Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27085159G>ACA346155975EMILIN1c.2576-1G>A (n.2576-1G>A)
c.568-1G>A
c.2575+151G>A (n.2575+151G>A)
2g.27085159G>CCA346155977EMILIN1c.2576-1G>C (n.2576-1G>C)
c.568-1G>C
c.2575+151G>C (n.2575+151G>C)
2g.27085159G>TCA346155979EMILIN1c.2576-1G>T (n.2576-1G>T)
c.568-1G>T
c.2575+151G>T (n.2575+151G>T)
2g.27085160G>ACA1568982EMILIN1c.2576G>A (p.Gly859Glu)
c.568G>A
c.2575+152G>A (n.2575+152G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085160G>CCA346155982EMILIN1c.2576G>C (p.Gly859Ala)
c.568G>C
c.2575+152G>C (n.2575+152G>C)
2g.27085160G=CA1240109659EMILIN1c.2576G= (p.Gly859=)
c.568G=
c.2575+152G= (n.2575+152G=)
2g.27085160G>TCA346155984EMILIN1c.2576G>T (p.Gly859Val)
c.568G>T
c.2575+152G>T (n.2575+152G>T)
2g.27085161A>CCA425382065EMILIN1c.2577A>C (p.Gly859=)
c.569A>C
c.2575+153A>C (n.2575+153A>C)
2g.27085161A>GCA425382066EMILIN1c.2577A>G (p.Gly859=)
c.569A>G
c.2575+153A>G (n.2575+153A>G)
2g.27085161A>TCA425382067EMILIN1c.2577A>T (p.Gly859=)
c.569A>T
c.2575+153A>T (n.2575+153A>T)
2g.27085162G>ACA346155986EMILIN1c.2578G>A (p.Val860Met)
c.570G>A
c.2575+154G>A (n.2575+154G>A)
 dbSNP gnomAD v4
2g.27085162G>CCA1568983EMILIN1c.2578G>C (p.Val860Leu)
c.570G>C
c.2575+154G>C (n.2575+154G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085162G=CA1240109660EMILIN1c.2578G= (p.Val860=)
c.570G=
c.2575+154G= (n.2575+154G=)
2g.27085162G>TCA346155989EMILIN1c.2578G>T (p.Val860Leu)
c.570G>T
c.2575+154G>T (n.2575+154G>T)
2g.27085163T>ACA346155991EMILIN1c.2579T>A (p.Val860Glu)
c.571T>A
c.2575+155T>A (n.2575+155T>A)
2g.27085163T>CCA346155995EMILIN1c.2579T>C (p.Val860Ala)
c.571T>C
c.2575+155T>C (n.2575+155T>C)
2g.27085163T>GCA346155993EMILIN1c.2579T>G (p.Val860Gly)
c.571T>G
c.2575+155T>G (n.2575+155T>G)
2g.27085164G>ACA425382071EMILIN1c.2580G>A (p.Val860=)
c.572G>A
c.2575+156G>A (n.2575+156G>A)
2g.27085164G>CCA425382074EMILIN1c.2580G>C (p.Val860=)
c.572G>C
c.2575+156G>C (n.2575+156G>C)
2g.27085164G>TCA425382073EMILIN1c.2580G>T (p.Val860=)
c.572G>T
c.2575+156G>T (n.2575+156G>T)
2g.27085165G>ACA346155997EMILIN1c.2581G>A (p.Glu861Lys)
c.573G>A
c.2575+157G>A (n.2575+157G>A)
2g.27085165G>CCA346155998EMILIN1c.2581G>C (p.Glu861Gln)
c.573G>C
c.2575+157G>C (n.2575+157G>C)
2g.27085165G>TCA346156000EMILIN1c.2581G>T (p.Glu861Ter)
c.573G>T
c.2575+157G>T (n.2575+157G>T)
 gnomAD v4
2g.27085166delCA2658283555EMILIN1c.2582del (p.Glu861GlyfsTer17)
c.574del
c.2575+158del (n.2575+158del)
 gnomAD v4
2g.27085166A>CCA346156003EMILIN1c.2582A>C (p.Glu861Ala)
c.574A>C
c.2575+158A>C (n.2575+158A>C)
2g.27085166A>GCA346156004EMILIN1c.2582A>G (p.Glu861Gly)
c.574A>G
c.2575+158A>G (n.2575+158A>G)
2g.27085166A>TCA346156006EMILIN1c.2582A>T (p.Glu861Val)
c.574A>T
c.2575+158A>T (n.2575+158A>T)
2g.27085167G>ACA425382075EMILIN1c.2583G>A (p.Glu861=)
c.575G>A
c.2575+159G>A (n.2575+159G>A)
 dbSNP gnomAD v4
2g.27085167G>CCA346156008EMILIN1c.2583G>C (p.Glu861Asp)
c.575G>C
c.2575+159G>C (n.2575+159G>C)
2g.27085167G=CA1240109661EMILIN1c.2583G= (p.Glu861=)
c.575G=
c.2575+159G= (n.2575+159G=)
2g.27085167G>TCA346156010EMILIN1c.2583G>T (p.Glu861Asp)
c.575G>T
c.2575+159G>T (n.2575+159G>T)
2g.27085171dupCA2749254987EMILIN1c.2587dup (p.Ala863GlyfsTer21)
c.579dup
c.2575+163dup (n.2575+163dup)
2g.27085168G>ACA346156012EMILIN1c.2584G>A (p.Gly862Arg)
c.576G>A
c.2575+160G>A (n.2575+160G>A)
 gnomAD v4
2g.27085168G>CCA346156013EMILIN1c.2584G>C (p.Gly862Arg)
c.576G>C
c.2575+160G>C (n.2575+160G>C)
2g.27085168G>TCA346156015EMILIN1c.2584G>T (p.Gly862Trp)
c.576G>T
c.2575+160G>T (n.2575+160G>T)
2g.27085169G>ACA346156019EMILIN1c.2585G>A (p.Gly862Glu)
c.577G>A
c.2575+161G>A (n.2575+161G>A)
2g.27085169G>CCA346156018EMILIN1c.2585G>C (p.Gly862Ala)
c.577G>C
c.2575+161G>C (n.2575+161G>C)
2g.27085169G=CA1240109662EMILIN1c.2585G= (p.Gly862=)
c.577G=
c.2575+161G= (n.2575+161G=)
2g.27085169G>TCA346156016EMILIN1c.2585G>T (p.Gly862Val)
c.577G>T
c.2575+161G>T (n.2575+161G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.27085170G>ACA425382080EMILIN1c.2586G>A (p.Gly862=)
c.578G>A
c.2575+162G>A (n.2575+162G>A)
2g.27085170G>CCA425382081EMILIN1c.2586G>C (p.Gly862=)
c.578G>C
c.2575+162G>C (n.2575+162G>C)
2g.27085170G>TCA425382082EMILIN1c.2586G>T (p.Gly862=)
c.578G>T
c.2575+162G>T (n.2575+162G>T)
2g.27085171G>ACA346156022EMILIN1c.2587G>A (p.Ala863Thr)
c.579G>A
c.2575+163G>A (n.2575+163G>A)
 dbSNP
2g.27085171G>CCA346156020EMILIN1c.2587G>C (p.Ala863Pro)
c.579G>C
c.2575+163G>C (n.2575+163G>C)
2g.27085171G=CA1240109663EMILIN1c.2587G= (p.Ala863=)
c.579G=
c.2575+163G= (n.2575+163G=)
2g.27085171G>TCA346156021EMILIN1c.2587G>T (p.Ala863Ser)
c.579G>T
c.2575+163G>T (n.2575+163G>T)
2g.27085172C>ACA346156024EMILIN1c.2588C>A (p.Ala863Glu)
c.580C>A
c.2575+164C>A (n.2575+164C>A)
2g.27085172C=CA1240109664EMILIN1c.2588C= (p.Ala863=)
c.580C=
c.2575+164C= (n.2575+164C=)
2g.27085172C>GCA346156026EMILIN1c.2588C>G (p.Ala863Gly)
c.580C>G
c.2575+164C>G (n.2575+164C>G)
2g.27085172C>TCA1568984EMILIN1c.2588C>T (p.Ala863Val)
c.580C>T
c.2575+164C>T (n.2575+164C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085173A=CA1240109665EMILIN1c.2589A= (p.Ala863=)
c.581A=
c.2575+165A= (n.2575+165A=)
2g.27085173A>CCA425382087EMILIN1c.2589A>C (p.Ala863=)
c.581A>C
c.2575+165A>C (n.2575+165A>C)
 dbSNP
2g.27085173A>GCA425382085EMILIN1c.2589A>G (p.Ala863=)
c.581A>G
c.2575+165A>G (n.2575+165A>G)
2g.27085173A>TCA425382086EMILIN1c.2589A>T (p.Ala863=)
c.581A>T
c.2575+165A>T (n.2575+165A>T)
2g.27085174C>ACA346156032EMILIN1c.2590C>A (p.Pro864Thr)
c.582C>A
c.2575+166C>A (n.2575+166C>A)
2g.27085174C>GCA346156030EMILIN1c.2590C>G (p.Pro864Ala)
c.582C>G
c.2575+166C>G (n.2575+166C>G)
2g.27085174C>TCA346156029EMILIN1c.2590C>T (p.Pro864Ser)
c.582C>T
c.2575+166C>T (n.2575+166C>T)
 gnomAD v4
2g.27085175C>ACA346156034EMILIN1c.2591C>A (p.Pro864Gln)
c.583C>A
c.2575+167C>A (n.2575+167C>A)
2g.27085175C>GCA346156036EMILIN1c.2591C>G (p.Pro864Arg)
c.583C>G
c.2575+167C>G (n.2575+167C>G)
2g.27085175C>TCA346156037EMILIN1c.2591C>T (p.Pro864Leu)
c.583C>T
c.2575+167C>T (n.2575+167C>T)
2g.27085176A>CCA425382090EMILIN1c.2592A>C (p.Pro864=)
c.584A>C
c.2575+168A>C (n.2575+168A>C)
2g.27085176A>GCA425382091EMILIN1c.2592A>G (p.Pro864=)
c.584A>G
c.2575+168A>G (n.2575+168A>G)
2g.27085176A>TCA425382092EMILIN1c.2592A>T (p.Pro864=)
c.584A>T
c.2575+168A>T (n.2575+168A>T)
2g.27085177G>ACA1568985EMILIN1c.2593G>A (p.Ala865Thr)
c.585G>A
c.2575+169G>A (n.2575+169G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085177G>CCA346156040EMILIN1c.2593G>C (p.Ala865Pro)
c.585G>C
c.2575+169G>C (n.2575+169G>C)
2g.27085177G=CA1240109666EMILIN1c.2593G= (p.Ala865=)
c.585G=
c.2575+169G= (n.2575+169G=)
2g.27085177G>TCA346156042EMILIN1c.2593G>T (p.Ala865Ser)
c.585G>T
c.2575+169G>T (n.2575+169G>T)
2g.27085178C>ACA346156043EMILIN1c.2594C>A (p.Ala865Glu)
c.586C>A
c.2575+170C>A (n.2575+170C>A)
2g.27085178C>GCA346156046EMILIN1c.2594C>G (p.Ala865Gly)
c.586C>G
c.2575+170C>G (n.2575+170C>G)
2g.27085178C>TCA346156044EMILIN1c.2594C>T (p.Ala865Val)
c.586C>T
c.2575+170C>T (n.2575+170C>T)
2g.27085179A>CCA425382094EMILIN1c.2595A>C (p.Ala865=)
c.587A>C
c.2575+171A>C (n.2575+171A>C)
2g.27085179A>GCA425382095EMILIN1c.2595A>G (p.Ala865=)
c.587A>G
c.2575+171A>G (n.2575+171A>G)
2g.27085179A>TCA425382096EMILIN1c.2595A>T (p.Ala865=)
c.587A>T
c.2575+171A>T (n.2575+171A>T)
2g.27085180G>ACA346156048EMILIN1c.2596G>A (p.Ala866Thr)
c.588G>A
c.2575+172G>A (n.2575+172G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.27085180G>CCA346156049EMILIN1c.2596G>C (p.Ala866Pro)
c.588G>C
c.2575+172G>C (n.2575+172G>C)
2g.27085180G=CA1240109667EMILIN1c.2596G= (p.Ala866=)
c.588G=
c.2575+172G= (n.2575+172G=)
2g.27085180G>TCA346156051EMILIN1c.2596G>T (p.Ala866Ser)
c.588G>T
c.2575+172G>T (n.2575+172G>T)
2g.27085185_27085192delCA2658283573EMILIN1c.2601_2608del (p.Val868SerfsTer13)
c.593_600del
c.2575+177_2575+184del (n.2575+177_2575+184del)
 gnomAD v4
2g.27085181C>ACA346156053EMILIN1c.2597C>A (p.Ala866Asp)
c.589C>A
c.2575+173C>A (n.2575+173C>A)
2g.27085181C=CA1240109668EMILIN1c.2597C= (p.Ala866=)
c.589C=
c.2575+173C= (n.2575+173C=)
2g.27085181C>GCA346156054EMILIN1c.2597C>G (p.Ala866Gly)
c.589C>G
c.2575+173C>G (n.2575+173C>G)
 dbSNP
2g.27085181C>TCA346156055EMILIN1c.2597C>T (p.Ala866Val)
c.589C>T
c.2575+173C>T (n.2575+173C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085182C>ACA425382098EMILIN1c.2598C>A (p.Ala866=)
c.590C>A
c.2575+174C>A (n.2575+174C>A)
2g.27085182C>GCA425382099EMILIN1c.2598C>G (p.Ala866=)
c.590C>G
c.2575+174C>G (n.2575+174C>G)
2g.27085182C>TCA425382101EMILIN1c.2598C>T (p.Ala866=)
c.590C>T
c.2575+174C>T (n.2575+174C>T)
2g.27085183C>ACA346156056EMILIN1c.2599C>A (p.Pro867Thr)
c.591C>A
c.2575+175C>A (n.2575+175C>A)
2g.27085183C>GCA346156058EMILIN1c.2599C>G (p.Pro867Ala)
c.591C>G
c.2575+175C>G (n.2575+175C>G)
2g.27085183C>TCA346156060EMILIN1c.2599C>T (p.Pro867Ser)
c.591C>T
c.2575+175C>T (n.2575+175C>T)
 gnomAD v4
2g.27085184C>ACA346156062EMILIN1c.2600C>A (p.Pro867His)
c.592C>A
c.2575+176C>A (n.2575+176C>A)
2g.27085184C>GCA346156063EMILIN1c.2600C>G (p.Pro867Arg)
c.592C>G
c.2575+176C>G (n.2575+176C>G)
2g.27085184C>TCA346156064EMILIN1c.2600C>T (p.Pro867Leu)
c.592C>T
c.2575+176C>T (n.2575+176C>T)
2g.27085185T>ACA425382105EMILIN1c.2601T>A (p.Pro867=)
c.593T>A
c.2575+177T>A (n.2575+177T>A)
 gnomAD v4
2g.27085185T>CCA425382106EMILIN1c.2601T>C (p.Pro867=)
c.593T>C
c.2575+177T>C (n.2575+177T>C)
2g.27085185T>GCA425382107EMILIN1c.2601T>G (p.Pro867=)
c.593T>G
c.2575+177T>G (n.2575+177T>G)
 gnomAD v4
2g.27085186G>ACA346156066EMILIN1c.2602G>A (p.Val868Met)
c.594G>A
c.2575+178G>A (n.2575+178G>A)
 gnomAD v4
2g.27085186G>CCA346156067EMILIN1c.2602G>C (p.Val868Leu)
c.594G>C
c.2575+178G>C (n.2575+178G>C)
2g.27085186G>TCA346156065EMILIN1c.2602G>T (p.Val868Leu)
c.594G>T
c.2575+178G>T (n.2575+178G>T)
2g.27085187T>ACA1568986EMILIN1c.2603T>A (p.Val868Glu)
c.595T>A
c.2575+179T>A (n.2575+179T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085187T>CCA346156068EMILIN1c.2603T>C (p.Val868Ala)
c.595T>C
c.2575+179T>C (n.2575+179T>C)
2g.27085187T>GCA346156069EMILIN1c.2603T>G (p.Val868Gly)
c.595T>G
c.2575+179T>G (n.2575+179T>G)
2g.27085187T=CA1240109669EMILIN1c.2603T= (p.Val868=)
c.595T=
c.2575+179T= (n.2575+179T=)
2g.27085188G>ACA425382171EMILIN1c.2604G>A (p.Val868=)
c.596G>A
c.2575+180G>A (n.2575+180G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.27085188G>CCA425382172EMILIN1c.2604G>C (p.Val868=)
c.596G>C
c.2575+180G>C (n.2575+180G>C)
 gnomAD v4
2g.27085188G=CA1240109670EMILIN1c.2604G= (p.Val868=)
c.596G=
c.2575+180G= (n.2575+180G=)
2g.27085188G>TCA425382173EMILIN1c.2604G>T (p.Val868=)
c.596G>T
c.2575+180G>T (n.2575+180G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.27085189C>ACA346156070EMILIN1c.2605C>A (p.Pro869Thr)
c.597C>A
c.2575+181C>A (n.2575+181C>A)
2g.27085189C>GCA346156071EMILIN1c.2605C>G (p.Pro869Ala)
c.597C>G
c.2575+181C>G (n.2575+181C>G)
2g.27085189C>TCA346156072EMILIN1c.2605C>T (p.Pro869Ser)
c.597C>T
c.2575+181C>T (n.2575+181C>T)
2g.27085190C>ACA346156075EMILIN1c.2606C>A (p.Pro869His)
c.598C>A
c.2575+182C>A (n.2575+182C>A)
2g.27085190C>GCA346156074EMILIN1c.2606C>G (p.Pro869Arg)
c.598C>G
c.2575+182C>G (n.2575+182C>G)
2g.27085190C>TCA346156073EMILIN1c.2606C>T (p.Pro869Leu)
c.598C>T
c.2575+182C>T (n.2575+182C>T)
2g.27085191C>ACA425382174EMILIN1c.2607C>A (p.Pro869=)
c.599C>A
c.2575+183C>A (n.2575+183C>A)
2g.27085191C=CA1240109671EMILIN1c.2607C= (p.Pro869=)
c.599C=
c.2575+183C= (n.2575+183C=)
2g.27085191C>GCA425382175EMILIN1c.2607C>G (p.Pro869=)
c.599C>G
c.2575+183C>G (n.2575+183C>G)
 dbSNP
2g.27085191C>TCA425382176EMILIN1c.2607C>T (p.Pro869=)
c.599C>T
c.2575+183C>T (n.2575+183C>T)
2g.27085192C>ACA346156076EMILIN1c.2608C>A (p.Gln870Lys)
c.600C>A
c.2575+184C>A (n.2575+184C>A)
2g.27085192C>GCA346156077EMILIN1c.2608C>G (p.Gln870Glu)
c.600C>G
c.2575+184C>G (n.2575+184C>G)
2g.27085192C>TCA346156078EMILIN1c.2608C>T (p.Gln870Ter)
c.600C>T
c.2575+184C>T (n.2575+184C>T)
2g.27085193A>CCA346156079EMILIN1c.2609A>C (p.Gln870Pro)
c.601A>C
c.2575+185A>C (n.2575+185A>C)
2g.27085193A>GCA346156080EMILIN1c.2609A>G (p.Gln870Arg)
c.601A>G
c.2575+185A>G (n.2575+185A>G)
 dbSNP
2g.27085193A>TCA346156081EMILIN1c.2609A>T (p.Gln870Leu)
c.601A>T
c.2575+185A>T (n.2575+185A>T)
2g.27085194A=CA1240109672EMILIN1c.2610A= (p.Gln870=)
c.602A=
c.2575+186A= (n.2575+186A=)
2g.27085194A>CCA346156082EMILIN1c.2610A>C (p.Gln870His)
c.602A>C
c.2575+186A>C (n.2575+186A>C)
2g.27085194A>GCA1568987EMILIN1c.2610A>G (p.Gln870=)
c.602A>G
c.2575+186A>G (n.2575+186A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085194A>TCA346156083EMILIN1c.2610A>T (p.Gln870His)
c.602A>T
c.2575+186A>T (n.2575+186A>T)
2g.27085195G>ACA1568988EMILIN1c.2611G>A (p.Val871Met)
c.603G>A
c.2575+187G>A (n.2575+187G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085195G>CCA346156084EMILIN1c.2611G>C (p.Val871Leu)
c.603G>C
c.2575+187G>C (n.2575+187G>C)
2g.27085195G=CA1240109673EMILIN1c.2611G= (p.Val871=)
c.603G=
c.2575+187G= (n.2575+187G=)
2g.27085195G>TCA346156085EMILIN1c.2611G>T (p.Val871Leu)
c.603G>T
c.2575+187G>T (n.2575+187G>T)
2g.27085196T>ACA346156086EMILIN1c.2612T>A (p.Val871Glu)
c.604T>A
c.2575+188T>A (n.2575+188T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.27085196T>CCA346156087EMILIN1c.2612T>C (p.Val871Ala)
c.604T>C
c.2575+188T>C (n.2575+188T>C)
2g.27085196T>GCA346156088EMILIN1c.2612T>G (p.Val871Gly)
c.604T>G
c.2575+188T>G (n.2575+188T>G)
2g.27085196T=CA1240109674EMILIN1c.2612T= (p.Val871=)
c.604T=
c.2575+188T= (n.2575+188T=)
2g.27085197G>ACA425382177EMILIN1c.2613G>A (p.Val871=)
c.605G>A
c.2575+189G>A (n.2575+189G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.27085197G>CCA425382178EMILIN1c.2613G>C (p.Val871=)
c.605G>C
c.2575+189G>C (n.2575+189G>C)
2g.27085197G=CA1240109675EMILIN1c.2613G= (p.Val871=)
c.605G=
c.2575+189G= (n.2575+189G=)
2g.27085197G>TCA425382179EMILIN1c.2613G>T (p.Val871=)
c.605G>T
c.2575+189G>T (n.2575+189G>T)
2g.27085198G>ACA346156090EMILIN1c.2614G>A (p.Ala872Thr)
c.606G>A
c.2575+190G>A (n.2575+190G>A)
2g.27085198G>CCA346156092EMILIN1c.2614G>C (p.Ala872Pro)
c.606G>C
c.2575+190G>C (n.2575+190G>C)
2g.27085198G>TCA346156093EMILIN1c.2614G>T (p.Ala872Ser)
c.606G>T
c.2575+190G>T (n.2575+190G>T)
2g.27085199C>ACA346156095EMILIN1c.2615C>A (p.Ala872Glu)
c.607C>A
c.2575+191C>A (n.2575+191C>A)
2g.27085199C>GCA346156096EMILIN1c.2615C>G (p.Ala872Gly)
c.607C>G
c.2575+191C>G (n.2575+191C>G)
2g.27085199C>TCA346156097EMILIN1c.2615C>T (p.Ala872Val)
c.607C>T
c.2575+191C>T (n.2575+191C>T)
 gnomAD v4
2g.27085200A>CCA425382181EMILIN1c.2616A>C (p.Ala872=)
c.608A>C
c.2575+192A>C (n.2575+192A>C)
2g.27085200A>GCA425382180EMILIN1c.2616A>G (p.Ala872=)
c.608A>G
c.2575+192A>G (n.2575+192A>G)
2g.27085200A>TCA425382182EMILIN1c.2616A>T (p.Ala872=)
c.608A>T
c.2575+192A>T (n.2575+192A>T)
2g.27085201T>ACA346156100EMILIN1c.2617T>A (p.Phe873Ile)
c.609T>A
c.2575+193T>A (n.2575+193T>A)
2g.27085201T>CCA346156102EMILIN1c.2617T>C (p.Phe873Leu)
c.609T>C
c.2575+193T>C (n.2575+193T>C)
2g.27085201T>GCA346156101EMILIN1c.2617T>G (p.Phe873Val)
c.609T>G
c.2575+193T>G (n.2575+193T>G)
2g.27085202T>ACA346156104EMILIN1c.2618T>A (p.Phe873Tyr)
c.610T>A
c.2575+194T>A (n.2575+194T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.27085202T>CCA346156105EMILIN1c.2618T>C (p.Phe873Ser)
c.610T>C
c.2575+194T>C (n.2575+194T>C)
2g.27085202T>GCA346156107EMILIN1c.2618T>G (p.Phe873Cys)
c.610T>G
c.2575+194T>G (n.2575+194T>G)
 COSMIC
2g.27085202T=CA1240109676EMILIN1c.2618T= (p.Phe873=)
c.610T=
c.2575+194T= (n.2575+194T=)
2g.27085203T>ACA346156109EMILIN1c.2619T>A (p.Phe873Leu)
c.611T>A
c.2575+195T>A (n.2575+195T>A)
2g.27085203T>CCA425382183EMILIN1c.2619T>C (p.Phe873=)
c.611T>C
c.2575+195T>C (n.2575+195T>C)
2g.27085203T>GCA346156111EMILIN1c.2619T>G (p.Phe873Leu)
c.611T>G
c.2575+195T>G (n.2575+195T>G)
2g.27085204T>ACA346156112EMILIN1c.2620T>A (p.Ser874Thr)
c.612T>A
c.2575+196T>A (n.2575+196T>A)
2g.27085204T>CCA346156114EMILIN1c.2620T>C (p.Ser874Pro)
c.612T>C
c.2575+196T>C (n.2575+196T>C)
2g.27085204T>GCA346156115EMILIN1c.2620T>G (p.Ser874Ala)
c.612T>G
c.2575+196T>G (n.2575+196T>G)
2g.27085205C>ACA346156116EMILIN1c.2621C>A (p.Ser874Ter)
c.613C>A
c.2575+197C>A (n.2575+197C>A)
2g.27085205C>GCA346156118EMILIN1c.2621C>G (p.Ser874Ter)
c.613C>G
c.2575+197C>G (n.2575+197C>G)
2g.27085205C>TCA346156119EMILIN1c.2621C>T (p.Ser874Leu)
c.613C>T
c.2575+197C>T (n.2575+197C>T)
 gnomAD v4
2g.27085206A>CCA425382184EMILIN1c.2622A>C (p.Ser874=)
c.614A>C
c.2575+198A>C (n.2575+198A>C)
2g.27085206A>GCA425382185EMILIN1c.2622A>G (p.Ser874=)
c.614A>G
c.2575+198A>G (n.2575+198A>G)
2g.27085206A>TCA425382186EMILIN1c.2622A>T (p.Ser874=)
c.614A>T
c.2575+198A>T (n.2575+198A>T)
2g.27085207G>ACA346156123EMILIN1c.2623G>A (p.Ala875Thr)
c.615G>A
c.2575+199G>A (n.2575+199G>A)
2g.27085207G>CCA346156122EMILIN1c.2623G>C (p.Ala875Pro)
c.615G>C
c.2575+199G>C (n.2575+199G>C)
2g.27085207G>TCA346156121EMILIN1c.2623G>T (p.Ala875Ser)
c.615G>T
c.2575+199G>T (n.2575+199G>T)
2g.27085208C>ACA346156124EMILIN1c.2624C>A (p.Ala875Asp)
c.616C>A
c.2575+200C>A (n.2575+200C>A)
2g.27085208C=CA1240109677EMILIN1c.2624C= (p.Ala875=)
c.616C=
c.2575+200C= (n.2575+200C=)
2g.27085208C>GCA346156126EMILIN1c.2624C>G (p.Ala875Gly)
c.616C>G
c.2575+200C>G (n.2575+200C>G)
2g.27085208C>TCA1568989EMILIN1c.2624C>T (p.Ala875Val)
c.616C>T
c.2575+200C>T (n.2575+200C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085209T>ACA425382188EMILIN1c.2625T>A (p.Ala875=)
c.617T>A
c.2575+201T>A (n.2575+201T>A)
2g.27085209T>CCA1568990EMILIN1c.2625T>C (p.Ala875=)
c.617T>C
c.2575+201T>C (n.2575+201T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085209T>GCA425382189EMILIN1c.2625T>G (p.Ala875=)
c.617T>G
c.2575+201T>G (n.2575+201T>G)
2g.27085209T=CA1240109678EMILIN1c.2625T= (p.Ala875=)
c.617T=
c.2575+201T= (n.2575+201T=)
2g.27085210G>ACA346156128EMILIN1c.2626G>A (p.Ala876Thr)
c.618G>A
c.2575+202G>A (n.2575+202G>A)
2g.27085210G>CCA346156130EMILIN1c.2626G>C (p.Ala876Pro)
c.618G>C
c.2575+202G>C (n.2575+202G>C)
2g.27085210G>TCA346156131EMILIN1c.2626G>T (p.Ala876Ser)
c.618G>T
c.2575+202G>T (n.2575+202G>T)
2g.27085211C>ACA346156132EMILIN1c.2627C>A (p.Ala876Asp)
c.619C>A
c.2575+203C>A (n.2575+203C>A)
2g.27085211C>GCA346156134EMILIN1c.2627C>G (p.Ala876Gly)
c.619C>G
c.2575+203C>G (n.2575+203C>G)
2g.27085211C>TCA346156135EMILIN1c.2627C>T (p.Ala876Val)
c.619C>T
c.2575+203C>T (n.2575+203C>T)
2g.27085212T>ACA425382190EMILIN1c.2628T>A (p.Ala876=)
c.620T>A
c.2575+204T>A (n.2575+204T>A)
2g.27085212T>CCA425382191EMILIN1c.2628T>C (p.Ala876=)
c.620T>C
c.2575+204T>C (n.2575+204T>C)
2g.27085212T>GCA425382192EMILIN1c.2628T>G (p.Ala876=)
c.620T>G
c.2575+204T>G (n.2575+204T>G)
2g.27085213C>ACA346156136EMILIN1c.2629C>A (p.Leu877Met)
c.621C>A
c.2575+205C>A (n.2575+205C>A)
2g.27085213C=CA1240109679EMILIN1c.2629C= (p.Leu877=)
c.621C=
c.2575+205C= (n.2575+205C=)
2g.27085213C>GCA1568991EMILIN1c.2629C>G (p.Leu877Val)
c.621C>G
c.2575+205C>G (n.2575+205C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085213C>TCA425382193EMILIN1c.2629C>T (p.Leu877=)
c.621C>T
c.2575+205C>T (n.2575+205C>T)
 gnomAD v4
2g.27085214T>ACA346156139EMILIN1c.2630T>A (p.Leu877Gln)
c.622T>A
c.2575+206T>A (n.2575+206T>A)
2g.27085214T>CCA346156143EMILIN1c.2630T>C (p.Leu877Pro)
c.622T>C
c.2575+206T>C (n.2575+206T>C)
2g.27085214T>GCA346156140EMILIN1c.2630T>G (p.Leu877Arg)
c.622T>G
c.2575+206T>G (n.2575+206T>G)
 gnomAD v4
2g.27085214dupCA2658283613EMILIN1c.2630dup (p.Ser878GlufsTer6)
c.622dup
c.2575+206dup (n.2575+206dup)
 gnomAD v4
2g.27085215G>ACA425382194EMILIN1c.2631G>A (p.Leu877=)
c.623G>A
c.2575+207G>A (n.2575+207G>A)
 gnomAD v4
2g.27085215G>CCA425382195EMILIN1c.2631G>C (p.Leu877=)
c.623G>C
c.2575+207G>C (n.2575+207G>C)
2g.27085215G>TCA425382196EMILIN1c.2631G>T (p.Leu877=)
c.623G>T
c.2575+207G>T (n.2575+207G>T)
2g.27085216A=CA1240109680EMILIN1c.2632A= (p.Ser878=)
c.624A=
c.2575+208A= (n.2575+208A=)
2g.27085216A>CCA346156148EMILIN1c.2632A>C (p.Ser878Arg)
c.624A>C
c.2575+208A>C (n.2575+208A>C)
 gnomAD v4
2g.27085216A>GCA346156151EMILIN1c.2632A>G (p.Ser878Gly)
c.624A>G
c.2575+208A>G (n.2575+208A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085216A>TCA346156150EMILIN1c.2632A>T (p.Ser878Cys)
c.624A>T
c.2575+208A>T (n.2575+208A>T)
2g.27085217G>ACA1568992EMILIN1c.2633G>A (p.Ser878Asn)
c.625G>A
c.2575+209G>A (n.2575+209G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085217G>CCA346156155EMILIN1c.2633G>C (p.Ser878Thr)
c.625G>C
c.2575+209G>C (n.2575+209G>C)
2g.27085217G=CA1240109681EMILIN1c.2633G= (p.Ser878=)
c.625G=
c.2575+209G= (n.2575+209G=)
2g.27085217G>TCA346156153EMILIN1c.2633G>T (p.Ser878Ile)
c.625G>T
c.2575+209G>T (n.2575+209G>T)
2g.27085218T>ACA346156157EMILIN1c.2634T>A (p.Ser878Arg)
c.626T>A
c.2575+210T>A (n.2575+210T>A)
2g.27085218T>CCA425382198EMILIN1c.2634T>C (p.Ser878=)
c.626T>C
c.2575+210T>C (n.2575+210T>C)
2g.27085218T>GCA346156159EMILIN1c.2634T>G (p.Ser878Arg)
c.626T>G
c.2575+210T>G (n.2575+210T>G)
2g.27085219T>ACA346156160EMILIN1c.2635T>A (p.Leu879Met)
c.627T>A
c.2575+211T>A (n.2575+211T>A)
2g.27085219T>CCA425382199EMILIN1c.2635T>C (p.Leu879=)
c.627T>C
c.2575+211T>C (n.2575+211T>C)
2g.27085219T>GCA346156161EMILIN1c.2635T>G (p.Leu879Val)
c.627T>G
c.2575+211T>G (n.2575+211T>G)
2g.27085220T>ACA346156162EMILIN1c.2636T>A (p.Leu879Ter)
c.628T>A
c.2575+212T>A (n.2575+212T>A)
2g.27085220T>CCA346156164EMILIN1c.2636T>C (p.Leu879Ser)
c.628T>C
c.2575+212T>C (n.2575+212T>C)
2g.27085220T>GCA346156166EMILIN1c.2636T>G (p.Leu879Trp)
c.628T>G
c.2575+212T>G (n.2575+212T>G)
2g.27085220_27085221delinsTGCA1240109682EMILIN1c.2636_2637delinsTG (p.Leu879=)
c.628_629delinsTG
c.2575+212_2575+213delinsTG (n.2575+212_2575+213delinsTG)
2g.27085221delCA1240109683EMILIN1c.2637del (p.Leu879PhefsTer?)
c.629del
c.2575+213del (n.2575+213del)
 dbSNP
2g.27085221G>ACA1568993EMILIN1c.2637G>A (p.Leu879=)
c.629G>A
c.2575+213G>A (n.2575+213G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085221G>CCA346156169EMILIN1c.2637G>C (p.Leu879Phe)
c.629G>C
c.2575+213G>C (n.2575+213G>C)
2g.27085221G=CA1240109684EMILIN1c.2637G= (p.Leu879=)
c.629G=
c.2575+213G= (n.2575+213G=)
2g.27085221G>TCA1568994EMILIN1c.2637G>T (p.Leu879Phe)
c.629G>T
c.2575+213G>T (n.2575+213G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085222C>ACA346156171EMILIN1c.2638C>A (p.Pro880Thr)
c.630C>A
c.2575+214C>A (n.2575+214C>A)
2g.27085222C=CA1240109685EMILIN1c.2638C= (p.Pro880=)
c.630C=
c.2575+214C= (n.2575+214C=)
2g.27085222C>GCA346156173EMILIN1c.2638C>G (p.Pro880Ala)
c.630C>G
c.2575+214C>G (n.2575+214C>G)
2g.27085222C>TCA346156175EMILIN1c.2638C>T (p.Pro880Ser)
c.630C>T
c.2575+214C>T (n.2575+214C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.27085223C>ACA346156176EMILIN1c.2639C>A (p.Pro880His)
c.631C>A
c.2575+215C>A (n.2575+215C>A)
2g.27085223C=CA1240109686EMILIN1c.2639C= (p.Pro880=)
c.631C=
c.2575+215C= (n.2575+215C=)
2g.27085223C>GCA346156178EMILIN1c.2639C>G (p.Pro880Arg)
c.631C>G
c.2575+215C>G (n.2575+215C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.27085223C>TCA346156180EMILIN1c.2639C>T (p.Pro880Leu)
c.631C>T
c.2575+215C>T (n.2575+215C>T)
 gnomAD v4
2g.27085224C>ACA425382202EMILIN1c.2640C>A (p.Pro880=)
c.632C>A
c.2575+216C>A (n.2575+216C>A)
2g.27085224C>GCA425382201EMILIN1c.2640C>G (p.Pro880=)
c.632C>G
c.2575+216C>G (n.2575+216C>G)
 gnomAD v4
2g.27085224C>TCA425382200EMILIN1c.2640C>T (p.Pro880=)
c.632C>T
c.2575+216C>T (n.2575+216C>T)
2g.27085225C>ACA425382203EMILIN1c.2641C>A (p.Arg881=)
c.633C>A
c.2575+217C>A (n.2575+217C>A)
2g.27085225C=CA1240109687EMILIN1c.2641C= (p.Arg881=)
c.633C=
c.2575+217C= (n.2575+217C=)
2g.27085225C>GCA346156183EMILIN1c.2641C>G (p.Arg881Gly)
c.633C>G
c.2575+217C>G (n.2575+217C>G)
2g.27085225C>TCA346156181EMILIN1c.2641C>T (p.Arg881Trp)
c.633C>T
c.2575+217C>T (n.2575+217C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085226G>ACA1568995EMILIN1c.2642G>A (p.Arg881Gln)
c.634G>A
c.2575+218G>A (n.2575+218G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085226G>CCA346156186EMILIN1c.2642G>C (p.Arg881Pro)
c.634G>C
c.2575+218G>C (n.2575+218G>C)
2g.27085226G=CA1240109688EMILIN1c.2642G= (p.Arg881=)
c.634G=
c.2575+218G= (n.2575+218G=)
2g.27085226G>TCA346156187EMILIN1c.2642G>T (p.Arg881Leu)
c.634G>T
c.2575+218G>T (n.2575+218G>T)
 gnomAD v4
2g.27085227G>ACA425382204EMILIN1c.2643G>A (p.Arg881=)
c.635G>A
c.2575+219G>A (n.2575+219G>A)
2g.27085227G>CCA425382206EMILIN1c.2643G>C (p.Arg881=)
c.635G>C
c.2575+219G>C (n.2575+219G>C)
2g.27085227G>TCA425382205EMILIN1c.2643G>T (p.Arg881=)
c.635G>T
c.2575+219G>T (n.2575+219G>T)
2g.27085228T>ACA346156189EMILIN1c.2644T>A (p.Ser882Thr)
c.636T>A
c.2575+220T>A (n.2575+220T>A)
2g.27085228T>CCA346156191EMILIN1c.2644T>C (p.Ser882Pro)
c.636T>C
c.2575+220T>C (n.2575+220T>C)
2g.27085228T>GCA346156192EMILIN1c.2644T>G (p.Ser882Ala)
c.636T>G
c.2575+220T>G (n.2575+220T>G)
2g.27085229C>ACA346156194EMILIN1c.2645C>A (p.Ser882Tyr)
c.637C>A
c.2575+221C>A (n.2575+221C>A)
 gnomAD v4
2g.27085229C>GCA346156195EMILIN1c.2645C>G (p.Ser882Cys)
c.637C>G
c.2575+221C>G (n.2575+221C>G)
2g.27085229C>TCA346156197EMILIN1c.2645C>T (p.Ser882Phe)
c.637C>T
c.2575+221C>T (n.2575+221C>T)
2g.27085230T>ACA425382208EMILIN1c.2646T>A (p.Ser882=)
c.638T>A
c.2575+222T>A (n.2575+222T>A)
2g.27085230T>CCA425382209EMILIN1c.2646T>C (p.Ser882=)
c.638T>C
c.2575+222T>C (n.2575+222T>C)
2g.27085230T>GCA425382210EMILIN1c.2646T>G (p.Ser882=)
c.638T>G
c.2575+222T>G (n.2575+222T>G)
2g.27085231G>ACA346156199EMILIN1c.2647G>A (p.Glu883Lys)
c.639G>A
c.2575+223G>A (n.2575+223G>A)
2g.27085231G>CCA1568996EMILIN1c.2647G>C (p.Glu883Gln)
c.639G>C
c.2575+223G>C (n.2575+223G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085231G=CA1240109689EMILIN1c.2647G= (p.Glu883=)
c.639G=
c.2575+223G= (n.2575+223G=)
2g.27085231G>TCA346156200EMILIN1c.2647G>T (p.Glu883Ter)
c.639G>T
c.2575+223G>T (n.2575+223G>T)
2g.27085232A=CA1240109690EMILIN1c.2648A= (p.Glu883=)
c.640A=
c.2575+224A= (n.2575+224A=)
2g.27085232A>CCA1568997EMILIN1c.2648A>C (p.Glu883Ala)
c.640A>C
c.2575+224A>C (n.2575+224A>C)
 dbSNP ExAC gnomAD v2
2g.27085232A>GCA346156203EMILIN1c.2648A>G (p.Glu883Gly)
c.640A>G
c.2575+224A>G (n.2575+224A>G)
2g.27085232A>TCA346156201EMILIN1c.2648A>T (p.Glu883Val)
c.640A>T
c.2575+224A>T (n.2575+224A>T)
2g.27085233A=CA1240109691EMILIN1c.2649A= (p.Glu883=)
c.641A=
c.2575+225A= (n.2575+225A=)
2g.27085233A>CCA346156205EMILIN1c.2649A>C (p.Glu883Asp)
c.641A>C
c.2575+225A>C (n.2575+225A>C)
2g.27085233A>GCA425382212EMILIN1c.2649A>G (p.Glu883=)
c.641A>G
c.2575+225A>G (n.2575+225A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.27085233A>TCA346156206EMILIN1c.2649A>T (p.Glu883Asp)
c.641A>T
c.2575+225A>T (n.2575+225A>T)
2g.27085234C>ACA346156208EMILIN1c.2650C>A (p.Pro884Thr)
c.642C>A
c.2575+226C>A (n.2575+226C>A)
2g.27085234C=CA1240109692EMILIN1c.2650C= (p.Pro884=)
c.642C=
c.2575+226C= (n.2575+226C=)
2g.27085234C>GCA346156210EMILIN1c.2650C>G (p.Pro884Ala)
c.642C>G
c.2575+226C>G (n.2575+226C>G)
2g.27085234C>TCA44468548EMILIN1c.2650C>T (p.Pro884Ser)
c.642C>T
c.2575+226C>T (n.2575+226C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085235C>ACA346156212EMILIN1c.2651C>A (p.Pro884Gln)
c.643C>A
c.2575+227C>A (n.2575+227C>A)
2g.27085235C>GCA346156214EMILIN1c.2651C>G (p.Pro884Arg)
c.643C>G
c.2575+227C>G (n.2575+227C>G)
2g.27085235C>TCA346156216EMILIN1c.2651C>T (p.Pro884Leu)
c.643C>T
c.2575+227C>T (n.2575+227C>T)
 gnomAD v4
2g.27085236A=CA1240109693EMILIN1c.2652A= (p.Pro884=)
c.644A=
c.2575+228A= (n.2575+228A=)
2g.27085236A>CCA425382214EMILIN1c.2652A>C (p.Pro884=)
c.644A>C
c.2575+228A>C (n.2575+228A>C)
2g.27085236A>GCA425382215EMILIN1c.2652A>G (p.Pro884=)
c.644A>G
c.2575+228A>G (n.2575+228A>G)
 dbSNP
2g.27085236A>TCA425382216EMILIN1c.2652A>T (p.Pro884=)
c.644A>T
c.2575+228A>T (n.2575+228A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.27085237G>ACA346156218EMILIN1c.2653G>A (p.Gly885Ser)
c.645G>A
c.2575+229G>A (n.2575+229G>A)
2g.27085237G>CCA346156219EMILIN1c.2653G>C (p.Gly885Arg)
c.645G>C
c.2575+229G>C (n.2575+229G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085237G=CA1240109694EMILIN1c.2653G= (p.Gly885=)
c.645G=
c.2575+229G= (n.2575+229G=)
2g.27085237G>TCA346156221EMILIN1c.2653G>T (p.Gly885Cys)
c.645G>T
c.2575+229G>T (n.2575+229G>T)
2g.27085238G>ACA1568998EMILIN1c.2654G>A (p.Gly885Asp)
c.646G>A
c.2575+230G>A (n.2575+230G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085238G>CCA346156224EMILIN1c.2654G>C (p.Gly885Ala)
c.646G>C
c.2575+230G>C (n.2575+230G>C)
2g.27085238G=CA1240109695EMILIN1c.2654G= (p.Gly885=)
c.646G=
c.2575+230G= (n.2575+230G=)
2g.27085238G>TCA346156223EMILIN1c.2654G>T (p.Gly885Val)
c.646G>T
c.2575+230G>T (n.2575+230G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.27085239C>ACA425382217EMILIN1c.2655C>A (p.Gly885=)
c.647C>A
c.2575+231C>A (n.2575+231C>A)
2g.27085239C>GCA425382218EMILIN1c.2655C>G (p.Gly885=)
c.647C>G
c.2575+231C>G (n.2575+231C>G)
2g.27085239C>TCA425382220EMILIN1c.2655C>T (p.Gly885=)
c.647C>T
c.2575+231C>T (n.2575+231C>T)
2g.27085240A>CCA346156226EMILIN1c.2656A>C (p.Thr886Pro)
c.648A>C
c.2575+232A>C (n.2575+232A>C)
2g.27085240A>GCA346156228EMILIN1c.2656A>G (p.Thr886Ala)
c.648A>G
c.2575+232A>G (n.2575+232A>G)
2g.27085240A>TCA346156230EMILIN1c.2656A>T (p.Thr886Ser)
c.648A>T
c.2575+232A>T (n.2575+232A>T)
2g.27085241C>ACA346156231EMILIN1c.2657C>A (p.Thr886Lys)
c.649C>A
c.2575+233C>A (n.2575+233C>A)
2g.27085241C=CA1240109696EMILIN1c.2657C= (p.Thr886=)
c.649C=
c.2575+233C= (n.2575+233C=)
2g.27085241C>GCA346156232EMILIN1c.2657C>G (p.Thr886Arg)
c.649C>G
c.2575+233C>G (n.2575+233C>G)
2g.27085241C>TCA1568999EMILIN1c.2657C>T (p.Thr886Met)
c.649C>T
c.2575+233C>T (n.2575+233C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085242G>ACA1569000EMILIN1c.2658G>A (p.Thr886=)
c.650G>A
c.2575+234G>A (n.2575+234G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085242G>CCA425382222EMILIN1c.2658G>C (p.Thr886=)
c.650G>C
c.2575+234G>C (n.2575+234G>C)
2g.27085242G=CA1240109697EMILIN1c.2658G= (p.Thr886=)
c.650G=
c.2575+234G= (n.2575+234G=)
2g.27085242G>TCA425382221EMILIN1c.2658G>T (p.Thr886=)
c.650G>T
c.2575+234G>T (n.2575+234G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.27085243G>ACA346156236EMILIN1c.2659G>A (p.Val887Ile)
c.651G>A
c.2575+235G>A (n.2575+235G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085243G>CCA346156237EMILIN1c.2659G>C (p.Val887Leu)
c.651G>C
c.2575+235G>C (n.2575+235G>C)
2g.27085243G=CA1240109698EMILIN1c.2659G= (p.Val887=)
c.651G=
c.2575+235G= (n.2575+235G=)
2g.27085243G>TCA346156239EMILIN1c.2659G>T (p.Val887Phe)
c.651G>T
c.2575+235G>T (n.2575+235G>T)
2g.27085244T>ACA346156242EMILIN1c.2660T>A (p.Val887Asp)
c.652T>A
c.2575+236T>A (n.2575+236T>A)
2g.27085244T>CCA346156243EMILIN1c.2660T>C (p.Val887Ala)
c.652T>C
c.2575+236T>C (n.2575+236T>C)
2g.27085244T>GCA346156245EMILIN1c.2660T>G (p.Val887Gly)
c.652T>G
c.2575+236T>G (n.2575+236T>G)
 gnomAD v4
2g.27085245C>ACA425382224EMILIN1c.2661C>A (p.Val887=)
c.653C>A
c.2575+237C>A (n.2575+237C>A)
2g.27085245C=CA1240109699EMILIN1c.2661C= (p.Val887=)
c.653C=
c.2575+237C= (n.2575+237C=)
2g.27085245C>GCA425382225EMILIN1c.2661C>G (p.Val887=)
c.653C>G
c.2575+237C>G (n.2575+237C>G)
2g.27085245C>TCA1569001EMILIN1c.2661C>T (p.Val887=)
c.653C>T
c.2575+237C>T (n.2575+237C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085246C>ACA346156249EMILIN1c.2662C>A (p.Pro888Thr)
c.654C>A
c.2575+238C>A (n.2575+238C>A)
2g.27085246C>GCA346156247EMILIN1c.2662C>G (p.Pro888Ala)
c.654C>G
c.2575+238C>G (n.2575+238C>G)
2g.27085246C>TCA346156250EMILIN1c.2662C>T (p.Pro888Ser)
c.654C>T
c.2575+238C>T (n.2575+238C>T)
 gnomAD v4
2g.27085246_27085247delinsTTCA645530558EMILIN1c.2662_2663delinsTT (p.Pro888Phe)
c.654_655delinsTT
c.2575+238_2575+239delinsTT (n.2575+238_2575+239delinsTT)
 COSMIC
2g.27085247C>ACA346156252EMILIN1c.2663C>A (p.Pro888His)
c.655C>A
c.2575+239C>A (n.2575+239C>A)
2g.27085247C>GCA346156253EMILIN1c.2663C>G (p.Pro888Arg)
c.655C>G
c.2575+239C>G (n.2575+239C>G)
2g.27085247C>TCA346156255EMILIN1c.2663C>T (p.Pro888Leu)
c.655C>T
c.2575+239C>T (n.2575+239C>T)
 gnomAD v4
2g.27085248C>ACA425382228EMILIN1c.2664C>A (p.Pro888=)
c.656C>A
c.2575+240C>A (n.2575+240C>A)
 COSMIC
2g.27085248C>GCA425382226EMILIN1c.2664C>G (p.Pro888=)
c.656C>G
c.2575+240C>G (n.2575+240C>G)
2g.27085248C>TCA425382227EMILIN1c.2664C>T (p.Pro888=)
c.656C>T
c.2575+240C>T (n.2575+240C>T)
2g.27085249T>ACA346156257EMILIN1c.2665T>A (p.Phe889Ile)
c.657T>A
c.2575+241T>A (n.2575+241T>A)
2g.27085249T>CCA346156259EMILIN1c.2665T>C (p.Phe889Leu)
c.657T>C
c.2575+241T>C (n.2575+241T>C)
2g.27085249T>GCA346156260EMILIN1c.2665T>G (p.Phe889Val)
c.657T>G
c.2575+241T>G (n.2575+241T>G)
 gnomAD v4
2g.27085250T>ACA346156261EMILIN1c.2666T>A (p.Phe889Tyr)
c.658T>A
c.2575+242T>A (n.2575+242T>A)
2g.27085250T>CCA346156263EMILIN1c.2666T>C (p.Phe889Ser)
c.658T>C
c.2575+242T>C (n.2575+242T>C)
2g.27085250T>GCA346156265EMILIN1c.2666T>G (p.Phe889Cys)
c.658T>G
c.2575+242T>G (n.2575+242T>G)
2g.27085251C>ACA346156266EMILIN1c.2667C>A (p.Phe889Leu)
c.659C>A
c.2575+243C>A (n.2575+243C>A)
2g.27085251C>GCA346156267EMILIN1c.2667C>G (p.Phe889Leu)
c.659C>G
c.2575+243C>G (n.2575+243C>G)
 gnomAD v4
2g.27085251C>TCA425382229EMILIN1c.2667C>T (p.Phe889=)
c.659C>T
c.2575+243C>T (n.2575+243C>T)
2g.27085252G>ACA346156273EMILIN1c.2668G>A (p.Asp890Asn)
c.660G>A
c.2575+244G>A (n.2575+244G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.27085252G>CCA346156271EMILIN1c.2668G>C (p.Asp890His)
c.660G>C
c.2575+244G>C (n.2575+244G>C)
2g.27085252G=CA1240109700EMILIN1c.2668G= (p.Asp890=)
c.660G=
c.2575+244G= (n.2575+244G=)
2g.27085252G>TCA346156269EMILIN1c.2668G>T (p.Asp890Tyr)
c.660G>T
c.2575+244G>T (n.2575+244G>T)
2g.27085253A>CCA346156274EMILIN1c.2669A>C (p.Asp890Ala)
c.661A>C
c.2575+245A>C (n.2575+245A>C)
2g.27085253A>GCA346156275EMILIN1c.2669A>G (p.Asp890Gly)
c.661A>G
c.2575+245A>G (n.2575+245A>G)
 gnomAD v4
2g.27085253A>TCA346156277EMILIN1c.2669A>T (p.Asp890Val)
c.661A>T
c.2575+245A>T (n.2575+245A>T)
2g.27085254C>ACA346156279EMILIN1c.2670C>A (p.Asp890Glu)
c.662C>A
c.2575+246C>A (n.2575+246C>A)
2g.27085254C>GCA346156280EMILIN1c.2670C>G (p.Asp890Glu)
c.662C>G
c.2575+246C>G (n.2575+246C>G)
2g.27085254C>TCA425382231EMILIN1c.2670C>T (p.Asp890=)
c.662C>T
c.2575+246C>T (n.2575+246C>T)
2g.27085254_27085256delinsCAGCA1240109701EMILIN1c.2670_2672delinsCAG (p.Asp890=)
c.662_664delinsCAG
c.2575+246_2575+248delinsCAG (n.2575+246_2575+248delinsCAG)
2g.27085255A>CCA425382232EMILIN1c.2671A>C (p.Arg891=)
c.663A>C
c.2575+247A>C (n.2575+247A>C)
2g.27085255A>GCA346156282EMILIN1c.2671A>G (p.Arg891Gly)
c.663A>G
c.2575+247A>G (n.2575+247A>G)
 gnomAD v4
2g.27085255A>TCA346156283EMILIN1c.2671A>T (p.Arg891Ter)
c.663A>T
c.2575+247A>T (n.2575+247A>T)
2g.27085257_27085258delCA531422476EMILIN1c.2673_2674del (p.Arg891SerfsTer5)
c.665_666del
c.2575+249_2575+250del (n.2575+249_2575+250del)
 dbSNP gnomAD v2 gnomAD v4
2g.27085256G>ACA346156286EMILIN1c.2672G>A (p.Arg891Lys)
c.664G>A
c.2575+248G>A (n.2575+248G>A)
2g.27085256G>CCA346156287EMILIN1c.2672G>C (p.Arg891Thr)
c.664G>C
c.2575+248G>C (n.2575+248G>C)
2g.27085256G>TCA346156288EMILIN1c.2672G>T (p.Arg891Ile)
c.664G>T
c.2575+248G>T (n.2575+248G>T)
2g.27085257A=CA1240109702EMILIN1c.2673A= (p.Arg891=)
c.665A=
c.2575+249A= (n.2575+249A=)
2g.27085257A>CCA346156291EMILIN1c.2673A>C (p.Arg891Ser)
c.665A>C
c.2575+249A>C (n.2575+249A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.27085257A>GCA425382236EMILIN1c.2673A>G (p.Arg891=)
c.665A>G
c.2575+249A>G (n.2575+249A>G)
2g.27085257A>TCA346156295EMILIN1c.2673A>T (p.Arg891Ser)
c.665A>T
c.2575+249A>T (n.2575+249A>T)
2g.27085258G>ACA346156300EMILIN1c.2674G>A (p.Val892Ile)
c.666G>A
c.2575+250G>A (n.2575+250G>A)
 gnomAD v4
2g.27085258G>CCA346156298EMILIN1c.2674G>C (p.Val892Leu)
c.666G>C
c.2575+250G>C (n.2575+250G>C)
2g.27085258G>TCA346156297EMILIN1c.2674G>T (p.Val892Phe)
c.666G>T
c.2575+250G>T (n.2575+250G>T)
2g.27085259T>ACA346156303EMILIN1c.2675T>A (p.Val892Asp)
c.667T>A
c.2575+251T>A (n.2575+251T>A)
2g.27085259T>CCA346156304EMILIN1c.2675T>C (p.Val892Ala)
c.667T>C
c.2575+251T>C (n.2575+251T>C)
2g.27085259T>GCA346156305EMILIN1c.2675T>G (p.Val892Gly)
c.667T>G
c.2575+251T>G (n.2575+251T>G)

Number of alleles fetched