Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27085105G>A | CA1240109629 | EMILIN1 | c.2576-55G>A (n.2576-55G>A) c.568-55G>A c.2575+97G>A (n.2575+97G>A) | dbSNP |
2 | g.27085105G>C | CA767343608 | EMILIN1 | c.2576-55G>C (n.2576-55G>C) c.568-55G>C c.2575+97G>C (n.2575+97G>C) | dbSNP gnomAD v4 |
2 | g.27085105G= | CA1240109630 | EMILIN1 | c.2576-55G= (n.2576-55G=) c.568-55G= c.2575+97G= (n.2575+97G=) | |
2 | g.27085109dup | CA2749254983 | EMILIN1 | c.2576-51dup (n.2576-51dup) c.568-51dup c.2575+101dup (n.2575+101dup) | |
2 | g.27085108_27085109dup | CA2749254984 | EMILIN1 | c.2576-52_2576-51dup (n.2576-52_2576-51dup) c.568-52_568-51dup c.2575+100_2575+101dup (n.2575+100_2575+101dup) | |
2 | g.27085106G>A | CA2658283490 | EMILIN1 | c.2576-54G>A (n.2576-54G>A) c.568-54G>A c.2575+98G>A (n.2575+98G>A) | gnomAD v4 |
2 | g.27085107G>A | CA2749254985 | EMILIN1 | c.2576-53G>A (n.2576-53G>A) c.568-53G>A c.2575+99G>A (n.2575+99G>A) | |
2 | g.27085107G>C | CA2658283493 | EMILIN1 | c.2576-53G>C (n.2576-53G>C) c.568-53G>C c.2575+99G>C (n.2575+99G>C) | gnomAD v4 |
2 | g.27085107G= | CA1240109631 | EMILIN1 | c.2576-53G= (n.2576-53G=) c.568-53G= c.2575+99G= (n.2575+99G=) | |
2 | g.27085107G>T | CA1028653141 | EMILIN1 | c.2576-53G>T (n.2576-53G>T) c.568-53G>T c.2575+99G>T (n.2575+99G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085108G>A | CA531422423 | EMILIN1 | c.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 |
2 | g.27085108G= | CA1240109632 | EMILIN1 | c.2576-52G= (n.2576-52G=) c.568-52G= c.2575+100G= (n.2575+100G=) | |
2 | g.27085108G>T | CA767343627 | EMILIN1 | c.2576-52G>T (n.2576-52G>T) c.568-52G>T c.2575+100G>T (n.2575+100G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085109G>A | CA2658283500 | EMILIN1 | c.2576-51G>A (n.2576-51G>A) c.568-51G>A c.2575+101G>A (n.2575+101G>A) | gnomAD v4 |
2 | g.27085113G>A | CA2658283503 | EMILIN1 | c.2576-47G>A (n.2576-47G>A) c.568-47G>A c.2575+105G>A (n.2575+105G>A) | gnomAD v4 |
2 | g.27085113G>C | CA1240109634 | EMILIN1 | c.2576-47G>C (n.2576-47G>C) c.568-47G>C c.2575+105G>C (n.2575+105G>C) | dbSNP gnomAD v3 |
2 | g.27085113G= | CA1240109633 | EMILIN1 | c.2576-47G= (n.2576-47G=) c.568-47G= c.2575+105G= (n.2575+105G=) | |
2 | g.27085115A= | CA1240109636 | EMILIN1 | c.2576-45A= (n.2576-45A=) c.568-45A= c.2575+107A= (n.2575+107A=) | |
2 | g.27085115A>C | CA1240109635 | EMILIN1 | c.2576-45A>C (n.2576-45A>C) c.568-45A>C c.2575+107A>C (n.2575+107A>C) | dbSNP |
2 | g.27085115_27085116delinsAC | CA1240109637 | EMILIN1 | c.2576-45_2576-44delinsAC (n.2576-45_2576-44delinsAC) c.568-45_568-44delinsAC c.2575+107_2575+108delinsAC (n.2575+107_2575+108delinsAC) | |
2 | g.27085116del | CA767343631 | EMILIN1 | c.2576-44del (n.2576-44del) c.568-44del c.2575+108del (n.2575+108del) | dbSNP gnomAD v4 |
2 | g.27085120G>A | CA2658283507 | EMILIN1 | c.2576-40G>A (n.2576-40G>A) c.568-40G>A c.2575+112G>A (n.2575+112G>A) | gnomAD v4 |
2 | g.27085120G>T | CA2658283506 | EMILIN1 | c.2576-40G>T (n.2576-40G>T) c.568-40G>T c.2575+112G>T (n.2575+112G>T) | gnomAD v4 |
2 | g.27085121C= | CA1240109638 | EMILIN1 | c.2576-39C= (n.2576-39C=) c.568-39C= c.2575+113C= (n.2575+113C=) | |
2 | g.27085121C>T | CA1568977 | EMILIN1 | c.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 |
2 | g.27085122C= | CA1240109639 | EMILIN1 | c.2576-38C= (n.2576-38C=) c.568-38C= c.2575+114C= (n.2575+114C=) | |
2 | g.27085122C>T | CA1240109640 | EMILIN1 | c.2576-38C>T (n.2576-38C>T) c.568-38C>T c.2575+114C>T (n.2575+114C>T) | dbSNP gnomAD v4 |
2 | g.27085123C>G | CA2658283513 | EMILIN1 | c.2576-37C>G (n.2576-37C>G) c.568-37C>G c.2575+115C>G (n.2575+115C>G) | gnomAD v4 |
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) |