Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47286354_47286355del | CA8623029 | ITGB3 | c.709_710del (p.Ser237CysfsTer13) c.674_675del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286354A>C | CA400023565 | ITGB3 | c.709A>C (p.Ser237Arg) c.674A>C | |
17 | g.47286354A>G | CA400023566 | ITGB3 | c.709A>G (p.Ser237Gly) c.674A>G | |
17 | g.47286354A>T | CA400023567 | ITGB3 | c.709A>T (p.Ser237Cys) c.674A>T | |
17 | g.47286355G>A | CA400023568 | ITGB3 | c.710G>A (p.Ser237Asn) c.675G>A | gnomAD v4 |
17 | g.47286355G>C | CA400023569 | ITGB3 | c.710G>C (p.Ser237Thr) c.675G>C | |
17 | g.47286355G>T | CA400023570 | ITGB3 | c.710G>T (p.Ser237Ile) c.675G>T | |
17 | g.47286356T>A | CA400023571 | ITGB3 | c.711T>A (p.Ser237Arg) c.676T>A | dbSNP gnomAD v2 |
17 | g.47286356T>C | CA500432006 | ITGB3 | c.711T>C (p.Ser237=) c.676T>C | gnomAD v4 |
17 | g.47286356T>G | CA8623030 | ITGB3 | c.711T>G (p.Ser237Arg) c.676T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286356T= | CA2262606009 | ITGB3 | c.711T= (p.Ser237=) c.676T= | |
17 | g.47286357G>A | CA400023572 | ITGB3 | c.712G>A (p.Val238Met) c.677G>A | |
17 | g.47286357G>C | CA400023573 | ITGB3 | c.712G>C (p.Val238Leu) c.677G>C | |
17 | g.47286357G>T | CA400023574 | ITGB3 | c.712G>T (p.Val238Leu) c.677G>T | |
17 | g.47286358T>A | CA400023577 | ITGB3 | c.713T>A (p.Val238Glu) c.678T>A | |
17 | g.47286358T>C | CA400023576 | ITGB3 | c.713T>C (p.Val238Ala) c.678T>C | |
17 | g.47286358T>G | CA400023575 | ITGB3 | c.713T>G (p.Val238Gly) c.678T>G | |
17 | g.47286359G>A | CA500432009 | ITGB3 | c.714G>A (p.Val238=) c.679G>A | gnomAD v4 |
17 | g.47286359G>C | CA500432007 | ITGB3 | c.714G>C (p.Val238=) c.679G>C | |
17 | g.47286359G>T | CA500432008 | ITGB3 | c.714G>T (p.Val238=) c.679G>T | |
17 | g.47286360T>A | CA400023578 | ITGB3 | c.715T>A (p.Ser239Thr) c.680T>A | |
17 | g.47286360T>C | CA400023579 | ITGB3 | c.715T>C (p.Ser239Pro) c.680T>C | |
17 | g.47286360T>G | CA400023580 | ITGB3 | c.715T>G (p.Ser239Ala) c.680T>G | |
17 | g.47286361C>A | CA400023581 | ITGB3 | c.716C>A (p.Ser239Ter) c.681C>A | |
17 | g.47286361C>G | CA400023582 | ITGB3 | c.716C>G (p.Ser239Ter) c.681C>G | |
17 | g.47286361C>T | CA400023583 | ITGB3 | c.716C>T (p.Ser239Leu) c.681C>T | |
17 | g.47286362del | CA2638435537 | ITGB3 | c.717del (p.Arg240GlyfsTer?) c.682del | gnomAD v4 |
17 | g.47286362A>C | CA500432011 | ITGB3 | c.717A>C (p.Ser239=) c.682A>C | |
17 | g.47286362A>G | CA500432010 | ITGB3 | c.717A>G (p.Ser239=) c.682A>G | |
17 | g.47286362A>T | CA500432012 | ITGB3 | c.717A>T (p.Ser239=) c.682A>T | |
17 | g.47286363C>A | CA500432013 | ITGB3 | c.718C>A (p.Arg240=) c.683C>A | |
17 | g.47286363C= | CA2262606010 | ITGB3 | c.718C= (p.Arg240=) c.683C= | |
17 | g.47286363C>G | CA400023584 | ITGB3 | c.718C>G (p.Arg240Gly) c.683C>G | |
17 | g.47286363C>T | CA123228 | ITGB3 | c.718C>T (p.Arg240Trp) c.683C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286364G>A | CA123224 | ITGB3 | c.719G>A (p.Arg240Gln) c.684G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286364G>C | CA400023585 | ITGB3 | c.719G>C (p.Arg240Pro) c.684G>C | |
17 | g.47286364G= | CA2262606011 | ITGB3 | c.719G= (p.Arg240=) c.684G= | |
17 | g.47286364G>T | CA400023586 | ITGB3 | c.719G>T (p.Arg240Leu) c.684G>T | |
17 | g.47286365G>A | CA500432014 | ITGB3 | c.720G>A (p.Arg240=) c.685G>A | gnomAD v4 |
17 | g.47286365G>C | CA500432016 | ITGB3 | c.720G>C (p.Arg240=) c.685G>C | |
17 | g.47286365G>T | CA500432015 | ITGB3 | c.720G>T (p.Arg240=) c.685G>T | |
17 | g.47286366A>C | CA400023587 | ITGB3 | c.721A>C (p.Asn241His) c.686A>C | |
17 | g.47286366A>G | CA400023588 | ITGB3 | c.721A>G (p.Asn241Asp) c.686A>G | |
17 | g.47286366A>T | CA400023589 | ITGB3 | c.721A>T (p.Asn241Tyr) c.686A>T | |
17 | g.47286367A>C | CA400023591 | ITGB3 | c.722A>C (p.Asn241Thr) c.687A>C | |
17 | g.47286367A>G | CA400023592 | ITGB3 | c.722A>G (p.Asn241Ser) c.687A>G | |
17 | g.47286367A>T | CA400023590 | ITGB3 | c.722A>T (p.Asn241Ile) c.687A>T | |
17 | g.47286368C>A | CA400023593 | ITGB3 | c.723C>A (p.Asn241Lys) c.688C>A | |
17 | g.47286368C>G | CA400023594 | ITGB3 | c.723C>G (p.Asn241Lys) c.688C>G | |
17 | g.47286368C>T | CA500432017 | ITGB3 | c.723C>T (p.Asn241=) c.688C>T | ClinVar gnomAD v4 |
17 | g.47286369C>A | CA8623031 | ITGB3 | c.724C>A (p.Arg242=) c.689C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286369C= | CA2262606012 | ITGB3 | c.724C= (p.Arg242=) c.689C= | |
17 | g.47286369C>G | CA400023595 | ITGB3 | c.724C>G (p.Arg242Gly) c.689C>G | |
17 | g.47286369C>T | CA400023596 | ITGB3 | c.724C>T (p.Arg242Ter) c.689C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286370G>A | CA291224896 | ITGB3 | c.725G>A (p.Arg242Gln) c.690G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286370G>C | CA400023597 | ITGB3 | c.725G>C (p.Arg242Pro) c.690G>C | |
17 | g.47286370G= | CA2262606013 | ITGB3 | c.725G= (p.Arg242=) c.690G= | |
17 | g.47286370G>T | CA400023598 | ITGB3 | c.725G>T (p.Arg242Leu) c.690G>T | |
17 | g.47286371A>C | CA500432019 | ITGB3 | c.726A>C (p.Arg242=) c.691A>C | |
17 | g.47286371A>G | CA500432020 | ITGB3 | c.726A>G (p.Arg242=) c.691A>G | |
17 | g.47286371A>T | CA500432018 | ITGB3 | c.726A>T (p.Arg242=) c.691A>T | |
17 | g.47286372G>A | CA400023599 | ITGB3 | c.727G>A (p.Asp243Asn) c.692G>A | |
17 | g.47286372G>C | CA400023600 | ITGB3 | c.727G>C (p.Asp243His) c.692G>C | ClinVar dbSNP gnomAD v4 |
17 | g.47286372G= | CA2262606014 | ITGB3 | c.727G= (p.Asp243=) c.692G= | |
17 | g.47286372G>T | CA400023601 | ITGB3 | c.727G>T (p.Asp243Tyr) c.692G>T | |
17 | g.47286373A>C | CA400023602 | ITGB3 | c.728A>C (p.Asp243Ala) c.693A>C | |
17 | g.47286373A>G | CA400023603 | ITGB3 | c.728A>G (p.Asp243Gly) c.693A>G | gnomAD v4 |
17 | g.47286373A>T | CA400023604 | ITGB3 | c.728A>T (p.Asp243Val) c.693A>T | ClinVar dbSNP |
17 | g.47286374T>A | CA400023605 | ITGB3 | c.729T>A (p.Asp243Glu) c.694T>A | |
17 | g.47286374T>C | CA500432021 | ITGB3 | c.729T>C (p.Asp243=) c.694T>C | gnomAD v4 |
17 | g.47286374T>G | CA400023606 | ITGB3 | c.729T>G (p.Asp243Glu) c.694T>G | |
17 | g.47286375G>A | CA400023607 | ITGB3 | c.730G>A (p.Ala244Thr) c.695G>A | |
17 | g.47286375G>C | CA400023608 | ITGB3 | c.730G>C (p.Ala244Pro) c.695G>C | |
17 | g.47286375G>T | CA400023609 | ITGB3 | c.730G>T (p.Ala244Ser) c.695G>T | |
17 | g.47286376C>A | CA400023610 | ITGB3 | c.731C>A (p.Ala244Asp) c.696C>A | |
17 | g.47286376C>G | CA400023611 | ITGB3 | c.731C>G (p.Ala244Gly) c.696C>G | |
17 | g.47286376C>T | CA400023612 | ITGB3 | c.731C>T (p.Ala244Val) c.696C>T | |
17 | g.47286377C>A | CA500432022 | ITGB3 | c.732C>A (p.Ala244=) c.697C>A | |
17 | g.47286377C= | CA2262606015 | ITGB3 | c.732C= (p.Ala244=) c.697C= | |
17 | g.47286377C>G | CA500432024 | ITGB3 | c.732C>G (p.Ala244=) c.697C>G | |
17 | g.47286377C>T | CA500432023 | ITGB3 | c.732C>T (p.Ala244=) c.697C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286378C>A | CA400023613 | ITGB3 | c.733C>A (p.Pro245Thr) c.698C>A | |
17 | g.47286378C>G | CA400023614 | ITGB3 | c.733C>G (p.Pro245Ala) c.698C>G | |
17 | g.47286378C>T | CA400023615 | ITGB3 | c.733C>T (p.Pro245Ser) c.698C>T | |
17 | g.47286379C>A | CA400023616 | ITGB3 | c.734C>A (p.Pro245Gln) c.699C>A | |
17 | g.47286379C>G | CA400023617 | ITGB3 | c.734C>G (p.Pro245Arg) c.699C>G | |
17 | g.47286379C>T | CA400023618 | ITGB3 | c.734C>T (p.Pro245Leu) c.699C>T | |
17 | g.47286380A>C | CA500432026 | ITGB3 | c.735A>C (p.Pro245=) c.700A>C | |
17 | g.47286380A>G | CA500432027 | ITGB3 | c.735A>G (p.Pro245=) c.700A>G | |
17 | g.47286380A>T | CA500432025 | ITGB3 | c.735A>T (p.Pro245=) c.700A>T | |
17 | g.47286381G>A | CA400023619 | ITGB3 | c.736G>A (p.Glu246Lys) c.701G>A | COSMIC COSMIC COSMIC |
17 | g.47286381G>C | CA400023621 | ITGB3 | c.736G>C (p.Glu246Gln) c.701G>C | |
17 | g.47286381G>T | CA400023620 | ITGB3 | c.736G>T (p.Glu246Ter) c.701G>T | |
17 | g.47286382A>C | CA400023622 | ITGB3 | c.737A>C (p.Glu246Ala) c.702A>C | |
17 | g.47286382A>G | CA400023624 | ITGB3 | c.737A>G (p.Glu246Gly) c.702A>G | |
17 | g.47286382A>T | CA400023623 | ITGB3 | c.737A>T (p.Glu246Val) c.702A>T | |
17 | g.47286383G>A | CA500432028 | ITGB3 | c.738G>A (p.Glu246=) c.703G>A | |
17 | g.47286383G>C | CA400023625 | ITGB3 | c.738G>C (p.Glu246Asp) c.703G>C | |
17 | g.47286383G>T | CA400023626 | ITGB3 | c.738G>T (p.Glu246Asp) c.703G>T | |
17 | g.47286384G>A | CA400023627 | ITGB3 | c.739G>A (p.Gly247Ser) c.704G>A | |
17 | g.47286384G>C | CA400023628 | ITGB3 | c.739G>C (p.Gly247Arg) c.704G>C | |
17 | g.47286384G>T | CA400023629 | ITGB3 | c.739G>T (p.Gly247Cys) c.704G>T | |
17 | g.47286384_47286386delinsGGT | CA2262606016 | ITGB3 | c.739_741delinsGGT (p.Gly247=) c.704_706delinsGGT | |
17 | g.47286385G>A | CA123256 | ITGB3 | c.740G>A (p.Gly247Asp) c.705G>A | ClinVar dbSNP |
17 | g.47286385G>C | CA400023630 | ITGB3 | c.740G>C (p.Gly247Ala) c.705G>C | |
17 | g.47286385G= | CA2262606017 | ITGB3 | c.740G= (p.Gly247=) c.705G= | |
17 | g.47286385G>T | CA400023631 | ITGB3 | c.740G>T (p.Gly247Val) c.705G>T | |
17 | g.47286386_47286387del | CA626684841 | ITGB3 | c.741_742del (p.Gly248LeufsTer2) c.706_707del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286386T>A | CA500432029 | ITGB3 | c.741T>A (p.Gly247=) c.706T>A | |
17 | g.47286386T>C | CA500432030 | ITGB3 | c.741T>C (p.Gly247=) c.706T>C | |
17 | g.47286386T>G | CA500432031 | ITGB3 | c.741T>G (p.Gly247=) c.706T>G | |
17 | g.47286387G>A | CA400023632 | ITGB3 | c.742G>A (p.Gly248Ser) c.707G>A | gnomAD v4 |
17 | g.47286387G>C | CA400023633 | ITGB3 | c.742G>C (p.Gly248Arg) c.707G>C | |
17 | g.47286387G>T | CA400023634 | ITGB3 | c.742G>T (p.Gly248Cys) c.707G>T | |
17 | g.47286388G>A | CA400023637 | ITGB3 | c.743G>A (p.Gly248Asp) c.708G>A | gnomAD v4 |
17 | g.47286388G>C | CA400023636 | ITGB3 | c.743G>C (p.Gly248Ala) c.708G>C | |
17 | g.47286388G>T | CA400023635 | ITGB3 | c.743G>T (p.Gly248Val) c.708G>T | |
17 | g.47286389C>A | CA500432032 | ITGB3 | c.744C>A (p.Gly248=) c.709C>A | |
17 | g.47286389C= | CA2262606018 | ITGB3 | c.744C= (p.Gly248=) c.709C= | |
17 | g.47286389C>G | CA500432033 | ITGB3 | c.744C>G (p.Gly248=) c.709C>G | |
17 | g.47286389C>T | CA8623032 | ITGB3 | c.744C>T (p.Gly248=) c.709C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286389_47286393delinsCTTTG | CA2262606019 | ITGB3 | c.744_748delinsCTTTG (p.Gly248=) c.709_713delinsCTTTG | |
17 | g.47286390T>A | CA400023638 | ITGB3 | c.745T>A (p.Phe249Ile) c.710T>A | |
17 | g.47286390T>C | CA400023639 | ITGB3 | c.745T>C (p.Phe249Leu) c.710T>C | |
17 | g.47286390T>G | CA400023640 | ITGB3 | c.745T>G (p.Phe249Val) c.710T>G | |
17 | g.47286390_47286393del | CA626684842 | ITGB3 | c.745_748del (p.Phe249MetfsTer?) c.710_713del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286391T>A | CA400023641 | ITGB3 | c.746T>A (p.Phe249Tyr) c.711T>A | dbSNP |
17 | g.47286391T>C | CA400023642 | ITGB3 | c.746T>C (p.Phe249Ser) c.711T>C | |
17 | g.47286391T>G | CA400023643 | ITGB3 | c.746T>G (p.Phe249Cys) c.711T>G | |
17 | g.47286391T= | CA2262606020 | ITGB3 | c.746T= (p.Phe249=) c.711T= | |
17 | g.47286392T>A | CA400023644 | ITGB3 | c.747T>A (p.Phe249Leu) c.712T>A | |
17 | g.47286392T>C | CA500432034 | ITGB3 | c.747T>C (p.Phe249=) c.712T>C | |
17 | g.47286392T>G | CA400023645 | ITGB3 | c.747T>G (p.Phe249Leu) c.712T>G | |
17 | g.47286393G>A | CA400023646 | ITGB3 | c.748G>A (p.Asp250Asn) c.713G>A | |
17 | g.47286393G>C | CA400023647 | ITGB3 | c.748G>C (p.Asp250His) c.713G>C | ClinVar |
17 | g.47286393G>T | CA400023648 | ITGB3 | c.748G>T (p.Asp250Tyr) c.713G>T | |
17 | g.47286394A= | CA2262606021 | ITGB3 | c.749A= (p.Asp250=) c.714A= | |
17 | g.47286394A>C | CA400023650 | ITGB3 | c.749A>C (p.Asp250Ala) c.714A>C | |
17 | g.47286394A>G | CA16043530 | ITGB3 | c.749A>G (p.Asp250Gly) c.714A>G | ClinVar dbSNP |
17 | g.47286394A>T | CA400023649 | ITGB3 | c.749A>T (p.Asp250Val) c.714A>T | dbSNP |
17 | g.47286395T>A | CA400023651 | ITGB3 | c.750T>A (p.Asp250Glu) c.715T>A | dbSNP |
17 | g.47286395T>C | CA500432035 | ITGB3 | c.750T>C (p.Asp250=) c.715T>C | gnomAD v4 |
17 | g.47286395T>G | CA400023652 | ITGB3 | c.750T>G (p.Asp250Glu) c.715T>G | gnomAD v4 |
17 | g.47286395T= | CA2262606022 | ITGB3 | c.750T= (p.Asp250=) c.715T= | |
17 | g.47286395_47286397dup | CA2576302256 | ITGB3 | c.750_752dup (p.Ala251_Ile252insAla) c.715_717dup | |
17 | g.47286396G>A | CA400023653 | ITGB3 | c.751G>A (p.Ala251Thr) c.716G>A | |
17 | g.47286396G>C | CA400023654 | ITGB3 | c.751G>C (p.Ala251Pro) c.716G>C | |
17 | g.47286396G= | CA2262606023 | ITGB3 | c.751G= (p.Ala251=) c.716G= | |
17 | g.47286396G>T | CA400023655 | ITGB3 | c.751G>T (p.Ala251Ser) c.716G>T | dbSNP gnomAD v2 |
17 | g.47286396_47286397insTAG | CA626684843 | ITGB3 | c.751_752insTAG (p.Asp250_Ala251insVal) c.716_717insTAG | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286397C>A | CA400023656 | ITGB3 | c.752C>A (p.Ala251Asp) c.717C>A | |
17 | g.47286397C>G | CA400023657 | ITGB3 | c.752C>G (p.Ala251Gly) c.717C>G | |
17 | g.47286397C>T | CA400023658 | ITGB3 | c.752C>T (p.Ala251Val) c.717C>T | |
17 | g.47286398C>A | CA500432038 | ITGB3 | c.753C>A (p.Ala251=) c.718C>A | |
17 | g.47286398C>G | CA500432036 | ITGB3 | c.753C>G (p.Ala251=) c.718C>G | |
17 | g.47286398C>T | CA500432037 | ITGB3 | c.753C>T (p.Ala251=) c.718C>T | |
17 | g.47286399A= | CA2262606024 | ITGB3 | c.754A= (p.Ile252=) c.719A= | |
17 | g.47286399A>C | CA400023659 | ITGB3 | c.754A>C (p.Ile252Leu) c.719A>C | |
17 | g.47286399A>G | CA8623033 | ITGB3 | c.754A>G (p.Ile252Val) c.719A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286399A>T | CA400023660 | ITGB3 | c.754A>T (p.Ile252Phe) c.719A>T | |
17 | g.47286400T>A | CA400023661 | ITGB3 | c.755T>A (p.Ile252Asn) c.720T>A | gnomAD v4 |
17 | g.47286400T>C | CA400023662 | ITGB3 | c.755T>C (p.Ile252Thr) c.720T>C | |
17 | g.47286400T>G | CA400023663 | ITGB3 | c.755T>G (p.Ile252Ser) c.720T>G | |
17 | g.47286401del | CA923726221 | ITGB3 | c.756del (p.Met253CysfsTer?) c.721del | ClinVar dbSNP |
17 | g.47286401C>A | CA500432039 | ITGB3 | c.756C>A (p.Ile252=) c.721C>A | |
17 | g.47286401C= | CA2262606025 | ITGB3 | c.756C= (p.Ile252=) c.721C= | |
17 | g.47286401C>G | CA400023664 | ITGB3 | c.756C>G (p.Ile252Met) c.721C>G | |
17 | g.47286401C>T | CA500432040 | ITGB3 | c.756C>T (p.Ile252=) c.721C>T | dbSNP |
17 | g.47286402A= | CA2262606026 | ITGB3 | c.757A= (p.Met253=) c.722A= | |
17 | g.47286402A>C | CA400023665 | ITGB3 | c.757A>C (p.Met253Leu) c.722A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286402A>G | CA400023666 | ITGB3 | c.757A>G (p.Met253Val) c.722A>G | gnomAD v4 |
17 | g.47286402A>T | CA400023667 | ITGB3 | c.757A>T (p.Met253Leu) c.722A>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286403T>A | CA400023668 | ITGB3 | c.758T>A (p.Met253Lys) c.723T>A | |
17 | g.47286403T>C | CA400023669 | ITGB3 | c.758T>C (p.Met253Thr) c.723T>C | gnomAD v4 |
17 | g.47286403T>G | CA400023670 | ITGB3 | c.758T>G (p.Met253Arg) c.723T>G | |
17 | g.47286404G>A | CA400023671 | ITGB3 | c.759G>A (p.Met253Ile) c.724G>A | |
17 | g.47286404G>C | CA400023672 | ITGB3 | c.759G>C (p.Met253Ile) c.724G>C | |
17 | g.47286404G>T | CA400023673 | ITGB3 | c.759G>T (p.Met253Ile) c.724G>T | |
17 | g.47286405C>A | CA400023674 | ITGB3 | c.760C>A (p.Gln254Lys) c.725C>A | ClinVar dbSNP |
17 | g.47286405C= | CA2262606027 | ITGB3 | c.760C= (p.Gln254=) c.725C= | |
17 | g.47286405C>G | CA400023675 | ITGB3 | c.760C>G (p.Gln254Glu) c.725C>G | gnomAD v4 |
17 | g.47286405C>T | CA400023676 | ITGB3 | c.760C>T (p.Gln254Ter) c.725C>T | |
17 | g.47286406A= | CA2262606028 | ITGB3 | c.761A= (p.Gln254=) c.726A= | |
17 | g.47286406A>C | CA400023679 | ITGB3 | c.761A>C (p.Gln254Pro) c.726A>C | |
17 | g.47286406A>G | CA400023678 | ITGB3 | c.761A>G (p.Gln254Arg) c.726A>G | ClinVar dbSNP |
17 | g.47286406A>T | CA400023677 | ITGB3 | c.761A>T (p.Gln254Leu) c.726A>T | |
17 | g.47286407G>A | CA500432041 | ITGB3 | c.762G>A (p.Gln254=) c.727G>A | ClinVar |
17 | g.47286407G>C | CA400023680 | ITGB3 | c.762G>C (p.Gln254His) c.727G>C | |
17 | g.47286407G>T | CA400023681 | ITGB3 | c.762G>T (p.Gln254His) c.727G>T | |
17 | g.47286408G>A | CA400023682 | ITGB3 | c.763G>A (p.Ala255Thr) c.728G>A | |
17 | g.47286408G>C | CA400023684 | ITGB3 | c.763G>C (p.Ala255Pro) c.728G>C | |
17 | g.47286408G>T | CA400023683 | ITGB3 | c.763G>T (p.Ala255Ser) c.728G>T | |
17 | g.47286409C>A | CA400023685 | ITGB3 | c.764C>A (p.Ala255Asp) c.729C>A | COSMIC COSMIC COSMIC |
17 | g.47286409C>G | CA400023687 | ITGB3 | c.764C>G (p.Ala255Gly) c.729C>G | |
17 | g.47286409C>T | CA400023686 | ITGB3 | c.764C>T (p.Ala255Val) c.729C>T | gnomAD v4 |
17 | g.47286410T>A | CA500432043 | ITGB3 | c.765T>A (p.Ala255=) c.730T>A | |
17 | g.47286410T>C | CA500432042 | ITGB3 | c.765T>C (p.Ala255=) c.730T>C | |
17 | g.47286410T>G | CA500432044 | ITGB3 | c.765T>G (p.Ala255=) c.730T>G | |
17 | g.47286411A= | CA2262606029 | ITGB3 | c.766A= (p.Thr256=) c.731A= | |
17 | g.47286411A>C | CA400023688 | ITGB3 | c.766A>C (p.Thr256Pro) c.731A>C | |
17 | g.47286411A>G | CA8623034 | ITGB3 | c.766A>G (p.Thr256Ala) c.731A>G | dbSNP ExAC gnomAD v2 |
17 | g.47286411A>T | CA400023689 | ITGB3 | c.766A>T (p.Thr256Ser) c.731A>T | |
17 | g.47286412C>A | CA400023690 | ITGB3 | c.767C>A (p.Thr256Lys) c.732C>A | |
17 | g.47286412C>G | CA400023691 | ITGB3 | c.767C>G (p.Thr256Arg) c.732C>G | |
17 | g.47286412C>T | CA400023692 | ITGB3 | c.767C>T (p.Thr256Ile) c.732C>T | |
17 | g.47286413A= | CA2262606030 | ITGB3 | c.768A= (p.Thr256=) c.733A= | |
17 | g.47286413A>C | CA500432045 | ITGB3 | c.768A>C (p.Thr256=) c.733A>C | |
17 | g.47286413A>G | CA500432047 | ITGB3 | c.768A>G (p.Thr256=) c.733A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286413A>T | CA500432046 | ITGB3 | c.768A>T (p.Thr256=) c.733A>T | |
17 | g.47286414G>A | CA8623035 | ITGB3 | c.769G>A (p.Val257Ile) c.734G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47286414G>C | CA400023693 | ITGB3 | c.769G>C (p.Val257Leu) c.734G>C | |
17 | g.47286414G= | CA2262606031 | ITGB3 | c.769G= (p.Val257=) c.734G= | |
17 | g.47286414G>T | CA400023694 | ITGB3 | c.769G>T (p.Val257Phe) c.734G>T | |
17 | g.47286415T>A | CA400023695 | ITGB3 | c.770T>A (p.Val257Asp) c.735T>A | |
17 | g.47286415T>C | CA400023696 | ITGB3 | c.770T>C (p.Val257Ala) c.735T>C | |
17 | g.47286415T>G | CA400023697 | ITGB3 | c.770T>G (p.Val257Gly) c.735T>G | |
17 | g.47286416C>A | CA500432049 | ITGB3 | c.771C>A (p.Val257=) c.736C>A | gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47286416C>G | CA500432048 | ITGB3 | c.771C>G (p.Val257=) c.736C>G | |
17 | g.47286416C>T | CA500432050 | ITGB3 | c.771C>T (p.Val257=) c.736C>T | gnomAD v4 COSMIC |
17 | g.47286416_47286418delinsCTG | CA2262606032 | ITGB3 | c.771_773delinsCTG (p.Val257=) c.736_738delinsCTG | |
17 | g.47286417T>A | CA400023700 | ITGB3 | c.772T>A (p.Cys258Ser) c.737T>A | |
17 | g.47286417T>C | CA400023698 | ITGB3 | c.772T>C (p.Cys258Arg) c.737T>C | |
17 | g.47286417T>G | CA400023699 | ITGB3 | c.772T>G (p.Cys258Gly) c.737T>G | |
17 | g.47286419_47286420del | CA915940285 | ITGB3 | c.774_775del (p.Cys258Ter) c.739_740del | ClinVar dbSNP |
17 | g.47286418G>A | CA400023701 | ITGB3 | c.773G>A (p.Cys258Tyr) c.738G>A | gnomAD v4 |
17 | g.47286418G>C | CA400023702 | ITGB3 | c.773G>C (p.Cys258Ser) c.738G>C | ClinVar |
17 | g.47286418G>T | CA400023703 | ITGB3 | c.773G>T (p.Cys258Phe) c.738G>T | |
17 | g.47286419T>A | CA400023704 | ITGB3 | c.774T>A (p.Cys258Ter) c.739T>A | ClinVar dbSNP |
17 | g.47286419T>C | CA500432051 | ITGB3 | c.774T>C (p.Cys258=) c.739T>C | |
17 | g.47286419T>G | CA400023705 | ITGB3 | c.774T>G (p.Cys258Trp) c.739T>G | |
17 | g.47286420G>A | CA400023706 | ITGB3 | c.775G>A (p.Asp259Asn) c.740G>A | |
17 | g.47286420G>C | CA400023707 | ITGB3 | c.775G>C (p.Asp259His) c.740G>C | |
17 | g.47286420G>T | CA400023708 | ITGB3 | c.775G>T (p.Asp259Tyr) c.740G>T | |
17 | g.47286421A= | CA2262606033 | ITGB3 | c.776A= (p.Asp259=) c.741A= | |
17 | g.47286421A>C | CA400023709 | ITGB3 | c.776A>C (p.Asp259Ala) c.741A>C | |
17 | g.47286421A>G | CA400023710 | ITGB3 | c.776A>G (p.Asp259Gly) c.741A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286421A>T | CA400023711 | ITGB3 | c.776A>T (p.Asp259Val) c.741A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286422T>A | CA400023712 | ITGB3 | c.777T>A (p.Asp259Glu) c.742T>A | |
17 | g.47286422T>C | CA500432052 | ITGB3 | c.777T>C (p.Asp259=) c.742T>C | dbSNP |
17 | g.47286422T>G | CA400023713 | ITGB3 | c.777T>G (p.Asp259Glu) c.742T>G | |
17 | g.47286422T= | CA2262606034 | ITGB3 | c.777T= (p.Asp259=) c.742T= | |
17 | g.47286423G>A | CA8623036 | ITGB3 | c.777+1G>A (n.777+1G>A) c.742+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286423G>C | CA400023714 | ITGB3 | c.777+1G>C (n.777+1G>C) c.742+1G>C | |
17 | g.47286423G= | CA2262606035 | ITGB3 | c.777+1G= (n.777+1G=) c.742+1G= | |
17 | g.47286423G>T | CA400023715 | ITGB3 | c.777+1G>T (n.777+1G>T) c.742+1G>T | |
17 | g.47286424T>A | CA400023716 | ITGB3 | c.777+2T>A (n.777+2T>A) c.742+2T>A | |
17 | g.47286424T>C | CA400023717 | ITGB3 | c.777+2T>C (n.777+2T>C) c.742+2T>C | |
17 | g.47286424T>G | CA400023718 | ITGB3 | c.777+2T>G (n.777+2T>G) c.742+2T>G | ClinVar gnomAD v4 |
17 | g.47286425G>C | CA291224901 | ITGB3 | c.777+3G>C (n.777+3G>C) c.742+3G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286425G= | CA2262606036 | ITGB3 | c.777+3G= (n.777+3G=) c.742+3G= | |
17 | g.47286427G>A | CA2638435538 | ITGB3 | c.777+5G>A (n.777+5G>A) c.742+5G>A | gnomAD v4 |
17 | g.47286429T>C | CA984234764 | ITGB3 | c.777+7T>C (n.777+7T>C) c.742+7T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286429T= | CA2262606037 | ITGB3 | c.777+7T= (n.777+7T=) c.742+7T= | |
17 | g.47286434G>A | CA2638435539 | ITGB3 | c.777+12G>A (n.777+12G>A) c.742+12G>A | gnomAD v4 |
17 | g.47286434G= | CA2262606038 | ITGB3 | c.777+12G= (n.777+12G=) c.742+12G= | |
17 | g.47286434G>T | CA626684844 | ITGB3 | c.777+12G>T (n.777+12G>T) c.742+12G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286437C>T | CA2638435540 | ITGB3 | c.777+15C>T (n.777+15C>T) c.742+15C>T | gnomAD v4 |
17 | g.47286440G>A | CA2638435541 | ITGB3 | c.777+18G>A (n.777+18G>A) c.742+18G>A | gnomAD v4 |
17 | g.47286440G>C | CA2739268195 | ITGB3 | c.777+18G>C (n.777+18G>C) c.742+18G>C | ClinVar |
17 | g.47286440_47286451delinsGGAGTGCCAGGT | CA2262606039 | ITGB3 | c.777+18_777+29delinsGGAGTGCCAGGT (n.777+18_777+29delinsGGAGTGCCAGGT) c.742+18_742+29delinsGGAGTGCCAGGT | |
17 | g.47286442_47286452del | CA626684845 | ITGB3 | c.777+20_777+30del (n.777+20_777+30del) c.742+20_742+30del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286442A= | CA2262606040 | ITGB3 | c.777+20A= (n.777+20A=) c.742+20A= | |
17 | g.47286442A>G | CA626684846 | ITGB3 | c.777+20A>G (n.777+20A>G) c.742+20A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286443G= | CA2262606041 | ITGB3 | c.777+21G= (n.777+21G=) c.742+21G= | |
17 | g.47286443G>T | CA8623037 | ITGB3 | c.777+21G>T (n.777+21G>T) c.742+21G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286444T>C | CA8623038 | ITGB3 | c.777+22T>C (n.777+22T>C) c.742+22T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286444T>G | CA291224903 | ITGB3 | c.777+22T>G (n.777+22T>G) c.742+22T>G | dbSNP |
17 | g.47286444T= | CA2262606042 | ITGB3 | c.777+22T= (n.777+22T=) c.742+22T= | |
17 | g.47286445G>C | CA8623039 | ITGB3 | c.777+23G>C (n.777+23G>C) c.742+23G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286445G= | CA2262606043 | ITGB3 | c.777+23G= (n.777+23G=) c.742+23G= | |
17 | g.47286445G>T | CA2638435542 | ITGB3 | c.777+23G>T (n.777+23G>T) c.742+23G>T | gnomAD v4 |
17 | g.47286446C= | CA2262606044 | ITGB3 | c.777+24C= (n.777+24C=) c.742+24C= | |
17 | g.47286446C>T | CA8623040 | ITGB3 | c.777+24C>T (n.777+24C>T) c.742+24C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286447C= | CA2262606045 | ITGB3 | c.777+25C= (n.777+25C=) c.742+25C= | |
17 | g.47286447C>T | CA8623041 | ITGB3 | c.777+25C>T (n.777+25C>T) c.742+25C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286449G>A | CA8623042 | ITGB3 | c.777+27G>A (n.777+27G>A) c.742+27G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286449G= | CA2262606046 | ITGB3 | c.777+27G= (n.777+27G=) c.742+27G= | |
17 | g.47286450G>A | CA626684847 | ITGB3 | c.777+28G>A (n.777+28G>A) c.742+28G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286450G= | CA2262606047 | ITGB3 | c.777+28G= (n.777+28G=) c.742+28G= | |
17 | g.47286452G>A | CA2638435543 | ITGB3 | c.777+30G>A (n.777+30G>A) c.742+30G>A | gnomAD v4 |
17 | g.47286453T>G | CA8623043 | ITGB3 | c.777+31T>G (n.777+31T>G) c.742+31T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286453T= | CA2262606048 | ITGB3 | c.777+31T= (n.777+31T=) c.742+31T= | |
17 | g.47286454G>A | CA8623045 | ITGB3 | c.777+32G>A (n.777+32G>A) c.742+32G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286454G= | CA2262606049 | ITGB3 | c.777+32G= (n.777+32G=) c.742+32G= | |
17 | g.47286454G>T | CA8623044 | ITGB3 | c.777+32G>T (n.777+32G>T) c.742+32G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |