Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418847C>A | CA350685772 | DES | c.385C>A (p.Leu129Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418847C= | CA1329210033 | DES | c.385C= (p.Leu129=) | |
2 | g.219418847C>G | CA350685773 | DES | c.385C>G (p.Leu129Val) | |
2 | g.219418847C>T | CA431427617 | DES | c.385C>T (p.Leu129=) | |
2 | g.219418848T>A | CA350685778 | DES | c.386T>A (p.Leu129Gln) | |
2 | g.219418848T>C | CA350685781 | DES | c.386T>C (p.Leu129Pro) | gnomAD v4 |
2 | g.219418848T>G | CA350685782 | DES | c.386T>G (p.Leu129Arg) | ClinVar dbSNP |
2 | g.219418848T= | CA1329210034 | DES | c.386T= (p.Leu129=) | |
2 | g.219418849G>A | CA431427619 | DES | c.387G>A (p.Leu129=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418849G>C | CA431427621 | DES | c.387G>C (p.Leu129=) | gnomAD v4 |
2 | g.219418849G= | CA1329210035 | DES | c.387G= (p.Leu129=) | |
2 | g.219418849G>T | CA431427623 | DES | c.387G>T (p.Leu129=) | |
2 | g.219418850G>A | CA350685786 | DES | c.388G>A (p.Glu130Lys) | |
2 | g.219418850G>C | CA350685784 | DES | c.388G>C (p.Glu130Gln) | |
2 | g.219418850G>T | CA350685783 | DES | c.388G>T (p.Glu130Ter) | gnomAD v4 |
2 | g.219418851A>C | CA350685788 | DES | c.389A>C (p.Glu130Ala) | |
2 | g.219418851A>G | CA350685789 | DES | c.389A>G (p.Glu130Gly) | gnomAD v4 |
2 | g.219418851A>T | CA350685790 | DES | c.389A>T (p.Glu130Val) | |
2 | g.219418852G>A | CA431427627 | DES | c.390G>A (p.Glu130=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418852G>C | CA350685792 | DES | c.390G>C (p.Glu130Asp) | |
2 | g.219418852G= | CA1329210036 | DES | c.390G= (p.Glu130=) | |
2 | g.219418852G>T | CA350685795 | DES | c.390G>T (p.Glu130Asp) | gnomAD v4 |
2 | g.219418853C>A | CA2125062 | DES | c.391C>A (p.Gln131Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418853C= | CA1329210037 | DES | c.391C= (p.Gln131=) | |
2 | g.219418853C>G | CA350685800 | DES | c.391C>G (p.Gln131Glu) | gnomAD v4 |
2 | g.219418853C>T | CA350685804 | DES | c.391C>T (p.Gln131Ter) | |
2 | g.219418853_219418854delinsCA | CA1329210038 | DES | c.391_392delinsCA (p.Gln131=) | |
2 | g.219418854del | CA1329210039 | DES | c.392del (p.Gln131ArgfsTer10) | dbSNP |
2 | g.219418854A>C | CA350685808 | DES | c.392A>C (p.Gln131Pro) | |
2 | g.219418854A>G | CA350685811 | DES | c.392A>G (p.Gln131Arg) | |
2 | g.219418854A>T | CA350685815 | DES | c.392A>T (p.Gln131Leu) | |
2 | g.219418855G>A | CA431427638 | DES | c.393G>A (p.Gln131=) | gnomAD v4 |
2 | g.219418855G>C | CA350685819 | DES | c.393G>C (p.Gln131His) | gnomAD v4 |
2 | g.219418855G>T | CA350685820 | DES | c.393G>T (p.Gln131His) | gnomAD v4 |
2 | g.219418856C>A | CA350685823 | DES | c.394C>A (p.Gln132Lys) | gnomAD v4 |
2 | g.219418856C= | CA1329210040 | DES | c.394C= (p.Gln132=) | |
2 | g.219418856C>G | CA350685826 | DES | c.394C>G (p.Gln132Glu) | |
2 | g.219418856C>T | CA16610670 | DES | c.394C>T (p.Gln132Ter) | ClinVar dbSNP |
2 | g.219418857A= | CA1329210041 | DES | c.395A= (p.Gln132=) | |
2 | g.219418857A>C | CA350685831 | DES | c.395A>C (p.Gln132Pro) | |
2 | g.219418857A>G | CA350685835 | DES | c.395A>G (p.Gln132Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418857A>T | CA350685839 | DES | c.395A>T (p.Gln132Leu) | |
2 | g.219418858G>A | CA431427644 | DES | c.396G>A (p.Gln132=) | gnomAD v4 |
2 | g.219418858G>C | CA350685844 | DES | c.396G>C (p.Gln132His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418858G= | CA1329210042 | DES | c.396G= (p.Gln132=) | |
2 | g.219418858G>T | CA350685850 | DES | c.396G>T (p.Gln132His) | gnomAD v4 |
2 | g.219418859A= | CA1329210043 | DES | c.397A= (p.Asn133=) | |
2 | g.219418859A>C | CA65981215 | DES | c.397A>C (p.Asn133His) | dbSNP |
2 | g.219418859A>G | CA350685858 | DES | c.397A>G (p.Asn133Asp) | |
2 | g.219418859A>T | CA350685861 | DES | c.397A>T (p.Asn133Tyr) | |
2 | g.219418860A>C | CA350685864 | DES | c.398A>C (p.Asn133Thr) | |
2 | g.219418860A>G | CA350685868 | DES | c.398A>G (p.Asn133Ser) | |
2 | g.219418860A>T | CA350685875 | DES | c.398A>T (p.Asn133Ile) | |
2 | g.219418860_219418871delinsACGCGGCGCTCG | CA1329210044 | DES | c.398_409delinsACGCGGCGCTCG (p.Asn133=) | |
2 | g.219418861C>A | CA350685878 | DES | c.399C>A (p.Asn133Lys) | |
2 | g.219418861C>G | CA350685880 | DES | c.399C>G (p.Asn133Lys) | |
2 | g.219418861C>T | CA431427653 | DES | c.399C>T (p.Asn133=) | ClinVar gnomAD v4 |
2 | g.219418862_219418872del | CA1042520775 | DES | c.400_410del (p.Ala134ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418862G>A | CA350685885 | DES | c.400G>A (p.Ala134Thr) | dbSNP gnomAD v2 |
2 | g.219418862G>C | CA350685890 | DES | c.400G>C (p.Ala134Pro) | |
2 | g.219418862G= | CA1329210045 | DES | c.400G= (p.Ala134=) | |
2 | g.219418862G>T | CA350685887 | DES | c.400G>T (p.Ala134Ser) | gnomAD v4 |
2 | g.219418863C>A | CA350685894 | DES | c.401C>A (p.Ala134Glu) | ClinVar gnomAD v4 |
2 | g.219418863C>G | CA350685897 | DES | c.401C>G (p.Ala134Gly) | |
2 | g.219418863C>T | CA350685902 | DES | c.401C>T (p.Ala134Val) | gnomAD v4 |
2 | g.219418864G>A | CA65981216 | DES | c.402G>A (p.Ala134=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418864G>C | CA431427658 | DES | c.402G>C (p.Ala134=) | |
2 | g.219418864G= | CA1329210046 | DES | c.402G= (p.Ala134=) | |
2 | g.219418864G>T | CA431427659 | DES | c.402G>T (p.Ala134=) | gnomAD v4 |
2 | g.219418865G>A | CA350685912 | DES | c.403G>A (p.Ala135Thr) | gnomAD v4 |
2 | g.219418865G>C | CA350685913 | DES | c.403G>C (p.Ala135Pro) | |
2 | g.219418865G>T | CA350685914 | DES | c.403G>T (p.Ala135Ser) | |
2 | g.219418866C>A | CA350685918 | DES | c.404C>A (p.Ala135Glu) | dbSNP gnomAD v4 |
2 | g.219418866C= | CA1329210047 | DES | c.404C= (p.Ala135=) | |
2 | g.219418866C>G | CA350685921 | DES | c.404C>G (p.Ala135Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418866C>T | CA2125063 | DES | c.404C>T (p.Ala135Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418867G>A | CA431427672 | DES | c.405G>A (p.Ala135=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418867G>C | CA431427674 | DES | c.405G>C (p.Ala135=) | gnomAD v4 |
2 | g.219418867G= | CA1329210048 | DES | c.405G= (p.Ala135=) | |
2 | g.219418867G>T | CA431427676 | DES | c.405G>T (p.Ala135=) | dbSNP gnomAD v4 |
2 | g.219418868C>A | CA350685935 | DES | c.406C>A (p.Leu136Ile) | gnomAD v4 |
2 | g.219418868C= | CA1329210049 | DES | c.406C= (p.Leu136=) | |
2 | g.219418868C>G | CA350685931 | DES | c.406C>G (p.Leu136Val) | ClinVar dbSNP gnomAD v4 |
2 | g.219418868C>T | CA350685928 | DES | c.406C>T (p.Leu136Phe) | dbSNP gnomAD v2 |
2 | g.219418869T>A | CA133850 | DES | c.407T>A (p.Leu136His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418869T>C | CA350685955 | DES | c.407T>C (p.Leu136Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.219418869T>G | CA350685940 | DES | c.407T>G (p.Leu136Arg) | |
2 | g.219418869T= | CA1329210050 | DES | c.407T= (p.Leu136=) | |
2 | g.219418870C>A | CA431427685 | DES | c.408C>A (p.Leu136=) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.219418870C= | CA1329210051 | DES | c.408C= (p.Leu136=) | |
2 | g.219418870C>G | CA431427686 | DES | c.408C>G (p.Leu136=) | |
2 | g.219418870C>T | CA133853 | DES | c.408C>T (p.Leu136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418871G>A | CA350685966 | DES | c.409G>A (p.Ala137Thr) | ClinVar |
2 | g.219418871G>C | CA350685969 | DES | c.409G>C (p.Ala137Pro) | gnomAD v4 COSMIC |
2 | g.219418871G>T | CA350685972 | DES | c.409G>T (p.Ala137Ser) | gnomAD v4 |
2 | g.219418872C>A | CA10581947 | DES | c.410C>A (p.Ala137Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418872C= | CA1329210052 | DES | c.410C= (p.Ala137=) | |
2 | g.219418872C>G | CA350685980 | DES | c.410C>G (p.Ala137Gly) | gnomAD v4 |
2 | g.219418872C>T | CA2125064 | DES | c.410C>T (p.Ala137Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418873C>A | CA431427706 | DES | c.411C>A (p.Ala137=) | gnomAD v4 |
2 | g.219418873C= | CA1329210053 | DES | c.411C= (p.Ala137=) | |
2 | g.219418873C>G | CA2125065 | DES | c.411C>G (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418873C>T | CA431427703 | DES | c.411C>T (p.Ala137=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.219418874G>A | CA350685989 | DES | c.412G>A (p.Ala138Thr) | dbSNP gnomAD v4 |
2 | g.219418874G>C | CA350685992 | DES | c.412G>C (p.Ala138Pro) | |
2 | g.219418874G= | CA1329210054 | DES | c.412G= (p.Ala138=) | |
2 | g.219418874G>T | CA350685995 | DES | c.412G>T (p.Ala138Ser) | gnomAD v4 |
2 | g.219418875C>A | CA350685997 | DES | c.413C>A (p.Ala138Asp) | |
2 | g.219418875C>G | CA350685998 | DES | c.413C>G (p.Ala138Gly) | |
2 | g.219418875C>T | CA350685999 | DES | c.413C>T (p.Ala138Val) | |
2 | g.219418876C>A | CA431427715 | DES | c.414C>A (p.Ala138=) | gnomAD v4 |
2 | g.219418876C= | CA1329210055 | DES | c.414C= (p.Ala138=) | |
2 | g.219418876C>G | CA431427711 | DES | c.414C>G (p.Ala138=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418876C>T | CA431427709 | DES | c.414C>T (p.Ala138=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418877G>A | CA16610612 | DES | c.415G>A (p.Glu139Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.219418877G>C | CA2125066 | DES | c.415G>C (p.Glu139Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418877G= | CA1329210056 | DES | c.415G= (p.Glu139=) | |
2 | g.219418877G>T | CA350686002 | DES | c.415G>T (p.Glu139Ter) | |
2 | g.219418878A>C | CA350686009 | DES | c.416A>C (p.Glu139Ala) | |
2 | g.219418878A>G | CA350686012 | DES | c.416A>G (p.Glu139Gly) | |
2 | g.219418878A>T | CA350686015 | DES | c.416A>T (p.Glu139Val) | gnomAD v4 |
2 | g.219418879A= | CA1329210057 | DES | c.417A= (p.Glu139=) | |
2 | g.219418879A>C | CA350686018 | DES | c.417A>C (p.Glu139Asp) | |
2 | g.219418879A>G | CA431427720 | DES | c.417A>G (p.Glu139=) | dbSNP gnomAD v4 |
2 | g.219418879A>T | CA350686021 | DES | c.417A>T (p.Glu139Asp) | |
2 | g.219418880G>A | CA350686024 | DES | c.418G>A (p.Val140Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418880G>C | CA350686027 | DES | c.418G>C (p.Val140Leu) | ClinVar dbSNP |
2 | g.219418880G= | CA1329210058 | DES | c.418G= (p.Val140=) | |
2 | g.219418880G>T | CA350686030 | DES | c.418G>T (p.Val140Leu) | |
2 | g.219418881T>A | CA350686032 | DES | c.419T>A (p.Val140Glu) | |
2 | g.219418881T>C | CA350686034 | DES | c.419T>C (p.Val140Ala) | gnomAD v4 |
2 | g.219418881T>G | CA350686037 | DES | c.419T>G (p.Val140Gly) | |
2 | g.219418882G>A | CA431427727 | DES | c.420G>A (p.Val140=) | |
2 | g.219418882G>C | CA431427728 | DES | c.420G>C (p.Val140=) | dbSNP |
2 | g.219418882G= | CA1329210059 | DES | c.420G= (p.Val140=) | |
2 | g.219418882G>T | CA431427729 | DES | c.420G>T (p.Val140=) | gnomAD v4 |
2 | g.219418883A>C | CA350686039 | DES | c.421A>C (p.Asn141His) | |
2 | g.219418883A>G | CA350686045 | DES | c.421A>G (p.Asn141Asp) | |
2 | g.219418883A>T | CA350686041 | DES | c.421A>T (p.Asn141Tyr) | |
2 | g.219418884A>C | CA350686048 | DES | c.422A>C (p.Asn141Thr) | |
2 | g.219418884A>G | CA350686050 | DES | c.422A>G (p.Asn141Ser) | |
2 | g.219418884A>T | CA350686053 | DES | c.422A>T (p.Asn141Ile) | |
2 | g.219418885C>A | CA350686055 | DES | c.423C>A (p.Asn141Lys) | gnomAD v4 |
2 | g.219418885C= | CA1329210060 | DES | c.423C= (p.Asn141=) | |
2 | g.219418885C>G | CA350686059 | DES | c.423C>G (p.Asn141Lys) | dbSNP |
2 | g.219418885C>T | CA431427741 | DES | c.423C>T (p.Asn141=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418886C>A | CA431427744 | DES | c.424C>A (p.Arg142=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418886C= | CA1329210061 | DES | c.424C= (p.Arg142=) | |
2 | g.219418886C>G | CA350686062 | DES | c.424C>G (p.Arg142Gly) | gnomAD v4 |
2 | g.219418886C>T | CA350686066 | DES | c.424C>T (p.Arg142Trp) | gnomAD v4 |
2 | g.219418887G>A | CA350686069 | DES | c.425G>A (p.Arg142Gln) | dbSNP gnomAD v4 |
2 | g.219418887G>C | CA350686075 | DES | c.425G>C (p.Arg142Pro) | ClinVar |
2 | g.219418887G= | CA1329210062 | DES | c.425G= (p.Arg142=) | |
2 | g.219418887G>T | CA350686077 | DES | c.425G>T (p.Arg142Leu) | gnomAD v4 |
2 | g.219418888dup | CA2838288701 | DES | c.426dup (p.Leu143AlafsTer29) c.426dup (p.Leu143AlafsTer?) | |
2 | g.219418888G>A | CA431427756 | DES | c.426G>A (p.Arg142=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418888G>C | CA431427757 | DES | c.426G>C (p.Arg142=) | |
2 | g.219418888G= | CA1329210063 | DES | c.426G= (p.Arg142=) | |
2 | g.219418888G>T | CA431427758 | DES | c.426G>T (p.Arg142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418889C>A | CA350686085 | DES | c.427C>A (p.Leu143Ile) | gnomAD v4 |
2 | g.219418889C= | CA1329210064 | DES | c.427C= (p.Leu143=) | |
2 | g.219418889C>G | CA350686082 | DES | c.427C>G (p.Leu143Val) | ClinVar dbSNP |
2 | g.219418889C>T | CA350686080 | DES | c.427C>T (p.Leu143Phe) | gnomAD v4 |
2 | g.219418890T>A | CA350686087 | DES | c.428T>A (p.Leu143His) | |
2 | g.219418890T>C | CA350686089 | DES | c.428T>C (p.Leu143Pro) | ClinVar dbSNP |
2 | g.219418890T>G | CA350686092 | DES | c.428T>G (p.Leu143Arg) | ClinVar |
2 | g.219418890T= | CA1329210065 | DES | c.428T= (p.Leu143=) | |
2 | g.219418891C>A | CA431427762 | DES | c.429C>A (p.Leu143=) | |
2 | g.219418891C= | CA1329210066 | DES | c.429C= (p.Leu143=) | |
2 | g.219418891C>G | CA431427763 | DES | c.429C>G (p.Leu143=) | |
2 | g.219418891C>T | CA65981248 | DES | c.429C>T (p.Leu143=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418892A= | CA1329210067 | DES | c.430A= (p.Lys144=) | |
2 | g.219418892A>C | CA350686101 | DES | c.430A>C (p.Lys144Gln) | |
2 | g.219418892A>G | CA350686106 | DES | c.430A>G (p.Lys144Glu) | gnomAD v4 |
2 | g.219418892A>T | CA350686110 | DES | c.430A>T (p.Lys144Ter) | dbSNP |
2 | g.219418893A>C | CA350686114 | DES | c.431A>C (p.Lys144Thr) | |
2 | g.219418893A>G | CA350686117 | DES | c.431A>G (p.Lys144Arg) | gnomAD v4 |
2 | g.219418893A>T | CA350686122 | DES | c.431A>T (p.Lys144Met) | |
2 | g.219418895_219418913del | CA2754326441 | DES | c.433_451del (p.Gly145TrpfsTer?) | |
2 | g.219418894G>A | CA431427769 | DES | c.432G>A (p.Lys144=) | gnomAD v4 |
2 | g.219418894G>C | CA350686144 | DES | c.432G>C (p.Lys144Asn) | |
2 | g.219418894G>T | CA350686147 | DES | c.432G>T (p.Lys144Asn) | gnomAD v4 |
2 | g.219418896dup | CA2663250194 | DES | c.434dup (p.Arg146ProfsTer26) c.434dup (p.Arg146ProfsTer?) | gnomAD v4 |
2 | g.219418895G>A | CA350686158 | DES | c.433G>A (p.Gly145Ser) | |
2 | g.219418895G>C | CA350686160 | DES | c.433G>C (p.Gly145Arg) | |
2 | g.219418895G>T | CA350686153 | DES | c.433G>T (p.Gly145Cys) | |
2 | g.219418896G>A | CA350686173 | DES | c.434G>A (p.Gly145Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.219418896G>C | CA350686166 | DES | c.434G>C (p.Gly145Ala) | dbSNP |
2 | g.219418896G= | CA1329210068 | DES | c.434G= (p.Gly145=) | |
2 | g.219418896G>T | CA350686169 | DES | c.434G>T (p.Gly145Val) | |
2 | g.219418897C>A | CA431427776 | DES | c.435C>A (p.Gly145=) | ClinVar |
2 | g.219418897C= | CA1329210069 | DES | c.435C= (p.Gly145=) | |
2 | g.219418897C>G | CA431427777 | DES | c.435C>G (p.Gly145=) | |
2 | g.219418897C>T | CA431427778 | DES | c.435C>T (p.Gly145=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418898C>A | CA350686178 | DES | c.436C>A (p.Arg146Ser) | gnomAD v4 |
2 | g.219418898C>G | CA350686181 | DES | c.436C>G (p.Arg146Gly) | ClinVar gnomAD v4 |
2 | g.219418898C>T | CA350686195 | DES | c.436C>T (p.Arg146Cys) | dbSNP gnomAD v4 COSMIC |
2 | g.219418898_219418899insACTC | CA2843661245 | DES | c.436_437insACTC (p.Arg146HisfsTer27) c.436_437insACTC (p.Arg146HisfsTer?) | |
2 | g.219418898_219418900delinsTGG | CA2586971378 | DES | c.436_438delinsTGG (p.Arg146Trp) | |
2 | g.219418899G>A | CA350686197 | DES | c.437G>A (p.Arg146His) | gnomAD v4 |
2 | g.219418899G>C | CA350686198 | DES | c.437G>C (p.Arg146Pro) | |
2 | g.219418899G>T | CA350686200 | DES | c.437G>T (p.Arg146Leu) | gnomAD v4 |
2 | g.219418900C>A | CA431427788 | DES | c.438C>A (p.Arg146=) | gnomAD v4 |
2 | g.219418900C= | CA1329210070 | DES | c.438C= (p.Arg146=) | |
2 | g.219418900C>G | CA2125067 | DES | c.438C>G (p.Arg146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418900C>T | CA2125068 | DES | c.438C>T (p.Arg146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418901G>A | CA350686210 | DES | c.439G>A (p.Glu147Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418901G>C | CA350686214 | DES | c.439G>C (p.Glu147Gln) | ClinVar gnomAD v4 |
2 | g.219418901G= | CA1329210071 | DES | c.439G= (p.Glu147=) | |
2 | g.219418901G>T | CA350686216 | DES | c.439G>T (p.Glu147Ter) | gnomAD v4 |
2 | g.219418901_219418902insTCGGCTCGCGGCCCTTG | CA2838288696 | DES | c.439_440insTCGGCTCGCGGCCCTTG (p.Glu147ValfsTer?) | |
2 | g.219418902A>C | CA350686226 | DES | c.440A>C (p.Glu147Ala) | |
2 | g.219418902A>G | CA350686220 | DES | c.440A>G (p.Glu147Gly) | |
2 | g.219418902A>T | CA350686223 | DES | c.440A>T (p.Glu147Val) | |
2 | g.219418903G>A | CA431427794 | DES | c.441G>A (p.Glu147=) | dbSNP gnomAD v4 |
2 | g.219418903G>C | CA350686229 | DES | c.441G>C (p.Glu147Asp) | |
2 | g.219418903G= | CA1329210072 | DES | c.441G= (p.Glu147=) | |
2 | g.219418903G>T | CA350686231 | DES | c.441G>T (p.Glu147Asp) | |
2 | g.219418904C>A | CA350686235 | DES | c.442C>A (p.Pro148Thr) | gnomAD v4 |
2 | g.219418904C>G | CA350686238 | DES | c.442C>G (p.Pro148Ala) | |
2 | g.219418904C>T | CA350686241 | DES | c.442C>T (p.Pro148Ser) | gnomAD v4 |
2 | g.219418905C>A | CA350686246 | DES | c.443C>A (p.Pro148Gln) | gnomAD v4 |
2 | g.219418905C= | CA1329210073 | DES | c.443C= (p.Pro148=) | |
2 | g.219418905C>G | CA350686250 | DES | c.443C>G (p.Pro148Arg) | |
2 | g.219418905C>T | CA65981255 | DES | c.443C>T (p.Pro148Leu) | dbSNP gnomAD v4 |
2 | g.219418906G>A | CA431427798 | DES | c.444G>A (p.Pro148=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418906G>C | CA2125069 | DES | c.444G>C (p.Pro148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418906G= | CA1329210074 | DES | c.444G= (p.Pro148=) | |
2 | g.219418906G>T | CA431427800 | DES | c.444G>T (p.Pro148=) | dbSNP gnomAD v4 |
2 | g.219418907A= | CA1329210075 | DES | c.445A= (p.Thr149=) | |
2 | g.219418907A>C | CA350686261 | DES | c.445A>C (p.Thr149Pro) | |
2 | g.219418907A>G | CA350686265 | DES | c.445A>G (p.Thr149Ala) | |
2 | g.219418907A>T | CA350686269 | DES | c.445A>T (p.Thr149Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418908C>A | CA350686281 | DES | c.446C>A (p.Thr149Lys) | |
2 | g.219418908C= | CA1329210076 | DES | c.446C= (p.Thr149=) | |
2 | g.219418908C>G | CA350686276 | DES | c.446C>G (p.Thr149Arg) | ClinVar gnomAD v4 |
2 | g.219418908C>T | CA350686272 | DES | c.446C>T (p.Thr149Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418909G>A | CA431427807 | DES | c.447G>A (p.Thr149=) | ClinVar gnomAD v4 |
2 | g.219418909G>C | CA431427806 | DES | c.447G>C (p.Thr149=) | ClinVar dbSNP |
2 | g.219418909G= | CA1329210077 | DES | c.447G= (p.Thr149=) | |
2 | g.219418909G>T | CA431427805 | DES | c.447G>T (p.Thr149=) | dbSNP gnomAD v4 |
2 | g.219418910C>A | CA431427808 | DES | c.448C>A (p.Arg150=) | gnomAD v4 |
2 | g.219418910C>G | CA350686287 | DES | c.448C>G (p.Arg150Gly) | |
2 | g.219418910C>T | CA350686291 | DES | c.448C>T (p.Arg150Ter) | |
2 | g.219418914_219418921del | CA2499215677 | DES | c.452_459del (p.Val151AlafsTer18) c.452_459del (p.Val151AlafsTer24) | ClinVar dbSNP |
2 | g.219418911G>A | CA10581142 | DES | c.449G>A (p.Arg150Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.219418911G>C | CA350686296 | DES | c.449G>C (p.Arg150Pro) | gnomAD v4 |
2 | g.219418911G= | CA1329210078 | DES | c.449G= (p.Arg150=) | |
2 | g.219418911G>T | CA350686298 | DES | c.449G>T (p.Arg150Leu) | gnomAD v4 |
2 | g.219418912A= | CA1329210079 | DES | c.450A= (p.Arg150=) | |
2 | g.219418912A>C | CA431427814 | DES | c.450A>C (p.Arg150=) | ClinVar dbSNP |
2 | g.219418912A>G | CA431427817 | DES | c.450A>G (p.Arg150=) | dbSNP |
2 | g.219418912A>T | CA431427815 | DES | c.450A>T (p.Arg150=) | |
2 | g.219418913G>A | CA350686307 | DES | c.451G>A (p.Val151Met) | gnomAD v4 |
2 | g.219418913G>C | CA350686303 | DES | c.451G>C (p.Val151Leu) | |
2 | g.219418913G>T | CA350686300 | DES | c.451G>T (p.Val151Leu) | |
2 | g.219418914T>A | CA350686313 | DES | c.452T>A (p.Val151Glu) | |
2 | g.219418914T>C | CA350686316 | DES | c.452T>C (p.Val151Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418914T>G | CA350686321 | DES | c.452T>G (p.Val151Gly) | |
2 | g.219418914T= | CA1329210080 | DES | c.452T= (p.Val151=) | |
2 | g.219418915G>A | CA431427820 | DES | c.453G>A (p.Val151=) | gnomAD v4 |
2 | g.219418915G>C | CA431427821 | DES | c.453G>C (p.Val151=) | dbSNP |
2 | g.219418915G= | CA1329210081 | DES | c.453G= (p.Val151=) | |
2 | g.219418915G>T | CA431427823 | DES | c.453G>T (p.Val151=) | dbSNP gnomAD v4 |
2 | g.219418916G>A | CA350686326 | DES | c.454G>A (p.Ala152Thr) | |
2 | g.219418916G>C | CA350686330 | DES | c.454G>C (p.Ala152Pro) | |
2 | g.219418916G>T | CA350686334 | DES | c.454G>T (p.Ala152Ser) | |
2 | g.219418917C>A | CA350686338 | DES | c.455C>A (p.Ala152Asp) | |
2 | g.219418917C>G | CA350686348 | DES | c.455C>G (p.Ala152Gly) | |
2 | g.219418917C>T | CA350686345 | DES | c.455C>T (p.Ala152Val) | gnomAD v4 |
2 | g.219418918C>A | CA431427826 | DES | c.456C>A (p.Ala152=) | gnomAD v4 |
2 | g.219418918C= | CA1329210082 | DES | c.456C= (p.Ala152=) | |
2 | g.219418918C>G | CA431427827 | DES | c.456C>G (p.Ala152=) | ClinVar gnomAD v4 |
2 | g.219418918C>T | CA431427828 | DES | c.456C>T (p.Ala152=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418919G>A | CA350686355 | DES | c.457G>A (p.Glu153Lys) | dbSNP gnomAD v4 |
2 | g.219418919G>C | CA350686358 | DES | c.457G>C (p.Glu153Gln) | |
2 | g.219418919G= | CA1329210083 | DES | c.457G= (p.Glu153=) | |
2 | g.219418919G>T | CA350686363 | DES | c.457G>T (p.Glu153Ter) | gnomAD v4 |
2 | g.219418920A>C | CA350686367 | DES | c.458A>C (p.Glu153Ala) | |
2 | g.219418920A>G | CA350686370 | DES | c.458A>G (p.Glu153Gly) | ClinVar gnomAD v4 |
2 | g.219418920A>T | CA350686373 | DES | c.458A>T (p.Glu153Val) | |
2 | g.219418921G>A | CA431427834 | DES | c.459G>A (p.Glu153=) | |
2 | g.219418921G>C | CA350686378 | DES | c.459G>C (p.Glu153Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418921G= | CA1329210084 | DES | c.459G= (p.Glu153=) | |
2 | g.219418921G>T | CA350686382 | DES | c.459G>T (p.Glu153Asp) | gnomAD v4 COSMIC |
2 | g.219418922C>A | CA2125070 | DES | c.460C>A (p.Leu154Ile) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.219418922C= | CA1329210085 | DES | c.460C= (p.Leu154=) | |
2 | g.219418922C>G | CA350686390 | DES | c.460C>G (p.Leu154Val) | |
2 | g.219418922C>T | CA350686394 | DES | c.460C>T (p.Leu154Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418923T>A | CA2125071 | DES | c.461T>A (p.Leu154His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418923T>C | CA350686407 | DES | c.461T>C (p.Leu154Pro) | ClinVar gnomAD v4 |
2 | g.219418923T>G | CA350686402 | DES | c.461T>G (p.Leu154Arg) | |
2 | g.219418923T= | CA1329210086 | DES | c.461T= (p.Leu154=) | |
2 | g.219418924C>A | CA431427841 | DES | c.462C>A (p.Leu154=) | gnomAD v4 |
2 | g.219418924C= | CA1329210087 | DES | c.462C= (p.Leu154=) | |
2 | g.219418924C>G | CA431427842 | DES | c.462C>G (p.Leu154=) | gnomAD v4 |
2 | g.219418924C>T | CA431427843 | DES | c.462C>T (p.Leu154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418925T>A | CA350686415 | DES | c.463T>A (p.Tyr155Asn) | |
2 | g.219418925T>C | CA350686422 | DES | c.463T>C (p.Tyr155His) | |
2 | g.219418925T>G | CA350686418 | DES | c.463T>G (p.Tyr155Asp) | |
2 | g.219418926A>C | CA350686426 | DES | c.464A>C (p.Tyr155Ser) | |
2 | g.219418926A>G | CA350686435 | DES | c.464A>G (p.Tyr155Cys) | |
2 | g.219418926A>T | CA350686429 | DES | c.464A>T (p.Tyr155Phe) | |
2 | g.219418927C>A | CA350686441 | DES | c.465C>A (p.Tyr155Ter) | dbSNP gnomAD v4 |
2 | g.219418927C= | CA1329210088 | DES | c.465C= (p.Tyr155=) | |
2 | g.219418927C>G | CA350686447 | DES | c.465C>G (p.Tyr155Ter) | |
2 | g.219418927C>T | CA431427848 | DES | c.465C>T (p.Tyr155=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418927_219418930delinsCGAG | CA1329210089 | DES | c.465_468delinsCGAG (p.Tyr155=) | |
2 | g.219418928G>A | CA2125072 | DES | c.466G>A (p.Glu156Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418928G>C | CA350686456 | DES | c.466G>C (p.Glu156Gln) | ClinVar dbSNP |
2 | g.219418928G= | CA1329210091 | DES | c.466G= (p.Glu156=) | |
2 | g.219418928G>T | CA350686459 | DES | c.466G>T (p.Glu156Ter) | |
2 | g.219418934_219418936del | CA1329210090 | DES | c.472_474del (p.Glu158del) | ClinVar dbSNP |
2 | g.219418929A>C | CA350686464 | DES | c.467A>C (p.Glu156Ala) | |
2 | g.219418929A>G | CA350686471 | DES | c.467A>G (p.Glu156Gly) | gnomAD v4 |
2 | g.219418929A>T | CA350686474 | DES | c.467A>T (p.Glu156Val) | ClinVar dbSNP |
2 | g.219418930G>A | CA431427851 | DES | c.468G>A (p.Glu156=) | |
2 | g.219418930G>C | CA350686481 | DES | c.468G>C (p.Glu156Asp) | |
2 | g.219418930G>T | CA350686482 | DES | c.468G>T (p.Glu156Asp) | |
2 | g.219418931G>A | CA350686483 | DES | c.469G>A (p.Glu157Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418931G>C | CA350686485 | DES | c.469G>C (p.Glu157Gln) | |
2 | g.219418931G= | CA1329210092 | DES | c.469G= (p.Glu157=) | |
2 | g.219418931G>T | CA350686490 | DES | c.469G>T (p.Glu157Ter) | |
2 | g.219418932A>C | CA350686504 | DES | c.470A>C (p.Glu157Ala) | |
2 | g.219418932A>G | CA350686502 | DES | c.470A>G (p.Glu157Gly) | |
2 | g.219418932A>T | CA350686497 | DES | c.470A>T (p.Glu157Val) | |
2 | g.219418933G>A | CA431427856 | DES | c.471G>A (p.Glu157=) | |
2 | g.219418933G>C | CA350686507 | DES | c.471G>C (p.Glu157Asp) | |
2 | g.219418933G>T | CA350686510 | DES | c.471G>T (p.Glu157Asp) | |
2 | g.219418943_219418951dup | CA2577252530 | DES | c.481_489dup (p.Arg163_Arg164insGluLeuArg) | ClinVar |
2 | g.219418934G>A | CA350686516 | DES | c.472G>A (p.Glu158Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418934G>C | CA350686517 | DES | c.472G>C (p.Glu158Gln) | |
2 | g.219418934G= | CA1329210093 | DES | c.472G= (p.Glu158=) | |
2 | g.219418934G>T | CA350686524 | DES | c.472G>T (p.Glu158Ter) | |
2 | g.219418935A= | CA1329210094 | DES | c.473A= (p.Glu158=) | |
2 | g.219418935A>C | CA350686530 | DES | c.473A>C (p.Glu158Ala) | |
2 | g.219418935A>G | CA350686535 | DES | c.473A>G (p.Glu158Gly) | gnomAD v4 |
2 | g.219418935A>T | CA350686538 | DES | c.473A>T (p.Glu158Val) | ClinVar dbSNP |
2 | g.219418936G>A | CA431427858 | DES | c.474G>A (p.Glu158=) | gnomAD v4 |
2 | g.219418936G>C | CA350686540 | DES | c.474G>C (p.Glu158Asp) | |
2 | g.219418936G>T | CA350686543 | DES | c.474G>T (p.Glu158Asp) | gnomAD v4 |
2 | g.219418937C>A | CA350686545 | DES | c.475C>A (p.Leu159Met) | dbSNP gnomAD v4 |
2 | g.219418937C= | CA1329210095 | DES | c.475C= (p.Leu159=) | |
2 | g.219418937C>G | CA350686549 | DES | c.475C>G (p.Leu159Val) | |
2 | g.219418937C>T | CA431427860 | DES | c.475C>T (p.Leu159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418938T>A | CA350686554 | DES | c.476T>A (p.Leu159Gln) | |
2 | g.219418938T>C | CA350686551 | DES | c.476T>C (p.Leu159Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.219418938T>G | CA350686550 | DES | c.476T>G (p.Leu159Arg) | |
2 | g.219418938T= | CA1329210096 | DES | c.476T= (p.Leu159=) | |
2 | g.219418939G>A | CA431427865 | DES | c.477G>A (p.Leu159=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418939G>C | CA431427866 | DES | c.477G>C (p.Leu159=) | |
2 | g.219418939G= | CA1329210097 | DES | c.477G= (p.Leu159=) | |
2 | g.219418939G>T | CA431427867 | DES | c.477G>T (p.Leu159=) | gnomAD v4 |
2 | g.219418940C>A | CA431427868 | DES | c.478C>A (p.Arg160=) | gnomAD v4 |
2 | g.219418940C= | CA1329210098 | DES | c.478C= (p.Arg160=) | |
2 | g.219418940C>G | CA350686556 | DES | c.478C>G (p.Arg160Gly) | |
2 | g.219418940C>T | CA350686558 | DES | c.478C>T (p.Arg160Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418941G>A | CA350686563 | DES | c.479G>A (p.Arg160Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418941G>C | CA350686566 | DES | c.479G>C (p.Arg160Pro) | gnomAD v4 |
2 | g.219418941G= | CA1329210099 | DES | c.479G= (p.Arg160=) | |
2 | g.219418941G>T | CA350686567 | DES | c.479G>T (p.Arg160Leu) | |
2 | g.219418942G>A | CA431427877 | DES | c.480G>A (p.Arg160=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418942G>C | CA431427875 | DES | c.480G>C (p.Arg160=) | ClinVar dbSNP |
2 | g.219418942G= | CA1329210100 | DES | c.480G= (p.Arg160=) | |
2 | g.219418942G>T | CA431427876 | DES | c.480G>T (p.Arg160=) | gnomAD v4 |
2 | g.219418943G>A | CA350686570 | DES | c.481G>A (p.Glu161Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418943G>C | CA350686571 | DES | c.481G>C (p.Glu161Gln) | |
2 | g.219418943G= | CA1329210101 | DES | c.481G= (p.Glu161=) | |
2 | g.219418943G>T | CA350686573 | DES | c.481G>T (p.Glu161Ter) | gnomAD v4 |
2 | g.219418944A= | CA1329210102 | DES | c.482A= (p.Glu161=) | |
2 | g.219418944A>C | CA350686574 | DES | c.482A>C (p.Glu161Ala) | gnomAD v4 |
2 | g.219418944A>G | CA350686579 | DES | c.482A>G (p.Glu161Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418944A>T | CA350686581 | DES | c.482A>T (p.Glu161Val) | |
2 | g.219418944_219418952dup | CA2580065786 | DES | c.482_490dup (p.Arg163_Arg164insGlnLeuArg) | ClinVar |
2 | g.219418945G>A | CA431427879 | DES | c.483G>A (p.Glu161=) | |
2 | g.219418945G>C | CA350686583 | DES | c.483G>C (p.Glu161Asp) | ClinVar |
2 | g.219418945G>T | CA350686585 | DES | c.483G>T (p.Glu161Asp) | gnomAD v4 |
2 | g.219418946C>A | CA350686589 | DES | c.484C>A (p.Leu162Met) | gnomAD v4 |
2 | g.219418946C= | CA1329210103 | DES | c.484C= (p.Leu162=) | |
2 | g.219418946C>G | CA350686591 | DES | c.484C>G (p.Leu162Val) | |
2 | g.219418946C>T | CA431427883 | DES | c.484C>T (p.Leu162=) | gnomAD v4 |
2 | g.219418947T>A | CA350686594 | DES | c.485T>A (p.Leu162Gln) | |
2 | g.219418947T>C | CA350686595 | DES | c.485T>C (p.Leu162Pro) | gnomAD v4 |
2 | g.219418947T>G | CA350686598 | DES | c.485T>G (p.Leu162Arg) | dbSNP |
2 | g.219418947T= | CA1329210104 | DES | c.485T= (p.Leu162=) | |
2 | g.219418950_219418967dup | CA916081390 | DES | c.488_505dup (p.Val168_Leu169insArgArgGlnValGluVal) c.488_495+10dup | ClinVar dbSNP |