Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.27085225C>A | CA425382203 | EMILIN1 | c.2641C>A (p.Arg881=) c.633C>A c.2575+217C>A (n.2575+217C>A) | |
2 | g.27085225C= | CA1240109687 | EMILIN1 | c.2641C= (p.Arg881=) c.633C= c.2575+217C= (n.2575+217C=) | |
2 | g.27085225C>G | CA346156183 | EMILIN1 | c.2641C>G (p.Arg881Gly) c.633C>G c.2575+217C>G (n.2575+217C>G) | |
2 | g.27085225C>T | CA346156181 | EMILIN1 | c.2641C>T (p.Arg881Trp) c.633C>T c.2575+217C>T (n.2575+217C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085226G>A | CA1568995 | EMILIN1 | c.2642G>A (p.Arg881Gln) c.634G>A c.2575+218G>A (n.2575+218G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085226G>C | CA346156186 | EMILIN1 | c.2642G>C (p.Arg881Pro) c.634G>C c.2575+218G>C (n.2575+218G>C) | |
2 | g.27085226G= | CA1240109688 | EMILIN1 | c.2642G= (p.Arg881=) c.634G= c.2575+218G= (n.2575+218G=) | |
2 | g.27085226G>T | CA346156187 | EMILIN1 | c.2642G>T (p.Arg881Leu) c.634G>T c.2575+218G>T (n.2575+218G>T) | gnomAD v4 |
2 | g.27085227G>A | CA425382204 | EMILIN1 | c.2643G>A (p.Arg881=) c.635G>A c.2575+219G>A (n.2575+219G>A) | |
2 | g.27085227G>C | CA425382206 | EMILIN1 | c.2643G>C (p.Arg881=) c.635G>C c.2575+219G>C (n.2575+219G>C) | |
2 | g.27085227G>T | CA425382205 | EMILIN1 | c.2643G>T (p.Arg881=) c.635G>T c.2575+219G>T (n.2575+219G>T) | |
2 | g.27085228T>A | CA346156189 | EMILIN1 | c.2644T>A (p.Ser882Thr) c.636T>A c.2575+220T>A (n.2575+220T>A) | |
2 | g.27085228T>C | CA346156191 | EMILIN1 | c.2644T>C (p.Ser882Pro) c.636T>C c.2575+220T>C (n.2575+220T>C) | |
2 | g.27085228T>G | CA346156192 | EMILIN1 | c.2644T>G (p.Ser882Ala) c.636T>G c.2575+220T>G (n.2575+220T>G) | |
2 | g.27085229C>A | CA346156194 | EMILIN1 | c.2645C>A (p.Ser882Tyr) c.637C>A c.2575+221C>A (n.2575+221C>A) | gnomAD v4 |
2 | g.27085229C>G | CA346156195 | EMILIN1 | c.2645C>G (p.Ser882Cys) c.637C>G c.2575+221C>G (n.2575+221C>G) | |
2 | g.27085229C>T | CA346156197 | EMILIN1 | c.2645C>T (p.Ser882Phe) c.637C>T c.2575+221C>T (n.2575+221C>T) | |
2 | g.27085230T>A | CA425382208 | EMILIN1 | c.2646T>A (p.Ser882=) c.638T>A c.2575+222T>A (n.2575+222T>A) | |
2 | g.27085230T>C | CA425382209 | EMILIN1 | c.2646T>C (p.Ser882=) c.638T>C c.2575+222T>C (n.2575+222T>C) | |
2 | g.27085230T>G | CA425382210 | EMILIN1 | c.2646T>G (p.Ser882=) c.638T>G c.2575+222T>G (n.2575+222T>G) | |
2 | g.27085231G>A | CA346156199 | EMILIN1 | c.2647G>A (p.Glu883Lys) c.639G>A c.2575+223G>A (n.2575+223G>A) | |
2 | g.27085231G>C | CA1568996 | EMILIN1 | c.2647G>C (p.Glu883Gln) c.639G>C c.2575+223G>C (n.2575+223G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085231G= | CA1240109689 | EMILIN1 | c.2647G= (p.Glu883=) c.639G= c.2575+223G= (n.2575+223G=) | |
2 | g.27085231G>T | CA346156200 | EMILIN1 | c.2647G>T (p.Glu883Ter) c.639G>T c.2575+223G>T (n.2575+223G>T) | |
2 | g.27085232A= | CA1240109690 | EMILIN1 | c.2648A= (p.Glu883=) c.640A= c.2575+224A= (n.2575+224A=) | |
2 | g.27085232A>C | CA1568997 | EMILIN1 | c.2648A>C (p.Glu883Ala) c.640A>C c.2575+224A>C (n.2575+224A>C) | dbSNP ExAC gnomAD v2 |
2 | g.27085232A>G | CA346156203 | EMILIN1 | c.2648A>G (p.Glu883Gly) c.640A>G c.2575+224A>G (n.2575+224A>G) | |
2 | g.27085232A>T | CA346156201 | EMILIN1 | c.2648A>T (p.Glu883Val) c.640A>T c.2575+224A>T (n.2575+224A>T) | |
2 | g.27085233A= | CA1240109691 | EMILIN1 | c.2649A= (p.Glu883=) c.641A= c.2575+225A= (n.2575+225A=) | |
2 | g.27085233A>C | CA346156205 | EMILIN1 | c.2649A>C (p.Glu883Asp) c.641A>C c.2575+225A>C (n.2575+225A>C) | |
2 | g.27085233A>G | CA425382212 | EMILIN1 | c.2649A>G (p.Glu883=) c.641A>G c.2575+225A>G (n.2575+225A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085233A>T | CA346156206 | EMILIN1 | c.2649A>T (p.Glu883Asp) c.641A>T c.2575+225A>T (n.2575+225A>T) | |
2 | g.27085234C>A | CA346156208 | EMILIN1 | c.2650C>A (p.Pro884Thr) c.642C>A c.2575+226C>A (n.2575+226C>A) | |
2 | g.27085234C= | CA1240109692 | EMILIN1 | c.2650C= (p.Pro884=) c.642C= c.2575+226C= (n.2575+226C=) | |
2 | g.27085234C>G | CA346156210 | EMILIN1 | c.2650C>G (p.Pro884Ala) c.642C>G c.2575+226C>G (n.2575+226C>G) | |
2 | g.27085234C>T | CA44468548 | EMILIN1 | c.2650C>T (p.Pro884Ser) c.642C>T c.2575+226C>T (n.2575+226C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085235C>A | CA346156212 | EMILIN1 | c.2651C>A (p.Pro884Gln) c.643C>A c.2575+227C>A (n.2575+227C>A) | |
2 | g.27085235C>G | CA346156214 | EMILIN1 | c.2651C>G (p.Pro884Arg) c.643C>G c.2575+227C>G (n.2575+227C>G) | |
2 | g.27085235C>T | CA346156216 | EMILIN1 | c.2651C>T (p.Pro884Leu) c.643C>T c.2575+227C>T (n.2575+227C>T) | gnomAD v4 |
2 | g.27085236A= | CA1240109693 | EMILIN1 | c.2652A= (p.Pro884=) c.644A= c.2575+228A= (n.2575+228A=) | |
2 | g.27085236A>C | CA425382214 | EMILIN1 | c.2652A>C (p.Pro884=) c.644A>C c.2575+228A>C (n.2575+228A>C) | |
2 | g.27085236A>G | CA425382215 | EMILIN1 | c.2652A>G (p.Pro884=) c.644A>G c.2575+228A>G (n.2575+228A>G) | dbSNP |
2 | g.27085236A>T | CA425382216 | EMILIN1 | c.2652A>T (p.Pro884=) c.644A>T c.2575+228A>T (n.2575+228A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085237G>A | CA346156218 | EMILIN1 | c.2653G>A (p.Gly885Ser) c.645G>A c.2575+229G>A (n.2575+229G>A) | |
2 | g.27085237G>C | CA346156219 | EMILIN1 | c.2653G>C (p.Gly885Arg) c.645G>C c.2575+229G>C (n.2575+229G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085237G= | CA1240109694 | EMILIN1 | c.2653G= (p.Gly885=) c.645G= c.2575+229G= (n.2575+229G=) | |
2 | g.27085237G>T | CA346156221 | EMILIN1 | c.2653G>T (p.Gly885Cys) c.645G>T c.2575+229G>T (n.2575+229G>T) | |
2 | g.27085238G>A | CA1568998 | EMILIN1 | c.2654G>A (p.Gly885Asp) c.646G>A c.2575+230G>A (n.2575+230G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085238G>C | CA346156224 | EMILIN1 | c.2654G>C (p.Gly885Ala) c.646G>C c.2575+230G>C (n.2575+230G>C) | |
2 | g.27085238G= | CA1240109695 | EMILIN1 | c.2654G= (p.Gly885=) c.646G= c.2575+230G= (n.2575+230G=) | |
2 | g.27085238G>T | CA346156223 | EMILIN1 | c.2654G>T (p.Gly885Val) c.646G>T c.2575+230G>T (n.2575+230G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085239C>A | CA425382217 | EMILIN1 | c.2655C>A (p.Gly885=) c.647C>A c.2575+231C>A (n.2575+231C>A) | |
2 | g.27085239C>G | CA425382218 | EMILIN1 | c.2655C>G (p.Gly885=) c.647C>G c.2575+231C>G (n.2575+231C>G) | |
2 | g.27085239C>T | CA425382220 | EMILIN1 | c.2655C>T (p.Gly885=) c.647C>T c.2575+231C>T (n.2575+231C>T) | |
2 | g.27085240A>C | CA346156226 | EMILIN1 | c.2656A>C (p.Thr886Pro) c.648A>C c.2575+232A>C (n.2575+232A>C) | |
2 | g.27085240A>G | CA346156228 | EMILIN1 | c.2656A>G (p.Thr886Ala) c.648A>G c.2575+232A>G (n.2575+232A>G) | |
2 | g.27085240A>T | CA346156230 | EMILIN1 | c.2656A>T (p.Thr886Ser) c.648A>T c.2575+232A>T (n.2575+232A>T) | |
2 | g.27085241C>A | CA346156231 | EMILIN1 | c.2657C>A (p.Thr886Lys) c.649C>A c.2575+233C>A (n.2575+233C>A) | |
2 | g.27085241C= | CA1240109696 | EMILIN1 | c.2657C= (p.Thr886=) c.649C= c.2575+233C= (n.2575+233C=) | |
2 | g.27085241C>G | CA346156232 | EMILIN1 | c.2657C>G (p.Thr886Arg) c.649C>G c.2575+233C>G (n.2575+233C>G) | |
2 | g.27085241C>T | CA1568999 | EMILIN1 | c.2657C>T (p.Thr886Met) c.649C>T c.2575+233C>T (n.2575+233C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085242G>A | CA1569000 | EMILIN1 | c.2658G>A (p.Thr886=) c.650G>A c.2575+234G>A (n.2575+234G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085242G>C | CA425382222 | EMILIN1 | c.2658G>C (p.Thr886=) c.650G>C c.2575+234G>C (n.2575+234G>C) | |
2 | g.27085242G= | CA1240109697 | EMILIN1 | c.2658G= (p.Thr886=) c.650G= c.2575+234G= (n.2575+234G=) | |
2 | g.27085242G>T | CA425382221 | EMILIN1 | c.2658G>T (p.Thr886=) c.650G>T c.2575+234G>T (n.2575+234G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085243G>A | CA346156236 | EMILIN1 | c.2659G>A (p.Val887Ile) c.651G>A c.2575+235G>A (n.2575+235G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085243G>C | CA346156237 | EMILIN1 | c.2659G>C (p.Val887Leu) c.651G>C c.2575+235G>C (n.2575+235G>C) | |
2 | g.27085243G= | CA1240109698 | EMILIN1 | c.2659G= (p.Val887=) c.651G= c.2575+235G= (n.2575+235G=) | |
2 | g.27085243G>T | CA346156239 | EMILIN1 | c.2659G>T (p.Val887Phe) c.651G>T c.2575+235G>T (n.2575+235G>T) | |
2 | g.27085244T>A | CA346156242 | EMILIN1 | c.2660T>A (p.Val887Asp) c.652T>A c.2575+236T>A (n.2575+236T>A) | |
2 | g.27085244T>C | CA346156243 | EMILIN1 | c.2660T>C (p.Val887Ala) c.652T>C c.2575+236T>C (n.2575+236T>C) | |
2 | g.27085244T>G | CA346156245 | EMILIN1 | c.2660T>G (p.Val887Gly) c.652T>G c.2575+236T>G (n.2575+236T>G) | gnomAD v4 |
2 | g.27085245C>A | CA425382224 | EMILIN1 | c.2661C>A (p.Val887=) c.653C>A c.2575+237C>A (n.2575+237C>A) | |
2 | g.27085245C= | CA1240109699 | EMILIN1 | c.2661C= (p.Val887=) c.653C= c.2575+237C= (n.2575+237C=) | |
2 | g.27085245C>G | CA425382225 | EMILIN1 | c.2661C>G (p.Val887=) c.653C>G c.2575+237C>G (n.2575+237C>G) | |
2 | g.27085245C>T | CA1569001 | EMILIN1 | c.2661C>T (p.Val887=) c.653C>T c.2575+237C>T (n.2575+237C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085246C>A | CA346156249 | EMILIN1 | c.2662C>A (p.Pro888Thr) c.654C>A c.2575+238C>A (n.2575+238C>A) | |
2 | g.27085246C>G | CA346156247 | EMILIN1 | c.2662C>G (p.Pro888Ala) c.654C>G c.2575+238C>G (n.2575+238C>G) | |
2 | g.27085246C>T | CA346156250 | EMILIN1 | c.2662C>T (p.Pro888Ser) c.654C>T c.2575+238C>T (n.2575+238C>T) | gnomAD v4 |
2 | g.27085246_27085247delinsTT | CA645530558 | EMILIN1 | c.2662_2663delinsTT (p.Pro888Phe) c.654_655delinsTT c.2575+238_2575+239delinsTT (n.2575+238_2575+239delinsTT) | COSMIC |
2 | g.27085247C>A | CA346156252 | EMILIN1 | c.2663C>A (p.Pro888His) c.655C>A c.2575+239C>A (n.2575+239C>A) | |
2 | g.27085247C>G | CA346156253 | EMILIN1 | c.2663C>G (p.Pro888Arg) c.655C>G c.2575+239C>G (n.2575+239C>G) | |
2 | g.27085247C>T | CA346156255 | EMILIN1 | c.2663C>T (p.Pro888Leu) c.655C>T c.2575+239C>T (n.2575+239C>T) | gnomAD v4 |
2 | g.27085248C>A | CA425382228 | EMILIN1 | c.2664C>A (p.Pro888=) c.656C>A c.2575+240C>A (n.2575+240C>A) | COSMIC |
2 | g.27085248C>G | CA425382226 | EMILIN1 | c.2664C>G (p.Pro888=) c.656C>G c.2575+240C>G (n.2575+240C>G) | |
2 | g.27085248C>T | CA425382227 | EMILIN1 | c.2664C>T (p.Pro888=) c.656C>T c.2575+240C>T (n.2575+240C>T) | |
2 | g.27085249T>A | CA346156257 | EMILIN1 | c.2665T>A (p.Phe889Ile) c.657T>A c.2575+241T>A (n.2575+241T>A) | |
2 | g.27085249T>C | CA346156259 | EMILIN1 | c.2665T>C (p.Phe889Leu) c.657T>C c.2575+241T>C (n.2575+241T>C) | |
2 | g.27085249T>G | CA346156260 | EMILIN1 | c.2665T>G (p.Phe889Val) c.657T>G c.2575+241T>G (n.2575+241T>G) | gnomAD v4 |
2 | g.27085250T>A | CA346156261 | EMILIN1 | c.2666T>A (p.Phe889Tyr) c.658T>A c.2575+242T>A (n.2575+242T>A) | |
2 | g.27085250T>C | CA346156263 | EMILIN1 | c.2666T>C (p.Phe889Ser) c.658T>C c.2575+242T>C (n.2575+242T>C) | |
2 | g.27085250T>G | CA346156265 | EMILIN1 | c.2666T>G (p.Phe889Cys) c.658T>G c.2575+242T>G (n.2575+242T>G) | |
2 | g.27085251C>A | CA346156266 | EMILIN1 | c.2667C>A (p.Phe889Leu) c.659C>A c.2575+243C>A (n.2575+243C>A) | |
2 | g.27085251C>G | CA346156267 | EMILIN1 | c.2667C>G (p.Phe889Leu) c.659C>G c.2575+243C>G (n.2575+243C>G) | gnomAD v4 |
2 | g.27085251C>T | CA425382229 | EMILIN1 | c.2667C>T (p.Phe889=) c.659C>T c.2575+243C>T (n.2575+243C>T) | |
2 | g.27085252G>A | CA346156273 | EMILIN1 | c.2668G>A (p.Asp890Asn) c.660G>A c.2575+244G>A (n.2575+244G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085252G>C | CA346156271 | EMILIN1 | c.2668G>C (p.Asp890His) c.660G>C c.2575+244G>C (n.2575+244G>C) | |
2 | g.27085252G= | CA1240109700 | EMILIN1 | c.2668G= (p.Asp890=) c.660G= c.2575+244G= (n.2575+244G=) | |
2 | g.27085252G>T | CA346156269 | EMILIN1 | c.2668G>T (p.Asp890Tyr) c.660G>T c.2575+244G>T (n.2575+244G>T) | |
2 | g.27085253A>C | CA346156274 | EMILIN1 | c.2669A>C (p.Asp890Ala) c.661A>C c.2575+245A>C (n.2575+245A>C) | |
2 | g.27085253A>G | CA346156275 | EMILIN1 | c.2669A>G (p.Asp890Gly) c.661A>G c.2575+245A>G (n.2575+245A>G) | gnomAD v4 |
2 | g.27085253A>T | CA346156277 | EMILIN1 | c.2669A>T (p.Asp890Val) c.661A>T c.2575+245A>T (n.2575+245A>T) | |
2 | g.27085254C>A | CA346156279 | EMILIN1 | c.2670C>A (p.Asp890Glu) c.662C>A c.2575+246C>A (n.2575+246C>A) | |
2 | g.27085254C>G | CA346156280 | EMILIN1 | c.2670C>G (p.Asp890Glu) c.662C>G c.2575+246C>G (n.2575+246C>G) | |
2 | g.27085254C>T | CA425382231 | EMILIN1 | c.2670C>T (p.Asp890=) c.662C>T c.2575+246C>T (n.2575+246C>T) | |
2 | g.27085254_27085256delinsCAG | CA1240109701 | EMILIN1 | c.2670_2672delinsCAG (p.Asp890=) c.662_664delinsCAG c.2575+246_2575+248delinsCAG (n.2575+246_2575+248delinsCAG) | |
2 | g.27085255A>C | CA425382232 | EMILIN1 | c.2671A>C (p.Arg891=) c.663A>C c.2575+247A>C (n.2575+247A>C) | |
2 | g.27085255A>G | CA346156282 | EMILIN1 | c.2671A>G (p.Arg891Gly) c.663A>G c.2575+247A>G (n.2575+247A>G) | gnomAD v4 |
2 | g.27085255A>T | CA346156283 | EMILIN1 | c.2671A>T (p.Arg891Ter) c.663A>T c.2575+247A>T (n.2575+247A>T) | |
2 | g.27085257_27085258del | CA531422476 | EMILIN1 | c.2673_2674del (p.Arg891SerfsTer5) c.665_666del c.2575+249_2575+250del (n.2575+249_2575+250del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085256G>A | CA346156286 | EMILIN1 | c.2672G>A (p.Arg891Lys) c.664G>A c.2575+248G>A (n.2575+248G>A) | |
2 | g.27085256G>C | CA346156287 | EMILIN1 | c.2672G>C (p.Arg891Thr) c.664G>C c.2575+248G>C (n.2575+248G>C) | |
2 | g.27085256G>T | CA346156288 | EMILIN1 | c.2672G>T (p.Arg891Ile) c.664G>T c.2575+248G>T (n.2575+248G>T) | |
2 | g.27085257A= | CA1240109702 | EMILIN1 | c.2673A= (p.Arg891=) c.665A= c.2575+249A= (n.2575+249A=) | |
2 | g.27085257A>C | CA346156291 | EMILIN1 | c.2673A>C (p.Arg891Ser) c.665A>C c.2575+249A>C (n.2575+249A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085257A>G | CA425382236 | EMILIN1 | c.2673A>G (p.Arg891=) c.665A>G c.2575+249A>G (n.2575+249A>G) | |
2 | g.27085257A>T | CA346156295 | EMILIN1 | c.2673A>T (p.Arg891Ser) c.665A>T c.2575+249A>T (n.2575+249A>T) | |
2 | g.27085258G>A | CA346156300 | EMILIN1 | c.2674G>A (p.Val892Ile) c.666G>A c.2575+250G>A (n.2575+250G>A) | gnomAD v4 |
2 | g.27085258G>C | CA346156298 | EMILIN1 | c.2674G>C (p.Val892Leu) c.666G>C c.2575+250G>C (n.2575+250G>C) | |
2 | g.27085258G>T | CA346156297 | EMILIN1 | c.2674G>T (p.Val892Phe) c.666G>T c.2575+250G>T (n.2575+250G>T) | |
2 | g.27085259T>A | CA346156303 | EMILIN1 | c.2675T>A (p.Val892Asp) c.667T>A c.2575+251T>A (n.2575+251T>A) | |
2 | g.27085259T>C | CA346156304 | EMILIN1 | c.2675T>C (p.Val892Ala) c.667T>C c.2575+251T>C (n.2575+251T>C) | |
2 | g.27085259T>G | CA346156305 | EMILIN1 | c.2675T>G (p.Val892Gly) c.667T>G c.2575+251T>G (n.2575+251T>G) | |
2 | g.27085260C>A | CA425382238 | EMILIN1 | c.2676C>A (p.Val892=) c.668C>A c.2575+252C>A (n.2575+252C>A) | COSMIC |
2 | g.27085260C>G | CA425382239 | EMILIN1 | c.2676C>G (p.Val892=) c.668C>G c.2575+252C>G (n.2575+252C>G) | gnomAD v4 |
2 | g.27085260C>T | CA425382240 | EMILIN1 | c.2676C>T (p.Val892=) c.668C>T c.2575+252C>T (n.2575+252C>T) | |
2 | g.27085261C>A | CA346156307 | EMILIN1 | c.2677C>A (p.Leu893Met) c.669C>A c.2575+253C>A (n.2575+253C>A) | |
2 | g.27085261C>G | CA346156309 | EMILIN1 | c.2677C>G (p.Leu893Val) c.669C>G c.2575+253C>G (n.2575+253C>G) | |
2 | g.27085261C>T | CA425382241 | EMILIN1 | c.2677C>T (p.Leu893=) c.669C>T c.2575+253C>T (n.2575+253C>T) | |
2 | g.27085262T>A | CA346156314 | EMILIN1 | c.2678T>A (p.Leu893Gln) c.670T>A c.2575+254T>A (n.2575+254T>A) | |
2 | g.27085262T>C | CA346156313 | EMILIN1 | c.2678T>C (p.Leu893Pro) c.670T>C c.2575+254T>C (n.2575+254T>C) | dbSNP |
2 | g.27085262T>G | CA346156311 | EMILIN1 | c.2678T>G (p.Leu893Arg) c.670T>G c.2575+254T>G (n.2575+254T>G) | |
2 | g.27085262T= | CA1240109703 | EMILIN1 | c.2678T= (p.Leu893=) c.670T= c.2575+254T= (n.2575+254T=) | |
2 | g.27085263G>A | CA425382244 | EMILIN1 | c.2679G>A (p.Leu893=) c.671G>A c.2575+255G>A (n.2575+255G>A) | gnomAD v4 |
2 | g.27085263G>C | CA425382245 | EMILIN1 | c.2679G>C (p.Leu893=) c.671G>C c.2575+255G>C (n.2575+255G>C) | gnomAD v4 |
2 | g.27085263G>T | CA425382246 | EMILIN1 | c.2679G>T (p.Leu893=) c.671G>T c.2575+255G>T (n.2575+255G>T) | gnomAD v4 |
2 | g.27085264C>A | CA346156315 | EMILIN1 | c.2680C>A (p.Leu894Ile) c.672C>A c.2575+256C>A (n.2575+256C>A) | dbSNP |
2 | g.27085264C= | CA1240109704 | EMILIN1 | c.2680C= (p.Leu894=) c.672C= c.2575+256C= (n.2575+256C=) | |
2 | g.27085264C>G | CA346156316 | EMILIN1 | c.2680C>G (p.Leu894Val) c.672C>G c.2575+256C>G (n.2575+256C>G) | |
2 | g.27085264C>T | CA346156318 | EMILIN1 | c.2680C>T (p.Leu894Phe) c.672C>T c.2575+256C>T (n.2575+256C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085265T>A | CA346156320 | EMILIN1 | c.2681T>A (p.Leu894His) c.673T>A c.2575+257T>A (n.2575+257T>A) | |
2 | g.27085265T>C | CA346156322 | EMILIN1 | c.2681T>C (p.Leu894Pro) c.673T>C c.2575+257T>C (n.2575+257T>C) | |
2 | g.27085265T>G | CA346156323 | EMILIN1 | c.2681T>G (p.Leu894Arg) c.673T>G c.2575+257T>G (n.2575+257T>G) | |
2 | g.27085266C>A | CA425382250 | EMILIN1 | c.2682C>A (p.Leu894=) c.674C>A c.2575+258C>A (n.2575+258C>A) | gnomAD v4 |
2 | g.27085266C>G | CA425382251 | EMILIN1 | c.2682C>G (p.Leu894=) c.674C>G c.2575+258C>G (n.2575+258C>G) | |
2 | g.27085266C>T | CA425382252 | EMILIN1 | c.2682C>T (p.Leu894=) c.674C>T c.2575+258C>T (n.2575+258C>T) | |
2 | g.27085267A= | CA1240109705 | EMILIN1 | c.2683A= (p.Asn895=) c.675A= c.2575+259A= (n.2575+259A=) | |
2 | g.27085267A>C | CA346156325 | EMILIN1 | c.2683A>C (p.Asn895His) c.675A>C c.2575+259A>C (n.2575+259A>C) | |
2 | g.27085267A>G | CA346156328 | EMILIN1 | c.2683A>G (p.Asn895Asp) c.675A>G c.2575+259A>G (n.2575+259A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085267A>T | CA346156327 | EMILIN1 | c.2683A>T (p.Asn895Tyr) c.675A>T c.2575+259A>T (n.2575+259A>T) | |
2 | g.27085268A= | CA1240109706 | EMILIN1 | c.2684A= (p.Asn895=) c.676A= c.2575+260A= (n.2575+260A=) | |
2 | g.27085268A>C | CA346156330 | EMILIN1 | c.2684A>C (p.Asn895Thr) c.676A>C c.2575+260A>C (n.2575+260A>C) | |
2 | g.27085268A>G | CA346156331 | EMILIN1 | c.2684A>G (p.Asn895Ser) c.676A>G c.2575+260A>G (n.2575+260A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27085268A>T | CA346156333 | EMILIN1 | c.2684A>T (p.Asn895Ile) c.676A>T c.2575+260A>T (n.2575+260A>T) | |
2 | g.27085269T>A | CA346156335 | EMILIN1 | c.2685T>A (p.Asn895Lys) c.677T>A c.2575+261T>A (n.2575+261T>A) | |
2 | g.27085269T>C | CA425382257 | EMILIN1 | c.2685T>C (p.Asn895=) c.677T>C c.2575+261T>C (n.2575+261T>C) | |
2 | g.27085269T>G | CA346156337 | EMILIN1 | c.2685T>G (p.Asn895Lys) c.677T>G c.2575+261T>G (n.2575+261T>G) | |
2 | g.27085270G>A | CA346156338 | EMILIN1 | c.2686G>A (p.Asp896Asn) c.678G>A c.2575+262G>A (n.2575+262G>A) | gnomAD v4 |
2 | g.27085270G>C | CA346156339 | EMILIN1 | c.2686G>C (p.Asp896His) c.678G>C c.2575+262G>C (n.2575+262G>C) | |
2 | g.27085270G>T | CA346156341 | EMILIN1 | c.2686G>T (p.Asp896Tyr) c.678G>T c.2575+262G>T (n.2575+262G>T) | |
2 | g.27085271A>C | CA346156343 | EMILIN1 | c.2687A>C (p.Asp896Ala) c.679A>C c.2575+263A>C (n.2575+263A>C) | |
2 | g.27085271A>G | CA346156345 | EMILIN1 | c.2687A>G (p.Asp896Gly) c.679A>G c.2575+263A>G (n.2575+263A>G) | |
2 | g.27085271A>T | CA346156346 | EMILIN1 | c.2687A>T (p.Asp896Val) c.679A>T c.2575+263A>T (n.2575+263A>T) | |
2 | g.27085271dup | CA2658283701 | EMILIN1 | c.2687dup (p.Asp896GlufsTer6) c.679dup c.2575+263dup (n.2575+263dup) | gnomAD v4 |
2 | g.27085272T>A | CA346156349 | EMILIN1 | c.2688T>A (p.Asp896Glu) c.680T>A c.2575+264T>A (n.2575+264T>A) | |
2 | g.27085272T>C | CA425382262 | EMILIN1 | c.2688T>C (p.Asp896=) c.680T>C c.2575+264T>C (n.2575+264T>C) | gnomAD v4 |
2 | g.27085272T>G | CA346156348 | EMILIN1 | c.2688T>G (p.Asp896Glu) c.680T>G c.2575+264T>G (n.2575+264T>G) | |
2 | g.27085273G>A | CA346156351 | EMILIN1 | c.2689G>A (p.Gly897Arg) c.681G>A c.2575+265G>A (n.2575+265G>A) | gnomAD v4 |
2 | g.27085273G>C | CA346156353 | EMILIN1 | c.2689G>C (p.Gly897Arg) c.681G>C c.2575+265G>C (n.2575+265G>C) | |
2 | g.27085273G>T | CA346156354 | EMILIN1 | c.2689G>T (p.Gly897Ter) c.681G>T c.2575+265G>T (n.2575+265G>T) | |
2 | g.27085274G>A | CA346156356 | EMILIN1 | c.2690G>A (p.Gly897Glu) c.682G>A c.2575+266G>A (n.2575+266G>A) | gnomAD v4 |
2 | g.27085274G>C | CA346156358 | EMILIN1 | c.2690G>C (p.Gly897Ala) c.682G>C c.2575+266G>C (n.2575+266G>C) | |
2 | g.27085274G>T | CA346156359 | EMILIN1 | c.2690G>T (p.Gly897Val) c.682G>T c.2575+266G>T (n.2575+266G>T) | |
2 | g.27085275A>C | CA425382267 | EMILIN1 | c.2691A>C (p.Gly897=) c.683A>C c.2575+267A>C (n.2575+267A>C) | |
2 | g.27085275A>G | CA425382270 | EMILIN1 | c.2691A>G (p.Gly897=) c.683A>G c.2575+267A>G (n.2575+267A>G) | |
2 | g.27085275A>T | CA425382268 | EMILIN1 | c.2691A>T (p.Gly897=) c.683A>T c.2575+267A>T (n.2575+267A>T) | |
2 | g.27085276G>A | CA346156362 | EMILIN1 | c.2692G>A (p.Gly898Ser) c.684G>A c.2575+268G>A (n.2575+268G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27085276G>C | CA346156361 | EMILIN1 | c.2692G>C (p.Gly898Arg) c.684G>C c.2575+268G>C (n.2575+268G>C) | gnomAD v4 |
2 | g.27085276G= | CA1240109707 | EMILIN1 | c.2692G= (p.Gly898=) c.684G= c.2575+268G= (n.2575+268G=) | |
2 | g.27085276G>T | CA346156360 | EMILIN1 | c.2692G>T (p.Gly898Cys) c.684G>T c.2575+268G>T (n.2575+268G>T) | |
2 | g.27085277G>A | CA1569002 | EMILIN1 | c.2693G>A (p.Gly898Asp) c.685G>A c.2575+269G>A (n.2575+269G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27085277G>C | CA346156366 | EMILIN1 | c.2693G>C (p.Gly898Ala) c.685G>C c.2575+269G>C (n.2575+269G>C) | |
2 | g.27085277G= | CA1240109708 | EMILIN1 | c.2693G= (p.Gly898=) c.685G= c.2575+269G= (n.2575+269G=) | |
2 | g.27085277G>T | CA1569003 | EMILIN1 | c.2693G>T (p.Gly898Val) c.685G>T c.2575+269G>T (n.2575+269G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27085278C>A | CA425382272 | EMILIN1 | c.2694C>A (p.Gly898=) c.686C>A c.2575+270C>A (n.2575+270C>A) | |
2 | g.27085278C>G | CA425382273 | EMILIN1 | c.2694C>G (p.Gly898=) c.686C>G c.2575+270C>G (n.2575+270C>G) | |
2 | g.27085278C>T | CA425382274 | EMILIN1 | c.2694C>T (p.Gly898=) c.686C>T c.2575+270C>T (n.2575+270C>T) | |
2 | g.27085279T>A | CA346156368 | EMILIN1 | c.2695T>A (p.Tyr899Asn) c.687T>A c.2575+271T>A (n.2575+271T>A) | |
2 | g.27085279T>C | CA346156370 | EMILIN1 | c.2695T>C (p.Tyr899His) c.687T>C c.2575+271T>C (n.2575+271T>C) | |
2 | g.27085279T>G | CA346156372 | EMILIN1 | c.2695T>G (p.Tyr899Asp) c.687T>G c.2575+271T>G (n.2575+271T>G) | |
2 | g.27085280A= | CA1240109709 | EMILIN1 | c.2696A= (p.Tyr899=) c.688A= c.2575+272A= (n.2575+272A=) | |
2 | g.27085280A>C | CA346156377 | EMILIN1 | c.2696A>C (p.Tyr899Ser) c.688A>C c.2575+272A>C (n.2575+272A>C) | |
2 | g.27085280A>G | CA346156373 | EMILIN1 | c.2696A>G (p.Tyr899Cys) c.688A>G c.2575+272A>G (n.2575+272A>G) | dbSNP gnomAD v4 |
2 | g.27085280A>T | CA346156375 | EMILIN1 | c.2696A>T (p.Tyr899Phe) c.688A>T c.2575+272A>T (n.2575+272A>T) | |
2 | g.27085281T>A | CA346156378 | EMILIN1 | c.2697T>A (p.Tyr899Ter) c.689T>A c.2575+273T>A (n.2575+273T>A) | |
2 | g.27085281T>C | CA425382278 | EMILIN1 | c.2697T>C (p.Tyr899=) c.689T>C c.2575+273T>C (n.2575+273T>C) | |
2 | g.27085281T>G | CA346156379 | EMILIN1 | c.2697T>G (p.Tyr899Ter) c.689T>G c.2575+273T>G (n.2575+273T>G) |