UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 15 | g.48503832A>G | CA392338191 | FBN1 | c.2068T>C (p.Tyr690His) n.742T>C c.637-29182T>C (n.637-29182T>C) | |
| 15 | g.48503832A>T | CA392338195 | FBN1 | c.2068T>A (p.Tyr690Asn) n.742T>A c.637-29182T>A (n.637-29182T>A) | |
| 15 | g.48503833C>A | CA392338200 | FBN1 | c.2067G>T (p.Glu689Asp) n.741G>T c.637-29183G>T (n.637-29183G>T) | |
| 15 | g.48503833C= | CA2175526500 | FBN1 | c.2067G= (p.Glu689=) n.741G= c.637-29183G= (n.637-29183G=) | |
| 15 | g.48503833C>G | CA392338203 | FBN1 | c.2067G>C (p.Glu689Asp) n.741G>C c.637-29183G>C (n.637-29183G>C) | |
| 15 | g.48503833C>T | CA490024177 | FBN1 | c.2067G>A (p.Glu689=) n.741G>A c.637-29183G>A (n.637-29183G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503834T>A | CA392338207 | FBN1 | c.2066A>T (p.Glu689Val) n.740A>T c.637-29184A>T (n.637-29184A>T) | |
| 15 | g.48503834T>C | CA392338210 | FBN1 | c.2066A>G (p.Glu689Gly) n.740A>G c.637-29184A>G (n.637-29184A>G) | |
| 15 | g.48503834T>G | CA392338211 | FBN1 | c.2066A>C (p.Glu689Ala) n.740A>C c.637-29184A>C (n.637-29184A>C) | COSMIC |
| 15 | g.48503835C>A | CA392338214 | FBN1 | c.2065G>T (p.Glu689Ter) n.739G>T c.637-29185G>T (n.637-29185G>T) | |
| 15 | g.48503835C>G | CA392338216 | FBN1 | c.2065G>C (p.Glu689Gln) n.739G>C c.637-29185G>C (n.637-29185G>C) | |
| 15 | g.48503835C>T | CA392338219 | FBN1 | c.2065G>A (p.Glu689Lys) n.739G>A c.637-29185G>A (n.637-29185G>A) | |
| 15 | g.48503836A>C | CA490024178 | FBN1 | c.2064T>G (p.Thr688=) n.738T>G c.637-29186T>G (n.637-29186T>G) | ClinVar |
| 15 | g.48503836A>G | CA490024179 | FBN1 | c.2064T>C (p.Thr688=) n.738T>C c.637-29186T>C (n.637-29186T>C) | |
| 15 | g.48503836A>T | CA490024180 | FBN1 | c.2064T>A (p.Thr688=) n.738T>A c.637-29186T>A (n.637-29186T>A) | |
| 15 | g.48503836_48503837del | CA2740096671 | FBN1 | c.2063_2064del (p.Thr688ArgfsTer?) n.737_738del c.637-29187_637-29186del (n.637-29187_637-29186del) | ClinVar |
| 15 | g.48503836_48503842delinsAGTGCTG | CA2175526503 | FBN1 | c.2058_2064delinsCAGCACT (p.Ala686=) n.732_738delinsCAGCACT c.637-29192_637-29186delinsCAGCACT (n.637-29192_637-29186delinsCAGCACT) | |
| 15 | g.48503837G>A | CA392338228 | FBN1 | c.2063C>T (p.Thr688Ile) n.737C>T c.637-29187C>T (n.637-29187C>T) | |
| 15 | g.48503837G>C | CA392338225 | FBN1 | c.2063C>G (p.Thr688Ser) n.737C>G c.637-29187C>G (n.637-29187C>G) | |
| 15 | g.48503837G= | CA2175526507 | FBN1 | c.2063C= (p.Thr688=) n.737C= c.637-29187C= (n.637-29187C=) | |
| 15 | g.48503837G>T | CA392338223 | FBN1 | c.2063C>A (p.Thr688Asn) n.737C>A c.637-29187C>A (n.637-29187C>A) | ClinVar dbSNP |
| 15 | g.48503838_48503843del | CA012763 | FBN1 | c.2058_2063del (p.Ser687_Thr688del) n.732_737del c.637-29192_637-29187del (n.637-29192_637-29187del) | ClinVar dbSNP |
| 15 | g.48503838T>A | CA392338231 | FBN1 | c.2062A>T (p.Thr688Ser) n.736A>T c.637-29188A>T (n.637-29188A>T) | |
| 15 | g.48503838T>C | CA392338233 | FBN1 | c.2062A>G (p.Thr688Ala) n.736A>G c.637-29188A>G (n.637-29188A>G) | dbSNP gnomAD v4 |
| 15 | g.48503838T>G | CA392338234 | FBN1 | c.2062A>C (p.Thr688Pro) n.736A>C c.637-29188A>C (n.637-29188A>C) | |
| 15 | g.48503838T= | CA2175526516 | FBN1 | c.2062A= (p.Thr688=) n.736A= c.637-29188A= (n.637-29188A=) | |
| 15 | g.48503839G>A | CA490024181 | FBN1 | c.2061C>T (p.Ser687=) n.735C>T c.637-29189C>T (n.637-29189C>T) | |
| 15 | g.48503839G>C | CA392338235 | FBN1 | c.2061C>G (p.Ser687Arg) n.735C>G c.637-29189C>G (n.637-29189C>G) | |
| 15 | g.48503839G>T | CA392338236 | FBN1 | c.2061C>A (p.Ser687Arg) n.735C>A c.637-29189C>A (n.637-29189C>A) | |
| 15 | g.48503840C>A | CA392338239 | FBN1 | c.2060G>T (p.Ser687Ile) n.734G>T c.637-29190G>T (n.637-29190G>T) | |
| 15 | g.48503840C>G | CA392338241 | FBN1 | c.2060G>C (p.Ser687Thr) n.734G>C c.637-29190G>C (n.637-29190G>C) | |
| 15 | g.48503840C>T | CA392338243 | FBN1 | c.2060G>A (p.Ser687Asn) n.734G>A c.637-29190G>A (n.637-29190G>A) | |
| 15 | g.48503841T>A | CA392338248 | FBN1 | c.2059A>T (p.Ser687Cys) n.733A>T c.637-29191A>T (n.637-29191A>T) | |
| 15 | g.48503841T>C | CA392338251 | FBN1 | c.2059A>G (p.Ser687Gly) n.733A>G c.637-29191A>G (n.637-29191A>G) | dbSNP COSMIC |
| 15 | g.48503841T>G | CA392338254 | FBN1 | c.2059A>C (p.Ser687Arg) n.733A>C c.637-29191A>C (n.637-29191A>C) | |
| 15 | g.48503841T= | CA2175526519 | FBN1 | c.2059A= (p.Ser687=) n.733A= c.637-29191A= (n.637-29191A=) | |
| 15 | g.48503842G>A | CA490024182 | FBN1 | c.2058C>T (p.Ala686=) n.732C>T c.637-29192C>T (n.637-29192C>T) | |
| 15 | g.48503842G>C | CA490024183 | FBN1 | c.2058C>G (p.Ala686=) n.732C>G c.637-29192C>G (n.637-29192C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503842G= | CA2175526524 | FBN1 | c.2058C= (p.Ala686=) n.732C= c.637-29192C= (n.637-29192C=) | |
| 15 | g.48503842G>T | CA046647 | FBN1 | c.2058C>A (p.Ala686=) n.732C>A c.637-29192C>A (n.637-29192C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503842_48503848del | CA2695220766 | FBN1 | c.2052_2058del (p.Cys684Ter) n.726_732del c.637-29198_637-29192del (n.637-29198_637-29192del) | |
| 15 | g.48503843G>A | CA392338264 | FBN1 | c.2057C>T (p.Ala686Val) n.731C>T c.637-29193C>T (n.637-29193C>T) | dbSNP |
| 15 | g.48503843G>C | CA392338263 | FBN1 | c.2057C>G (p.Ala686Gly) n.731C>G c.637-29193C>G (n.637-29193C>G) | |
| 15 | g.48503843G= | CA2175526529 | FBN1 | c.2057C= (p.Ala686=) n.731C= c.637-29193C= (n.637-29193C=) | |
| 15 | g.48503843G>T | CA012756 | FBN1 | c.2057C>A (p.Ala686Asp) n.731C>A c.637-29193C>A (n.637-29193C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503844C>A | CA392338273 | FBN1 | c.2056G>T (p.Ala686Ser) n.730G>T c.637-29194G>T (n.637-29194G>T) | |
| 15 | g.48503844C= | CA2175526539 | FBN1 | c.2056G= (p.Ala686=) n.730G= c.637-29194G= (n.637-29194G=) | |
| 15 | g.48503844C>G | CA392338269 | FBN1 | c.2056G>C (p.Ala686Pro) n.730G>C c.637-29194G>C (n.637-29194G>C) | |
| 15 | g.48503844C>T | CA012746 | FBN1 | c.2056G>A (p.Ala686Thr) n.730G>A c.637-29194G>A (n.637-29194G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503845G>A | CA012737 | FBN1 | c.2055C>T (p.Cys685=) n.729C>T c.637-29195C>T (n.637-29195C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503845G>C | CA012728 | FBN1 | c.2055C>G (p.Cys685Trp) n.729C>G c.637-29195C>G (n.637-29195C>G) | ClinVar dbSNP |
| 15 | g.48503845G= | CA2175526550 | FBN1 | c.2055C= (p.Cys685=) n.729C= c.637-29195C= (n.637-29195C=) | |
| 15 | g.48503845G>T | CA012720 | FBN1 | c.2055C>A (p.Cys685Ter) n.729C>A c.637-29195C>A (n.637-29195C>A) | ClinVar dbSNP |
| 15 | g.48503848_48503853del | CA2695220767 | FBN1 | c.2050_2055del (p.Cys684_Cys685del) n.724_729del c.637-29200_637-29195del (n.637-29200_637-29195del) | |
| 15 | g.48503846C>A | CA392338282 | FBN1 | c.2054G>T (p.Cys685Phe) n.728G>T c.637-29196G>T (n.637-29196G>T) | |
| 15 | g.48503846C= | CA2175526567 | FBN1 | c.2054G= (p.Cys685=) n.728G= c.637-29196G= (n.637-29196G=) | |
| 15 | g.48503846C>G | CA392338286 | FBN1 | c.2054G>C (p.Cys685Ser) n.728G>C c.637-29196G>C (n.637-29196G>C) | |
| 15 | g.48503846C>T | CA392338288 | FBN1 | c.2054G>A (p.Cys685Tyr) n.728G>A c.637-29196G>A (n.637-29196G>A) | ClinVar dbSNP |
| 15 | g.48503846dup | CA2573150775 | FBN1 | c.2054dup (p.Cys685TrpfsTer5) n.728dup c.637-29196dup (n.637-29196dup) | ClinVar dbSNP |
| 15 | g.48503846_48503850dup | CA16619971 | FBN1 | c.2050_2054dup (p.Ala686ValfsTer?) n.724_728dup c.637-29200_637-29196dup (n.637-29200_637-29196dup) | ClinVar dbSNP |
| 15 | g.48503847A= | CA2175526575 | FBN1 | c.2053T= (p.Cys685=) n.727T= c.637-29197T= (n.637-29197T=) | |
| 15 | g.48503847A>C | CA392338291 | FBN1 | c.2053T>G (p.Cys685Gly) n.727T>G c.637-29197T>G (n.637-29197T>G) | |
| 15 | g.48503847A>G | CA392338294 | FBN1 | c.2053T>C (p.Cys685Arg) n.727T>C c.637-29197T>C (n.637-29197T>C) | ClinVar dbSNP |
| 15 | g.48503847A>T | CA392338297 | FBN1 | c.2053T>A (p.Cys685Ser) n.727T>A c.637-29197T>A (n.637-29197T>A) | ClinVar dbSNP |
| 15 | g.48503848A>C | CA392338302 | FBN1 | c.2052T>G (p.Cys684Trp) n.726T>G c.637-29198T>G (n.637-29198T>G) | |
| 15 | g.48503848A>G | CA490024184 | FBN1 | c.2052T>C (p.Cys684=) n.726T>C c.637-29198T>C (n.637-29198T>C) | |
| 15 | g.48503848A>T | CA392338303 | FBN1 | c.2052T>A (p.Cys684Ter) n.726T>A c.637-29198T>A (n.637-29198T>A) | |
| 15 | g.48503854_48503872del | CA1139532474 | FBN1 | c.2034_2052del (p.Thr679AlafsTer?) n.708_726del c.637-29216_637-29198del (n.637-29216_637-29198del) | ClinVar |
| 15 | g.48503849C>A | CA392338312 | FBN1 | c.2051G>T (p.Cys684Phe) n.725G>T c.637-29199G>T (n.637-29199G>T) | ClinVar dbSNP |
| 15 | g.48503849C= | CA2175526583 | FBN1 | c.2051G= (p.Cys684=) n.725G= c.637-29199G= (n.637-29199G=) | |
| 15 | g.48503849C>G | CA392338308 | FBN1 | c.2051G>C (p.Cys684Ser) n.725G>C c.637-29199G>C (n.637-29199G>C) | ClinVar dbSNP |
| 15 | g.48503849C>T | CA392338310 | FBN1 | c.2051G>A (p.Cys684Tyr) n.725G>A c.637-29199G>A (n.637-29199G>A) | ClinVar dbSNP |
| 15 | g.48503850A= | CA2175526586 | FBN1 | c.2050T= (p.Cys684=) n.724T= c.637-29200T= (n.637-29200T=) | |
| 15 | g.48503850A>C | CA392338317 | FBN1 | c.2050T>G (p.Cys684Gly) n.724T>G c.637-29200T>G (n.637-29200T>G) | |
| 15 | g.48503850A>G | CA392338320 | FBN1 | c.2050T>C (p.Cys684Arg) n.724T>C c.637-29200T>C (n.637-29200T>C) | ClinVar dbSNP |
| 15 | g.48503850A>T | CA392338322 | FBN1 | c.2050T>A (p.Cys684Ser) n.724T>A c.637-29200T>A (n.637-29200T>A) | |
| 15 | g.48503851G>A | CA490024185 | FBN1 | c.2049C>T (p.Cys683=) n.723C>T c.637-29201C>T (n.637-29201C>T) | |
| 15 | g.48503851G>C | CA392338326 | FBN1 | c.2049C>G (p.Cys683Trp) n.723C>G c.637-29201C>G (n.637-29201C>G) | ClinVar |
| 15 | g.48503851G>T | CA392338331 | FBN1 | c.2049C>A (p.Cys683Ter) n.723C>A c.637-29201C>A (n.637-29201C>A) | |
| 15 | g.48503852C>A | CA392338333 | FBN1 | c.2048G>T (p.Cys683Phe) n.722G>T c.637-29202G>T (n.637-29202G>T) | |
| 15 | g.48503852C>G | CA392338335 | FBN1 | c.2048G>C (p.Cys683Ser) n.722G>C c.637-29202G>C (n.637-29202G>C) | |
| 15 | g.48503852C>T | CA392338336 | FBN1 | c.2048G>A (p.Cys683Tyr) n.722G>A c.637-29202G>A (n.637-29202G>A) | ClinVar dbSNP COSMIC |
| 15 | g.48503854_48503857del | CA2695202074 | FBN1 | c.2045_2048del (p.Glu682AlafsTer?) n.719_722del c.637-29205_637-29202del (n.637-29205_637-29202del) | |
| 15 | g.48503853A>C | CA392338341 | FBN1 | c.2047T>G (p.Cys683Gly) n.721T>G c.637-29203T>G (n.637-29203T>G) | |
| 15 | g.48503853A>G | CA392338343 | FBN1 | c.2047T>C (p.Cys683Arg) n.721T>C c.637-29203T>C (n.637-29203T>C) | COSMIC |
| 15 | g.48503853A>T | CA392338347 | FBN1 | c.2047T>A (p.Cys683Ser) n.721T>A c.637-29203T>A (n.637-29203T>A) | |
| 15 | g.48503854T>A | CA392338351 | FBN1 | c.2046A>T (p.Glu682Asp) n.720A>T c.637-29204A>T (n.637-29204A>T) | |
| 15 | g.48503854T>C | CA490024187 | FBN1 | c.2046A>G (p.Glu682=) n.720A>G c.637-29204A>G (n.637-29204A>G) | |
| 15 | g.48503854T>G | CA392338354 | FBN1 | c.2046A>C (p.Glu682Asp) n.720A>C c.637-29204A>C (n.637-29204A>C) | dbSNP |
| 15 | g.48503854T= | CA2175526590 | FBN1 | c.2046A= (p.Glu682=) n.720A= c.637-29204A= (n.637-29204A=) | |
| 15 | g.48503855T>A | CA392338364 | FBN1 | c.2045A>T (p.Glu682Val) n.719A>T c.637-29205A>T (n.637-29205A>T) | |
| 15 | g.48503855T>C | CA392338361 | FBN1 | c.2045A>G (p.Glu682Gly) n.719A>G c.637-29205A>G (n.637-29205A>G) | |
| 15 | g.48503855T>G | CA392338358 | FBN1 | c.2045A>C (p.Glu682Ala) n.719A>C c.637-29205A>C (n.637-29205A>C) | |
| 15 | g.48503856C>A | CA392338368 | FBN1 | c.2044G>T (p.Glu682Ter) n.718G>T c.637-29206G>T (n.637-29206G>T) | |
| 15 | g.48503856C= | CA2175526593 | FBN1 | c.2044G= (p.Glu682=) n.718G= c.637-29206G= (n.637-29206G=) | |
| 15 | g.48503856C>G | CA269548980 | FBN1 | c.2044G>C (p.Glu682Gln) n.718G>C c.637-29206G>C (n.637-29206G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503856C>T | CA392338371 | FBN1 | c.2044G>A (p.Glu682Lys) n.718G>A c.637-29206G>A (n.637-29206G>A) | gnomAD v4 COSMIC |
| 15 | g.48503857A= | CA2175526596 | FBN1 | c.2043T= (p.Ser681=) n.717T= c.637-29207T= (n.637-29207T=) | |
| 15 | g.48503857A>C | CA490024189 | FBN1 | c.2043T>G (p.Ser681=) n.717T>G c.637-29207T>G (n.637-29207T>G) | |
| 15 | g.48503857A>G | CA046617 | FBN1 | c.2043T>C (p.Ser681=) n.717T>C c.637-29207T>C (n.637-29207T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503857A>T | CA490024188 | FBN1 | c.2043T>A (p.Ser681=) n.717T>A c.637-29207T>A (n.637-29207T>A) | |
| 15 | g.48503858G>A | CA392338377 | FBN1 | c.2042C>T (p.Ser681Phe) n.716C>T c.637-29208C>T (n.637-29208C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503858G>C | CA392338379 | FBN1 | c.2042C>G (p.Ser681Cys) n.716C>G c.637-29208C>G (n.637-29208C>G) | |
| 15 | g.48503858G= | CA2175526600 | FBN1 | c.2042C= (p.Ser681=) n.716C= c.637-29208C= (n.637-29208C=) | |
| 15 | g.48503858G>T | CA392338381 | FBN1 | c.2042C>A (p.Ser681Tyr) n.716C>A c.637-29208C>A (n.637-29208C>A) | ClinVar dbSNP |
| 15 | g.48503859A>C | CA392338385 | FBN1 | c.2041T>G (p.Ser681Ala) n.715T>G c.637-29209T>G (n.637-29209T>G) | |
| 15 | g.48503859A>G | CA392338386 | FBN1 | c.2041T>C (p.Ser681Pro) n.715T>C c.637-29209T>C (n.637-29209T>C) | |
| 15 | g.48503859A>T | CA392338389 | FBN1 | c.2041T>A (p.Ser681Thr) n.715T>A c.637-29209T>A (n.637-29209T>A) | |
| 15 | g.48503860T>A | CA392338393 | FBN1 | c.2040A>T (p.Lys680Asn) n.714A>T c.637-29210A>T (n.637-29210A>T) | |
| 15 | g.48503860T>C | CA490024190 | FBN1 | c.2040A>G (p.Lys680=) n.714A>G c.637-29210A>G (n.637-29210A>G) | |
| 15 | g.48503860T>G | CA392338395 | FBN1 | c.2040A>C (p.Lys680Asn) n.714A>C c.637-29210A>C (n.637-29210A>C) | |
| 15 | g.48503861T>A | CA392338398 | FBN1 | c.2039A>T (p.Lys680Ile) n.713A>T c.637-29211A>T (n.637-29211A>T) | |
| 15 | g.48503861T>C | CA392338401 | FBN1 | c.2039A>G (p.Lys680Arg) n.713A>G c.637-29211A>G (n.637-29211A>G) | |
| 15 | g.48503861T>G | CA392338403 | FBN1 | c.2039A>C (p.Lys680Thr) n.713A>C c.637-29211A>C (n.637-29211A>C) | |
| 15 | g.48503862T>A | CA392338413 | FBN1 | c.2038A>T (p.Lys680Ter) n.712A>T c.637-29212A>T (n.637-29212A>T) | |
| 15 | g.48503862T>C | CA392338407 | FBN1 | c.2038A>G (p.Lys680Glu) n.712A>G c.637-29212A>G (n.637-29212A>G) | ClinVar |
| 15 | g.48503862T>G | CA392338410 | FBN1 | c.2038A>C (p.Lys680Gln) n.712A>C c.637-29212A>C (n.637-29212A>C) | |
| 15 | g.48503863A>C | CA490024191 | FBN1 | c.2037T>G (p.Thr679=) n.711T>G c.637-29213T>G (n.637-29213T>G) | |
| 15 | g.48503863A>G | CA490024192 | FBN1 | c.2037T>C (p.Thr679=) n.711T>C c.637-29213T>C (n.637-29213T>C) | |
| 15 | g.48503863A>T | CA490024193 | FBN1 | c.2037T>A (p.Thr679=) n.711T>A c.637-29213T>A (n.637-29213T>A) | |
| 15 | g.48503864G>A | CA392338416 | FBN1 | c.2036C>T (p.Thr679Ile) n.710C>T c.637-29214C>T (n.637-29214C>T) | |
| 15 | g.48503864G>C | CA392338419 | FBN1 | c.2036C>G (p.Thr679Ser) n.710C>G c.637-29214C>G (n.637-29214C>G) | |
| 15 | g.48503864G>T | CA392338422 | FBN1 | c.2036C>A (p.Thr679Asn) n.710C>A c.637-29214C>A (n.637-29214C>A) | |
| 15 | g.48503865T>A | CA392338426 | FBN1 | c.2035A>T (p.Thr679Ser) n.709A>T c.637-29215A>T (n.637-29215A>T) | |
| 15 | g.48503865T>C | CA392338429 | FBN1 | c.2035A>G (p.Thr679Ala) n.709A>G c.637-29215A>G (n.637-29215A>G) | |
| 15 | g.48503865T>G | CA392338432 | FBN1 | c.2035A>C (p.Thr679Pro) n.709A>C c.637-29215A>C (n.637-29215A>C) | |
| 15 | g.48503866G>A | CA490024194 | FBN1 | c.2034C>T (p.Val678=) n.708C>T c.637-29216C>T (n.637-29216C>T) | |
| 15 | g.48503866G>C | CA490024195 | FBN1 | c.2034C>G (p.Val678=) n.708C>G c.637-29216C>G (n.637-29216C>G) | |
| 15 | g.48503866G>T | CA490024196 | FBN1 | c.2034C>A (p.Val678=) n.708C>A c.637-29216C>A (n.637-29216C>A) | |
| 15 | g.48503867A>C | CA392338434 | FBN1 | c.2033T>G (p.Val678Gly) n.707T>G c.637-29217T>G (n.637-29217T>G) | |
| 15 | g.48503867A>G | CA392338435 | FBN1 | c.2033T>C (p.Val678Ala) n.707T>C c.637-29217T>C (n.637-29217T>C) | |
| 15 | g.48503867A>T | CA392338437 | FBN1 | c.2033T>A (p.Val678Asp) n.707T>A c.637-29217T>A (n.637-29217T>A) | |
| 15 | g.48503868C>A | CA392338439 | FBN1 | c.2032G>T (p.Val678Phe) n.706G>T c.637-29218G>T (n.637-29218G>T) | |
| 15 | g.48503868C>G | CA392338441 | FBN1 | c.2032G>C (p.Val678Leu) n.706G>C c.637-29218G>C (n.637-29218G>C) | |
| 15 | g.48503868C>T | CA392338443 | FBN1 | c.2032G>A (p.Val678Ile) n.706G>A c.637-29218G>A (n.637-29218G>A) | |
| 15 | g.48503869A= | CA2175526604 | FBN1 | c.2031T= (p.Ala677=) n.705T= c.637-29219T= (n.637-29219T=) | |
| 15 | g.48503869A>C | CA490024197 | FBN1 | c.2031T>G (p.Ala677=) n.705T>G c.637-29219T>G (n.637-29219T>G) | |
| 15 | g.48503869A>G | CA490024198 | FBN1 | c.2031T>C (p.Ala677=) n.705T>C c.637-29219T>C (n.637-29219T>C) | ClinVar |
| 15 | g.48503869A>T | CA269548989 | FBN1 | c.2031T>A (p.Ala677=) n.705T>A c.637-29219T>A (n.637-29219T>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503870G>A | CA392338451 | FBN1 | c.2030C>T (p.Ala677Val) n.704C>T c.637-29220C>T (n.637-29220C>T) | |
| 15 | g.48503870G>C | CA392338446 | FBN1 | c.2030C>G (p.Ala677Gly) n.704C>G c.637-29220C>G (n.637-29220C>G) | |
| 15 | g.48503870G>T | CA392338448 | FBN1 | c.2030C>A (p.Ala677Asp) n.704C>A c.637-29220C>A (n.637-29220C>A) | |
| 15 | g.48503871C>A | CA392338452 | FBN1 | c.2029G>T (p.Ala677Ser) n.703G>T c.637-29221G>T (n.637-29221G>T) | |
| 15 | g.48503871C= | CA2175526610 | FBN1 | c.2029G= (p.Ala677=) n.703G= c.637-29221G= (n.637-29221G=) | |
| 15 | g.48503871C>G | CA392338455 | FBN1 | c.2029G>C (p.Ala677Pro) n.703G>C c.637-29221G>C (n.637-29221G>C) | |
| 15 | g.48503871C>T | CA392338457 | FBN1 | c.2029G>A (p.Ala677Thr) n.703G>A c.637-29221G>A (n.637-29221G>A) | |
| 15 | g.48503871_48503872insT | CA16614828 | FBN1 | c.2028_2029insA (p.Ala677SerfsTer4) n.702_703insA c.637-29222_637-29221insA (n.637-29222_637-29221insA) | ClinVar dbSNP |
| 15 | g.48503872A>C | CA490024199 | FBN1 | c.2028T>G (p.Gly676=) n.702T>G c.637-29222T>G (n.637-29222T>G) | |
| 15 | g.48503872A>G | CA490024200 | FBN1 | c.2028T>C (p.Gly676=) n.702T>C c.637-29222T>C (n.637-29222T>C) | |
| 15 | g.48503872A>T | CA490024201 | FBN1 | c.2028T>A (p.Gly676=) n.702T>A c.637-29222T>A (n.637-29222T>A) | |
| 15 | g.48503873C>A | CA392338461 | FBN1 | c.2027G>T (p.Gly676Val) n.701G>T c.637-29223G>T (n.637-29223G>T) | |
| 15 | g.48503873C= | CA2175526617 | FBN1 | c.2027G= (p.Gly676=) n.701G= c.637-29223G= (n.637-29223G=) | |
| 15 | g.48503873C>G | CA046605 | FBN1 | c.2027G>C (p.Gly676Ala) n.701G>C c.637-29223G>C (n.637-29223G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503873C>T | CA392338458 | FBN1 | c.2027G>A (p.Gly676Asp) n.701G>A c.637-29223G>A (n.637-29223G>A) | |
| 15 | g.48503873_48503877delinsCCAAA | CA2175526619 | FBN1 | c.2023_2027delinsTTTGG (p.Phe675=) n.697_701delinsTTTGG c.637-29227_637-29223delinsTTTGG (n.637-29227_637-29223delinsTTTGG) | |
| 15 | g.48503874C>A | CA392338463 | FBN1 | c.2026G>T (p.Gly676Cys) n.700G>T c.637-29224G>T (n.637-29224G>T) | ClinVar dbSNP |
| 15 | g.48503874C>G | CA392338465 | FBN1 | c.2026G>C (p.Gly676Arg) n.700G>C c.637-29224G>C (n.637-29224G>C) | |
| 15 | g.48503874C>T | CA392338467 | FBN1 | c.2026G>A (p.Gly676Ser) n.700G>A c.637-29224G>A (n.637-29224G>A) | |
| 15 | g.48503878_48503881del | CA10603348 | FBN1 | c.2023_2026del (p.Phe675ValfsTer?) n.697_700del c.637-29227_637-29224del (n.637-29227_637-29224del) | ClinVar dbSNP |
| 15 | g.48503875A>C | CA392338470 | FBN1 | c.2025T>G (p.Phe675Leu) n.699T>G c.637-29225T>G (n.637-29225T>G) | |
| 15 | g.48503875A>G | CA490024202 | FBN1 | c.2025T>C (p.Phe675=) n.699T>C c.637-29225T>C (n.637-29225T>C) | |
| 15 | g.48503875A>T | CA392338472 | FBN1 | c.2025T>A (p.Phe675Leu) n.699T>A c.637-29225T>A (n.637-29225T>A) | |
| 15 | g.48503876A>C | CA392338474 | FBN1 | c.2024T>G (p.Phe675Cys) n.698T>G c.637-29226T>G (n.637-29226T>G) | |
| 15 | g.48503876A>G | CA392338478 | FBN1 | c.2024T>C (p.Phe675Ser) n.698T>C c.637-29226T>C (n.637-29226T>C) | |
| 15 | g.48503876A>T | CA392338476 | FBN1 | c.2024T>A (p.Phe675Tyr) n.698T>A c.637-29226T>A (n.637-29226T>A) | |
| 15 | g.48503877A>C | CA392338479 | FBN1 | c.2023T>G (p.Phe675Val) n.697T>G c.637-29227T>G (n.637-29227T>G) | |
| 15 | g.48503877A>G | CA392338481 | FBN1 | c.2023T>C (p.Phe675Leu) n.697T>C c.637-29227T>C (n.637-29227T>C) | |
| 15 | g.48503877A>T | CA392338483 | FBN1 | c.2023T>A (p.Phe675Ile) n.697T>A c.637-29227T>A (n.637-29227T>A) | |
| 15 | g.48503878C>A | CA392338485 | FBN1 | c.2022G>T (p.Leu674Phe) n.696G>T c.637-29228G>T (n.637-29228G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503878C= | CA2175526627 | FBN1 | c.2022G= (p.Leu674=) n.696G= c.637-29228G= (n.637-29228G=) | |
| 15 | g.48503878C>G | CA012711 | FBN1 | c.2022G>C (p.Leu674Phe) n.696G>C c.637-29228G>C (n.637-29228G>C) | ClinVar dbSNP |
| 15 | g.48503878C>T | CA490024206 | FBN1 | c.2022G>A (p.Leu674=) n.696G>A c.637-29228G>A (n.637-29228G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48503879A= | CA2175526631 | FBN1 | c.2021T= (p.Leu674=) n.695T= c.637-29229T= (n.637-29229T=) | |
| 15 | g.48503879A>C | CA392338492 | FBN1 | c.2021T>G (p.Leu674Trp) n.695T>G c.637-29229T>G (n.637-29229T>G) | |
| 15 | g.48503879A>G | CA392338496 | FBN1 | c.2021T>C (p.Leu674Ser) n.695T>C c.637-29229T>C (n.637-29229T>C) | dbSNP |
| 15 | g.48503879A>T | CA392338505 | FBN1 | c.2021T>A (p.Leu674Ter) n.695T>A c.637-29229T>A (n.637-29229T>A) | |
| 15 | g.48503881del | CA2580089581 | FBN1 | c.2021del (p.Leu674CysfsTer?) n.695del c.637-29229del (n.637-29229del) | ClinVar |
| 15 | g.48503880A= | CA2175526637 | FBN1 | c.2020T= (p.Leu674=) n.694T= c.637-29230T= (n.637-29230T=) | |
| 15 | g.48503880A>C | CA392338511 | FBN1 | c.2020T>G (p.Leu674Val) n.694T>G c.637-29230T>G (n.637-29230T>G) | |
| 15 | g.48503880A>G | CA046592 | FBN1 | c.2020T>C (p.Leu674=) n.694T>C c.637-29230T>C (n.637-29230T>C) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48503880A>T | CA392338515 | FBN1 | c.2020T>A (p.Leu674Met) n.694T>A c.637-29230T>A (n.637-29230T>A) | |
| 15 | g.48503881A>C | CA490024215 | FBN1 | c.2019T>G (p.Pro673=) n.693T>G c.637-29231T>G (n.637-29231T>G) | |
| 15 | g.48503881A>G | CA490024218 | FBN1 | c.2019T>C (p.Pro673=) n.693T>C c.637-29231T>C (n.637-29231T>C) | |
| 15 | g.48503881A>T | CA490024220 | FBN1 | c.2019T>A (p.Pro673=) n.693T>A c.637-29231T>A (n.637-29231T>A) | |
| 15 | g.48503882G>A | CA392338519 | FBN1 | c.2018C>T (p.Pro673Leu) n.692C>T c.637-29232C>T (n.637-29232C>T) | |
| 15 | g.48503882G>C | CA392338524 | FBN1 | c.2018C>G (p.Pro673Arg) n.692C>G c.637-29232C>G (n.637-29232C>G) | |
| 15 | g.48503882G>T | CA392338522 | FBN1 | c.2018C>A (p.Pro673His) n.692C>A c.637-29232C>A (n.637-29232C>A) | |
| 15 | g.48503882_48503891delinsAGCACCAA | CA2580089583 | FBN1 | c.2009_2018delinsTTGGTGCT (p.Cys670PhefsTer10) n.683_692delinsTTGGTGCT c.637-29241_637-29232delinsTTGGTGCT (n.637-29241_637-29232delinsTTGGTGCT) | ClinVar |
| 15 | g.48503883G>A | CA269549034 | FBN1 | c.2017C>T (p.Pro673Ser) n.691C>T c.637-29233C>T (n.637-29233C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503883G>C | CA392338532 | FBN1 | c.2017C>G (p.Pro673Ala) n.691C>G c.637-29233C>G (n.637-29233C>G) | |
| 15 | g.48503883G= | CA2175526644 | FBN1 | c.2017C= (p.Pro673=) n.691C= c.637-29233C= (n.637-29233C=) | |
| 15 | g.48503883G>T | CA392338528 | FBN1 | c.2017C>A (p.Pro673Thr) n.691C>A c.637-29233C>A (n.637-29233C>A) | |
| 15 | g.48503884T>A | CA392338535 | FBN1 | c.2016A>T (p.Lys672Asn) n.690A>T c.637-29234A>T (n.637-29234A>T) | COSMIC |
| 15 | g.48503884T>C | CA490024235 | FBN1 | c.2016A>G (p.Lys672=) n.690A>G c.637-29234A>G (n.637-29234A>G) | |
| 15 | g.48503884T>G | CA392338538 | FBN1 | c.2016A>C (p.Lys672Asn) n.690A>C c.637-29234A>C (n.637-29234A>C) | |
| 15 | g.48503885T>A | CA392338543 | FBN1 | c.2015A>T (p.Lys672Ile) n.689A>T c.637-29235A>T (n.637-29235A>T) | |
| 15 | g.48503885T>C | CA392338546 | FBN1 | c.2015A>G (p.Lys672Arg) n.689A>G c.637-29235A>G (n.637-29235A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503885T>G | CA392338549 | FBN1 | c.2015A>C (p.Lys672Thr) n.689A>C c.637-29235A>C (n.637-29235A>C) | |
| 15 | g.48503885T= | CA2175526651 | FBN1 | c.2015A= (p.Lys672=) n.689A= c.637-29235A= (n.637-29235A=) | |
| 15 | g.48503886T>A | CA392338554 | FBN1 | c.2014A>T (p.Lys672Ter) n.688A>T c.637-29236A>T (n.637-29236A>T) | |
| 15 | g.48503886T>C | CA392338557 | FBN1 | c.2014A>G (p.Lys672Glu) n.688A>G c.637-29236A>G (n.637-29236A>G) | |
| 15 | g.48503886T>G | CA392338560 | FBN1 | c.2014A>C (p.Lys672Gln) n.688A>C c.637-29236A>C (n.637-29236A>C) | |
| 15 | g.48503887G>A | CA490024254 | FBN1 | c.2013C>T (p.Ile671=) n.687C>T c.637-29237C>T (n.637-29237C>T) | |
| 15 | g.48503887G>C | CA392338563 | FBN1 | c.2013C>G (p.Ile671Met) n.687C>G c.637-29237C>G (n.637-29237C>G) | gnomAD v4 COSMIC |
| 15 | g.48503887G>T | CA490024249 | FBN1 | c.2013C>A (p.Ile671=) n.687C>A c.637-29237C>A (n.637-29237C>A) | |
| 15 | g.48503888A>C | CA392338565 | FBN1 | c.2012T>G (p.Ile671Ser) n.686T>G c.637-29238T>G (n.637-29238T>G) | |
| 15 | g.48503888A>G | CA392338568 | FBN1 | c.2012T>C (p.Ile671Thr) n.686T>C c.637-29238T>C (n.637-29238T>C) | |
| 15 | g.48503888A>T | CA392338571 | FBN1 | c.2012T>A (p.Ile671Asn) n.686T>A c.637-29238T>A (n.637-29238T>A) | |
| 15 | g.48503889T>A | CA392338575 | FBN1 | c.2011A>T (p.Ile671Phe) n.685A>T c.637-29239A>T (n.637-29239A>T) | |
| 15 | g.48503889T>C | CA392338576 | FBN1 | c.2011A>G (p.Ile671Val) n.685A>G c.637-29239A>G (n.637-29239A>G) | |
| 15 | g.48503889T>G | CA392338578 | FBN1 | c.2011A>C (p.Ile671Leu) n.685A>C c.637-29239A>C (n.637-29239A>C) | gnomAD v4 |
| 15 | g.48503890A>C | CA392338581 | FBN1 | c.2010T>G (p.Cys670Trp) n.684T>G c.637-29240T>G (n.637-29240T>G) | |
| 15 | g.48503890A>G | CA490024268 | FBN1 | c.2010T>C (p.Cys670=) n.684T>C c.637-29240T>C (n.637-29240T>C) | |
| 15 | g.48503890A>T | CA392338585 | FBN1 | c.2010T>A (p.Cys670Ter) n.684T>A c.637-29240T>A (n.637-29240T>A) | |
| 15 | g.48503891C>A | CA392338588 | FBN1 | c.2009G>T (p.Cys670Phe) n.683G>T c.637-29241G>T (n.637-29241G>T) | |
| 15 | g.48503891C>G | CA392338592 | FBN1 | c.2009G>C (p.Cys670Ser) n.683G>C c.637-29241G>C (n.637-29241G>C) | ClinVar |
| 15 | g.48503891C>T | CA392338594 | FBN1 | c.2009G>A (p.Cys670Tyr) n.683G>A c.637-29241G>A (n.637-29241G>A) | |
| 15 | g.48503892A= | CA2175526653 | FBN1 | c.2008T= (p.Cys670=) n.682T= c.637-29242T= (n.637-29242T=) | |
| 15 | g.48503892A>C | CA392338597 | FBN1 | c.2008T>G (p.Cys670Gly) n.682T>G c.637-29242T>G (n.637-29242T>G) | |
| 15 | g.48503892A>G | CA392338599 | FBN1 | c.2008T>C (p.Cys670Arg) n.682T>C c.637-29242T>C (n.637-29242T>C) | gnomAD v4 |
| 15 | g.48503892A>T | CA392338602 | FBN1 | c.2008T>A (p.Cys670Ser) n.682T>A c.637-29242T>A (n.637-29242T>A) | |
| 15 | g.48503893C>A | CA392338605 | FBN1 | c.2007G>T (p.Gln669His) n.681G>T c.637-29243G>T (n.637-29243G>T) | |
| 15 | g.48503893C>G | CA392338609 | FBN1 | c.2007G>C (p.Gln669His) n.681G>C c.637-29243G>C (n.637-29243G>C) | gnomAD v4 |
| 15 | g.48503893C>T | CA490024283 | FBN1 | c.2007G>A (p.Gln669=) n.681G>A c.637-29243G>A (n.637-29243G>A) | ClinVar |
| 15 | g.48503895_48503899dup | CA16619972 | FBN1 | c.2003_2007dup (p.Cys670AlafsTer?) n.677_681dup c.637-29247_637-29243dup (n.637-29247_637-29243dup) | ClinVar dbSNP |
| 15 | g.48503894T>A | CA269549043 | FBN1 | c.2006A>T (p.Gln669Leu) n.680A>T c.637-29244A>T (n.637-29244A>T) | dbSNP gnomAD v4 COSMIC |
| 15 | g.48503894T>C | CA392338615 | FBN1 | c.2006A>G (p.Gln669Arg) n.680A>G c.637-29244A>G (n.637-29244A>G) | ClinVar dbSNP |
| 15 | g.48503894T>G | CA392338619 | FBN1 | c.2006A>C (p.Gln669Pro) n.680A>C c.637-29244A>C (n.637-29244A>C) | ClinVar |
| 15 | g.48503894T= | CA2175526661 | FBN1 | c.2006A= (p.Gln669=) n.680A= c.637-29244A= (n.637-29244A=) | |
| 15 | g.48503895G>A | CA392338628 | FBN1 | c.2005C>T (p.Gln669Ter) n.679C>T c.637-29245C>T (n.637-29245C>T) | ClinVar |
| 15 | g.48503895G>C | CA392338626 | FBN1 | c.2005C>G (p.Gln669Glu) n.679C>G c.637-29245C>G (n.637-29245C>G) | |
| 15 | g.48503895G>T | CA392338623 | FBN1 | c.2005C>A (p.Gln669Lys) n.679C>A c.637-29245C>A (n.637-29245C>A) | |
| 15 | g.48503896G>A | CA490024297 | FBN1 | c.2004C>T (p.Gly668=) n.678C>T c.637-29246C>T (n.637-29246C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503896G>C | CA490024299 | FBN1 | c.2004C>G (p.Gly668=) n.678C>G c.637-29246C>G (n.637-29246C>G) | |
| 15 | g.48503896G= | CA2175526666 | FBN1 | c.2004C= (p.Gly668=) n.678C= c.637-29246C= (n.637-29246C=) | |
| 15 | g.48503896G>T | CA490024301 | FBN1 | c.2004C>A (p.Gly668=) n.678C>A c.637-29246C>A (n.637-29246C>A) | |
| 15 | g.48503896_48503897delinsGC | CA2175526667 | FBN1 | c.2003_2004delinsGC (p.Gly668=) n.677_678delinsGC c.637-29247_637-29246delinsGC (n.637-29247_637-29246delinsGC) | |
| 15 | g.48503897C>A | CA392338632 | FBN1 | c.2003G>T (p.Gly668Val) n.677G>T c.637-29247G>T (n.637-29247G>T) | COSMIC |
| 15 | g.48503897C>G | CA392338637 | FBN1 | c.2003G>C (p.Gly668Ala) n.677G>C c.637-29247G>C (n.637-29247G>C) | |
| 15 | g.48503897C>T | CA392338639 | FBN1 | c.2003G>A (p.Gly668Asp) n.677G>A c.637-29247G>A (n.637-29247G>A) | |
| 15 | g.48503897delinsATACA | CA658798347 | FBN1 | c.2003delinsTGTAT (p.Gly668ValfsTer14) n.677delinsTGTAT c.637-29247delinsTGTAT (n.637-29247delinsTGTAT) | ClinVar dbSNP |
| 15 | g.48503898C>A | CA392338645 | FBN1 | c.2002G>T (p.Gly668Cys) n.676G>T c.637-29248G>T (n.637-29248G>T) | |
| 15 | g.48503898C>G | CA392338648 | FBN1 | c.2002G>C (p.Gly668Arg) n.676G>C c.637-29248G>C (n.637-29248G>C) | |
| 15 | g.48503898C>T | CA392338649 | FBN1 | c.2002G>A (p.Gly668Ser) n.676G>A c.637-29248G>A (n.637-29248G>A) | gnomAD v4 |
| 15 | g.48503899T>A | CA392338652 | FBN1 | c.2001A>T (p.Arg667Ser) n.675A>T c.637-29249A>T (n.637-29249A>T) | |
| 15 | g.48503899T>C | CA490024315 | FBN1 | c.2001A>G (p.Arg667=) n.675A>G c.637-29249A>G (n.637-29249A>G) | ClinVar dbSNP |
| 15 | g.48503899T>G | CA392338655 | FBN1 | c.2001A>C (p.Arg667Ser) n.675A>C c.637-29249A>C (n.637-29249A>C) | |
| 15 | g.48503899T= | CA2175526677 | FBN1 | c.2001A= (p.Arg667=) n.675A= c.637-29249A= (n.637-29249A=) | |
| 15 | g.48503900C>A | CA392338660 | FBN1 | c.2000G>T (p.Arg667Ile) n.674G>T c.637-29250G>T (n.637-29250G>T) | |
| 15 | g.48503900C= | CA2175526681 | FBN1 | c.2000G= (p.Arg667=) n.674G= c.637-29250G= (n.637-29250G=) | |
| 15 | g.48503900C>G | CA392338662 | FBN1 | c.2000G>C (p.Arg667Thr) n.674G>C c.637-29250G>C (n.637-29250G>C) | |
| 15 | g.48503900C>T | CA392338666 | FBN1 | c.2000G>A (p.Arg667Lys) n.674G>A c.637-29250G>A (n.637-29250G>A) | ClinVar dbSNP |
| 15 | g.48503901T>A | CA392338673 | FBN1 | c.1999A>T (p.Arg667Ter) n.673A>T c.637-29251A>T (n.637-29251A>T) | ClinVar dbSNP |
| 15 | g.48503901T>C | CA392338679 | FBN1 | c.1999A>G (p.Arg667Gly) n.673A>G c.637-29251A>G (n.637-29251A>G) | |
| 15 | g.48503901T>G | CA490024324 | FBN1 | c.1999A>C (p.Arg667=) n.673A>C c.637-29251A>C (n.637-29251A>C) | |
| 15 | g.48503901T= | CA2175526688 | FBN1 | c.1999A= (p.Arg667=) n.673A= c.637-29251A= (n.637-29251A=) | |
| 15 | g.48503902C>A | CA392338682 | FBN1 | c.1998G>T (p.Lys666Asn) n.672G>T c.637-29252G>T (n.637-29252G>T) | |
| 15 | g.48503902C>G | CA392338684 | FBN1 | c.1998G>C (p.Lys666Asn) n.672G>C c.637-29252G>C (n.637-29252G>C) | dbSNP |
| 15 | g.48503902C>T | CA490024332 | FBN1 | c.1998G>A (p.Lys666=) n.672G>A c.637-29252G>A (n.637-29252G>A) | ClinVar |
| 15 | g.48503903T>A | CA392338689 | FBN1 | c.1997A>T (p.Lys666Met) n.671A>T c.637-29253A>T (n.637-29253A>T) | COSMIC |
| 15 | g.48503903T>C | CA392338692 | FBN1 | c.1997A>G (p.Lys666Arg) n.671A>G c.637-29253A>G (n.637-29253A>G) | gnomAD v4 |
| 15 | g.48503903T>G | CA392338695 | FBN1 | c.1997A>C (p.Lys666Thr) n.671A>C c.637-29253A>C (n.637-29253A>C) | |
| 15 | g.48503904T>A | CA392338697 | FBN1 | c.1996A>T (p.Lys666Ter) n.670A>T c.637-29254A>T (n.637-29254A>T) | |
| 15 | g.48503904T>C | CA392338700 | FBN1 | c.1996A>G (p.Lys666Glu) n.670A>G c.637-29254A>G (n.637-29254A>G) | |
| 15 | g.48503904T>G | CA392338703 | FBN1 | c.1996A>C (p.Lys666Gln) n.670A>C c.637-29254A>C (n.637-29254A>C) | |
| 15 | g.48503905G>A | CA490024345 | FBN1 | c.1995C>T (p.Tyr665=) n.669C>T c.637-29255C>T (n.637-29255C>T) | |
| 15 | g.48503905G>C | CA392338706 | FBN1 | c.1995C>G (p.Tyr665Ter) n.669C>G c.637-29255C>G (n.637-29255C>G) | ClinVar dbSNP |
| 15 | g.48503905G>T | CA392338708 | FBN1 | c.1995C>A (p.Tyr665Ter) n.669C>A c.637-29255C>A (n.637-29255C>A) | ClinVar dbSNP |
| 15 | g.48503906T>A | CA392338713 | FBN1 | c.1994A>T (p.Tyr665Phe) n.668A>T c.637-29256A>T (n.637-29256A>T) | |
| 15 | g.48503906T>C | CA392338715 | FBN1 | c.1994A>G (p.Tyr665Cys) n.668A>G c.637-29256A>G (n.637-29256A>G) | |
| 15 | g.48503906T>G | CA392338718 | FBN1 | c.1994A>C (p.Tyr665Ser) n.668A>C c.637-29256A>C (n.637-29256A>C) | |
| 15 | g.48503907A>C | CA392338727 | FBN1 | c.1993T>G (p.Tyr665Asp) n.667T>G c.637-29257T>G (n.637-29257T>G) | |
| 15 | g.48503907A>G | CA392338723 | FBN1 | c.1993T>C (p.Tyr665His) n.667T>C c.637-29257T>C (n.637-29257T>C) | |
| 15 | g.48503907A>T | CA392338721 | FBN1 | c.1993T>A (p.Tyr665Asn) n.667T>A c.637-29257T>A (n.637-29257T>A) | |
| 15 | g.48503908T>A | CA046571 | FBN1 | c.1992A>T (p.Gly664=) n.666A>T c.637-29258A>T (n.637-29258A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503908T>C | CA490024361 | FBN1 | c.1992A>G (p.Gly664=) n.666A>G c.637-29258A>G (n.637-29258A>G) | gnomAD v4 |
| 15 | g.48503908T>G | CA490024364 | FBN1 | c.1992A>C (p.Gly664=) n.666A>C c.637-29258A>C (n.637-29258A>C) | ClinVar |
| 15 | g.48503908T= | CA2175526695 | FBN1 | c.1992A= (p.Gly664=) n.666A= c.637-29258A= (n.637-29258A=) | |
| 15 | g.48503909C>A | CA392338740 | FBN1 | c.1991G>T (p.Gly664Val) n.665G>T c.637-29259G>T (n.637-29259G>T) | |
| 15 | g.48503909C= | CA2175526700 | FBN1 | c.1991G= (p.Gly664=) n.665G= c.637-29259G= (n.637-29259G=) | |
| 15 | g.48503909C>G | CA392338735 | FBN1 | c.1991G>C (p.Gly664Ala) n.665G>C c.637-29259G>C (n.637-29259G>C) | |
| 15 | g.48503909C>T | CA392338738 | FBN1 | c.1991G>A (p.Gly664Glu) n.665G>A c.637-29259G>A (n.637-29259G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503910C>A | CA392338741 | FBN1 | c.1990G>T (p.Gly664Ter) n.664G>T c.637-29260G>T (n.637-29260G>T) | |
| 15 | g.48503910C>G | CA392338743 | FBN1 | c.1990G>C (p.Gly664Arg) n.664G>C c.637-29260G>C (n.637-29260G>C) | gnomAD v4 |
| 15 | g.48503910C>T | CA392338745 | FBN1 | c.1990G>A (p.Gly664Arg) n.664G>A c.637-29260G>A (n.637-29260G>A) | |
| 15 | g.48503911A>C | CA490024377 | FBN1 | c.1989T>G (p.Gly663=) n.663T>G c.637-29261T>G (n.637-29261T>G) | |
| 15 | g.48503911A>G | CA490024378 | FBN1 | c.1989T>C (p.Gly663=) n.663T>C c.637-29261T>C (n.637-29261T>C) | |
| 15 | g.48503911A>T | CA490024381 | FBN1 | c.1989T>A (p.Gly663=) n.663T>A c.637-29261T>A (n.637-29261T>A) | |
| 15 | g.48503912C>A | CA392338748 | FBN1 | c.1988G>T (p.Gly663Val) n.662G>T c.637-29262G>T (n.637-29262G>T) | |
| 15 | g.48503912C>G | CA392338750 | FBN1 | c.1988G>C (p.Gly663Ala) n.662G>C c.637-29262G>C (n.637-29262G>C) | |
| 15 | g.48503912C>T | CA392338752 | FBN1 | c.1988G>A (p.Gly663Asp) n.662G>A c.637-29262G>A (n.637-29262G>A) | |
| 15 | g.48503913C>A | CA392338755 | FBN1 | c.1987G>T (p.Gly663Cys) n.661G>T c.637-29263G>T (n.637-29263G>T) | |
| 15 | g.48503913C>G | CA392338756 | FBN1 | c.1987G>C (p.Gly663Arg) n.661G>C c.637-29263G>C (n.637-29263G>C) | |
| 15 | g.48503913C>T | CA392338757 | FBN1 | c.1987G>A (p.Gly663Ser) n.661G>A c.637-29263G>A (n.637-29263G>A) | gnomAD v4 |
| 15 | g.48503914A>C | CA392338760 | FBN1 | c.1986T>G (p.Tyr662Ter) n.660T>G c.637-29264T>G (n.637-29264T>G) | |
| 15 | g.48503914A>G | CA490024396 | FBN1 | c.1986T>C (p.Tyr662=) n.660T>C c.637-29264T>C (n.637-29264T>C) | gnomAD v4 |
| 15 | g.48503914A>T | CA392338762 | FBN1 | c.1986T>A (p.Tyr662Ter) n.660T>A c.637-29264T>A (n.637-29264T>A) | |
| 15 | g.48503915T>A | CA392338769 | FBN1 | c.1985A>T (p.Tyr662Phe) n.659A>T c.637-29265A>T (n.637-29265A>T) | |
| 15 | g.48503915T>C | CA392338765 | FBN1 | c.1985A>G (p.Tyr662Cys) n.659A>G c.637-29265A>G (n.637-29265A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503915T>G | CA392338766 | FBN1 | c.1985A>C (p.Tyr662Ser) n.659A>C c.637-29265A>C (n.637-29265A>C) | |
| 15 | g.48503915T= | CA2175526704 | FBN1 | c.1985A= (p.Tyr662=) n.659A= c.637-29265A= (n.637-29265A=) | |
| 15 | g.48503916A= | CA2175526706 | FBN1 | c.1984T= (p.Tyr662=) n.658T= c.637-29266T= (n.637-29266T=) | |
| 15 | g.48503916A>C | CA392338771 | FBN1 | c.1984T>G (p.Tyr662Asp) n.658T>G c.637-29266T>G (n.637-29266T>G) | ClinVar |
| 15 | g.48503916A>G | CA392338775 | FBN1 | c.1984T>C (p.Tyr662His) n.658T>C c.637-29266T>C (n.637-29266T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503916A>T | CA392338777 | FBN1 | c.1984T>A (p.Tyr662Asn) n.658T>A c.637-29266T>A (n.637-29266T>A) | |
| 15 | g.48503917G>A | CA046561 | FBN1 | c.1983C>T (p.Cys661=) n.657C>T c.637-29267C>T (n.637-29267C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503917G>C | CA392338780 | FBN1 | c.1983C>G (p.Cys661Trp) n.657C>G c.637-29267C>G (n.637-29267C>G) | ClinVar dbSNP |
| 15 | g.48503917G= | CA2175526711 | FBN1 | c.1983C= (p.Cys661=) n.657C= c.637-29267C= (n.637-29267C=) | |
| 15 | g.48503917G>T | CA392338781 | FBN1 | c.1983C>A (p.Cys661Ter) n.657C>A c.637-29267C>A (n.637-29267C>A) | |
| 15 | g.48503918C>A | CA392338783 | FBN1 | c.1982G>T (p.Cys661Phe) n.656G>T c.637-29268G>T (n.637-29268G>T) | |
| 15 | g.48503918C= | CA2175526715 | FBN1 | c.1982G= (p.Cys661=) n.656G= c.637-29268G= (n.637-29268G=) | |
| 15 | g.48503918C>G | CA392338785 | FBN1 | c.1982G>C (p.Cys661Ser) n.656G>C c.637-29268G>C (n.637-29268G>C) | |
| 15 | g.48503918C>T | CA16614668 | FBN1 | c.1982G>A (p.Cys661Tyr) n.656G>A c.637-29268G>A (n.637-29268G>A) | ClinVar dbSNP |
| 15 | g.48503918_48503938delinsCATGTGCTCCGCATGTGTGTG | CA2175526716 | FBN1 | c.1962_1982delinsCACACACATGCGGAGCACATG (p.Asp654=) n.636_656delinsCACACACATGCGGAGCACATG c.637-29288_637-29268delinsCACACACATGCGGAGCACATG (n.637-29288_637-29268delinsCACACACATGCGGAGCACATG) | |
| 15 | g.48503919A>C | CA392338789 | FBN1 | c.1981T>G (p.Cys661Gly) n.655T>G c.637-29269T>G (n.637-29269T>G) | |
| 15 | g.48503919A>G | CA392338791 | FBN1 | c.1981T>C (p.Cys661Arg) n.655T>C c.637-29269T>C (n.637-29269T>C) | |
| 15 | g.48503919A>T | CA392338793 | FBN1 | c.1981T>A (p.Cys661Ser) n.655T>A c.637-29269T>A (n.637-29269T>A) | |
| 15 | g.48503919dup | CA916082405 | FBN1 | c.1981dup (p.Cys661LeufsTer20) n.655dup c.637-29269dup (n.637-29269dup) | ClinVar dbSNP |
| 15 | g.48503919_48503938delinsCT | CA915946595 | FBN1 | c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly) n.636_655delinsAG c.637-29288_637-29269delinsAG (n.637-29288_637-29269delinsAG) | ClinVar dbSNP |