Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27085109dupCA2749254983EMILIN1c.2576-51dup (n.2576-51dup)
c.568-51dup
c.2575+101dup (n.2575+101dup)
2g.27085108_27085109dupCA2749254984EMILIN1c.2576-52_2576-51dup (n.2576-52_2576-51dup)
c.568-52_568-51dup
c.2575+100_2575+101dup (n.2575+100_2575+101dup)
2g.27085108G>ACA531422423EMILIN1c.2576-52G>A (n.2576-52G>A)
c.568-52G>A
c.2575+100G>A (n.2575+100G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27085108G=CA1240109632EMILIN1c.2576-52G= (n.2576-52G=)
c.568-52G=
c.2575+100G= (n.2575+100G=)
2g.27085108G>TCA767343627EMILIN1c.2576-52G>T (n.2576-52G>T)
c.568-52G>T
c.2575+100G>T (n.2575+100G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.27085109G>ACA2658283500EMILIN1c.2576-51G>A (n.2576-51G>A)
c.568-51G>A
c.2575+101G>A (n.2575+101G>A)
 gnomAD v4
2g.27085113G>ACA2658283503EMILIN1c.2576-47G>A (n.2576-47G>A)
c.568-47G>A
c.2575+105G>A (n.2575+105G>A)
 gnomAD v4
2g.27085113G>CCA1240109634EMILIN1c.2576-47G>C (n.2576-47G>C)
c.568-47G>C
c.2575+105G>C (n.2575+105G>C)
 dbSNP gnomAD v3
2g.27085113G=CA1240109633EMILIN1c.2576-47G= (n.2576-47G=)
c.568-47G=
c.2575+105G= (n.2575+105G=)
2g.27085115A=CA1240109636EMILIN1c.2576-45A= (n.2576-45A=)
c.568-45A=
c.2575+107A= (n.2575+107A=)
2g.27085115A>CCA1240109635EMILIN1c.2576-45A>C (n.2576-45A>C)
c.568-45A>C
c.2575+107A>C (n.2575+107A>C)
 dbSNP
2g.27085115_27085116delinsACCA1240109637EMILIN1c.2576-45_2576-44delinsAC (n.2576-45_2576-44delinsAC)
c.568-45_568-44delinsAC
c.2575+107_2575+108delinsAC (n.2575+107_2575+108delinsAC)
2g.27085116delCA767343631EMILIN1c.2576-44del (n.2576-44del)
c.568-44del
c.2575+108del (n.2575+108del)
 dbSNP gnomAD v4
2g.27085120G>ACA2658283507EMILIN1c.2576-40G>A (n.2576-40G>A)
c.568-40G>A
c.2575+112G>A (n.2575+112G>A)
 gnomAD v4
2g.27085120G>TCA2658283506EMILIN1c.2576-40G>T (n.2576-40G>T)
c.568-40G>T
c.2575+112G>T (n.2575+112G>T)
 gnomAD v4
2g.27085121C=CA1240109638EMILIN1c.2576-39C= (n.2576-39C=)
c.568-39C=
c.2575+113C= (n.2575+113C=)
2g.27085121C>TCA1568977EMILIN1c.2576-39C>T (n.2576-39C>T)
c.568-39C>T
c.2575+113C>T (n.2575+113C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085122C=CA1240109639EMILIN1c.2576-38C= (n.2576-38C=)
c.568-38C=
c.2575+114C= (n.2575+114C=)
2g.27085122C>TCA1240109640EMILIN1c.2576-38C>T (n.2576-38C>T)
c.568-38C>T
c.2575+114C>T (n.2575+114C>T)
 dbSNP gnomAD v4
2g.27085123C>GCA2658283513EMILIN1c.2576-37C>G (n.2576-37C>G)
c.568-37C>G
c.2575+115C>G (n.2575+115C>G)
 gnomAD v4
2g.27085124T>ACA2749254986EMILIN1c.2576-36T>A (n.2576-36T>A)
c.568-36T>A
c.2575+116T>A (n.2575+116T>A)
2g.27085124T>CCA1240109642EMILIN1c.2576-36T>C (n.2576-36T>C)
c.568-36T>C
c.2575+116T>C (n.2575+116T>C)
 dbSNP
2g.27085124T=CA1240109641EMILIN1c.2576-36T= (n.2576-36T=)
c.568-36T=
c.2575+116T= (n.2575+116T=)
2g.27085125G>ACA1240109644EMILIN1c.2576-35G>A (n.2576-35G>A)
c.568-35G>A
c.2575+117G>A (n.2575+117G>A)
 dbSNP
2g.27085125G=CA1240109643EMILIN1c.2576-35G= (n.2576-35G=)
c.568-35G=
c.2575+117G= (n.2575+117G=)
2g.27085126A>GCA2658283514EMILIN1c.2576-34A>G (n.2576-34A>G)
c.568-34A>G
c.2575+118A>G (n.2575+118A>G)
 gnomAD v4
2g.27085133_27085144delCA2658283517EMILIN1c.2576-27_2576-16del (n.2576-27_2576-16del)
c.568-27_568-16del
c.2575+125_2575+136del (n.2575+125_2575+136del)
 gnomAD v4
2g.27085130T>ACA2658283519EMILIN1c.2576-30T>A (n.2576-30T>A)
c.568-30T>A
c.2575+122T>A (n.2575+122T>A)
 gnomAD v4
2g.27085131C>ACA531422425EMILIN1c.2576-29C>A (n.2576-29C>A)
c.568-29C>A
c.2575+123C>A (n.2575+123C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.27085131C=CA1240109645EMILIN1c.2576-29C= (n.2576-29C=)
c.568-29C=
c.2575+123C= (n.2575+123C=)
2g.27085132C>ACA2576702681EMILIN1c.2576-28C>A (n.2576-28C>A)
c.568-28C>A
c.2575+124C>A (n.2575+124C>A)
 gnomAD v4
2g.27085132C=CA1240109646EMILIN1c.2576-28C= (n.2576-28C=)
c.568-28C=
c.2575+124C= (n.2575+124C=)
2g.27085132C>GCA767343665EMILIN1c.2576-28C>G (n.2576-28C>G)
c.568-28C>G
c.2575+124C>G (n.2575+124C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.27085133C=CA1240109647EMILIN1c.2576-27C= (n.2576-27C=)
c.568-27C=
c.2575+125C= (n.2575+125C=)
2g.27085133C>TCA1240109648EMILIN1c.2576-27C>T (n.2576-27C>T)
c.568-27C>T
c.2575+125C>T (n.2575+125C>T)
 dbSNP
2g.27085142_27085146delinsTCCACCA1240109649EMILIN1c.2576-18_2576-14delinsTCCAC (n.2576-18_2576-14delinsTCCAC)
c.568-18_568-14delinsTCCAC
c.2575+134_2575+138delinsTCCAC (n.2575+134_2575+138delinsTCCAC)
2g.27085143C=CA1240109650EMILIN1c.2576-17C= (n.2576-17C=)
c.568-17C=
c.2575+135C= (n.2575+135C=)
2g.27085143C>TCA767343670EMILIN1c.2576-17C>T (n.2576-17C>T)
c.568-17C>T
c.2575+135C>T (n.2575+135C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.27085145_27085148delCA1568978EMILIN1c.2576-15_2576-12del (n.2576-15_2576-12del)
c.568-15_568-12del
c.2575+137_2575+140del (n.2575+137_2575+140del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085144C=CA1240109651EMILIN1c.2576-16C= (n.2576-16C=)
c.568-16C=
c.2575+136C= (n.2575+136C=)
2g.27085144C>TCA1568979EMILIN1c.2576-16C>T (n.2576-16C>T)
c.568-16C>T
c.2575+136C>T (n.2575+136C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085145A=CA1240109652EMILIN1c.2576-15A= (n.2576-15A=)
c.568-15A=
c.2575+137A= (n.2575+137A=)
2g.27085145A>CCA1240109653EMILIN1c.2576-15A>C (n.2576-15A>C)
c.568-15A>C
c.2575+137A>C (n.2575+137A>C)
 dbSNP
2g.27085151C>GCA2658283535EMILIN1c.2576-9C>G (n.2576-9C>G)
c.568-9C>G
c.2575+143C>G (n.2575+143C>G)
 gnomAD v4
2g.27085152C>ACA1568980EMILIN1c.2576-8C>A (n.2576-8C>A)
c.568-8C>A
c.2575+144C>A (n.2575+144C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27085152C=CA1240109654EMILIN1c.2576-8C= (n.2576-8C=)
c.568-8C=
c.2575+144C= (n.2575+144C=)
2g.27085153C=CA1240109655EMILIN1c.2576-7C= (n.2576-7C=)
c.568-7C=
c.2575+145C= (n.2575+145C=)
2g.27085153C>TCA1240109656EMILIN1c.2576-7C>T (n.2576-7C>T)
c.568-7C>T
c.2575+145C>T (n.2575+145C>T)
 dbSNP
2g.27085154A=CA1240109657EMILIN1c.2576-6A= (n.2576-6A=)
c.568-6A=
c.2575+146A= (n.2575+146A=)
2g.27085154A>GCA1568981EMILIN1c.2576-6A>G (n.2576-6A>G)
c.568-6A>G
c.2575+146A>G (n.2575+146A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27085155C>TCA2658283543EMILIN1c.2576-5C>T (n.2576-5C>T)
c.568-5C>T
c.2575+147C>T (n.2575+147C>T)
 gnomAD v4
2g.27085158A=CA1240109658EMILIN1c.2576-2A= (n.2576-2A=)
c.568-2A=
c.2575+150A= (n.2575+150A=)
2g.27085158A>CCA346155970EMILIN1c.2576-2A>C (n.2576-2A>C)
c.568-2A>C
c.2575+150A>C (n.2575+150A>C)
 dbSNP
2g.27085158A>GCA346155971EMILIN1c.2576-2A>G (n.2576-2A>G)
c.568-2A>G
c.2575+150A>G (n.2575+150A>G)
2g.27085158A>TCA346155973EMILIN1c.2576-2A>T (n.2576-2A>T)
c.568-2A>T
c.2575+150A>T (n.2575+150A>T)
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

Number of alleles fetched