Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27085124T>A | CA2749254986 | EMILIN1 | c.2576-36T>A (n.2576-36T>A) c.568-36T>A c.2575+116T>A (n.2575+116T>A) | |
2 | g.27085124T>C | CA1240109642 | EMILIN1 | c.2576-36T>C (n.2576-36T>C) c.568-36T>C c.2575+116T>C (n.2575+116T>C) | dbSNP |
2 | g.27085124T= | CA1240109641 | EMILIN1 | c.2576-36T= (n.2576-36T=) c.568-36T= c.2575+116T= (n.2575+116T=) | |
2 | g.27085125G>A | CA1240109644 | EMILIN1 | c.2576-35G>A (n.2576-35G>A) c.568-35G>A c.2575+117G>A (n.2575+117G>A) | dbSNP |
2 | g.27085125G= | CA1240109643 | EMILIN1 | c.2576-35G= (n.2576-35G=) c.568-35G= c.2575+117G= (n.2575+117G=) | |
2 | g.27085126A>G | CA2658283514 | EMILIN1 | c.2576-34A>G (n.2576-34A>G) c.568-34A>G c.2575+118A>G (n.2575+118A>G) | gnomAD v4 |
2 | g.27085133_27085144del | CA2658283517 | EMILIN1 | c.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 |
2 | g.27085130T>A | CA2658283519 | EMILIN1 | c.2576-30T>A (n.2576-30T>A) c.568-30T>A c.2575+122T>A (n.2575+122T>A) | gnomAD v4 |
2 | g.27085131C>A | CA531422425 | EMILIN1 | c.2576-29C>A (n.2576-29C>A) c.568-29C>A c.2575+123C>A (n.2575+123C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085131C= | CA1240109645 | EMILIN1 | c.2576-29C= (n.2576-29C=) c.568-29C= c.2575+123C= (n.2575+123C=) | |
2 | g.27085132C>A | CA2576702681 | EMILIN1 | c.2576-28C>A (n.2576-28C>A) c.568-28C>A c.2575+124C>A (n.2575+124C>A) | gnomAD v4 |
2 | g.27085132C= | CA1240109646 | EMILIN1 | c.2576-28C= (n.2576-28C=) c.568-28C= c.2575+124C= (n.2575+124C=) | |
2 | g.27085132C>G | CA767343665 | EMILIN1 | c.2576-28C>G (n.2576-28C>G) c.568-28C>G c.2575+124C>G (n.2575+124C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085133C= | CA1240109647 | EMILIN1 | c.2576-27C= (n.2576-27C=) c.568-27C= c.2575+125C= (n.2575+125C=) | |
2 | g.27085133C>T | CA1240109648 | EMILIN1 | c.2576-27C>T (n.2576-27C>T) c.568-27C>T c.2575+125C>T (n.2575+125C>T) | dbSNP |
2 | g.27085142_27085146delinsTCCAC | CA1240109649 | EMILIN1 | c.2576-18_2576-14delinsTCCAC (n.2576-18_2576-14delinsTCCAC) c.568-18_568-14delinsTCCAC c.2575+134_2575+138delinsTCCAC (n.2575+134_2575+138delinsTCCAC) | |
2 | g.27085143C= | CA1240109650 | EMILIN1 | c.2576-17C= (n.2576-17C=) c.568-17C= c.2575+135C= (n.2575+135C=) | |
2 | g.27085143C>T | CA767343670 | EMILIN1 | c.2576-17C>T (n.2576-17C>T) c.568-17C>T c.2575+135C>T (n.2575+135C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085145_27085148del | CA1568978 | EMILIN1 | c.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 |
2 | g.27085144C= | CA1240109651 | EMILIN1 | c.2576-16C= (n.2576-16C=) c.568-16C= c.2575+136C= (n.2575+136C=) | |
2 | g.27085144C>T | CA1568979 | EMILIN1 | c.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 |
2 | g.27085145A= | CA1240109652 | EMILIN1 | c.2576-15A= (n.2576-15A=) c.568-15A= c.2575+137A= (n.2575+137A=) | |
2 | g.27085145A>C | CA1240109653 | EMILIN1 | c.2576-15A>C (n.2576-15A>C) c.568-15A>C c.2575+137A>C (n.2575+137A>C) | dbSNP |
2 | g.27085151C>G | CA2658283535 | EMILIN1 | c.2576-9C>G (n.2576-9C>G) c.568-9C>G c.2575+143C>G (n.2575+143C>G) | gnomAD v4 |
2 | g.27085152C>A | CA1568980 | EMILIN1 | c.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 |
2 | g.27085152C= | CA1240109654 | EMILIN1 | c.2576-8C= (n.2576-8C=) c.568-8C= c.2575+144C= (n.2575+144C=) | |
2 | g.27085153C= | CA1240109655 | EMILIN1 | c.2576-7C= (n.2576-7C=) c.568-7C= c.2575+145C= (n.2575+145C=) | |
2 | g.27085153C>T | CA1240109656 | EMILIN1 | c.2576-7C>T (n.2576-7C>T) c.568-7C>T c.2575+145C>T (n.2575+145C>T) | dbSNP |
2 | g.27085154A= | CA1240109657 | EMILIN1 | c.2576-6A= (n.2576-6A=) c.568-6A= c.2575+146A= (n.2575+146A=) | |
2 | g.27085154A>G | CA1568981 | EMILIN1 | c.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 |
2 | g.27085155C>T | CA2658283543 | EMILIN1 | c.2576-5C>T (n.2576-5C>T) c.568-5C>T c.2575+147C>T (n.2575+147C>T) | gnomAD v4 |
2 | g.27085158A= | CA1240109658 | EMILIN1 | c.2576-2A= (n.2576-2A=) c.568-2A= c.2575+150A= (n.2575+150A=) | |
2 | g.27085158A>C | CA346155970 | EMILIN1 | c.2576-2A>C (n.2576-2A>C) c.568-2A>C c.2575+150A>C (n.2575+150A>C) | dbSNP |
2 | g.27085158A>G | CA346155971 | EMILIN1 | c.2576-2A>G (n.2576-2A>G) c.568-2A>G c.2575+150A>G (n.2575+150A>G) | |
2 | g.27085158A>T | CA346155973 | EMILIN1 | c.2576-2A>T (n.2576-2A>T) c.568-2A>T c.2575+150A>T (n.2575+150A>T) | |
2 | g.27085159G>A | CA346155975 | EMILIN1 | c.2576-1G>A (n.2576-1G>A) c.568-1G>A c.2575+151G>A (n.2575+151G>A) | |
2 | g.27085159G>C | CA346155977 | EMILIN1 | c.2576-1G>C (n.2576-1G>C) c.568-1G>C c.2575+151G>C (n.2575+151G>C) | |
2 | g.27085159G>T | CA346155979 | EMILIN1 | c.2576-1G>T (n.2576-1G>T) c.568-1G>T c.2575+151G>T (n.2575+151G>T) | |
2 | g.27085160G>A | CA1568982 | EMILIN1 | c.2576G>A (p.Gly859Glu) c.568G>A c.2575+152G>A (n.2575+152G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085160G>C | CA346155982 | EMILIN1 | c.2576G>C (p.Gly859Ala) c.568G>C c.2575+152G>C (n.2575+152G>C) | |
2 | g.27085160G= | CA1240109659 | EMILIN1 | c.2576G= (p.Gly859=) c.568G= c.2575+152G= (n.2575+152G=) | |
2 | g.27085160G>T | CA346155984 | EMILIN1 | c.2576G>T (p.Gly859Val) c.568G>T c.2575+152G>T (n.2575+152G>T) | |
2 | g.27085161A>C | CA425382065 | EMILIN1 | c.2577A>C (p.Gly859=) c.569A>C c.2575+153A>C (n.2575+153A>C) | |
2 | g.27085161A>G | CA425382066 | EMILIN1 | c.2577A>G (p.Gly859=) c.569A>G c.2575+153A>G (n.2575+153A>G) | |
2 | g.27085161A>T | CA425382067 | EMILIN1 | c.2577A>T (p.Gly859=) c.569A>T c.2575+153A>T (n.2575+153A>T) | |
2 | g.27085162G>A | CA346155986 | EMILIN1 | c.2578G>A (p.Val860Met) c.570G>A c.2575+154G>A (n.2575+154G>A) | dbSNP gnomAD v4 |
2 | g.27085162G>C | CA1568983 | EMILIN1 | c.2578G>C (p.Val860Leu) c.570G>C c.2575+154G>C (n.2575+154G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085162G= | CA1240109660 | EMILIN1 | c.2578G= (p.Val860=) c.570G= c.2575+154G= (n.2575+154G=) | |
2 | g.27085162G>T | CA346155989 | EMILIN1 | c.2578G>T (p.Val860Leu) c.570G>T c.2575+154G>T (n.2575+154G>T) | |
2 | g.27085163T>A | CA346155991 | EMILIN1 | c.2579T>A (p.Val860Glu) c.571T>A c.2575+155T>A (n.2575+155T>A) | |
2 | g.27085163T>C | CA346155995 | EMILIN1 | c.2579T>C (p.Val860Ala) c.571T>C c.2575+155T>C (n.2575+155T>C) | |
2 | g.27085163T>G | CA346155993 | EMILIN1 | c.2579T>G (p.Val860Gly) c.571T>G c.2575+155T>G (n.2575+155T>G) | |
2 | g.27085164G>A | CA425382071 | EMILIN1 | c.2580G>A (p.Val860=) c.572G>A c.2575+156G>A (n.2575+156G>A) | |
2 | g.27085164G>C | CA425382074 | EMILIN1 | c.2580G>C (p.Val860=) c.572G>C c.2575+156G>C (n.2575+156G>C) | |
2 | g.27085164G>T | CA425382073 | EMILIN1 | c.2580G>T (p.Val860=) c.572G>T c.2575+156G>T (n.2575+156G>T) | |
2 | g.27085165G>A | CA346155997 | EMILIN1 | c.2581G>A (p.Glu861Lys) c.573G>A c.2575+157G>A (n.2575+157G>A) | |
2 | g.27085165G>C | CA346155998 | EMILIN1 | c.2581G>C (p.Glu861Gln) c.573G>C c.2575+157G>C (n.2575+157G>C) | |
2 | g.27085165G>T | CA346156000 | EMILIN1 | c.2581G>T (p.Glu861Ter) c.573G>T c.2575+157G>T (n.2575+157G>T) | gnomAD v4 |
2 | g.27085166del | CA2658283555 | EMILIN1 | c.2582del (p.Glu861GlyfsTer17) c.574del c.2575+158del (n.2575+158del) | gnomAD v4 |
2 | g.27085166A>C | CA346156003 | EMILIN1 | c.2582A>C (p.Glu861Ala) c.574A>C c.2575+158A>C (n.2575+158A>C) | |
2 | g.27085166A>G | CA346156004 | EMILIN1 | c.2582A>G (p.Glu861Gly) c.574A>G c.2575+158A>G (n.2575+158A>G) | |
2 | g.27085166A>T | CA346156006 | EMILIN1 | c.2582A>T (p.Glu861Val) c.574A>T c.2575+158A>T (n.2575+158A>T) | |
2 | g.27085167G>A | CA425382075 | EMILIN1 | c.2583G>A (p.Glu861=) c.575G>A c.2575+159G>A (n.2575+159G>A) | dbSNP gnomAD v4 |
2 | g.27085167G>C | CA346156008 | EMILIN1 | c.2583G>C (p.Glu861Asp) c.575G>C c.2575+159G>C (n.2575+159G>C) | |
2 | g.27085167G= | CA1240109661 | EMILIN1 | c.2583G= (p.Glu861=) c.575G= c.2575+159G= (n.2575+159G=) | |
2 | g.27085167G>T | CA346156010 | EMILIN1 | c.2583G>T (p.Glu861Asp) c.575G>T c.2575+159G>T (n.2575+159G>T) | |
2 | g.27085171dup | CA2749254987 | EMILIN1 | c.2587dup (p.Ala863GlyfsTer21) c.579dup c.2575+163dup (n.2575+163dup) | |
2 | g.27085168G>A | CA346156012 | EMILIN1 | c.2584G>A (p.Gly862Arg) c.576G>A c.2575+160G>A (n.2575+160G>A) | gnomAD v4 |
2 | g.27085168G>C | CA346156013 | EMILIN1 | c.2584G>C (p.Gly862Arg) c.576G>C c.2575+160G>C (n.2575+160G>C) | |
2 | g.27085168G>T | CA346156015 | EMILIN1 | c.2584G>T (p.Gly862Trp) c.576G>T c.2575+160G>T (n.2575+160G>T) | |
2 | g.27085169G>A | CA346156019 | EMILIN1 | c.2585G>A (p.Gly862Glu) c.577G>A c.2575+161G>A (n.2575+161G>A) | |
2 | g.27085169G>C | CA346156018 | EMILIN1 | c.2585G>C (p.Gly862Ala) c.577G>C c.2575+161G>C (n.2575+161G>C) | |
2 | g.27085169G= | CA1240109662 | EMILIN1 | c.2585G= (p.Gly862=) c.577G= c.2575+161G= (n.2575+161G=) | |
2 | g.27085169G>T | CA346156016 | EMILIN1 | c.2585G>T (p.Gly862Val) c.577G>T c.2575+161G>T (n.2575+161G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085170G>A | CA425382080 | EMILIN1 | c.2586G>A (p.Gly862=) c.578G>A c.2575+162G>A (n.2575+162G>A) | |
2 | g.27085170G>C | CA425382081 | EMILIN1 | c.2586G>C (p.Gly862=) c.578G>C c.2575+162G>C (n.2575+162G>C) | |
2 | g.27085170G>T | CA425382082 | EMILIN1 | c.2586G>T (p.Gly862=) c.578G>T c.2575+162G>T (n.2575+162G>T) | |
2 | g.27085171G>A | CA346156022 | EMILIN1 | c.2587G>A (p.Ala863Thr) c.579G>A c.2575+163G>A (n.2575+163G>A) | dbSNP |
2 | g.27085171G>C | CA346156020 | EMILIN1 | c.2587G>C (p.Ala863Pro) c.579G>C c.2575+163G>C (n.2575+163G>C) | |
2 | g.27085171G= | CA1240109663 | EMILIN1 | c.2587G= (p.Ala863=) c.579G= c.2575+163G= (n.2575+163G=) | |
2 | g.27085171G>T | CA346156021 | EMILIN1 | c.2587G>T (p.Ala863Ser) c.579G>T c.2575+163G>T (n.2575+163G>T) | |
2 | g.27085172C>A | CA346156024 | EMILIN1 | c.2588C>A (p.Ala863Glu) c.580C>A c.2575+164C>A (n.2575+164C>A) | |
2 | g.27085172C= | CA1240109664 | EMILIN1 | c.2588C= (p.Ala863=) c.580C= c.2575+164C= (n.2575+164C=) | |
2 | g.27085172C>G | CA346156026 | EMILIN1 | c.2588C>G (p.Ala863Gly) c.580C>G c.2575+164C>G (n.2575+164C>G) | |
2 | g.27085172C>T | CA1568984 | EMILIN1 | c.2588C>T (p.Ala863Val) c.580C>T c.2575+164C>T (n.2575+164C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085173A= | CA1240109665 | EMILIN1 | c.2589A= (p.Ala863=) c.581A= c.2575+165A= (n.2575+165A=) | |
2 | g.27085173A>C | CA425382087 | EMILIN1 | c.2589A>C (p.Ala863=) c.581A>C c.2575+165A>C (n.2575+165A>C) | dbSNP |
2 | g.27085173A>G | CA425382085 | EMILIN1 | c.2589A>G (p.Ala863=) c.581A>G c.2575+165A>G (n.2575+165A>G) | |
2 | g.27085173A>T | CA425382086 | EMILIN1 | c.2589A>T (p.Ala863=) c.581A>T c.2575+165A>T (n.2575+165A>T) | |
2 | g.27085174C>A | CA346156032 | EMILIN1 | c.2590C>A (p.Pro864Thr) c.582C>A c.2575+166C>A (n.2575+166C>A) | |
2 | g.27085174C>G | CA346156030 | EMILIN1 | c.2590C>G (p.Pro864Ala) c.582C>G c.2575+166C>G (n.2575+166C>G) | |
2 | g.27085174C>T | CA346156029 | EMILIN1 | c.2590C>T (p.Pro864Ser) c.582C>T c.2575+166C>T (n.2575+166C>T) | gnomAD v4 |
2 | g.27085175C>A | CA346156034 | EMILIN1 | c.2591C>A (p.Pro864Gln) c.583C>A c.2575+167C>A (n.2575+167C>A) | |
2 | g.27085175C>G | CA346156036 | EMILIN1 | c.2591C>G (p.Pro864Arg) c.583C>G c.2575+167C>G (n.2575+167C>G) | |
2 | g.27085175C>T | CA346156037 | EMILIN1 | c.2591C>T (p.Pro864Leu) c.583C>T c.2575+167C>T (n.2575+167C>T) | |
2 | g.27085176A>C | CA425382090 | EMILIN1 | c.2592A>C (p.Pro864=) c.584A>C c.2575+168A>C (n.2575+168A>C) | |
2 | g.27085176A>G | CA425382091 | EMILIN1 | c.2592A>G (p.Pro864=) c.584A>G c.2575+168A>G (n.2575+168A>G) | |
2 | g.27085176A>T | CA425382092 | EMILIN1 | c.2592A>T (p.Pro864=) c.584A>T c.2575+168A>T (n.2575+168A>T) | |
2 | g.27085177G>A | CA1568985 | EMILIN1 | c.2593G>A (p.Ala865Thr) c.585G>A c.2575+169G>A (n.2575+169G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085177G>C | CA346156040 | EMILIN1 | c.2593G>C (p.Ala865Pro) c.585G>C c.2575+169G>C (n.2575+169G>C) | |
2 | g.27085177G= | CA1240109666 | EMILIN1 | c.2593G= (p.Ala865=) c.585G= c.2575+169G= (n.2575+169G=) | |
2 | g.27085177G>T | CA346156042 | EMILIN1 | c.2593G>T (p.Ala865Ser) c.585G>T c.2575+169G>T (n.2575+169G>T) | |
2 | g.27085178C>A | CA346156043 | EMILIN1 | c.2594C>A (p.Ala865Glu) c.586C>A c.2575+170C>A (n.2575+170C>A) | |
2 | g.27085178C>G | CA346156046 | EMILIN1 | c.2594C>G (p.Ala865Gly) c.586C>G c.2575+170C>G (n.2575+170C>G) | |
2 | g.27085178C>T | CA346156044 | EMILIN1 | c.2594C>T (p.Ala865Val) c.586C>T c.2575+170C>T (n.2575+170C>T) | |
2 | g.27085179A>C | CA425382094 | EMILIN1 | c.2595A>C (p.Ala865=) c.587A>C c.2575+171A>C (n.2575+171A>C) | |
2 | g.27085179A>G | CA425382095 | EMILIN1 | c.2595A>G (p.Ala865=) c.587A>G c.2575+171A>G (n.2575+171A>G) | |
2 | g.27085179A>T | CA425382096 | EMILIN1 | c.2595A>T (p.Ala865=) c.587A>T c.2575+171A>T (n.2575+171A>T) | |
2 | g.27085180G>A | CA346156048 | EMILIN1 | c.2596G>A (p.Ala866Thr) c.588G>A c.2575+172G>A (n.2575+172G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085180G>C | CA346156049 | EMILIN1 | c.2596G>C (p.Ala866Pro) c.588G>C c.2575+172G>C (n.2575+172G>C) | |
2 | g.27085180G= | CA1240109667 | EMILIN1 | c.2596G= (p.Ala866=) c.588G= c.2575+172G= (n.2575+172G=) | |
2 | g.27085180G>T | CA346156051 | EMILIN1 | c.2596G>T (p.Ala866Ser) c.588G>T c.2575+172G>T (n.2575+172G>T) | |
2 | g.27085185_27085192del | CA2658283573 | EMILIN1 | c.2601_2608del (p.Val868SerfsTer13) c.593_600del c.2575+177_2575+184del (n.2575+177_2575+184del) | gnomAD v4 |
2 | g.27085181C>A | CA346156053 | EMILIN1 | c.2597C>A (p.Ala866Asp) c.589C>A c.2575+173C>A (n.2575+173C>A) | |
2 | g.27085181C= | CA1240109668 | EMILIN1 | c.2597C= (p.Ala866=) c.589C= c.2575+173C= (n.2575+173C=) | |
2 | g.27085181C>G | CA346156054 | EMILIN1 | c.2597C>G (p.Ala866Gly) c.589C>G c.2575+173C>G (n.2575+173C>G) | dbSNP |
2 | g.27085181C>T | CA346156055 | EMILIN1 | c.2597C>T (p.Ala866Val) c.589C>T c.2575+173C>T (n.2575+173C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085182C>A | CA425382098 | EMILIN1 | c.2598C>A (p.Ala866=) c.590C>A c.2575+174C>A (n.2575+174C>A) | |
2 | g.27085182C>G | CA425382099 | EMILIN1 | c.2598C>G (p.Ala866=) c.590C>G c.2575+174C>G (n.2575+174C>G) | |
2 | g.27085182C>T | CA425382101 | EMILIN1 | c.2598C>T (p.Ala866=) c.590C>T c.2575+174C>T (n.2575+174C>T) | |
2 | g.27085183C>A | CA346156056 | EMILIN1 | c.2599C>A (p.Pro867Thr) c.591C>A c.2575+175C>A (n.2575+175C>A) | |
2 | g.27085183C>G | CA346156058 | EMILIN1 | c.2599C>G (p.Pro867Ala) c.591C>G c.2575+175C>G (n.2575+175C>G) | |
2 | g.27085183C>T | CA346156060 | EMILIN1 | c.2599C>T (p.Pro867Ser) c.591C>T c.2575+175C>T (n.2575+175C>T) | gnomAD v4 |
2 | g.27085184C>A | CA346156062 | EMILIN1 | c.2600C>A (p.Pro867His) c.592C>A c.2575+176C>A (n.2575+176C>A) | |
2 | g.27085184C>G | CA346156063 | EMILIN1 | c.2600C>G (p.Pro867Arg) c.592C>G c.2575+176C>G (n.2575+176C>G) | |
2 | g.27085184C>T | CA346156064 | EMILIN1 | c.2600C>T (p.Pro867Leu) c.592C>T c.2575+176C>T (n.2575+176C>T) | |
2 | g.27085185T>A | CA425382105 | EMILIN1 | c.2601T>A (p.Pro867=) c.593T>A c.2575+177T>A (n.2575+177T>A) | gnomAD v4 |
2 | g.27085185T>C | CA425382106 | EMILIN1 | c.2601T>C (p.Pro867=) c.593T>C c.2575+177T>C (n.2575+177T>C) | |
2 | g.27085185T>G | CA425382107 | EMILIN1 | c.2601T>G (p.Pro867=) c.593T>G c.2575+177T>G (n.2575+177T>G) | gnomAD v4 |
2 | g.27085186G>A | CA346156066 | EMILIN1 | c.2602G>A (p.Val868Met) c.594G>A c.2575+178G>A (n.2575+178G>A) | gnomAD v4 |
2 | g.27085186G>C | CA346156067 | EMILIN1 | c.2602G>C (p.Val868Leu) c.594G>C c.2575+178G>C (n.2575+178G>C) | |
2 | g.27085186G>T | CA346156065 | EMILIN1 | c.2602G>T (p.Val868Leu) c.594G>T c.2575+178G>T (n.2575+178G>T) | |
2 | g.27085187T>A | CA1568986 | EMILIN1 | c.2603T>A (p.Val868Glu) c.595T>A c.2575+179T>A (n.2575+179T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085187T>C | CA346156068 | EMILIN1 | c.2603T>C (p.Val868Ala) c.595T>C c.2575+179T>C (n.2575+179T>C) | |
2 | g.27085187T>G | CA346156069 | EMILIN1 | c.2603T>G (p.Val868Gly) c.595T>G c.2575+179T>G (n.2575+179T>G) | |
2 | g.27085187T= | CA1240109669 | EMILIN1 | c.2603T= (p.Val868=) c.595T= c.2575+179T= (n.2575+179T=) | |
2 | g.27085188G>A | CA425382171 | EMILIN1 | c.2604G>A (p.Val868=) c.596G>A c.2575+180G>A (n.2575+180G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085188G>C | CA425382172 | EMILIN1 | c.2604G>C (p.Val868=) c.596G>C c.2575+180G>C (n.2575+180G>C) | gnomAD v4 |
2 | g.27085188G= | CA1240109670 | EMILIN1 | c.2604G= (p.Val868=) c.596G= c.2575+180G= (n.2575+180G=) | |
2 | g.27085188G>T | CA425382173 | EMILIN1 | c.2604G>T (p.Val868=) c.596G>T c.2575+180G>T (n.2575+180G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085189C>A | CA346156070 | EMILIN1 | c.2605C>A (p.Pro869Thr) c.597C>A c.2575+181C>A (n.2575+181C>A) | |
2 | g.27085189C>G | CA346156071 | EMILIN1 | c.2605C>G (p.Pro869Ala) c.597C>G c.2575+181C>G (n.2575+181C>G) | |
2 | g.27085189C>T | CA346156072 | EMILIN1 | c.2605C>T (p.Pro869Ser) c.597C>T c.2575+181C>T (n.2575+181C>T) | |
2 | g.27085190C>A | CA346156075 | EMILIN1 | c.2606C>A (p.Pro869His) c.598C>A c.2575+182C>A (n.2575+182C>A) | |
2 | g.27085190C>G | CA346156074 | EMILIN1 | c.2606C>G (p.Pro869Arg) c.598C>G c.2575+182C>G (n.2575+182C>G) | |
2 | g.27085190C>T | CA346156073 | EMILIN1 | c.2606C>T (p.Pro869Leu) c.598C>T c.2575+182C>T (n.2575+182C>T) | |
2 | g.27085191C>A | CA425382174 | EMILIN1 | c.2607C>A (p.Pro869=) c.599C>A c.2575+183C>A (n.2575+183C>A) | |
2 | g.27085191C= | CA1240109671 | EMILIN1 | c.2607C= (p.Pro869=) c.599C= c.2575+183C= (n.2575+183C=) | |
2 | g.27085191C>G | CA425382175 | EMILIN1 | c.2607C>G (p.Pro869=) c.599C>G c.2575+183C>G (n.2575+183C>G) | dbSNP |
2 | g.27085191C>T | CA425382176 | EMILIN1 | c.2607C>T (p.Pro869=) c.599C>T c.2575+183C>T (n.2575+183C>T) | |
2 | g.27085192C>A | CA346156076 | EMILIN1 | c.2608C>A (p.Gln870Lys) c.600C>A c.2575+184C>A (n.2575+184C>A) | |
2 | g.27085192C>G | CA346156077 | EMILIN1 | c.2608C>G (p.Gln870Glu) c.600C>G c.2575+184C>G (n.2575+184C>G) | |
2 | g.27085192C>T | CA346156078 | EMILIN1 | c.2608C>T (p.Gln870Ter) c.600C>T c.2575+184C>T (n.2575+184C>T) | |
2 | g.27085193A>C | CA346156079 | EMILIN1 | c.2609A>C (p.Gln870Pro) c.601A>C c.2575+185A>C (n.2575+185A>C) | |
2 | g.27085193A>G | CA346156080 | EMILIN1 | c.2609A>G (p.Gln870Arg) c.601A>G c.2575+185A>G (n.2575+185A>G) | dbSNP |
2 | g.27085193A>T | CA346156081 | EMILIN1 | c.2609A>T (p.Gln870Leu) c.601A>T c.2575+185A>T (n.2575+185A>T) | |
2 | g.27085194A= | CA1240109672 | EMILIN1 | c.2610A= (p.Gln870=) c.602A= c.2575+186A= (n.2575+186A=) | |
2 | g.27085194A>C | CA346156082 | EMILIN1 | c.2610A>C (p.Gln870His) c.602A>C c.2575+186A>C (n.2575+186A>C) | |
2 | g.27085194A>G | CA1568987 | EMILIN1 | c.2610A>G (p.Gln870=) c.602A>G c.2575+186A>G (n.2575+186A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085194A>T | CA346156083 | EMILIN1 | c.2610A>T (p.Gln870His) c.602A>T c.2575+186A>T (n.2575+186A>T) | |
2 | g.27085195G>A | CA1568988 | EMILIN1 | c.2611G>A (p.Val871Met) c.603G>A c.2575+187G>A (n.2575+187G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085195G>C | CA346156084 | EMILIN1 | c.2611G>C (p.Val871Leu) c.603G>C c.2575+187G>C (n.2575+187G>C) | |
2 | g.27085195G= | CA1240109673 | EMILIN1 | c.2611G= (p.Val871=) c.603G= c.2575+187G= (n.2575+187G=) | |
2 | g.27085195G>T | CA346156085 | EMILIN1 | c.2611G>T (p.Val871Leu) c.603G>T c.2575+187G>T (n.2575+187G>T) | |
2 | g.27085196T>A | CA346156086 | EMILIN1 | c.2612T>A (p.Val871Glu) c.604T>A c.2575+188T>A (n.2575+188T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085196T>C | CA346156087 | EMILIN1 | c.2612T>C (p.Val871Ala) c.604T>C c.2575+188T>C (n.2575+188T>C) | |
2 | g.27085196T>G | CA346156088 | EMILIN1 | c.2612T>G (p.Val871Gly) c.604T>G c.2575+188T>G (n.2575+188T>G) | |
2 | g.27085196T= | CA1240109674 | EMILIN1 | c.2612T= (p.Val871=) c.604T= c.2575+188T= (n.2575+188T=) | |
2 | g.27085197G>A | CA425382177 | EMILIN1 | c.2613G>A (p.Val871=) c.605G>A c.2575+189G>A (n.2575+189G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085197G>C | CA425382178 | EMILIN1 | c.2613G>C (p.Val871=) c.605G>C c.2575+189G>C (n.2575+189G>C) | |
2 | g.27085197G= | CA1240109675 | EMILIN1 | c.2613G= (p.Val871=) c.605G= c.2575+189G= (n.2575+189G=) | |
2 | g.27085197G>T | CA425382179 | EMILIN1 | c.2613G>T (p.Val871=) c.605G>T c.2575+189G>T (n.2575+189G>T) | |
2 | g.27085198G>A | CA346156090 | EMILIN1 | c.2614G>A (p.Ala872Thr) c.606G>A c.2575+190G>A (n.2575+190G>A) | |
2 | g.27085198G>C | CA346156092 | EMILIN1 | c.2614G>C (p.Ala872Pro) c.606G>C c.2575+190G>C (n.2575+190G>C) | |
2 | g.27085198G>T | CA346156093 | EMILIN1 | c.2614G>T (p.Ala872Ser) c.606G>T c.2575+190G>T (n.2575+190G>T) | |
2 | g.27085199C>A | CA346156095 | EMILIN1 | c.2615C>A (p.Ala872Glu) c.607C>A c.2575+191C>A (n.2575+191C>A) | |
2 | g.27085199C>G | CA346156096 | EMILIN1 | c.2615C>G (p.Ala872Gly) c.607C>G c.2575+191C>G (n.2575+191C>G) | |
2 | g.27085199C>T | CA346156097 | EMILIN1 | c.2615C>T (p.Ala872Val) c.607C>T c.2575+191C>T (n.2575+191C>T) | gnomAD v4 |
2 | g.27085200A>C | CA425382181 | EMILIN1 | c.2616A>C (p.Ala872=) c.608A>C c.2575+192A>C (n.2575+192A>C) | |
2 | g.27085200A>G | CA425382180 | EMILIN1 | c.2616A>G (p.Ala872=) c.608A>G c.2575+192A>G (n.2575+192A>G) | |
2 | g.27085200A>T | CA425382182 | EMILIN1 | c.2616A>T (p.Ala872=) c.608A>T c.2575+192A>T (n.2575+192A>T) | |
2 | g.27085201T>A | CA346156100 | EMILIN1 | c.2617T>A (p.Phe873Ile) c.609T>A c.2575+193T>A (n.2575+193T>A) | |
2 | g.27085201T>C | CA346156102 | EMILIN1 | c.2617T>C (p.Phe873Leu) c.609T>C c.2575+193T>C (n.2575+193T>C) | |
2 | g.27085201T>G | CA346156101 | EMILIN1 | c.2617T>G (p.Phe873Val) c.609T>G c.2575+193T>G (n.2575+193T>G) | |
2 | g.27085202T>A | CA346156104 | EMILIN1 | c.2618T>A (p.Phe873Tyr) c.610T>A c.2575+194T>A (n.2575+194T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085202T>C | CA346156105 | EMILIN1 | c.2618T>C (p.Phe873Ser) c.610T>C c.2575+194T>C (n.2575+194T>C) | |
2 | g.27085202T>G | CA346156107 | EMILIN1 | c.2618T>G (p.Phe873Cys) c.610T>G c.2575+194T>G (n.2575+194T>G) | COSMIC |
2 | g.27085202T= | CA1240109676 | EMILIN1 | c.2618T= (p.Phe873=) c.610T= c.2575+194T= (n.2575+194T=) | |
2 | g.27085203T>A | CA346156109 | EMILIN1 | c.2619T>A (p.Phe873Leu) c.611T>A c.2575+195T>A (n.2575+195T>A) | |
2 | g.27085203T>C | CA425382183 | EMILIN1 | c.2619T>C (p.Phe873=) c.611T>C c.2575+195T>C (n.2575+195T>C) | |
2 | g.27085203T>G | CA346156111 | EMILIN1 | c.2619T>G (p.Phe873Leu) c.611T>G c.2575+195T>G (n.2575+195T>G) | |
2 | g.27085204T>A | CA346156112 | EMILIN1 | c.2620T>A (p.Ser874Thr) c.612T>A c.2575+196T>A (n.2575+196T>A) | |
2 | g.27085204T>C | CA346156114 | EMILIN1 | c.2620T>C (p.Ser874Pro) c.612T>C c.2575+196T>C (n.2575+196T>C) | |
2 | g.27085204T>G | CA346156115 | EMILIN1 | c.2620T>G (p.Ser874Ala) c.612T>G c.2575+196T>G (n.2575+196T>G) | |
2 | g.27085205C>A | CA346156116 | EMILIN1 | c.2621C>A (p.Ser874Ter) c.613C>A c.2575+197C>A (n.2575+197C>A) | |
2 | g.27085205C>G | CA346156118 | EMILIN1 | c.2621C>G (p.Ser874Ter) c.613C>G c.2575+197C>G (n.2575+197C>G) | |
2 | g.27085205C>T | CA346156119 | EMILIN1 | c.2621C>T (p.Ser874Leu) c.613C>T c.2575+197C>T (n.2575+197C>T) | gnomAD v4 |
2 | g.27085206A>C | CA425382184 | EMILIN1 | c.2622A>C (p.Ser874=) c.614A>C c.2575+198A>C (n.2575+198A>C) | |
2 | g.27085206A>G | CA425382185 | EMILIN1 | c.2622A>G (p.Ser874=) c.614A>G c.2575+198A>G (n.2575+198A>G) | |
2 | g.27085206A>T | CA425382186 | EMILIN1 | c.2622A>T (p.Ser874=) c.614A>T c.2575+198A>T (n.2575+198A>T) | |
2 | g.27085207G>A | CA346156123 | EMILIN1 | c.2623G>A (p.Ala875Thr) c.615G>A c.2575+199G>A (n.2575+199G>A) | |
2 | g.27085207G>C | CA346156122 | EMILIN1 | c.2623G>C (p.Ala875Pro) c.615G>C c.2575+199G>C (n.2575+199G>C) | |
2 | g.27085207G>T | CA346156121 | EMILIN1 | c.2623G>T (p.Ala875Ser) c.615G>T c.2575+199G>T (n.2575+199G>T) | |
2 | g.27085208C>A | CA346156124 | EMILIN1 | c.2624C>A (p.Ala875Asp) c.616C>A c.2575+200C>A (n.2575+200C>A) | |
2 | g.27085208C= | CA1240109677 | EMILIN1 | c.2624C= (p.Ala875=) c.616C= c.2575+200C= (n.2575+200C=) | |
2 | g.27085208C>G | CA346156126 | EMILIN1 | c.2624C>G (p.Ala875Gly) c.616C>G c.2575+200C>G (n.2575+200C>G) | |
2 | g.27085208C>T | CA1568989 | EMILIN1 | c.2624C>T (p.Ala875Val) c.616C>T c.2575+200C>T (n.2575+200C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085209T>A | CA425382188 | EMILIN1 | c.2625T>A (p.Ala875=) c.617T>A c.2575+201T>A (n.2575+201T>A) | |
2 | g.27085209T>C | CA1568990 | EMILIN1 | c.2625T>C (p.Ala875=) c.617T>C c.2575+201T>C (n.2575+201T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085209T>G | CA425382189 | EMILIN1 | c.2625T>G (p.Ala875=) c.617T>G c.2575+201T>G (n.2575+201T>G) | |
2 | g.27085209T= | CA1240109678 | EMILIN1 | c.2625T= (p.Ala875=) c.617T= c.2575+201T= (n.2575+201T=) | |
2 | g.27085210G>A | CA346156128 | EMILIN1 | c.2626G>A (p.Ala876Thr) c.618G>A c.2575+202G>A (n.2575+202G>A) | |
2 | g.27085210G>C | CA346156130 | EMILIN1 | c.2626G>C (p.Ala876Pro) c.618G>C c.2575+202G>C (n.2575+202G>C) | |
2 | g.27085210G>T | CA346156131 | EMILIN1 | c.2626G>T (p.Ala876Ser) c.618G>T c.2575+202G>T (n.2575+202G>T) | |
2 | g.27085211C>A | CA346156132 | EMILIN1 | c.2627C>A (p.Ala876Asp) c.619C>A c.2575+203C>A (n.2575+203C>A) | |
2 | g.27085211C>G | CA346156134 | EMILIN1 | c.2627C>G (p.Ala876Gly) c.619C>G c.2575+203C>G (n.2575+203C>G) | |
2 | g.27085211C>T | CA346156135 | EMILIN1 | c.2627C>T (p.Ala876Val) c.619C>T c.2575+203C>T (n.2575+203C>T) | |
2 | g.27085212T>A | CA425382190 | EMILIN1 | c.2628T>A (p.Ala876=) c.620T>A c.2575+204T>A (n.2575+204T>A) | |
2 | g.27085212T>C | CA425382191 | EMILIN1 | c.2628T>C (p.Ala876=) c.620T>C c.2575+204T>C (n.2575+204T>C) | |
2 | g.27085212T>G | CA425382192 | EMILIN1 | c.2628T>G (p.Ala876=) c.620T>G c.2575+204T>G (n.2575+204T>G) | |
2 | g.27085213C>A | CA346156136 | EMILIN1 | c.2629C>A (p.Leu877Met) c.621C>A c.2575+205C>A (n.2575+205C>A) | |
2 | g.27085213C= | CA1240109679 | EMILIN1 | c.2629C= (p.Leu877=) c.621C= c.2575+205C= (n.2575+205C=) | |
2 | g.27085213C>G | CA1568991 | EMILIN1 | c.2629C>G (p.Leu877Val) c.621C>G c.2575+205C>G (n.2575+205C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085213C>T | CA425382193 | EMILIN1 | c.2629C>T (p.Leu877=) c.621C>T c.2575+205C>T (n.2575+205C>T) | gnomAD v4 |
2 | g.27085214T>A | CA346156139 | EMILIN1 | c.2630T>A (p.Leu877Gln) c.622T>A c.2575+206T>A (n.2575+206T>A) | |
2 | g.27085214T>C | CA346156143 | EMILIN1 | c.2630T>C (p.Leu877Pro) c.622T>C c.2575+206T>C (n.2575+206T>C) | |
2 | g.27085214T>G | CA346156140 | EMILIN1 | c.2630T>G (p.Leu877Arg) c.622T>G c.2575+206T>G (n.2575+206T>G) | gnomAD v4 |
2 | g.27085214dup | CA2658283613 | EMILIN1 | c.2630dup (p.Ser878GlufsTer6) c.622dup c.2575+206dup (n.2575+206dup) | gnomAD v4 |
2 | g.27085215G>A | CA425382194 | EMILIN1 | c.2631G>A (p.Leu877=) c.623G>A c.2575+207G>A (n.2575+207G>A) | gnomAD v4 |
2 | g.27085215G>C | CA425382195 | EMILIN1 | c.2631G>C (p.Leu877=) c.623G>C c.2575+207G>C (n.2575+207G>C) | |
2 | g.27085215G>T | CA425382196 | EMILIN1 | c.2631G>T (p.Leu877=) c.623G>T c.2575+207G>T (n.2575+207G>T) | |
2 | g.27085216A= | CA1240109680 | EMILIN1 | c.2632A= (p.Ser878=) c.624A= c.2575+208A= (n.2575+208A=) | |
2 | g.27085216A>C | CA346156148 | EMILIN1 | c.2632A>C (p.Ser878Arg) c.624A>C c.2575+208A>C (n.2575+208A>C) | gnomAD v4 |
2 | g.27085216A>G | CA346156151 | EMILIN1 | c.2632A>G (p.Ser878Gly) c.624A>G c.2575+208A>G (n.2575+208A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085216A>T | CA346156150 | EMILIN1 | c.2632A>T (p.Ser878Cys) c.624A>T c.2575+208A>T (n.2575+208A>T) | |
2 | g.27085217G>A | CA1568992 | EMILIN1 | c.2633G>A (p.Ser878Asn) c.625G>A c.2575+209G>A (n.2575+209G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085217G>C | CA346156155 | EMILIN1 | c.2633G>C (p.Ser878Thr) c.625G>C c.2575+209G>C (n.2575+209G>C) | |
2 | g.27085217G= | CA1240109681 | EMILIN1 | c.2633G= (p.Ser878=) c.625G= c.2575+209G= (n.2575+209G=) | |
2 | g.27085217G>T | CA346156153 | EMILIN1 | c.2633G>T (p.Ser878Ile) c.625G>T c.2575+209G>T (n.2575+209G>T) | |
2 | g.27085218T>A | CA346156157 | EMILIN1 | c.2634T>A (p.Ser878Arg) c.626T>A c.2575+210T>A (n.2575+210T>A) | |
2 | g.27085218T>C | CA425382198 | EMILIN1 | c.2634T>C (p.Ser878=) c.626T>C c.2575+210T>C (n.2575+210T>C) | |
2 | g.27085218T>G | CA346156159 | EMILIN1 | c.2634T>G (p.Ser878Arg) c.626T>G c.2575+210T>G (n.2575+210T>G) | |
2 | g.27085219T>A | CA346156160 | EMILIN1 | c.2635T>A (p.Leu879Met) c.627T>A c.2575+211T>A (n.2575+211T>A) | |
2 | g.27085219T>C | CA425382199 | EMILIN1 | c.2635T>C (p.Leu879=) c.627T>C c.2575+211T>C (n.2575+211T>C) | |
2 | g.27085219T>G | CA346156161 | EMILIN1 | c.2635T>G (p.Leu879Val) c.627T>G c.2575+211T>G (n.2575+211T>G) | |
2 | g.27085220T>A | CA346156162 | EMILIN1 | c.2636T>A (p.Leu879Ter) c.628T>A c.2575+212T>A (n.2575+212T>A) | |
2 | g.27085220T>C | CA346156164 | EMILIN1 | c.2636T>C (p.Leu879Ser) c.628T>C c.2575+212T>C (n.2575+212T>C) | |
2 | g.27085220T>G | CA346156166 | EMILIN1 | c.2636T>G (p.Leu879Trp) c.628T>G c.2575+212T>G (n.2575+212T>G) | |
2 | g.27085220_27085221delinsTG | CA1240109682 | EMILIN1 | c.2636_2637delinsTG (p.Leu879=) c.628_629delinsTG c.2575+212_2575+213delinsTG (n.2575+212_2575+213delinsTG) | |
2 | g.27085221del | CA1240109683 | EMILIN1 | c.2637del (p.Leu879PhefsTer?) c.629del c.2575+213del (n.2575+213del) | dbSNP |
2 | g.27085221G>A | CA1568993 | EMILIN1 | c.2637G>A (p.Leu879=) c.629G>A c.2575+213G>A (n.2575+213G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085221G>C | CA346156169 | EMILIN1 | c.2637G>C (p.Leu879Phe) c.629G>C c.2575+213G>C (n.2575+213G>C) | |
2 | g.27085221G= | CA1240109684 | EMILIN1 | c.2637G= (p.Leu879=) c.629G= c.2575+213G= (n.2575+213G=) | |
2 | g.27085221G>T | CA1568994 | EMILIN1 | c.2637G>T (p.Leu879Phe) c.629G>T c.2575+213G>T (n.2575+213G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085222C>A | CA346156171 | EMILIN1 | c.2638C>A (p.Pro880Thr) c.630C>A c.2575+214C>A (n.2575+214C>A) | |
2 | g.27085222C= | CA1240109685 | EMILIN1 | c.2638C= (p.Pro880=) c.630C= c.2575+214C= (n.2575+214C=) | |
2 | g.27085222C>G | CA346156173 | EMILIN1 | c.2638C>G (p.Pro880Ala) c.630C>G c.2575+214C>G (n.2575+214C>G) | |
2 | g.27085222C>T | CA346156175 | EMILIN1 | c.2638C>T (p.Pro880Ser) c.630C>T c.2575+214C>T (n.2575+214C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085223C>A | CA346156176 | EMILIN1 | c.2639C>A (p.Pro880His) c.631C>A c.2575+215C>A (n.2575+215C>A) | |
2 | g.27085223C= | CA1240109686 | EMILIN1 | c.2639C= (p.Pro880=) c.631C= c.2575+215C= (n.2575+215C=) | |
2 | g.27085223C>G | CA346156178 | EMILIN1 | c.2639C>G (p.Pro880Arg) c.631C>G c.2575+215C>G (n.2575+215C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085223C>T | CA346156180 | EMILIN1 | c.2639C>T (p.Pro880Leu) c.631C>T c.2575+215C>T (n.2575+215C>T) | gnomAD v4 |
2 | g.27085224C>A | CA425382202 | EMILIN1 | c.2640C>A (p.Pro880=) c.632C>A c.2575+216C>A (n.2575+216C>A) | |
2 | g.27085224C>G | CA425382201 | EMILIN1 | c.2640C>G (p.Pro880=) c.632C>G c.2575+216C>G (n.2575+216C>G) | gnomAD v4 |
2 | g.27085224C>T | CA425382200 | EMILIN1 | c.2640C>T (p.Pro880=) c.632C>T c.2575+216C>T (n.2575+216C>T) |