Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206767171_206767188delinsTCTGAGGAATGTAATTCC | CA1323320497 | FASTKD2 | c.478_495delinsTCTGAGGAATGTAATTCC (p.Ser160=) n.536_553delinsTCTGAGGAATGTAATTCC | |
2 | g.206767177_206767193del | CA1041644731 | FASTKD2 | c.484_500del (p.Glu162Ter) n.542_558del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767179A>C | CA350071304 | FASTKD2 | c.486A>C (p.Glu162Asp) n.544A>C | |
2 | g.206767179A>G | CA431115347 | FASTKD2 | c.486A>G (p.Glu162=) n.544A>G | gnomAD v4 |
2 | g.206767179A>T | CA350071308 | FASTKD2 | c.486A>T (p.Glu162Asp) n.544A>T | |
2 | g.206767180T>A | CA350071323 | FASTKD2 | c.487T>A (p.Cys163Ser) n.545T>A | |
2 | g.206767180T>C | CA350071321 | FASTKD2 | c.487T>C (p.Cys163Arg) n.545T>C | |
2 | g.206767180T>G | CA350071317 | FASTKD2 | c.487T>G (p.Cys163Gly) n.545T>G | |
2 | g.206767181G>A | CA350071326 | FASTKD2 | c.488G>A (p.Cys163Tyr) n.546G>A | |
2 | g.206767181G>C | CA350071330 | FASTKD2 | c.488G>C (p.Cys163Ser) n.546G>C | |
2 | g.206767181G>T | CA350071333 | FASTKD2 | c.488G>T (p.Cys163Phe) n.546G>T | |
2 | g.206767182T>A | CA350071334 | FASTKD2 | c.489T>A (p.Cys163Ter) n.547T>A | |
2 | g.206767182T>C | CA2074887 | FASTKD2 | c.489T>C (p.Cys163=) n.547T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767182T>G | CA350071337 | FASTKD2 | c.489T>G (p.Cys163Trp) n.547T>G | |
2 | g.206767182T= | CA1323320502 | FASTKD2 | c.489T= (p.Cys163=) n.547T= | |
2 | g.206767183A>C | CA350071340 | FASTKD2 | c.490A>C (p.Asn164His) n.548A>C | |
2 | g.206767183A>G | CA350071343 | FASTKD2 | c.490A>G (p.Asn164Asp) n.548A>G | |
2 | g.206767183A>T | CA350071346 | FASTKD2 | c.490A>T (p.Asn164Tyr) n.548A>T | |
2 | g.206767184A>C | CA350071348 | FASTKD2 | c.491A>C (p.Asn164Thr) n.549A>C | |
2 | g.206767184A>G | CA350071355 | FASTKD2 | c.491A>G (p.Asn164Ser) n.549A>G | |
2 | g.206767184A>T | CA350071358 | FASTKD2 | c.491A>T (p.Asn164Ile) n.549A>T | |
2 | g.206767185T>A | CA350071365 | FASTKD2 | c.492T>A (p.Asn164Lys) n.550T>A | |
2 | g.206767185T>C | CA431115361 | FASTKD2 | c.492T>C (p.Asn164=) n.550T>C | |
2 | g.206767185T>G | CA350071361 | FASTKD2 | c.492T>G (p.Asn164Lys) n.550T>G | |
2 | g.206767186T>A | CA350071368 | FASTKD2 | c.493T>A (p.Ser165Thr) n.551T>A | |
2 | g.206767186T>C | CA2074888 | FASTKD2 | c.493T>C (p.Ser165Pro) n.551T>C | dbSNP ExAC gnomAD v2 |
2 | g.206767186T>G | CA350071374 | FASTKD2 | c.493T>G (p.Ser165Ala) n.551T>G | |
2 | g.206767186T= | CA1323320503 | FASTKD2 | c.493T= (p.Ser165=) n.551T= | |
2 | g.206767187C>A | CA350071380 | FASTKD2 | c.494C>A (p.Ser165Tyr) n.552C>A | |
2 | g.206767187C>G | CA350071383 | FASTKD2 | c.494C>G (p.Ser165Cys) n.552C>G | |
2 | g.206767187C>T | CA350071386 | FASTKD2 | c.494C>T (p.Ser165Phe) n.552C>T | COSMIC |
2 | g.206767188C>A | CA431115368 | FASTKD2 | c.495C>A (p.Ser165=) n.553C>A | |
2 | g.206767188C>G | CA431115370 | FASTKD2 | c.495C>G (p.Ser165=) n.553C>G | gnomAD v4 |
2 | g.206767188C>T | CA431115371 | FASTKD2 | c.495C>T (p.Ser165=) n.553C>T | gnomAD v4 |
2 | g.206767188_206767190delinsCCT | CA1323320504 | FASTKD2 | c.495_497delinsCCT (p.Ser165=) n.553_555delinsCCT | |
2 | g.206767189C>A | CA350071394 | FASTKD2 | c.496C>A (p.Leu166Met) n.554C>A | |
2 | g.206767189C>G | CA350071390 | FASTKD2 | c.496C>G (p.Leu166Val) n.554C>G | |
2 | g.206767189C>T | CA431115374 | FASTKD2 | c.496C>T (p.Leu166=) n.554C>T | |
2 | g.206767189_206767190del | CA763820976 | FASTKD2 | c.496_497del (p.Leu166GlufsTer2) n.554_555del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767190T>A | CA350071414 | FASTKD2 | c.497T>A (p.Leu166Gln) n.555T>A | |
2 | g.206767190T>C | CA350071420 | FASTKD2 | c.497T>C (p.Leu166Pro) n.555T>C | gnomAD v4 |
2 | g.206767190T>G | CA350071424 | FASTKD2 | c.497T>G (p.Leu166Arg) n.555T>G | |
2 | g.206767191G>A | CA431115377 | FASTKD2 | c.498G>A (p.Leu166=) n.556G>A | |
2 | g.206767191G>C | CA431115379 | FASTKD2 | c.498G>C (p.Leu166=) n.556G>C | |
2 | g.206767191G>T | CA431115380 | FASTKD2 | c.498G>T (p.Leu166=) n.556G>T | |
2 | g.206767192A>C | CA350071428 | FASTKD2 | c.499A>C (p.Ser167Arg) n.557A>C | |
2 | g.206767192A>G | CA350071433 | FASTKD2 | c.499A>G (p.Ser167Gly) n.557A>G | |
2 | g.206767192A>T | CA350071443 | FASTKD2 | c.499A>T (p.Ser167Cys) n.557A>T | |
2 | g.206767193G>A | CA350071446 | FASTKD2 | c.500G>A (p.Ser167Asn) n.558G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767193G>C | CA350071452 | FASTKD2 | c.500G>C (p.Ser167Thr) n.558G>C | |
2 | g.206767193G= | CA1323320505 | FASTKD2 | c.500G= (p.Ser167=) n.558G= | |
2 | g.206767193G>T | CA350071450 | FASTKD2 | c.500G>T (p.Ser167Ile) n.558G>T | |
2 | g.206767194T>A | CA350071459 | FASTKD2 | c.501T>A (p.Ser167Arg) n.559T>A | |
2 | g.206767194T>C | CA431115386 | FASTKD2 | c.501T>C (p.Ser167=) n.559T>C | |
2 | g.206767194T>G | CA350071461 | FASTKD2 | c.501T>G (p.Ser167Arg) n.559T>G | |
2 | g.206767195G>A | CA2074889 | FASTKD2 | c.502G>A (p.Asp168Asn) n.560G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767195G>C | CA350071463 | FASTKD2 | c.502G>C (p.Asp168His) n.560G>C | |
2 | g.206767195G= | CA1323320506 | FASTKD2 | c.502G= (p.Asp168=) n.560G= | |
2 | g.206767195G>T | CA350071464 | FASTKD2 | c.502G>T (p.Asp168Tyr) n.560G>T | |
2 | g.206767195_206767196delinsGA | CA1323320507 | FASTKD2 | c.502_503delinsGA (p.Asp168=) n.560_561delinsGA | |
2 | g.206767196del | CA539388790 | FASTKD2 | c.503del (p.Asp168ValfsTer3) n.561del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767196A= | CA1323320508 | FASTKD2 | c.503A= (p.Asp168=) n.561A= | |
2 | g.206767196A>C | CA350071465 | FASTKD2 | c.503A>C (p.Asp168Ala) n.561A>C | |
2 | g.206767196A>G | CA2074890 | FASTKD2 | c.503A>G (p.Asp168Gly) n.561A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767196A>T | CA350071467 | FASTKD2 | c.503A>T (p.Asp168Val) n.561A>T | |
2 | g.206767197T>A | CA350071475 | FASTKD2 | c.504T>A (p.Asp168Glu) n.562T>A | gnomAD v4 |
2 | g.206767197T>C | CA2074891 | FASTKD2 | c.504T>C (p.Asp168=) n.562T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767197T>G | CA350071487 | FASTKD2 | c.504T>G (p.Asp168Glu) n.562T>G | |
2 | g.206767197T= | CA1323320509 | FASTKD2 | c.504T= (p.Asp168=) n.562T= | |
2 | g.206767198G>A | CA350071493 | FASTKD2 | c.505G>A (p.Val169Met) n.563G>A | gnomAD v4 |
2 | g.206767198G>C | CA350071495 | FASTKD2 | c.505G>C (p.Val169Leu) n.563G>C | |
2 | g.206767198G>T | CA350071490 | FASTKD2 | c.505G>T (p.Val169Leu) n.563G>T | |
2 | g.206767199T>A | CA350071504 | FASTKD2 | c.506T>A (p.Val169Glu) n.564T>A | |
2 | g.206767199T>C | CA350071498 | FASTKD2 | c.506T>C (p.Val169Ala) n.564T>C | |
2 | g.206767199T>G | CA63710008 | FASTKD2 | c.506T>G (p.Val169Gly) n.564T>G | dbSNP gnomAD v4 |
2 | g.206767199T= | CA1323320510 | FASTKD2 | c.506T= (p.Val169=) n.564T= | |
2 | g.206767200G>A | CA431115402 | FASTKD2 | c.507G>A (p.Val169=) n.565G>A | gnomAD v4 |
2 | g.206767200G>C | CA431115403 | FASTKD2 | c.507G>C (p.Val169=) n.565G>C | |
2 | g.206767200G>T | CA431115404 | FASTKD2 | c.507G>T (p.Val169=) n.565G>T | |
2 | g.206767201T>A | CA350071505 | FASTKD2 | c.508T>A (p.Leu170Ile) n.566T>A | |
2 | g.206767201T>C | CA431115405 | FASTKD2 | c.508T>C (p.Leu170=) n.566T>C | |
2 | g.206767201T>G | CA350071510 | FASTKD2 | c.508T>G (p.Leu170Val) n.566T>G | |
2 | g.206767202T>A | CA350071513 | FASTKD2 | c.509T>A (p.Leu170Ter) n.567T>A | |
2 | g.206767202T>C | CA350071514 | FASTKD2 | c.509T>C (p.Leu170Ser) n.567T>C | |
2 | g.206767202T>G | CA350071525 | FASTKD2 | c.509T>G (p.Leu170Ter) n.567T>G | |
2 | g.206767203A>C | CA350071528 | FASTKD2 | c.510A>C (p.Leu170Phe) n.568A>C | |
2 | g.206767203A>G | CA431115411 | FASTKD2 | c.510A>G (p.Leu170=) n.568A>G | |
2 | g.206767203A>T | CA350071531 | FASTKD2 | c.510A>T (p.Leu170Phe) n.568A>T | |
2 | g.206767204G>A | CA350071534 | FASTKD2 | c.511G>A (p.Asp171Asn) n.569G>A | |
2 | g.206767204G>C | CA350071541 | FASTKD2 | c.511G>C (p.Asp171His) n.569G>C | |
2 | g.206767204G>T | CA350071542 | FASTKD2 | c.511G>T (p.Asp171Tyr) n.569G>T | gnomAD v4 |
2 | g.206767205A>C | CA350071549 | FASTKD2 | c.512A>C (p.Asp171Ala) n.570A>C | |
2 | g.206767205A>G | CA350071545 | FASTKD2 | c.512A>G (p.Asp171Gly) n.570A>G | |
2 | g.206767205A>T | CA350071547 | FASTKD2 | c.512A>T (p.Asp171Val) n.570A>T | gnomAD v4 |
2 | g.206767206T>A | CA350071553 | FASTKD2 | c.513T>A (p.Asp171Glu) n.571T>A | |
2 | g.206767206T>C | CA431115417 | FASTKD2 | c.513T>C (p.Asp171=) n.571T>C | |
2 | g.206767206T>G | CA350071556 | FASTKD2 | c.513T>G (p.Asp171Glu) n.571T>G | |
2 | g.206767207G>A | CA350071558 | FASTKD2 | c.514G>A (p.Ala172Thr) n.572G>A | |
2 | g.206767207G>C | CA350071561 | FASTKD2 | c.514G>C (p.Ala172Pro) n.572G>C | |
2 | g.206767207G>T | CA350071564 | FASTKD2 | c.514G>T (p.Ala172Ser) n.572G>T | |
2 | g.206767208C>A | CA350071573 | FASTKD2 | c.515C>A (p.Ala172Glu) n.573C>A | |
2 | g.206767208C>G | CA350071574 | FASTKD2 | c.515C>G (p.Ala172Gly) n.573C>G | |
2 | g.206767208C>T | CA350071576 | FASTKD2 | c.515C>T (p.Ala172Val) n.573C>T | |
2 | g.206767209A= | CA1323320511 | FASTKD2 | c.516A= (p.Ala172=) n.574A= | |
2 | g.206767209A>C | CA431115427 | FASTKD2 | c.516A>C (p.Ala172=) n.574A>C | |
2 | g.206767209A>G | CA2074892 | FASTKD2 | c.516A>G (p.Ala172=) n.574A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767209A>T | CA431115426 | FASTKD2 | c.516A>T (p.Ala172=) n.574A>T | |
2 | g.206767210T>A | CA350071582 | FASTKD2 | c.517T>A (p.Phe173Ile) n.575T>A | |
2 | g.206767210T>C | CA350071592 | FASTKD2 | c.517T>C (p.Phe173Leu) n.575T>C | |
2 | g.206767210T>G | CA350071595 | FASTKD2 | c.517T>G (p.Phe173Val) n.575T>G | |
2 | g.206767211T>A | CA350071602 | FASTKD2 | c.518T>A (p.Phe173Tyr) n.576T>A | |
2 | g.206767211T>C | CA350071606 | FASTKD2 | c.518T>C (p.Phe173Ser) n.576T>C | |
2 | g.206767211T>G | CA350071599 | FASTKD2 | c.518T>G (p.Phe173Cys) n.576T>G | |
2 | g.206767212T>A | CA350071610 | FASTKD2 | c.519T>A (p.Phe173Leu) n.577T>A | |
2 | g.206767212T>C | CA431115437 | FASTKD2 | c.519T>C (p.Phe173=) n.577T>C | |
2 | g.206767212T>G | CA350071613 | FASTKD2 | c.519T>G (p.Phe173Leu) n.577T>G | |
2 | g.206767213T>A | CA350071621 | FASTKD2 | c.520T>A (p.Ser174Thr) n.578T>A | |
2 | g.206767213T>C | CA350071627 | FASTKD2 | c.520T>C (p.Ser174Pro) n.578T>C | |
2 | g.206767213T>G | CA350071630 | FASTKD2 | c.520T>G (p.Ser174Ala) n.578T>G | |
2 | g.206767214C>A | CA350071634 | FASTKD2 | c.521C>A (p.Ser174Ter) n.579C>A | |
2 | g.206767214C>G | CA350071636 | FASTKD2 | c.521C>G (p.Ser174Ter) n.579C>G | |
2 | g.206767214C>T | CA350071639 | FASTKD2 | c.521C>T (p.Ser174Leu) n.579C>T | |
2 | g.206767215A= | CA1323320512 | FASTKD2 | c.522A= (p.Ser174=) n.580A= | |
2 | g.206767215A>C | CA431115450 | FASTKD2 | c.522A>C (p.Ser174=) n.580A>C | |
2 | g.206767215A>G | CA431115448 | FASTKD2 | c.522A>G (p.Ser174=) n.580A>G | |
2 | g.206767215A>T | CA431115452 | FASTKD2 | c.522A>T (p.Ser174=) n.580A>T | |
2 | g.206767215_206767216insTTGGAGACTTCATGATT | CA1323320514 | FASTKD2 | c.522_523insTTGGAGACTTCATGATT (p.Lys175LeufsTer5) n.580_581insTTGGAGACTTCATGATT | dbSNP |
2 | g.206767216A= | CA1323320513 | FASTKD2 | c.523A= (p.Lys175=) n.581A= | |
2 | g.206767216A>C | CA350071642 | FASTKD2 | c.523A>C (p.Lys175Gln) n.581A>C | |
2 | g.206767216A>G | CA2074893 | FASTKD2 | c.523A>G (p.Lys175Glu) n.581A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767216A>T | CA350071650 | FASTKD2 | c.523A>T (p.Lys175Ter) n.581A>T | |
2 | g.206767217A>C | CA350071653 | FASTKD2 | c.524A>C (p.Lys175Thr) n.582A>C | |
2 | g.206767217A>G | CA350071655 | FASTKD2 | c.524A>G (p.Lys175Arg) n.582A>G | gnomAD v4 |
2 | g.206767217A>T | CA350071657 | FASTKD2 | c.524A>T (p.Lys175Ile) n.582A>T | |
2 | g.206767218A= | CA1323320515 | FASTKD2 | c.525A= (p.Lys175=) n.583A= | |
2 | g.206767218A>C | CA350071659 | FASTKD2 | c.525A>C (p.Lys175Asn) n.583A>C | |
2 | g.206767218A>G | CA431115455 | FASTKD2 | c.525A>G (p.Lys175=) n.583A>G | dbSNP |
2 | g.206767218A>T | CA350071663 | FASTKD2 | c.525A>T (p.Lys175Asn) n.583A>T | |
2 | g.206767219G>A | CA350071667 | FASTKD2 | c.526G>A (p.Ala176Thr) n.584G>A | |
2 | g.206767219G>C | CA350071676 | FASTKD2 | c.526G>C (p.Ala176Pro) n.584G>C | |
2 | g.206767219G>T | CA350071682 | FASTKD2 | c.526G>T (p.Ala176Ser) n.584G>T | ClinVar |
2 | g.206767220C>A | CA350071685 | FASTKD2 | c.527C>A (p.Ala176Glu) n.585C>A | |
2 | g.206767220C= | CA1323320516 | FASTKD2 | c.527C= (p.Ala176=) n.585C= | |
2 | g.206767220C>G | CA350071687 | FASTKD2 | c.527C>G (p.Ala176Gly) n.585C>G | dbSNP |
2 | g.206767220C>T | CA2074894 | FASTKD2 | c.527C>T (p.Ala176Val) n.585C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767221G>A | CA2074895 | FASTKD2 | c.528G>A (p.Ala176=) n.586G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.206767221G>C | CA431115465 | FASTKD2 | c.528G>C (p.Ala176=) n.586G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767221G= | CA1323320517 | FASTKD2 | c.528G= (p.Ala176=) n.586G= | |
2 | g.206767221G>T | CA2074896 | FASTKD2 | c.528G>T (p.Ala176=) n.586G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767222C>A | CA350071703 | FASTKD2 | c.529C>A (p.Pro177Thr) n.587C>A | |
2 | g.206767222C= | CA1323320518 | FASTKD2 | c.529C= (p.Pro177=) n.587C= | |
2 | g.206767222C>G | CA350071707 | FASTKD2 | c.529C>G (p.Pro177Ala) n.587C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767222C>T | CA350071708 | FASTKD2 | c.529C>T (p.Pro177Ser) n.587C>T | |
2 | g.206767223C>A | CA350071711 | FASTKD2 | c.530C>A (p.Pro177His) n.588C>A | |
2 | g.206767223C= | CA1323320519 | FASTKD2 | c.530C= (p.Pro177=) n.588C= | |
2 | g.206767223C>G | CA2074897 | FASTKD2 | c.530C>G (p.Pro177Arg) n.588C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767223C>T | CA350071713 | FASTKD2 | c.530C>T (p.Pro177Leu) n.588C>T | |
2 | g.206767224C>A | CA431115475 | FASTKD2 | c.531C>A (p.Pro177=) n.589C>A | dbSNP |
2 | g.206767224C= | CA1323320520 | FASTKD2 | c.531C= (p.Pro177=) n.589C= | |
2 | g.206767224C>G | CA431115476 | FASTKD2 | c.531C>G (p.Pro177=) n.589C>G | |
2 | g.206767224C>T | CA431115477 | FASTKD2 | c.531C>T (p.Pro177=) n.589C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767225A>C | CA350071718 | FASTKD2 | c.532A>C (p.Thr178Pro) n.590A>C | |
2 | g.206767225A>G | CA350071725 | FASTKD2 | c.532A>G (p.Thr178Ala) n.590A>G | |
2 | g.206767225A>T | CA350071716 | FASTKD2 | c.532A>T (p.Thr178Ser) n.590A>T | |
2 | g.206767226C>A | CA350071727 | FASTKD2 | c.533C>A (p.Thr178Lys) n.591C>A | |
2 | g.206767226C>G | CA350071733 | FASTKD2 | c.533C>G (p.Thr178Arg) n.591C>G | |
2 | g.206767226C>T | CA350071729 | FASTKD2 | c.533C>T (p.Thr178Ile) n.591C>T | |
2 | g.206767227A= | CA1323320522 | FASTKD2 | c.534A= (p.Thr178=) n.592A= | |
2 | g.206767227A>C | CA431115482 | FASTKD2 | c.534A>C (p.Thr178=) n.592A>C | |
2 | g.206767227A>G | CA2074898 | FASTKD2 | c.534A>G (p.Thr178=) n.592A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767227A>T | CA431115483 | FASTKD2 | c.534A>T (p.Thr178=) n.592A>T | |
2 | g.206767227_206767228delinsAT | CA1323320521 | FASTKD2 | c.534_535delinsAT (p.Thr178=) n.592_593delinsAT | |
2 | g.206767228T>A | CA350071748 | FASTKD2 | c.535T>A (p.Phe179Ile) n.593T>A | |
2 | g.206767228T>C | CA350071739 | FASTKD2 | c.535T>C (p.Phe179Leu) n.593T>C | |
2 | g.206767228T>G | CA350071752 | FASTKD2 | c.535T>G (p.Phe179Val) n.593T>G | |
2 | g.206767230del | CA539388791 | FASTKD2 | c.537del (p.Pro180LeufsTer27) n.595del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767229T>A | CA350071753 | FASTKD2 | c.536T>A (p.Phe179Tyr) n.594T>A | |
2 | g.206767229T>C | CA350071754 | FASTKD2 | c.536T>C (p.Phe179Ser) n.594T>C | |
2 | g.206767229T>G | CA350071755 | FASTKD2 | c.536T>G (p.Phe179Cys) n.594T>G | |
2 | g.206767230T>A | CA350071756 | FASTKD2 | c.537T>A (p.Phe179Leu) n.595T>A | |
2 | g.206767230T>C | CA431115488 | FASTKD2 | c.537T>C (p.Phe179=) n.595T>C | |
2 | g.206767230T>G | CA350071759 | FASTKD2 | c.537T>G (p.Phe179Leu) n.595T>G | |
2 | g.206767231C>A | CA350071764 | FASTKD2 | c.538C>A (p.Pro180Thr) n.596C>A | |
2 | g.206767231C>G | CA350071766 | FASTKD2 | c.538C>G (p.Pro180Ala) n.596C>G | |
2 | g.206767231C>T | CA350071768 | FASTKD2 | c.538C>T (p.Pro180Ser) n.596C>T | |
2 | g.206767232C>A | CA350071770 | FASTKD2 | c.539C>A (p.Pro180His) n.597C>A | |
2 | g.206767232C>G | CA350071771 | FASTKD2 | c.539C>G (p.Pro180Arg) n.597C>G | |
2 | g.206767232C>T | CA350071775 | FASTKD2 | c.539C>T (p.Pro180Leu) n.597C>T | COSMIC |
2 | g.206767233T>A | CA431115495 | FASTKD2 | c.540T>A (p.Pro180=) n.598T>A | |
2 | g.206767233T>C | CA2074899 | FASTKD2 | c.540T>C (p.Pro180=) n.598T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767233T>G | CA431115497 | FASTKD2 | c.540T>G (p.Pro180=) n.598T>G | |
2 | g.206767233T= | CA1323320523 | FASTKD2 | c.540T= (p.Pro180=) n.598T= | |
2 | g.206767234A= | CA1323320524 | FASTKD2 | c.541A= (p.Ser181=) n.599A= | |
2 | g.206767234A>C | CA350071781 | FASTKD2 | c.541A>C (p.Ser181Arg) n.599A>C | |
2 | g.206767234A>G | CA350071776 | FASTKD2 | c.541A>G (p.Ser181Gly) n.599A>G | dbSNP |
2 | g.206767234A>T | CA350071779 | FASTKD2 | c.541A>T (p.Ser181Cys) n.599A>T | |
2 | g.206767235G>A | CA2074900 | FASTKD2 | c.542G>A (p.Ser181Asn) n.600G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767235G>C | CA350071785 | FASTKD2 | c.542G>C (p.Ser181Thr) n.600G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767235G= | CA1323320525 | FASTKD2 | c.542G= (p.Ser181=) n.600G= | |
2 | g.206767235G>T | CA350071788 | FASTKD2 | c.542G>T (p.Ser181Ile) n.600G>T | |
2 | g.206767236T>A | CA350071791 | FASTKD2 | c.543T>A (p.Ser181Arg) n.601T>A | |
2 | g.206767236T>C | CA431114647 | FASTKD2 | c.543T>C (p.Ser181=) n.601T>C | dbSNP |
2 | g.206767236T>G | CA350071794 | FASTKD2 | c.543T>G (p.Ser181Arg) n.601T>G | |
2 | g.206767236T= | CA1323320526 | FASTKD2 | c.543T= (p.Ser181=) n.601T= | |
2 | g.206767236_206767237insC | CA1323320527 | FASTKD2 | c.543_544insC (p.Ser182GlnfsTer16) n.601_602insC | dbSNP |
2 | g.206767237A= | CA1323320528 | FASTKD2 | c.544A= (p.Ser182=) n.602A= | |
2 | g.206767237A>C | CA2074901 | FASTKD2 | c.544A>C (p.Ser182Arg) n.602A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767237A>G | CA350071797 | FASTKD2 | c.544A>G (p.Ser182Gly) n.602A>G | |
2 | g.206767237A>T | CA350071798 | FASTKD2 | c.544A>T (p.Ser182Cys) n.602A>T | |
2 | g.206767238G>A | CA350071802 | FASTKD2 | c.545G>A (p.Ser182Asn) n.603G>A | |
2 | g.206767238G>C | CA350071803 | FASTKD2 | c.545G>C (p.Ser182Thr) n.603G>C | |
2 | g.206767238G>T | CA350071804 | FASTKD2 | c.545G>T (p.Ser182Ile) n.603G>T | |
2 | g.206767239C>A | CA350071808 | FASTKD2 | c.546C>A (p.Ser182Arg) n.604C>A | |
2 | g.206767239C>G | CA350071806 | FASTKD2 | c.546C>G (p.Ser182Arg) n.604C>G | |
2 | g.206767239C>T | CA431114648 | FASTKD2 | c.546C>T (p.Ser182=) n.604C>T | gnomAD v4 |
2 | g.206767240A>C | CA350071811 | FASTKD2 | c.547A>C (p.Asn183His) n.605A>C | |
2 | g.206767240A>G | CA350071812 | FASTKD2 | c.547A>G (p.Asn183Asp) n.605A>G | COSMIC |
2 | g.206767240A>T | CA350071815 | FASTKD2 | c.547A>T (p.Asn183Tyr) n.605A>T | |
2 | g.206767241A= | CA1323320529 | FASTKD2 | c.548A= (p.Asn183=) n.606A= | |
2 | g.206767241A>C | CA350071816 | FASTKD2 | c.548A>C (p.Asn183Thr) n.606A>C | |
2 | g.206767241A>G | CA2074902 | FASTKD2 | c.548A>G (p.Asn183Ser) n.606A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767241A>T | CA350071819 | FASTKD2 | c.548A>T (p.Asn183Ile) n.606A>T | |
2 | g.206767242C>A | CA350071822 | FASTKD2 | c.549C>A (p.Asn183Lys) n.607C>A | dbSNP |
2 | g.206767242C= | CA1323320530 | FASTKD2 | c.549C= (p.Asn183=) n.607C= | |
2 | g.206767242C>G | CA350071825 | FASTKD2 | c.549C>G (p.Asn183Lys) n.607C>G | |
2 | g.206767242C>T | CA2074903 | FASTKD2 | c.549C>T (p.Asn183=) n.607C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767243T>A | CA350071830 | FASTKD2 | c.550T>A (p.Tyr184Asn) n.608T>A | dbSNP |
2 | g.206767243T>C | CA350071831 | FASTKD2 | c.550T>C (p.Tyr184His) n.608T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767243T>G | CA350071833 | FASTKD2 | c.550T>G (p.Tyr184Asp) n.608T>G | |
2 | g.206767243T= | CA1323320531 | FASTKD2 | c.550T= (p.Tyr184=) n.608T= | |
2 | g.206767244A>C | CA350071843 | FASTKD2 | c.551A>C (p.Tyr184Ser) n.609A>C | gnomAD v4 |
2 | g.206767244A>G | CA350071844 | FASTKD2 | c.551A>G (p.Tyr184Cys) n.609A>G | gnomAD v4 |
2 | g.206767244A>T | CA350071841 | FASTKD2 | c.551A>T (p.Tyr184Phe) n.609A>T | |
2 | g.206767245T>A | CA350071845 | FASTKD2 | c.552T>A (p.Tyr184Ter) n.610T>A | |
2 | g.206767245T>C | CA431114649 | FASTKD2 | c.552T>C (p.Tyr184=) n.610T>C | |
2 | g.206767245T>G | CA350071846 | FASTKD2 | c.552T>G (p.Tyr184Ter) n.610T>G | |
2 | g.206767247del | CA2662829151 | FASTKD2 | c.554del (p.Phe185SerfsTer22) n.612del | gnomAD v4 |
2 | g.206767246T>A | CA350071848 | FASTKD2 | c.553T>A (p.Phe185Ile) n.611T>A | |
2 | g.206767246T>C | CA350071850 | FASTKD2 | c.553T>C (p.Phe185Leu) n.611T>C | gnomAD v4 |
2 | g.206767246T>G | CA350071858 | FASTKD2 | c.553T>G (p.Phe185Val) n.611T>G | |
2 | g.206767247T>A | CA350071864 | FASTKD2 | c.554T>A (p.Phe185Tyr) n.612T>A | |
2 | g.206767247T>C | CA350071861 | FASTKD2 | c.554T>C (p.Phe185Ser) n.612T>C | COSMIC |
2 | g.206767247T>G | CA350071863 | FASTKD2 | c.554T>G (p.Phe185Cys) n.612T>G | |
2 | g.206767247_206767257delinsTCACAGCAATG | CA1323320532 | FASTKD2 | c.554_564delinsTCACAGCAATG (p.Phe185=) n.612_622delinsTCACAGCAATG | |
2 | g.206767248C>A | CA350071867 | FASTKD2 | c.555C>A (p.Phe185Leu) n.613C>A | |
2 | g.206767248C>G | CA350071868 | FASTKD2 | c.555C>G (p.Phe185Leu) n.613C>G | |
2 | g.206767248C>T | CA431114650 | FASTKD2 | c.555C>T (p.Phe185=) n.613C>T | gnomAD v4 |
2 | g.206767248_206767257del | CA1323320533 | FASTKD2 | c.555_564del (p.Thr186GlyfsTer18) n.613_622del | dbSNP |
2 | g.206767249A= | CA1323320534 | FASTKD2 | c.556A= (p.Thr186=) n.614A= | |
2 | g.206767249A>C | CA350071871 | FASTKD2 | c.556A>C (p.Thr186Pro) n.614A>C | dbSNP |
2 | g.206767249A>G | CA350071874 | FASTKD2 | c.556A>G (p.Thr186Ala) n.614A>G | |
2 | g.206767249A>T | CA350071875 | FASTKD2 | c.556A>T (p.Thr186Ser) n.614A>T | |
2 | g.206767250C>A | CA350071887 | FASTKD2 | c.557C>A (p.Thr186Lys) n.615C>A | |
2 | g.206767250C>G | CA350071882 | FASTKD2 | c.557C>G (p.Thr186Arg) n.615C>G | |
2 | g.206767250C>T | CA350071879 | FASTKD2 | c.557C>T (p.Thr186Ile) n.615C>T | |
2 | g.206767251A= | CA1323320535 | FASTKD2 | c.558A= (p.Thr186=) n.616A= | |
2 | g.206767251A>C | CA431114651 | FASTKD2 | c.558A>C (p.Thr186=) n.616A>C | |
2 | g.206767251A>G | CA2074904 | FASTKD2 | c.558A>G (p.Thr186=) n.616A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767251A>T | CA431114652 | FASTKD2 | c.558A>T (p.Thr186=) n.616A>T | |
2 | g.206767252G>A | CA350071901 | FASTKD2 | c.559G>A (p.Ala187Thr) n.617G>A | COSMIC |
2 | g.206767252G>C | CA350071896 | FASTKD2 | c.559G>C (p.Ala187Pro) n.617G>C | |
2 | g.206767252G>T | CA350071899 | FASTKD2 | c.559G>T (p.Ala187Ser) n.617G>T | |
2 | g.206767253C>A | CA350071904 | FASTKD2 | c.560C>A (p.Ala187Glu) n.618C>A | |
2 | g.206767253C= | CA1323320536 | FASTKD2 | c.560C= (p.Ala187=) n.618C= | |
2 | g.206767253C>G | CA350071907 | FASTKD2 | c.560C>G (p.Ala187Gly) n.618C>G | |
2 | g.206767253C>T | CA350071915 | FASTKD2 | c.560C>T (p.Ala187Val) n.618C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767254A>C | CA431114656 | FASTKD2 | c.561A>C (p.Ala187=) n.619A>C | |
2 | g.206767254A>G | CA431114657 | FASTKD2 | c.561A>G (p.Ala187=) n.619A>G | gnomAD v4 |
2 | g.206767254A>T | CA431114658 | FASTKD2 | c.561A>T (p.Ala187=) n.619A>T | |
2 | g.206767255A= | CA1323320537 | FASTKD2 | c.562A= (p.Met188=) n.620A= | |
2 | g.206767255A>C | CA350071918 | FASTKD2 | c.562A>C (p.Met188Leu) n.620A>C | |
2 | g.206767255A>G | CA63710076 | FASTKD2 | c.562A>G (p.Met188Val) n.620A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767255A>T | CA350071926 | FASTKD2 | c.562A>T (p.Met188Leu) n.620A>T | gnomAD v4 |
2 | g.206767256T>A | CA350071928 | FASTKD2 | c.563T>A (p.Met188Lys) n.621T>A | |
2 | g.206767256T>C | CA350071930 | FASTKD2 | c.563T>C (p.Met188Thr) n.621T>C | |
2 | g.206767256T>G | CA350071933 | FASTKD2 | c.563T>G (p.Met188Arg) n.621T>G | |
2 | g.206767257G>A | CA350071938 | FASTKD2 | c.564G>A (p.Met188Ile) n.622G>A | |
2 | g.206767257G>C | CA350071935 | FASTKD2 | c.564G>C (p.Met188Ile) n.622G>C | |
2 | g.206767257G>T | CA350071934 | FASTKD2 | c.564G>T (p.Met188Ile) n.622G>T | COSMIC |
2 | g.206767258T>A | CA350071940 | FASTKD2 | c.565T>A (p.Trp189Arg) n.623T>A | |
2 | g.206767258T>C | CA350071943 | FASTKD2 | c.565T>C (p.Trp189Arg) n.623T>C | gnomAD v4 |
2 | g.206767258T>G | CA350071948 | FASTKD2 | c.565T>G (p.Trp189Gly) n.623T>G | |
2 | g.206767259G>A | CA350071951 | FASTKD2 | c.566G>A (p.Trp189Ter) n.624G>A | gnomAD v4 |
2 | g.206767259G>C | CA350071956 | FASTKD2 | c.566G>C (p.Trp189Ser) n.624G>C | |
2 | g.206767259G>T | CA350071959 | FASTKD2 | c.566G>T (p.Trp189Leu) n.624G>T | |
2 | g.206767260G>A | CA350071963 | FASTKD2 | c.567G>A (p.Trp189Ter) n.625G>A | dbSNP |
2 | g.206767260G>C | CA350071965 | FASTKD2 | c.567G>C (p.Trp189Cys) n.625G>C | gnomAD v4 |
2 | g.206767260G= | CA1323320538 | FASTKD2 | c.567G= (p.Trp189=) n.625G= | |
2 | g.206767260G>T | CA350071969 | FASTKD2 | c.567G>T (p.Trp189Cys) n.625G>T | |
2 | g.206767260_206767261delinsGA | CA1323320539 | FASTKD2 | c.567_568delinsGA (p.Trp189=) n.625_626delinsGA | |
2 | g.206767261del | CA1323320540 | FASTKD2 | c.568del (p.Thr190GlnfsTer17) n.626del | dbSNP |
2 | g.206767261A>C | CA350071973 | FASTKD2 | c.568A>C (p.Thr190Pro) n.626A>C | |
2 | g.206767261A>G | CA350071976 | FASTKD2 | c.568A>G (p.Thr190Ala) n.626A>G | |
2 | g.206767261A>T | CA350071977 | FASTKD2 | c.568A>T (p.Thr190Ser) n.626A>T | |
2 | g.206767262C>A | CA350071989 | FASTKD2 | c.569C>A (p.Thr190Lys) n.627C>A | |
2 | g.206767262C= | CA1323320541 | FASTKD2 | c.569C= (p.Thr190=) n.627C= | |
2 | g.206767262C>G | CA350071988 | FASTKD2 | c.569C>G (p.Thr190Arg) n.627C>G | dbSNP gnomAD v4 |
2 | g.206767262C>T | CA350071984 | FASTKD2 | c.569C>T (p.Thr190Ile) n.627C>T | |
2 | g.206767263A>C | CA431114667 | FASTKD2 | c.570A>C (p.Thr190=) n.628A>C | |
2 | g.206767263A>G | CA431114668 | FASTKD2 | c.570A>G (p.Thr190=) n.628A>G | |
2 | g.206767263A>T | CA431114669 | FASTKD2 | c.570A>T (p.Thr190=) n.628A>T | |
2 | g.206767264A= | CA1323320542 | FASTKD2 | c.571A= (p.Ile191=) n.629A= | |
2 | g.206767264A>C | CA350071990 | FASTKD2 | c.571A>C (p.Ile191Leu) n.629A>C | |
2 | g.206767264A>G | CA350071991 | FASTKD2 | c.571A>G (p.Ile191Val) n.629A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767264A>T | CA350071992 | FASTKD2 | c.571A>T (p.Ile191Phe) n.629A>T | |
2 | g.206767265T>A | CA350071995 | FASTKD2 | c.572T>A (p.Ile191Asn) n.630T>A | |
2 | g.206767265T>C | CA350071997 | FASTKD2 | c.572T>C (p.Ile191Thr) n.630T>C | gnomAD v4 COSMIC |
2 | g.206767265T>G | CA350072001 | FASTKD2 | c.572T>G (p.Ile191Ser) n.630T>G | |
2 | g.206767265_206767280delinsTTGCCAAAAGACTGTC | CA1323320543 | FASTKD2 | c.572_587delinsTTGCCAAAAGACTGTC (p.Ile191=) n.630_645delinsTTGCCAAAAGACTGTC | |
2 | g.206767266T>A | CA431114673 | FASTKD2 | c.573T>A (p.Ile191=) n.631T>A | |
2 | g.206767266T>C | CA431114675 | FASTKD2 | c.573T>C (p.Ile191=) n.631T>C | |
2 | g.206767266T>G | CA350072004 | FASTKD2 | c.573T>G (p.Ile191Met) n.631T>G | dbSNP |
2 | g.206767266T= | CA1323320544 | FASTKD2 | c.573T= (p.Ile191=) n.631T= | |
2 | g.206767268_206767282del | CA539388779 | FASTKD2 | c.575_589del (p.Ala192_Ser196del) n.633_647del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767267G>A | CA350072009 | FASTKD2 | c.574G>A (p.Ala192Thr) n.632G>A | |
2 | g.206767267G>C | CA350072012 | FASTKD2 | c.574G>C (p.Ala192Pro) n.632G>C | |
2 | g.206767267G= | CA1323320545 | FASTKD2 | c.574G= (p.Ala192=) n.632G= | |
2 | g.206767267G>T | CA350072016 | FASTKD2 | c.574G>T (p.Ala192Ser) n.632G>T | |
2 | g.206767267_206767268insT | CA1323320546 | FASTKD2 | c.574_575insT (p.Ala192ValfsTer6) n.632_633insT | dbSNP |
2 | g.206767268C>A | CA350072020 | FASTKD2 | c.575C>A (p.Ala192Asp) n.633C>A | |
2 | g.206767268C>G | CA350072024 | FASTKD2 | c.575C>G (p.Ala192Gly) n.633C>G | |
2 | g.206767268C>T | CA350072030 | FASTKD2 | c.575C>T (p.Ala192Val) n.633C>T | gnomAD v4 |
2 | g.206767269C>A | CA431114679 | FASTKD2 | c.576C>A (p.Ala192=) n.634C>A | |
2 | g.206767269C>G | CA431114681 | FASTKD2 | c.576C>G (p.Ala192=) n.634C>G | |
2 | g.206767269C>T | CA431114680 | FASTKD2 | c.576C>T (p.Ala192=) n.634C>T | gnomAD v4 |
2 | g.206767269_206767270delinsCA | CA1323320547 | FASTKD2 | c.576_577delinsCA (p.Ala192=) n.634_635delinsCA | |
2 | g.206767270A= | CA1323320548 | FASTKD2 | c.577A= (p.Lys193=) n.635A= | |
2 | g.206767270A>C | CA350072044 | FASTKD2 | c.577A>C (p.Lys193Gln) n.635A>C | |
2 | g.206767270A>G | CA350072033 | FASTKD2 | c.577A>G (p.Lys193Glu) n.635A>G | |
2 | g.206767270A>T | CA350072042 | FASTKD2 | c.577A>T (p.Lys193Ter) n.635A>T | |
2 | g.206767273del | CA539388780 | FASTKD2 | c.580del (p.Arg194AspfsTer13) n.638del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767272_206767273del | CA2577223898 | FASTKD2 | c.579_580del (p.Arg194ThrfsTer3) n.637_638del | gnomAD v4 |
2 | g.206767270_206767271insCATTGCTGTG | CA1323320550 | FASTKD2 | c.577_578insCATTGCTGTG (p.Lys193ThrfsTer4) n.635_636insCATTGCTGTG | dbSNP |
2 | g.206767271A= | CA1323320549 | FASTKD2 | c.578A= (p.Lys193=) n.636A= | |
2 | g.206767271A>C | CA350072045 | FASTKD2 | c.578A>C (p.Lys193Thr) n.636A>C | |
2 | g.206767271A>G | CA2074905 | FASTKD2 | c.578A>G (p.Lys193Arg) n.636A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767271A>T | CA350072049 | FASTKD2 | c.578A>T (p.Lys193Ile) n.636A>T | |
2 | g.206767272A>C | CA350072054 | FASTKD2 | c.579A>C (p.Lys193Asn) n.637A>C | |
2 | g.206767272A>G | CA431114687 | FASTKD2 | c.579A>G (p.Lys193=) n.637A>G | |
2 | g.206767272A>T | CA350072056 | FASTKD2 | c.579A>T (p.Lys193Asn) n.637A>T | |
2 | g.206767273A>C | CA431114689 | FASTKD2 | c.580A>C (p.Arg194=) n.638A>C | |
2 | g.206767273A>G | CA350072060 | FASTKD2 | c.580A>G (p.Arg194Gly) n.638A>G | |
2 | g.206767273A>T | CA350072062 | FASTKD2 | c.580A>T (p.Arg194Ter) n.638A>T | |
2 | g.206767274G>A | CA350072064 | FASTKD2 | c.581G>A (p.Arg194Lys) n.639G>A | |
2 | g.206767274G>C | CA350072066 | FASTKD2 | c.581G>C (p.Arg194Thr) n.639G>C | |
2 | g.206767274G= | CA1323320551 | FASTKD2 | c.581G= (p.Arg194=) n.639G= | |
2 | g.206767274G>T | CA350072069 | FASTKD2 | c.581G>T (p.Arg194Ile) n.639G>T | dbSNP |
2 | g.206767275A>C | CA350072077 | FASTKD2 | c.582A>C (p.Arg194Ser) n.640A>C | |
2 | g.206767275A>G | CA431114693 | FASTKD2 | c.582A>G (p.Arg194=) n.640A>G | |
2 | g.206767275A>T | CA350072095 | FASTKD2 | c.582A>T (p.Arg194Ser) n.640A>T | |
2 | g.206767275_206767277delinsACT | CA1323320552 | FASTKD2 | c.582_584delinsACT (p.Arg194=) n.640_642delinsACT | |
2 | g.206767275_206767279delinsACTGT | CA1323320553 | FASTKD2 | c.582_586delinsACTGT (p.Arg194=) n.640_644delinsACTGT | |
2 | g.206767276C>A | CA350072100 | FASTKD2 | c.583C>A (p.Leu195Met) n.641C>A | gnomAD v4 |
2 | g.206767276C= | CA1323320554 | FASTKD2 | c.583C= (p.Leu195=) n.641C= | |
2 | g.206767276C>G | CA63710104 | FASTKD2 | c.583C>G (p.Leu195Val) n.641C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767276C>T | CA431114697 | FASTKD2 | c.583C>T (p.Leu195=) n.641C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767276_206767277del | CA1323320556 | FASTKD2 | c.583_584del (p.Leu195ValfsTer2) n.641_642del | dbSNP |
2 | g.206767279_206767282del | CA1323320555 | FASTKD2 | c.586_589del (p.Ser196MetfsTer10) n.644_647del | dbSNP |
2 | g.206767277T>A | CA350072125 | FASTKD2 | c.584T>A (p.Leu195Gln) n.642T>A | |
2 | g.206767277T>C | CA350072137 | FASTKD2 | c.584T>C (p.Leu195Pro) n.642T>C | |
2 | g.206767277T>G | CA350072133 | FASTKD2 | c.584T>G (p.Leu195Arg) n.642T>G | |
2 | g.206767278G>A | CA431114699 | FASTKD2 | c.585G>A (p.Leu195=) n.643G>A | |
2 | g.206767278G>C | CA431114700 | FASTKD2 | c.585G>C (p.Leu195=) n.643G>C | |
2 | g.206767278G>T | CA431114703 | FASTKD2 | c.585G>T (p.Leu195=) n.643G>T | |
2 | g.206767279T>A | CA350072143 | FASTKD2 | c.586T>A (p.Ser196Thr) n.644T>A | |
2 | g.206767279T>C | CA350072162 | FASTKD2 | c.586T>C (p.Ser196Pro) n.644T>C | |
2 | g.206767279T>G | CA350072160 | FASTKD2 | c.586T>G (p.Ser196Ala) n.644T>G |