p.Val104=) | gnomAD v4 |
| 5 | g.174724971C= | CA1602346541 | MSX2 | c.312C= (p.Val104=) | |
| 5 | g.174724971C>G | CA447978615 | MSX2 | c.312C>G (p.Val104=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724971C>T | CA447978613 | MSX2 | c.312C>T (p.Val104=) | |
| 5 | g.174724972A= | CA1602346546 | MSX2 | c.313A= (p.Lys105=) | |
| 5 | g.174724972A>C | CA362229544 | MSX2 | c.313A>C (p.Lys105Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174724972A>G | CA362229545 | MSX2 | c.313A>G (p.Lys105Glu) | dbSNP |
| 5 | g.174724972A>T | CA362229546 | MSX2 | c.313A>T (p.Lys105Ter) | |
| 5 | g.174724973A>C | CA362229548 | MSX2 | c.314A>C (p.Lys105Thr) | |
| 5 | g.174724973A>G | CA362229549 | MSX2 | c.314A>G (p.Lys105Arg) | |
| 5 | g.174724973A>T | CA362229547 | MSX2 | c.314A>T (p.Lys105Met) | |
| 5 | g.174724974G>A | CA447978617 | MSX2 | c.315G>A (p.Lys105=) | gnomAD v4 |
| 5 | g.174724974G>C | CA3565132 | MSX2 | c.315G>C (p.Lys105Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724974G= | CA1602346555 | MSX2 | c.315G= (p.Lys105=) | |
| 5 | g.174724974G>T | CA362229550 | MSX2 | c.315G>T (p.Lys105Asn) | |
| 5 | g.174724975T>A | CA362229551 | MSX2 | c.316T>A (p.Ser106Thr) | |
| 5 | g.174724975T>C | CA362229552 | MSX2 | c.316T>C (p.Ser106Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724975T>G | CA362229553 | MSX2 | c.316T>G (p.Ser106Ala) | |
| 5 | g.174724975T= | CA1602346560 | MSX2 | c.316T= (p.Ser106=) | |
| 5 | g.174724976C>A | CA362229554 | MSX2 | c.317C>A (p.Ser106Ter) | gnomAD v4 |
| 5 | g.174724976C= | CA1602346565 | MSX2 | c.317C= (p.Ser106=) | |
| 5 | g.174724976C>G | CA362229555 | MSX2 | c.317C>G (p.Ser106Trp) | |
| 5 | g.174724976C>T | CA3565133 | MSX2 | c.317C>T (p.Ser106Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724977G>A | CA3565134 | MSX2 | c.318G>A (p.Ser106=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724977G>C | CA447978622 | MSX2 | c.318G>C (p.Ser106=) | |
| 5 | g.174724977G= | CA1602346576 | MSX2 | c.318G= (p.Ser106=) | |
| 5 | g.174724977G>T | CA447978621 | MSX2 | c.318G>T (p.Ser106=) | gnomAD v4 |
| 5 | g.174724978G>A | CA362229556 | MSX2 | c.319G>A (p.Glu107Lys) | gnomAD v4 |
| 5 | g.174724978G>C | CA362229557 | MSX2 | c.319G>C (p.Glu107Gln) | |
| 5 | g.174724978G>T | CA362229558 | MSX2 | c.319G>T (p.Glu107Ter) | |
| 5 | g.174724979A>C | CA362229561 | MSX2 | c.320A>C (p.Glu107Ala) | |
| 5 | g.174724979A>G | CA362229559 | MSX2 | c.320A>G (p.Glu107Gly) | |
| 5 | g.174724979A>T | CA362229560 | MSX2 | c.320A>T (p.Glu107Val) | |
| 5 | g.174724980A>C | CA362229562 | MSX2 | c.321A>C (p.Glu107Asp) | gnomAD v4 |
| 5 | g.174724980A>G | CA447978623 | MSX2 | c.321A>G (p.Glu107=) | |
| 5 | g.174724980A>T | CA362229563 | MSX2 | c.321A>T (p.Glu107Asp) | |
| 5 | g.174724981A>C | CA362229564 | MSX2 | c.322A>C (p.Asn108His) | |
| 5 | g.174724981A>G | CA362229565 | MSX2 | c.322A>G (p.Asn108Asp) | |
| 5 | g.174724981A>T | CA362229566 | MSX2 | c.322A>T (p.Asn108Tyr) | |
| 5 | g.174724982A>C | CA362229567 | MSX2 | c.323A>C (p.Asn108Thr) | |
| 5 | g.174724982A>G | CA362229568 | MSX2 | c.323A>G (p.Asn108Ser) | |
| 5 | g.174724982A>T | CA362229569 | MSX2 | c.323A>T (p.Asn108Ile) | |
| 5 | g.174724983T>A | CA362229570 | MSX2 | c.324T>A (p.Asn108Lys) | |
| 5 | g.174724983T>C | CA447978627 | MSX2 | c.324T>C (p.Asn108=) | dbSNP |
| 5 | g.174724983T>G | CA362229571 | MSX2 | c.324T>G (p.Asn108Lys) | |
| 5 | g.174724984T>A | CA362229572 | MSX2 | c.325T>A (p.Ser109Thr) | |
| 5 | g.174724984T>C | CA362229573 | MSX2 | c.325T>C (p.Ser109Pro) | |
| 5 | g.174724984T>G | CA362229574 | MSX2 | c.325T>G (p.Ser109Ala) | |
| 5 | g.174724985C>A | CA362229576 | MSX2 | c.326C>A (p.Ser109Ter) | gnomAD v4 |
| 5 | g.174724985C= | CA1602346583 | MSX2 | c.326C= (p.Ser109=) | |
| 5 | g.174724985C>G | CA362229577 | MSX2 | c.326C>G (p.Ser109Ter) | |
| 5 | g.174724985C>T | CA362229575 | MSX2 | c.326C>T (p.Ser109Leu) | dbSNP gnomAD v4 |
| 5 | g.174724986A= | CA1602346586 | MSX2 | c.327A= (p.Ser109=) | |
| 5 | g.174724986A>C | CA447978631 | MSX2 | c.327A>C (p.Ser109=) | |
| 5 | g.174724986A>G | CA3565135 | MSX2 | c.327A>G (p.Ser109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.174724986A>T | CA447978632 | MSX2 | c.327A>T (p.Ser109=) | |
| 5 | g.174724987G>A | CA362229578 | MSX2 | c.328G>A (p.Glu110Lys) | |
| 5 | g.174724987G>C | CA362229579 | MSX2 | c.328G>C (p.Glu110Gln) | |
| 5 | g.174724987G>T | CA362229580 | MSX2 | c.328G>T (p.Glu110Ter) | |
| 5 | g.174724988A= | CA1602346591 | MSX2 | c.329A= (p.Glu110=) | |
| 5 | g.174724988A>C | CA362229581 | MSX2 | c.329A>C (p.Glu110Ala) | dbSNP |
| 5 | g.174724988A>G | CA362229582 | MSX2 | c.329A>G (p.Glu110Gly) | |
| 5 | g.174724988A>T | CA362229583 | MSX2 | c.329A>T (p.Glu110Val) | |
| 5 | g.174724989A= | CA1602346595 | MSX2 | c.330A= (p.Glu110=) | |
| 5 | g.174724989A>C | CA362229584 | MSX2 | c.330A>C (p.Glu110Asp) | gnomAD v4 |
| 5 | g.174724989A>G | CA447978634 | MSX2 | c.330A>G (p.Glu110=) | dbSNP gnomAD v4 |
| 5 | g.174724989A>T | CA362229585 | MSX2 | c.330A>T (p.Glu110Asp) | |
| 5 | g.174724990G>A | CA362229586 | MSX2 | c.331G>A (p.Asp111Asn) | |
| 5 | g.174724990G>C | CA362229587 | MSX2 | c.331G>C (p.Asp111His) | |
| 5 | g.174724990G>T | CA362229588 | MSX2 | c.331G>T (p.Asp111Tyr) | |
| 5 | g.174724991A= | CA1602346599 | MSX2 | c.332A= (p.Asp111=) | |
| 5 | g.174724991A>C | CA362229589 | MSX2 | c.332A>C (p.Asp111Ala) | |
| 5 | g.174724991A>G | CA362229590 | MSX2 | c.332A>G (p.Asp111Gly) | |
| 5 | g.174724991A>T | CA3565136 | MSX2 | c.332A>T (p.Asp111Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724992T>A | CA362229591 | MSX2 | c.333T>A (p.Asp111Glu) | |
| 5 | g.174724992T>C | CA3565137 | MSX2 | c.333T>C (p.Asp111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.174724992T>G | CA362229592 | MSX2 | c.333T>G (p.Asp111Glu) | |
| 5 | g.174724992T= | CA1602346603 | MSX2 | c.333T= (p.Asp111=) | |
| 5 | g.174724993G>A | CA362229593 | MSX2 | c.334G>A (p.Gly112Arg) | |
| 5 | g.174724993G>C | CA362229594 | MSX2 | c.334G>C (p.Gly112Arg) | |
| 5 | g.174724993G>T | CA362229595 | MSX2 | c.334G>T (p.Gly112Ter) | |
| 5 | g.174724994G>A | CA362229596 | MSX2 | c.335G>A (p.Gly112Glu) | |
| 5 | g.174724994G>C | CA362229597 | MSX2 | c.335G>C (p.Gly112Ala) | |
| 5 | g.174724994G>T | CA362229598 | MSX2 | c.335G>T (p.Gly112Val) | |
| 5 | g.174724995A>C | CA447978639 | MSX2 | c.336A>C (p.Gly112=) | |
| 5 | g.174724995A>G | CA447978640 | MSX2 | c.336A>G (p.Gly112=) | |
| 5 | g.174724995A>T | CA447978641 | MSX2 | c.336A>T (p.Gly112=) | |
| 5 | g.174724996G>A | CA362229599 | MSX2 | c.337G>A (p.Ala113Thr) | |
| 5 | g.174724996G>C | CA362229600 | MSX2 | c.337G>C (p.Ala113Pro) | |
| 5 | g.174724996G>T | CA362229601 | MSX2 | c.337G>T (p.Ala113Ser) | |
| 5 | g.174724997C>A | CA362229602 | MSX2 | c.338C>A (p.Ala113Glu) | |
| 5 | g.174724997C= | CA1602346609 | MSX2 | c.338C= (p.Ala113=) | |
| 5 | g.174724997C>G | CA362229603 | MSX2 | c.338C>G (p.Ala113Gly) | gnomAD v4 |
| 5 | g.174724997C>T | CA3565138 | MSX2 | c.338C>T (p.Ala113Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.174724998G>A | CA447978643 | MSX2 | c.339G>A (p.Ala113=) | |
| 5 | g.174724998G>C | CA447978645 | MSX2 | c.339G>C (p.Ala113=) | |
| 5 | g.174724998G>T | CA447978646 | MSX2 | c.339G>T (p.Ala113=) | gnomAD v4 |
| 5 | g.174724999G>A | CA362229604 | MSX2 | c.340G>A (p.Ala114Thr) | gnomAD v4 |
| 5 | g.174724999G>C | CA362229606 | MSX2 | c.340G>C (p.Ala114Pro) | |
| 5 | g.174724999G>T | CA362229605 | MSX2 | c.340G>T (p.Ala114Ser) | |
| 5 | g.174725000C>A | CA362229607 | MSX2 | c.341C>A (p.Ala114Glu) | |
| 5 | g.174725000C>G | CA362229608 | MSX2 | c.341C>G (p.Ala114Gly) | |
| 5 | g.174725000C>T | CA362229609 | MSX2 | c.341C>T (p.Ala114Val) | |
| 5 | g.174725001G>A | CA447978647 | MSX2 | c.342G>A (p.Ala114=) | dbSNP gnomAD v4 |
| 5 | g.174725001G>C | CA447978648 | MSX2 | c.342G>C (p.Ala114=) | |
| 5 | g.174725001G>T | CA447978649 | MSX2 | c.342G>T (p.Ala114=) | |
| 5 | g.174725002T>A | CA362229610 | MSX2 | c.343T>A (p.Trp115Arg) | |
| 5 | g.174725002T>C | CA362229611 | MSX2 | c.343T>C (p.Trp115Arg) | gnomAD v4 |
| 5 | g.174725002T>G | CA362229612 | MSX2 | c.343T>G (p.Trp115Gly) | |
| 5 | g.174725002_174725003delinsTG | CA1602346612 | MSX2 | c.343_344delinsTG (p.Trp115=) | |
| 5 | g.174725003G>A | CA362229613 | MSX2 | c.344G>A (p.Trp115Ter) | |
| 5 | g.174725003G>C | CA362229614 | MSX2 | c.344G>C (p.Trp115Ser) | gnomAD v4 |
| 5 | g.174725003G>T | CA362229615 | MSX2 | c.344G>T (p.Trp115Leu) | |
| 5 | g.174725004del | CA127006 | MSX2 | c.345del (p.Trp115Ter) | ClinVar dbSNP |
| 5 | g.174725004G>A | CA362229616 | MSX2 | c.345G>A (p.Trp115Ter) | |
| 5 | g.174725004G>C | CA362229617 | MSX2 | c.345G>C (p.Trp115Cys) | |
| 5 | g.174725004G>T | CA362229618 | MSX2 | c.345G>T (p.Trp115Cys) | |
| 5 | g.174725005A>C | CA362229621 | MSX2 | c.346A>C (p.Met116Leu) | |
| 5 | g.174725005A>G | CA362229619 | MSX2 | c.346A>G (p.Met116Val) | gnomAD v4 |
| 5 | g.174725005A>T | CA362229620 | MSX2 | c.346A>T (p.Met116Leu) | |
| 5 | g.174725006T>A | CA362229622 | MSX2 | c.347T>A (p.Met116Lys) | |
| 5 | g.174725006T>C | CA362229623 | MSX2 | c.347T>C (p.Met116Thr) | |
| 5 | g.174725006T>G | CA362229624 | MSX2 | c.347T>G (p.Met116Arg) | |
| 5 | g.174725007G>A | CA362229625 | MSX2 | c.348G>A (p.Met116Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.174725007G>C | CA362229626 | MSX2 | c.348G>C (p.Met116Ile) | |
| 5 | g.174725007G= | CA1602346623 | MSX2 | c.348G= (p.Met116=) | |
| 5 | g.174725007G>T | CA3565139 | MSX2 | c.348G>T (p.Met116Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |