Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48503818T>A | CA392338073 | FBN1 | c.2082A>T (p.Glu694Asp) n.756A>T c.637-29168A>T (n.637-29168A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48503818T>C | CA046705 | FBN1 | c.2082A>G (p.Glu694=) n.756A>G c.637-29168A>G (n.637-29168A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503818T>G | CA392338076 | FBN1 | c.2082A>C (p.Glu694Asp) n.756A>C c.637-29168A>C (n.637-29168A>C) | dbSNP |
15 | g.48503818T= | CA2175526469 | FBN1 | c.2082A= (p.Glu694=) n.756A= c.637-29168A= (n.637-29168A=) | |
15 | g.48503819T>A | CA392338086 | FBN1 | c.2081A>T (p.Glu694Val) n.755A>T c.637-29169A>T (n.637-29169A>T) | |
15 | g.48503819T>C | CA392338089 | FBN1 | c.2081A>G (p.Glu694Gly) n.755A>G c.637-29169A>G (n.637-29169A>G) | |
15 | g.48503819T>G | CA392338090 | FBN1 | c.2081A>C (p.Glu694Ala) n.755A>C c.637-29169A>C (n.637-29169A>C) | |
15 | g.48503820C>A | CA16614667 | FBN1 | c.2080G>T (p.Glu694Ter) n.754G>T c.637-29170G>T (n.637-29170G>T) | ClinVar dbSNP COSMIC |
15 | g.48503820C= | CA2175526474 | FBN1 | c.2080G= (p.Glu694=) n.754G= c.637-29170G= (n.637-29170G=) | |
15 | g.48503820C>G | CA392338096 | FBN1 | c.2080G>C (p.Glu694Gln) n.754G>C c.637-29170G>C (n.637-29170G>C) | |
15 | g.48503820C>T | CA392338099 | FBN1 | c.2080G>A (p.Glu694Lys) n.754G>A c.637-29170G>A (n.637-29170G>A) | |
15 | g.48503821C>A | CA490024171 | FBN1 | c.2079G>T (p.Gly693=) n.753G>T c.637-29171G>T (n.637-29171G>T) | |
15 | g.48503821C= | CA2175526482 | FBN1 | c.2079G= (p.Gly693=) n.753G= c.637-29171G= (n.637-29171G=) | |
15 | g.48503821C>G | CA490024172 | FBN1 | c.2079G>C (p.Gly693=) n.753G>C c.637-29171G>C (n.637-29171G>C) | |
15 | g.48503821C>T | CA046680 | FBN1 | c.2079G>A (p.Gly693=) n.753G>A c.637-29171G>A (n.637-29171G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503822C>A | CA392338104 | FBN1 | c.2078G>T (p.Gly693Val) n.752G>T c.637-29172G>T (n.637-29172G>T) | |
15 | g.48503822C= | CA2175526485 | FBN1 | c.2078G= (p.Gly693=) n.752G= c.637-29172G= (n.637-29172G=) | |
15 | g.48503822C>G | CA392338108 | FBN1 | c.2078G>C (p.Gly693Ala) n.752G>C c.637-29172G>C (n.637-29172G>C) | |
15 | g.48503822C>T | CA046669 | FBN1 | c.2078G>A (p.Gly693Glu) n.752G>A c.637-29172G>A (n.637-29172G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48503823C>A | CA392338122 | FBN1 | c.2077G>T (p.Gly693Trp) n.751G>T c.637-29173G>T (n.637-29173G>T) | |
15 | g.48503823C>G | CA392338116 | FBN1 | c.2077G>C (p.Gly693Arg) n.751G>C c.637-29173G>C (n.637-29173G>C) | |
15 | g.48503823C>T | CA392338118 | FBN1 | c.2077G>A (p.Gly693Arg) n.751G>A c.637-29173G>A (n.637-29173G>A) | |
15 | g.48503824A= | CA2175526488 | FBN1 | c.2076T= (p.Phe692=) n.750T= c.637-29174T= (n.637-29174T=) | |
15 | g.48503824A>C | CA392338126 | FBN1 | c.2076T>G (p.Phe692Leu) n.750T>G c.637-29174T>G (n.637-29174T>G) | |
15 | g.48503824A>G | CA046657 | FBN1 | c.2076T>C (p.Phe692=) n.750T>C c.637-29174T>C (n.637-29174T>C) | dbSNP ExAC gnomAD v2 |
15 | g.48503824A>T | CA392338131 | FBN1 | c.2076T>A (p.Phe692Leu) n.750T>A c.637-29174T>A (n.637-29174T>A) | |
15 | g.48503825A= | CA2175526492 | FBN1 | c.2075T= (p.Phe692=) n.749T= c.637-29175T= (n.637-29175T=) | |
15 | g.48503825A>C | CA392338136 | FBN1 | c.2075T>G (p.Phe692Cys) n.749T>G c.637-29175T>G (n.637-29175T>G) | ClinVar dbSNP |
15 | g.48503825A>G | CA392338139 | FBN1 | c.2075T>C (p.Phe692Ser) n.749T>C c.637-29175T>C (n.637-29175T>C) | |
15 | g.48503825A>T | CA269548916 | FBN1 | c.2075T>A (p.Phe692Tyr) n.749T>A c.637-29175T>A (n.637-29175T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503826A>C | CA392338143 | FBN1 | c.2074T>G (p.Phe692Val) n.748T>G c.637-29176T>G (n.637-29176T>G) | |
15 | g.48503826A>G | CA392338146 | FBN1 | c.2074T>C (p.Phe692Leu) n.748T>C c.637-29176T>C (n.637-29176T>C) | |
15 | g.48503826A>T | CA392338148 | FBN1 | c.2074T>A (p.Phe692Ile) n.748T>A c.637-29176T>A (n.637-29176T>A) | |
15 | g.48503827T>A | CA490024174 | FBN1 | c.2073A>T (p.Ala691=) n.747A>T c.637-29177A>T (n.637-29177A>T) | |
15 | g.48503827T>C | CA490024175 | FBN1 | c.2073A>G (p.Ala691=) n.747A>G c.637-29177A>G (n.637-29177A>G) | |
15 | g.48503827T>G | CA490024173 | FBN1 | c.2073A>C (p.Ala691=) n.747A>C c.637-29177A>C (n.637-29177A>C) | |
15 | g.48503828G>A | CA392338153 | FBN1 | c.2072C>T (p.Ala691Val) n.746C>T c.637-29178C>T (n.637-29178C>T) | |
15 | g.48503828G>C | CA392338154 | FBN1 | c.2072C>G (p.Ala691Gly) n.746C>G c.637-29178C>G (n.637-29178C>G) | |
15 | g.48503828G>T | CA392338162 | FBN1 | c.2072C>A (p.Ala691Glu) n.746C>A c.637-29178C>A (n.637-29178C>A) | |
15 | g.48503829C>A | CA392338167 | FBN1 | c.2071G>T (p.Ala691Ser) n.745G>T c.637-29179G>T (n.637-29179G>T) | |
15 | g.48503829C= | CA2175526498 | FBN1 | c.2071G= (p.Ala691=) n.745G= c.637-29179G= (n.637-29179G=) | |
15 | g.48503829C>G | CA012772 | FBN1 | c.2071G>C (p.Ala691Pro) n.745G>C c.637-29179G>C (n.637-29179G>C) | ClinVar dbSNP |
15 | g.48503829C>T | CA392338165 | FBN1 | c.2071G>A (p.Ala691Thr) n.745G>A c.637-29179G>A (n.637-29179G>A) | |
15 | g.48503830A>C | CA392338174 | FBN1 | c.2070T>G (p.Tyr690Ter) n.744T>G c.637-29180T>G (n.637-29180T>G) | |
15 | g.48503830A>G | CA490024176 | FBN1 | c.2070T>C (p.Tyr690=) n.744T>C c.637-29180T>C (n.637-29180T>C) | |
15 | g.48503830A>T | CA392338171 | FBN1 | c.2070T>A (p.Tyr690Ter) n.744T>A c.637-29180T>A (n.637-29180T>A) | |
15 | g.48503831T>A | CA392338182 | FBN1 | c.2069A>T (p.Tyr690Phe) n.743A>T c.637-29181A>T (n.637-29181A>T) | |
15 | g.48503831T>C | CA392338179 | FBN1 | c.2069A>G (p.Tyr690Cys) n.743A>G c.637-29181A>G (n.637-29181A>G) | gnomAD v4 |
15 | g.48503831T>G | CA392338183 | FBN1 | c.2069A>C (p.Tyr690Ser) n.743A>C c.637-29181A>C (n.637-29181A>C) | |
15 | g.48503832A>C | CA392338187 | FBN1 | c.2068T>G (p.Tyr690Asp) n.742T>G c.637-29182T>G (n.637-29182T>G) |