OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48446754_48446769delinsTTCAACTG | CA2695220258 | FBN1 | c.5725_5740delinsCAGTTGAA (p.Ile1909GlnfsTer16) n.4399_4414delinsCAGTTGAA c.724_739delinsCAGTTGAA (p.Ile242GlnfsTer16) c.*1488_*1503delinsCAGTTGAA (n.*1488_*1503delinsCAGTTGAA) c.1032_1047delinsCAGTTGAA | |
| 15 | g.48446769T>A | CA392341268 | FBN1 | c.5725A>T (p.Ile1909Phe) n.4399A>T c.724A>T (p.Ile242Phe) c.*1488A>T (n.*1488A>T) c.1032A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446769T>C | CA269533742 | FBN1 | c.5725A>G (p.Ile1909Val) n.4399A>G c.724A>G (p.Ile242Val) c.*1488A>G (n.*1488A>G) c.1032A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446769T>G | CA10587810 | FBN1 | c.5725A>C (p.Ile1909Leu) n.4399A>C c.724A>C (p.Ile242Leu) c.*1488A>C (n.*1488A>C) c.1032A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446769T= | CA2175495137 | FBN1 | c.5725A= (p.Ile1909=) n.4399A= c.724A= (p.Ile242=) c.*1488A= (n.*1488A=) c.1032A= | |
| 15 | g.48446770T>A | CA490022997 | FBN1 | c.5724A>T (p.Thr1908=) n.4398A>T c.723A>T (p.Thr241=) c.*1487A>T (n.*1487A>T) c.1031A>T | |
| 15 | g.48446770T>C | CA055450 | FBN1 | c.5724A>G (p.Thr1908=) n.4398A>G c.723A>G (p.Thr241=) c.*1487A>G (n.*1487A>G) c.1031A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446770T>G | CA490022998 | FBN1 | c.5724A>C (p.Thr1908=) n.4398A>C c.723A>C (p.Thr241=) c.*1487A>C (n.*1487A>C) c.1031A>C | |
| 15 | g.48446770T= | CA2175495181 | FBN1 | c.5724A= (p.Thr1908=) n.4398A= c.723A= (p.Thr241=) c.*1487A= (n.*1487A=) c.1031A= | |
| 15 | g.48446771G>A | CA392341272 | FBN1 | c.5723C>T (p.Thr1908Ile) n.4397C>T c.722C>T (p.Thr241Ile) c.*1486C>T (n.*1486C>T) c.1030C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446771G>C | CA392341273 | FBN1 | c.5723C>G (p.Thr1908Arg) n.4397C>G c.722C>G (p.Thr241Arg) c.*1486C>G (n.*1486C>G) c.1030C>G | COSMIC |
| 15 | g.48446771G= | CA2175495195 | FBN1 | c.5723C= (p.Thr1908=) n.4397C= c.722C= (p.Thr241=) c.*1486C= (n.*1486C=) c.1030C= | |
| 15 | g.48446771G>T | CA392341275 | FBN1 | c.5723C>A (p.Thr1908Lys) n.4397C>A c.722C>A (p.Thr241Lys) c.*1486C>A (n.*1486C>A) c.1030C>A | |
| 15 | g.48446772del | CA2695220263 | FBN1 | c.5722del (p.Thr1908GlnfsTer22) n.4396del c.721del (p.Thr241GlnfsTer22) c.*1485del (n.*1485del) c.1029del | |
| 15 | g.48446772T>A | CA392341278 | FBN1 | c.5722A>T (p.Thr1908Ser) n.4396A>T c.721A>T (p.Thr241Ser) c.*1485A>T (n.*1485A>T) c.1029A>T | |
| 15 | g.48446772T>C | CA392341279 | FBN1 | c.5722A>G (p.Thr1908Ala) n.4396A>G c.721A>G (p.Thr241Ala) c.*1485A>G (n.*1485A>G) c.1029A>G | |
| 15 | g.48446772T>G | CA392341281 | FBN1 | c.5722A>C (p.Thr1908Pro) n.4396A>C c.721A>C (p.Thr241Pro) c.*1485A>C (n.*1485A>C) c.1029A>C | ClinVar dbSNP |
| 15 | g.48446772T= | CA2175495203 | FBN1 | c.5722A= (p.Thr1908=) n.4396A= c.721A= (p.Thr241=) c.*1485A= (n.*1485A=) c.1029A= | |
| 15 | g.48446773G>A | CA490022999 | FBN1 | c.5721C>T (p.Asn1907=) n.4395C>T c.720C>T (p.Asn240=) c.*1484C>T (n.*1484C>T) c.1028C>T | ClinVar dbSNP |
| 15 | g.48446773G>C | CA015998 | FBN1 | c.5721C>G (p.Asn1907Lys) n.4395C>G c.720C>G (p.Asn240Lys) c.*1484C>G (n.*1484C>G) c.1028C>G | ClinVar dbSNP |
| 15 | g.48446773G= | CA2175495215 | FBN1 | c.5721C= (p.Asn1907=) n.4395C= c.720C= (p.Asn240=) c.*1484C= (n.*1484C=) c.1028C= | |
| 15 | g.48446773G>T | CA392341284 | FBN1 | c.5721C>A (p.Asn1907Lys) n.4395C>A c.720C>A (p.Asn240Lys) c.*1484C>A (n.*1484C>A) c.1028C>A | |
| 15 | g.48446773_48446774delinsGT | CA2175495226 | FBN1 | c.5720_5721delinsAC (p.Asn1907=) n.4394_4395delinsAC c.719_720delinsAC (p.Asn240=) c.*1483_*1484delinsAC (n.*1483_*1484delinsAC) c.1027_1028delinsAC | |
| 15 | g.48446774T>A | CA392341287 | FBN1 | c.5720A>T (p.Asn1907Ile) n.4394A>T c.719A>T (p.Asn240Ile) c.*1483A>T (n.*1483A>T) c.1027A>T | |
| 15 | g.48446774T>C | CA16614507 | FBN1 | c.5720A>G (p.Asn1907Ser) n.4394A>G c.719A>G (p.Asn240Ser) c.*1483A>G (n.*1483A>G) c.1027A>G | ClinVar dbSNP |
| 15 | g.48446774T>G | CA392341288 | FBN1 | c.5720A>C (p.Asn1907Thr) n.4394A>C c.719A>C (p.Asn240Thr) c.*1483A>C (n.*1483A>C) c.1027A>C | |
| 15 | g.48446774T= | CA2175495239 | FBN1 | c.5720A= (p.Asn1907=) n.4394A= c.719A= (p.Asn240=) c.*1483A= (n.*1483A=) c.1027A= | |
| 15 | g.48446775del | CA10587809 | FBN1 | c.5720del (p.Asn1907ThrfsTer23) n.4394del c.719del (p.Asn240ThrfsTer23) c.*1483del (n.*1483del) c.1027del | ClinVar dbSNP |
| 15 | g.48446775T>A | CA392341292 | FBN1 | c.5719A>T (p.Asn1907Tyr) n.4393A>T c.718A>T (p.Asn240Tyr) c.*1482A>T (n.*1482A>T) c.1026A>T | |
| 15 | g.48446775T>C | CA015987 | FBN1 | c.5719A>G (p.Asn1907Asp) n.4393A>G c.718A>G (p.Asn240Asp) c.*1482A>G (n.*1482A>G) c.1026A>G | ClinVar dbSNP |
| 15 | g.48446775T>G | CA392341290 | FBN1 | c.5719A>C (p.Asn1907His) n.4393A>C c.718A>C (p.Asn240His) c.*1482A>C (n.*1482A>C) c.1026A>C | |
| 15 | g.48446775T= | CA2175495250 | FBN1 | c.5719A= (p.Asn1907=) n.4393A= c.718A= (p.Asn240=) c.*1482A= (n.*1482A=) c.1026A= | |
| 15 | g.48446776C>A | CA490023000 | FBN1 | c.5718G>T (p.Arg1906=) n.4392G>T c.717G>T (p.Arg239=) c.*1481G>T (n.*1481G>T) c.1025G>T | |
| 15 | g.48446776C= | CA2175495252 | FBN1 | c.5718G= (p.Arg1906=) n.4392G= c.717G= (p.Arg239=) c.*1481G= (n.*1481G=) c.1025G= | |
| 15 | g.48446776C>G | CA490023001 | FBN1 | c.5718G>C (p.Arg1906=) n.4392G>C c.717G>C (p.Arg239=) c.*1481G>C (n.*1481G>C) c.1025G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446776C>T | CA490023002 | FBN1 | c.5718G>A (p.Arg1906=) n.4392G>A c.717G>A (p.Arg239=) c.*1481G>A (n.*1481G>A) c.1025G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446777del | CA2695220265 | FBN1 | c.5718del (p.Asn1907ThrfsTer23) n.4392del c.717del (p.Asn240ThrfsTer23) c.*1481del (n.*1481del) c.1025del | |
| 15 | g.48446777C>A | CA392341294 | FBN1 | c.5717G>T (p.Arg1906Leu) n.4391G>T c.716G>T (p.Arg239Leu) c.*1480G>T (n.*1480G>T) c.1024G>T | |
| 15 | g.48446777C= | CA2175495269 | FBN1 | c.5717G= (p.Arg1906=) n.4391G= c.716G= (p.Arg239=) c.*1480G= (n.*1480G=) c.1024G= | |
| 15 | g.48446777C>G | CA392341295 | FBN1 | c.5717G>C (p.Arg1906Pro) n.4391G>C c.716G>C (p.Arg239Pro) c.*1480G>C (n.*1480G>C) c.1024G>C | |
| 15 | g.48446777C>T | CA055444 | FBN1 | c.5717G>A (p.Arg1906Gln) n.4391G>A c.716G>A (p.Arg239Gln) c.*1480G>A (n.*1480G>A) c.1024G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48446778G>A | CA055439 | FBN1 | c.5716C>T (p.Arg1906Trp) n.4390C>T c.715C>T (p.Arg239Trp) c.*1479C>T (n.*1479C>T) c.1023C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446778G>C | CA392341300 | FBN1 | c.5716C>G (p.Arg1906Gly) n.4390C>G c.715C>G (p.Arg239Gly) c.*1479C>G (n.*1479C>G) c.1023C>G | ClinVar dbSNP |
| 15 | g.48446778G= | CA2175495273 | FBN1 | c.5716C= (p.Arg1906=) n.4390C= c.715C= (p.Arg239=) c.*1479C= (n.*1479C=) c.1023C= | |
| 15 | g.48446778G>T | CA490023003 | FBN1 | c.5716C>A (p.Arg1906=) n.4390C>A c.715C>A (p.Arg239=) c.*1479C>A (n.*1479C>A) c.1023C>A | |
| 15 | g.48446779del | CA2499222980 | FBN1 | c.5716del (p.Arg1906GlyfsTer24) n.4390del c.715del (p.Arg239GlyfsTer24) c.*1479del (n.*1479del) c.1023del | ClinVar dbSNP |
| 15 | g.48446779G>A | CA490023004 | FBN1 | c.5715C>T (p.Cys1905=) n.4389C>T c.714C>T (p.Cys238=) c.*1478C>T (n.*1478C>T) c.1022C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446779G>C | CA392341302 | FBN1 | c.5715C>G (p.Cys1905Trp) n.4389C>G c.714C>G (p.Cys238Trp) c.*1478C>G (n.*1478C>G) c.1022C>G | |
| 15 | g.48446779G= | CA2175495281 | FBN1 | c.5715C= (p.Cys1905=) n.4389C= c.714C= (p.Cys238=) c.*1478C= (n.*1478C=) c.1022C= | |
| 15 | g.48446779G>T | CA392341303 | FBN1 | c.5715C>A (p.Cys1905Ter) n.4389C>A c.714C>A (p.Cys238Ter) c.*1478C>A (n.*1478C>A) c.1022C>A | |
| 15 | g.48446780C>A | CA392341306 | FBN1 | c.5714G>T (p.Cys1905Phe) n.4388G>T c.713G>T (p.Cys238Phe) c.*1477G>T (n.*1477G>T) c.1021G>T | ClinVar |
| 15 | g.48446780C= | CA2175495287 | FBN1 | c.5714G= (p.Cys1905=) n.4388G= c.713G= (p.Cys238=) c.*1477G= (n.*1477G=) c.1021G= | |
| 15 | g.48446780C>G | CA269533790 | FBN1 | c.5714G>C (p.Cys1905Ser) n.4388G>C c.713G>C (p.Cys238Ser) c.*1477G>C (n.*1477G>C) c.1021G>C | ClinVar dbSNP |
| 15 | g.48446780C>T | CA392341308 | FBN1 | c.5714G>A (p.Cys1905Tyr) n.4388G>A c.713G>A (p.Cys238Tyr) c.*1477G>A (n.*1477G>A) c.1021G>A | |
| 15 | g.48446781A>C | CA392341309 | FBN1 | c.5713T>G (p.Cys1905Gly) n.4387T>G c.712T>G (p.Cys238Gly) c.*1476T>G (n.*1476T>G) c.1020T>G | |
| 15 | g.48446781A>G | CA392341312 | FBN1 | c.5713T>C (p.Cys1905Arg) n.4387T>C c.712T>C (p.Cys238Arg) c.*1476T>C (n.*1476T>C) c.1020T>C | |
| 15 | g.48446781A>T | CA392341314 | FBN1 | c.5713T>A (p.Cys1905Ser) n.4387T>A c.712T>A (p.Cys238Ser) c.*1476T>A (n.*1476T>A) c.1020T>A | |
| 15 | g.48446782A>C | CA490023007 | FBN1 | c.5712T>G (p.Thr1904=) n.4386T>G c.711T>G (p.Thr237=) c.*1475T>G (n.*1475T>G) c.1019T>G | |
| 15 | g.48446782A>G | CA490023005 | FBN1 | c.5712T>C (p.Thr1904=) n.4386T>C c.711T>C (p.Thr237=) c.*1475T>C (n.*1475T>C) c.1019T>C | |
| 15 | g.48446782A>T | CA490023006 | FBN1 | c.5712T>A (p.Thr1904=) n.4386T>A c.711T>A (p.Thr237=) c.*1475T>A (n.*1475T>A) c.1019T>A | |
| 15 | g.48446783G>A | CA392341317 | FBN1 | c.5711C>T (p.Thr1904Ile) n.4385C>T c.710C>T (p.Thr237Ile) c.*1474C>T (n.*1474C>T) c.1018C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446783G>C | CA392341319 | FBN1 | c.5711C>G (p.Thr1904Ser) n.4385C>G c.710C>G (p.Thr237Ser) c.*1474C>G (n.*1474C>G) c.1018C>G | |
| 15 | g.48446783G= | CA2175495289 | FBN1 | c.5711C= (p.Thr1904=) n.4385C= c.710C= (p.Thr237=) c.*1474C= (n.*1474C=) c.1018C= | |
| 15 | g.48446783G>T | CA392341315 | FBN1 | c.5711C>A (p.Thr1904Asn) n.4385C>A c.710C>A (p.Thr237Asn) c.*1474C>A (n.*1474C>A) c.1018C>A | |
| 15 | g.48446784T>A | CA392341321 | FBN1 | c.5710A>T (p.Thr1904Ser) n.4384A>T c.709A>T (p.Thr237Ser) c.*1473A>T (n.*1473A>T) c.1017A>T | |
| 15 | g.48446784T>C | CA392341323 | FBN1 | c.5710A>G (p.Thr1904Ala) n.4384A>G c.709A>G (p.Thr237Ala) c.*1473A>G (n.*1473A>G) c.1017A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446784T>G | CA392341325 | FBN1 | c.5710A>C (p.Thr1904Pro) n.4384A>C c.709A>C (p.Thr237Pro) c.*1473A>C (n.*1473A>C) c.1017A>C | |
| 15 | g.48446784T= | CA2175495296 | FBN1 | c.5710A= (p.Thr1904=) n.4384A= c.709A= (p.Thr237=) c.*1473A= (n.*1473A=) c.1017A= | |
| 15 | g.48446785T>A | CA490023008 | FBN1 | c.5709A>T (p.Gly1903=) n.4383A>T c.708A>T (p.Gly236=) c.*1472A>T (n.*1472A>T) c.1016A>T | |
| 15 | g.48446785T>C | CA490023009 | FBN1 | c.5709A>G (p.Gly1903=) n.4383A>G c.708A>G (p.Gly236=) c.*1472A>G (n.*1472A>G) c.1016A>G | |
| 15 | g.48446785T>G | CA490023010 | FBN1 | c.5709A>C (p.Gly1903=) n.4383A>C c.708A>C (p.Gly236=) c.*1472A>C (n.*1472A>C) c.1016A>C | |
| 15 | g.48446786C>A | CA392341327 | FBN1 | c.5708G>T (p.Gly1903Val) n.4382G>T c.707G>T (p.Gly236Val) c.*1471G>T (n.*1471G>T) c.1015G>T | ClinVar |
| 15 | g.48446786C>G | CA392341328 | FBN1 | c.5708G>C (p.Gly1903Ala) n.4382G>C c.707G>C (p.Gly236Ala) c.*1471G>C (n.*1471G>C) c.1015G>C | |
| 15 | g.48446786C>T | CA392341330 | FBN1 | c.5708G>A (p.Gly1903Glu) n.4382G>A c.707G>A (p.Gly236Glu) c.*1471G>A (n.*1471G>A) c.1015G>A | |
| 15 | g.48446787C>A | CA392341332 | FBN1 | c.5707G>T (p.Gly1903Ter) n.4381G>T c.706G>T (p.Gly236Ter) c.*1470G>T (n.*1470G>T) c.1014G>T | |
| 15 | g.48446787C>G | CA392341334 | FBN1 | c.5707G>C (p.Gly1903Arg) n.4381G>C c.706G>C (p.Gly236Arg) c.*1470G>C (n.*1470G>C) c.1014G>C | |
| 15 | g.48446787C>T | CA392341335 | FBN1 | c.5707G>A (p.Gly1903Arg) n.4381G>A c.706G>A (p.Gly236Arg) c.*1470G>A (n.*1470G>A) c.1014G>A | |
| 15 | g.48446788A= | CA2175495303 | FBN1 | c.5706T= (p.Asn1902=) n.4380T= c.705T= (p.Asn235=) c.*1469T= (n.*1469T=) c.1013T= | |
| 15 | g.48446788A>C | CA392341337 | FBN1 | c.5706T>G (p.Asn1902Lys) n.4380T>G c.705T>G (p.Asn235Lys) c.*1469T>G (n.*1469T>G) c.1013T>G | |
| 15 | g.48446788A>G | CA490023011 | FBN1 | c.5706T>C (p.Asn1902=) n.4380T>C c.705T>C (p.Asn235=) c.*1469T>C (n.*1469T>C) c.1013T>C | ClinVar dbSNP |
| 15 | g.48446788A>T | CA392341338 | FBN1 | c.5706T>A (p.Asn1902Lys) n.4380T>A c.705T>A (p.Asn235Lys) c.*1469T>A (n.*1469T>A) c.1013T>A | |
| 15 | g.48446789T>A | CA392341343 | FBN1 | c.5705A>T (p.Asn1902Ile) n.4379A>T c.704A>T (p.Asn235Ile) c.*1468A>T (n.*1468A>T) c.1012A>T | |
| 15 | g.48446789T>C | CA392341342 | FBN1 | c.5705A>G (p.Asn1902Ser) n.4379A>G c.704A>G (p.Asn235Ser) c.*1468A>G (n.*1468A>G) c.1012A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446789T>G | CA392341340 | FBN1 | c.5705A>C (p.Asn1902Thr) n.4379A>C c.704A>C (p.Asn235Thr) c.*1468A>C (n.*1468A>C) c.1012A>C | |
| 15 | g.48446789T= | CA2175495310 | FBN1 | c.5705A= (p.Asn1902=) n.4379A= c.704A= (p.Asn235=) c.*1468A= (n.*1468A=) c.1012A= | |
| 15 | g.48446790T>A | CA392341346 | FBN1 | c.5704A>T (p.Asn1902Tyr) n.4378A>T c.703A>T (p.Asn235Tyr) c.*1467A>T (n.*1467A>T) c.1011A>T | |
| 15 | g.48446790T>C | CA392341347 | FBN1 | c.5704A>G (p.Asn1902Asp) n.4378A>G c.703A>G (p.Asn235Asp) c.*1467A>G (n.*1467A>G) c.1011A>G | |
| 15 | g.48446790T>G | CA392341349 | FBN1 | c.5704A>C (p.Asn1902His) n.4378A>C c.703A>C (p.Asn235His) c.*1467A>C (n.*1467A>C) c.1011A>C | |
| 15 | g.48446791C>A | CA490023012 | FBN1 | c.5703G>T (p.Gly1901=) n.4377G>T c.702G>T (p.Gly234=) c.*1466G>T (n.*1466G>T) c.1010G>T | dbSNP |
| 15 | g.48446791C= | CA2175495314 | FBN1 | c.5703G= (p.Gly1901=) n.4377G= c.702G= (p.Gly234=) c.*1466G= (n.*1466G=) c.1010G= | |
| 15 | g.48446791C>G | CA490023013 | FBN1 | c.5703G>C (p.Gly1901=) n.4377G>C c.702G>C (p.Gly234=) c.*1466G>C (n.*1466G>C) c.1010G>C | gnomAD v4 |
| 15 | g.48446791C>T | CA490023014 | FBN1 | c.5703G>A (p.Gly1901=) n.4377G>A c.702G>A (p.Gly234=) c.*1466G>A (n.*1466G>A) c.1010G>A | |
| 15 | g.48446793del | CA2580089695 | FBN1 | c.5703del (p.Asn1902MetfsTer28) n.4377del c.702del (p.Asn235MetfsTer28) c.*1466del (n.*1466del) c.1010del | ClinVar gnomAD v4 |
| 15 | g.48446792C>A | CA392341351 | FBN1 | c.5702G>T (p.Gly1901Val) n.4376G>T c.701G>T (p.Gly234Val) c.*1465G>T (n.*1465G>T) c.1009G>T | |
| 15 | g.48446792C>G | CA392341352 | FBN1 | c.5702G>C (p.Gly1901Ala) n.4376G>C c.701G>C (p.Gly234Ala) c.*1465G>C (n.*1465G>C) c.1009G>C | |
| 15 | g.48446792C>T | CA392341353 | FBN1 | c.5702G>A (p.Gly1901Glu) n.4376G>A c.701G>A (p.Gly234Glu) c.*1465G>A (n.*1465G>A) c.1009G>A | |
| 15 | g.48446793C>A | CA392341354 | FBN1 | c.5701G>T (p.Gly1901Trp) n.4375G>T c.700G>T (p.Gly234Trp) c.*1464G>T (n.*1464G>T) c.1008G>T | |
| 15 | g.48446793C>G | CA392341357 | FBN1 | c.5701G>C (p.Gly1901Arg) n.4375G>C c.700G>C (p.Gly234Arg) c.*1464G>C (n.*1464G>C) c.1008G>C | |
| 15 | g.48446793C>T | CA392341358 | FBN1 | c.5701G>A (p.Gly1901Arg) n.4375G>A c.700G>A (p.Gly234Arg) c.*1464G>A (n.*1464G>A) c.1008G>A | |
| 15 | g.48446794A= | CA2175495320 | FBN1 | c.5700T= (p.Cys1900=) n.4374T= c.699T= (p.Cys233=) c.*1463T= (n.*1463T=) c.1007T= | |
| 15 | g.48446794A>C | CA392341360 | FBN1 | c.5700T>G (p.Cys1900Trp) n.4374T>G c.699T>G (p.Cys233Trp) c.*1463T>G (n.*1463T>G) c.1007T>G | ClinVar |
| 15 | g.48446794A>G | CA490023015 | FBN1 | c.5700T>C (p.Cys1900=) n.4374T>C c.699T>C (p.Cys233=) c.*1463T>C (n.*1463T>C) c.1007T>C | |
| 15 | g.48446794A>T | CA015978 | FBN1 | c.5700T>A (p.Cys1900Ter) n.4374T>A c.699T>A (p.Cys233Ter) c.*1463T>A (n.*1463T>A) c.1007T>A | ClinVar dbSNP |
| 15 | g.48446795C>A | CA392341366 | FBN1 | c.5699G>T (p.Cys1900Phe) n.4373G>T c.698G>T (p.Cys233Phe) c.*1462G>T (n.*1462G>T) c.1006G>T | ClinVar dbSNP |
| 15 | g.48446795C= | CA2175495324 | FBN1 | c.5699G= (p.Cys1900=) n.4373G= c.698G= (p.Cys233=) c.*1462G= (n.*1462G=) c.1006G= | |
| 15 | g.48446795C>G | CA392341364 | FBN1 | c.5699G>C (p.Cys1900Ser) n.4373G>C c.698G>C (p.Cys233Ser) c.*1462G>C (n.*1462G>C) c.1006G>C | |
| 15 | g.48446795C>T | CA015955 | FBN1 | c.5699G>A (p.Cys1900Tyr) n.4373G>A c.698G>A (p.Cys233Tyr) c.*1462G>A (n.*1462G>A) c.1006G>A | ClinVar dbSNP |
| 15 | g.48446796A= | CA2175495336 | FBN1 | c.5698T= (p.Cys1900=) n.4372T= c.697T= (p.Cys233=) c.*1461T= (n.*1461T=) c.1005T= | |
| 15 | g.48446796A>C | CA392341367 | FBN1 | c.5698T>G (p.Cys1900Gly) n.4372T>G c.697T>G (p.Cys233Gly) c.*1461T>G (n.*1461T>G) c.1005T>G | |
| 15 | g.48446796A>G | CA392341371 | FBN1 | c.5698T>C (p.Cys1900Arg) n.4372T>C c.697T>C (p.Cys233Arg) c.*1461T>C (n.*1461T>C) c.1005T>C | ClinVar |
| 15 | g.48446796A>T | CA392341369 | FBN1 | c.5698T>A (p.Cys1900Ser) n.4372T>A c.697T>A (p.Cys233Ser) c.*1461T>A (n.*1461T>A) c.1005T>A | ClinVar dbSNP |
| 15 | g.48446797G>A | CA055434 | FBN1 | c.5697C>T (p.Ala1899=) n.4371C>T c.696C>T (p.Ala232=) c.*1460C>T (n.*1460C>T) c.1004C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446797G>C | CA490023016 | FBN1 | c.5697C>G (p.Ala1899=) n.4371C>G c.696C>G (p.Ala232=) c.*1460C>G (n.*1460C>G) c.1004C>G | |
| 15 | g.48446797G= | CA2175495346 | FBN1 | c.5697C= (p.Ala1899=) n.4371C= c.696C= (p.Ala232=) c.*1460C= (n.*1460C=) c.1004C= | |
| 15 | g.48446797G>T | CA490023017 | FBN1 | c.5697C>A (p.Ala1899=) n.4371C>A c.696C>A (p.Ala232=) c.*1460C>A (n.*1460C>A) c.1004C>A | |
| 15 | g.48446798G>A | CA392341374 | FBN1 | c.5696C>T (p.Ala1899Val) n.4370C>T c.695C>T (p.Ala232Val) c.*1459C>T (n.*1459C>T) c.1003C>T | dbSNP gnomAD v2 |
| 15 | g.48446798G>C | CA392341376 | FBN1 | c.5696C>G (p.Ala1899Gly) n.4370C>G c.695C>G (p.Ala232Gly) c.*1459C>G (n.*1459C>G) c.1003C>G | gnomAD v4 |
| 15 | g.48446798G= | CA2175495351 | FBN1 | c.5696C= (p.Ala1899=) n.4370C= c.695C= (p.Ala232=) c.*1459C= (n.*1459C=) c.1003C= | |
| 15 | g.48446798G>T | CA392341378 | FBN1 | c.5696C>A (p.Ala1899Asp) n.4370C>A c.695C>A (p.Ala232Asp) c.*1459C>A (n.*1459C>A) c.1003C>A | |
| 15 | g.48446798_48446799delinsGC | CA2175495355 | FBN1 | c.5695_5696delinsGC (p.Ala1899=) n.4369_4370delinsGC c.694_695delinsGC (p.Ala232=) c.*1458_*1459delinsGC (n.*1458_*1459delinsGC) c.1002_1003delinsGC | |
| 15 | g.48446799del | CA1139663932 | FBN1 | c.5695del (p.Ala1899ProfsTer?) n.4369del c.694del (p.Ala232ProfsTer?) c.*1458del (n.*1458del) c.1002del | ClinVar dbSNP |
| 15 | g.48446799C>A | CA392341380 | FBN1 | c.5695G>T (p.Ala1899Ser) n.4369G>T c.694G>T (p.Ala232Ser) c.*1458G>T (n.*1458G>T) c.1002G>T | |
| 15 | g.48446799C= | CA2175495369 | FBN1 | c.5695G= (p.Ala1899=) n.4369G= c.694G= (p.Ala232=) c.*1458G= (n.*1458G=) c.1002G= | |
| 15 | g.48446799C>G | CA392341382 | FBN1 | c.5695G>C (p.Ala1899Pro) n.4369G>C c.694G>C (p.Ala232Pro) c.*1458G>C (n.*1458G>C) c.1002G>C | |
| 15 | g.48446799C>T | CA392341383 | FBN1 | c.5695G>A (p.Ala1899Thr) n.4369G>A c.694G>A (p.Ala232Thr) c.*1458G>A (n.*1458G>A) c.1002G>A | dbSNP |
| 15 | g.48446800A>C | CA392341385 | FBN1 | c.5694T>G (p.Asp1898Glu) n.4368T>G c.693T>G (p.Asp231Glu) c.*1457T>G (n.*1457T>G) c.1001T>G | |
| 15 | g.48446800A>G | CA490023018 | FBN1 | c.5694T>C (p.Asp1898=) n.4368T>C c.693T>C (p.Asp231=) c.*1457T>C (n.*1457T>C) c.1001T>C | gnomAD v4 |
| 15 | g.48446800A>T | CA392341387 | FBN1 | c.5694T>A (p.Asp1898Glu) n.4368T>A c.693T>A (p.Asp231Glu) c.*1457T>A (n.*1457T>A) c.1001T>A | gnomAD v4 |
| 15 | g.48446801del | CA2695220268 | FBN1 | c.5693del (p.Asp1898ValfsTer?) n.4367del c.692del (p.Asp231ValfsTer?) c.*1456del (n.*1456del) c.1000del | |
| 15 | g.48446801T>A | CA392341389 | FBN1 | c.5693A>T (p.Asp1898Val) n.4367A>T c.692A>T (p.Asp231Val) c.*1456A>T (n.*1456A>T) c.1000A>T | |
| 15 | g.48446801T>C | CA055429 | FBN1 | c.5693A>G (p.Asp1898Gly) n.4367A>G c.692A>G (p.Asp231Gly) c.*1456A>G (n.*1456A>G) c.1000A>G | dbSNP ExAC gnomAD v2 |
| 15 | g.48446801T>G | CA392341391 | FBN1 | c.5693A>C (p.Asp1898Ala) n.4367A>C c.692A>C (p.Asp231Ala) c.*1456A>C (n.*1456A>C) c.1000A>C | |
| 15 | g.48446801T= | CA2175495373 | FBN1 | c.5693A= (p.Asp1898=) n.4367A= c.692A= (p.Asp231=) c.*1456A= (n.*1456A=) c.1000A= | |
| 15 | g.48446802C>A | CA392341393 | FBN1 | c.5692G>T (p.Asp1898Tyr) n.4366G>T c.691G>T (p.Asp231Tyr) c.*1455G>T (n.*1455G>T) c.999G>T | ClinVar gnomAD v4 |
| 15 | g.48446802C>G | CA392341397 | FBN1 | c.5692G>C (p.Asp1898His) n.4366G>C c.691G>C (p.Asp231His) c.*1455G>C (n.*1455G>C) c.999G>C | |
| 15 | g.48446802C>T | CA392341395 | FBN1 | c.5692G>A (p.Asp1898Asn) n.4366G>A c.691G>A (p.Asp231Asn) c.*1455G>A (n.*1455G>A) c.999G>A | |
| 15 | g.48446802_48446806delinsCTCTT | CA2175495380 | FBN1 | c.5688_5692delinsAAGAG (p.Glu1896=) n.4362_4366delinsAAGAG c.687_691delinsAAGAG (p.Glu229=) c.*1451_*1455delinsAAGAG (n.*1451_*1455delinsAAGAG) c.995_999delinsAAGAG | |
| 15 | g.48446803T>A | CA392341398 | FBN1 | c.5691A>T (p.Arg1897Ser) n.4365A>T c.690A>T (p.Arg230Ser) c.*1454A>T (n.*1454A>T) c.998A>T | |
| 15 | g.48446803T>C | CA490023019 | FBN1 | c.5691A>G (p.Arg1897=) n.4365A>G c.690A>G (p.Arg230=) c.*1454A>G (n.*1454A>G) c.998A>G | |
| 15 | g.48446803T>G | CA392341399 | FBN1 | c.5691A>C (p.Arg1897Ser) n.4365A>C c.690A>C (p.Arg230Ser) c.*1454A>C (n.*1454A>C) c.998A>C | |
| 15 | g.48446805_48446808del | CA891844489 | FBN1 | c.5688_5691del (p.Arg1897MetfsTer?) n.4362_4365del c.687_690del (p.Arg230MetfsTer?) c.*1451_*1454del (n.*1451_*1454del) c.995_998del | ClinVar dbSNP |
| 15 | g.48446804C>A | CA392341402 | FBN1 | c.5690G>T (p.Arg1897Ile) n.4364G>T c.689G>T (p.Arg230Ile) c.*1453G>T (n.*1453G>T) c.997G>T | |
| 15 | g.48446804C>G | CA392341403 | FBN1 | c.5690G>C (p.Arg1897Thr) n.4364G>C c.689G>C (p.Arg230Thr) c.*1453G>C (n.*1453G>C) c.997G>C | |
| 15 | g.48446804C>T | CA392341405 | FBN1 | c.5690G>A (p.Arg1897Lys) n.4364G>A c.689G>A (p.Arg230Lys) c.*1453G>A (n.*1453G>A) c.997G>A | |
| 15 | g.48446804_48446806delinsCTT | CA2175495385 | FBN1 | c.5688_5690delinsAAG (p.Glu1896=) n.4362_4364delinsAAG c.687_689delinsAAG (p.Glu229=) c.*1451_*1453delinsAAG (n.*1451_*1453delinsAAG) c.995_997delinsAAG | |
| 15 | g.48446805T>A | CA392341408 | FBN1 | c.5689A>T (p.Arg1897Ter) n.4363A>T c.688A>T (p.Arg230Ter) c.*1452A>T (n.*1452A>T) c.996A>T | |
| 15 | g.48446805T>C | CA392341409 | FBN1 | c.5689A>G (p.Arg1897Gly) n.4363A>G c.688A>G (p.Arg230Gly) c.*1452A>G (n.*1452A>G) c.996A>G | |
| 15 | g.48446805T>G | CA490023020 | FBN1 | c.5689A>C (p.Arg1897=) n.4363A>C c.688A>C (p.Arg230=) c.*1452A>C (n.*1452A>C) c.996A>C | gnomAD v4 |
| 15 | g.48446806_48446807del | CA658824296 | FBN1 | c.5688_5689del (p.Asp1898CysfsTer?) n.4362_4363del c.687_688del (p.Asp231CysfsTer?) c.*1451_*1452del (n.*1451_*1452del) c.995_996del | ClinVar dbSNP |
| 15 | g.48446806T>A | CA392341411 | FBN1 | c.5688A>T (p.Glu1896Asp) n.4362A>T c.687A>T (p.Glu229Asp) c.*1451A>T (n.*1451A>T) c.995A>T | |
| 15 | g.48446806T>C | CA490023021 | FBN1 | c.5688A>G (p.Glu1896=) n.4362A>G c.687A>G (p.Glu229=) c.*1451A>G (n.*1451A>G) c.995A>G | ClinVar |
| 15 | g.48446806T>G | CA392341413 | FBN1 | c.5688A>C (p.Glu1896Asp) n.4362A>C c.687A>C (p.Glu229Asp) c.*1451A>C (n.*1451A>C) c.995A>C | |
| 15 | g.48446807T>A | CA392341416 | FBN1 | c.5687A>T (p.Glu1896Val) n.4361A>T c.686A>T (p.Glu229Val) c.*1450A>T (n.*1450A>T) c.994A>T | |
| 15 | g.48446807T>C | CA392341417 | FBN1 | c.5687A>G (p.Glu1896Gly) n.4361A>G c.686A>G (p.Glu229Gly) c.*1450A>G (n.*1450A>G) c.994A>G | |
| 15 | g.48446807T>G | CA392341414 | FBN1 | c.5687A>C (p.Glu1896Ala) n.4361A>C c.686A>C (p.Glu229Ala) c.*1450A>C (n.*1450A>C) c.994A>C | |
| 15 | g.48446807_48446808delinsTC | CA2175495392 | FBN1 | c.5686_5687delinsGA (p.Glu1896=) n.4360_4361delinsGA c.685_686delinsGA (p.Glu229=) c.*1449_*1450delinsGA (n.*1449_*1450delinsGA) c.993_994delinsGA | |
| 15 | g.48446808del | CA16619951 | FBN1 | c.5686del (p.Glu1896LysfsTer?) n.4360del c.685del (p.Glu229LysfsTer?) c.*1449del (n.*1449del) c.993del | ClinVar dbSNP |
| 15 | g.48446808C>A | CA392341419 | FBN1 | c.5686G>T (p.Glu1896Ter) n.4360G>T c.685G>T (p.Glu229Ter) c.*1449G>T (n.*1449G>T) c.993G>T | |
| 15 | g.48446808C>G | CA392341420 | FBN1 | c.5686G>C (p.Glu1896Gln) n.4360G>C c.685G>C (p.Glu229Gln) c.*1449G>C (n.*1449G>C) c.993G>C | |
| 15 | g.48446808C>T | CA392341423 | FBN1 | c.5686G>A (p.Glu1896Lys) n.4360G>A c.685G>A (p.Glu229Lys) c.*1449G>A (n.*1449G>A) c.993G>A | |
| 15 | g.48446809A>C | CA392341425 | FBN1 | c.5685T>G (p.Cys1895Trp) n.4359T>G c.684T>G (p.Cys228Trp) c.*1448T>G (n.*1448T>G) c.992T>G | |
| 15 | g.48446809A>G | CA490023023 | FBN1 | c.5685T>C (p.Cys1895=) n.4359T>C c.684T>C (p.Cys228=) c.*1448T>C (n.*1448T>C) c.992T>C | |
| 15 | g.48446809A>T | CA392341426 | FBN1 | c.5685T>A (p.Cys1895Ter) n.4359T>A c.684T>A (p.Cys228Ter) c.*1448T>A (n.*1448T>A) c.992T>A | |
| 15 | g.48446809_48446810delinsAC | CA2175495406 | FBN1 | c.5684_5685delinsGT (p.Cys1895=) n.4358_4359delinsGT c.683_684delinsGT (p.Cys228=) c.*1447_*1448delinsGT (n.*1447_*1448delinsGT) c.991_992delinsGT | |
| 15 | g.48446810del | CA658824297 | FBN1 | c.5684del (p.Cys1895LeufsTer?) n.4358del c.683del (p.Cys228LeufsTer?) c.*1447del (n.*1447del) c.991del | ClinVar dbSNP |
| 15 | g.48446810C>A | CA392341428 | FBN1 | c.5684G>T (p.Cys1895Phe) n.4358G>T c.683G>T (p.Cys228Phe) c.*1447G>T (n.*1447G>T) c.991G>T | |
| 15 | g.48446810C>G | CA392341430 | FBN1 | c.5684G>C (p.Cys1895Ser) n.4358G>C c.683G>C (p.Cys228Ser) c.*1447G>C (n.*1447G>C) c.991G>C | |
| 15 | g.48446810C>T | CA392341432 | FBN1 | c.5684G>A (p.Cys1895Tyr) n.4358G>A c.683G>A (p.Cys228Tyr) c.*1447G>A (n.*1447G>A) c.991G>A | ClinVar |
| 15 | g.48446811A= | CA2175495412 | FBN1 | c.5683T= (p.Cys1895=) n.4357T= c.682T= (p.Cys228=) c.*1446T= (n.*1446T=) c.990T= | |
| 15 | g.48446811A>C | CA392341433 | FBN1 | c.5683T>G (p.Cys1895Gly) n.4357T>G c.682T>G (p.Cys228Gly) c.*1446T>G (n.*1446T>G) c.990T>G | |
| 15 | g.48446811A>G | CA10583241 | FBN1 | c.5683T>C (p.Cys1895Arg) n.4357T>C c.682T>C (p.Cys228Arg) c.*1446T>C (n.*1446T>C) c.990T>C | ClinVar dbSNP |
| 15 | g.48446811A>T | CA392341434 | FBN1 | c.5683T>A (p.Cys1895Ser) n.4357T>A c.682T>A (p.Cys228Ser) c.*1446T>A (n.*1446T>A) c.990T>A | |
| 15 | g.48446811_48446812insAA | CA2695220271 | FBN1 | c.5683_5684insTT (p.Cys1895PhefsTer?) n.4357_4358insTT c.682_683insTT (p.Cys228PhefsTer?) c.*1446_*1447insTT (n.*1446_*1447insTT) c.990_991insTT | |
| 15 | g.48446812T>A | CA392341435 | FBN1 | c.5682A>T (p.Glu1894Asp) n.4356A>T c.681A>T (p.Glu227Asp) c.*1445A>T (n.*1445A>T) c.989A>T | |
| 15 | g.48446812T>C | CA490023024 | FBN1 | c.5682A>G (p.Glu1894=) n.4356A>G c.681A>G (p.Glu227=) c.*1445A>G (n.*1445A>G) c.989A>G | |
| 15 | g.48446812T>G | CA392341436 | FBN1 | c.5682A>C (p.Glu1894Asp) n.4356A>C c.681A>C (p.Glu227Asp) c.*1445A>C (n.*1445A>C) c.989A>C | |
| 15 | g.48446813T>A | CA392341439 | FBN1 | c.5681A>T (p.Glu1894Val) n.4355A>T c.680A>T (p.Glu227Val) c.*1444A>T (n.*1444A>T) c.988A>T | |
| 15 | g.48446813T>C | CA392341438 | FBN1 | c.5681A>G (p.Glu1894Gly) n.4355A>G c.680A>G (p.Glu227Gly) c.*1444A>G (n.*1444A>G) c.988A>G | |
| 15 | g.48446813T>G | CA392341437 | FBN1 | c.5681A>C (p.Glu1894Ala) n.4355A>C c.680A>C (p.Glu227Ala) c.*1444A>C (n.*1444A>C) c.988A>C | |
| 15 | g.48446814C>A | CA392341440 | FBN1 | c.5680G>T (p.Glu1894Ter) n.4354G>T c.679G>T (p.Glu227Ter) c.*1443G>T (n.*1443G>T) c.987G>T | |
| 15 | g.48446814C= | CA2175495421 | FBN1 | c.5680G= (p.Glu1894=) n.4354G= c.679G= (p.Glu227=) c.*1443G= (n.*1443G=) c.987G= | |
| 15 | g.48446814C>G | CA392341441 | FBN1 | c.5680G>C (p.Glu1894Gln) n.4354G>C c.679G>C (p.Glu227Gln) c.*1443G>C (n.*1443G>C) c.987G>C | |
| 15 | g.48446814C>T | CA16607803 | FBN1 | c.5680G>A (p.Glu1894Lys) n.4354G>A c.679G>A (p.Glu227Lys) c.*1443G>A (n.*1443G>A) c.987G>A | ClinVar dbSNP |
| 15 | g.48446815A= | CA2175495428 | FBN1 | c.5679T= (p.Asn1893=) n.4353T= c.678T= (p.Asn226=) c.*1442T= (n.*1442T=) c.986T= | |
| 15 | g.48446815A>C | CA392341442 | FBN1 | c.5679T>G (p.Asn1893Lys) n.4353T>G c.678T>G (p.Asn226Lys) c.*1442T>G (n.*1442T>G) c.986T>G | ClinVar dbSNP |
| 15 | g.48446815A>G | CA490023025 | FBN1 | c.5679T>C (p.Asn1893=) n.4353T>C c.678T>C (p.Asn226=) c.*1442T>C (n.*1442T>C) c.986T>C | |
| 15 | g.48446815A>T | CA392341443 | FBN1 | c.5679T>A (p.Asn1893Lys) n.4353T>A c.678T>A (p.Asn226Lys) c.*1442T>A (n.*1442T>A) c.986T>A | |
| 15 | g.48446817_48446820del | CA2695220273 | FBN1 | c.5676_5679del (p.Ile1892MetfsTer?) n.4350_4353del c.675_678del (p.Ile225MetfsTer?) c.*1439_*1442del (n.*1439_*1442del) c.983_986del | |
| 15 | g.48446816T>A | CA392341444 | FBN1 | c.5678A>T (p.Asn1893Ile) n.4352A>T c.677A>T (p.Asn226Ile) c.*1441A>T (n.*1441A>T) c.985A>T | |
| 15 | g.48446816T>C | CA392341445 | FBN1 | c.5678A>G (p.Asn1893Ser) n.4352A>G c.677A>G (p.Asn226Ser) c.*1441A>G (n.*1441A>G) c.985A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446816T>G | CA392341446 | FBN1 | c.5678A>C (p.Asn1893Thr) n.4352A>C c.677A>C (p.Asn226Thr) c.*1441A>C (n.*1441A>C) c.985A>C | |
| 15 | g.48446816T= | CA2175495432 | FBN1 | c.5678A= (p.Asn1893=) n.4352A= c.677A= (p.Asn226=) c.*1441A= (n.*1441A=) c.985A= | |
| 15 | g.48446817T>A | CA392341447 | FBN1 | c.5677A>T (p.Asn1893Tyr) n.4351A>T c.676A>T (p.Asn226Tyr) c.*1440A>T (n.*1440A>T) c.984A>T | |
| 15 | g.48446817T>C | CA392341448 | FBN1 | c.5677A>G (p.Asn1893Asp) n.4351A>G c.676A>G (p.Asn226Asp) c.*1440A>G (n.*1440A>G) c.984A>G | |
| 15 | g.48446817T>G | CA392341449 | FBN1 | c.5677A>C (p.Asn1893His) n.4351A>C c.676A>C (p.Asn226His) c.*1440A>C (n.*1440A>C) c.984A>C | |
| 15 | g.48446817_48446819delinsTTA | CA2175495438 | FBN1 | c.5675_5677delinsTAA (p.Ile1892=) n.4349_4351delinsTAA c.674_676delinsTAA (p.Ile225=) c.*1438_*1440delinsTAA (n.*1438_*1440delinsTAA) c.982_984delinsTAA | |
| 15 | g.48446818T>A | CA490023026 | FBN1 | c.5676A>T (p.Ile1892=) n.4350A>T c.675A>T (p.Ile225=) c.*1439A>T (n.*1439A>T) c.983A>T | |
| 15 | g.48446818T>C | CA392341450 | FBN1 | c.5676A>G (p.Ile1892Met) n.4350A>G c.675A>G (p.Ile225Met) c.*1439A>G (n.*1439A>G) c.983A>G | dbSNP |
| 15 | g.48446818T>G | CA490023027 | FBN1 | c.5676A>C (p.Ile1892=) n.4350A>C c.675A>C (p.Ile225=) c.*1439A>C (n.*1439A>C) c.983A>C | |
| 15 | g.48446818T= | CA2175495447 | FBN1 | c.5676A= (p.Ile1892=) n.4350A= c.675A= (p.Ile225=) c.*1439A= (n.*1439A=) c.983A= | |
| 15 | g.48446819_48446820del | CA915945986 | FBN1 | c.5675_5676del (p.Ile1892LysfsTer2) n.4349_4350del c.674_675del (p.Ile225LysfsTer2) c.*1438_*1439del (n.*1438_*1439del) c.982_983del | ClinVar dbSNP |
| 15 | g.48446819A>C | CA392341453 | FBN1 | c.5675T>G (p.Ile1892Arg) n.4349T>G c.674T>G (p.Ile225Arg) c.*1438T>G (n.*1438T>G) c.982T>G | |
| 15 | g.48446819A>G | CA392341452 | FBN1 | c.5675T>C (p.Ile1892Thr) n.4349T>C c.674T>C (p.Ile225Thr) c.*1438T>C (n.*1438T>C) c.982T>C | gnomAD v4 |
| 15 | g.48446819A>T | CA392341451 | FBN1 | c.5675T>A (p.Ile1892Lys) n.4349T>A c.674T>A (p.Ile225Lys) c.*1438T>A (n.*1438T>A) c.982T>A | |
| 15 | g.48446820del | CA2580089702 | FBN1 | c.5674del (p.Ile1892Ter) n.4348del c.673del (p.Ile225Ter) c.*1437del (n.*1437del) c.981del | ClinVar |
| 15 | g.48446820T>A | CA392341454 | FBN1 | c.5674A>T (p.Ile1892Leu) n.4348A>T c.673A>T (p.Ile225Leu) c.*1437A>T (n.*1437A>T) c.981A>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446820T>C | CA055412 | FBN1 | c.5674A>G (p.Ile1892Val) n.4348A>G c.673A>G (p.Ile225Val) c.*1437A>G (n.*1437A>G) c.981A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446820T>G | CA392341455 | FBN1 | c.5674A>C (p.Ile1892Leu) n.4348A>C c.673A>C (p.Ile225Leu) c.*1437A>C (n.*1437A>C) c.981A>C | |
| 15 | g.48446820T= | CA2175495486 | FBN1 | c.5674A= (p.Ile1892=) n.4348A= c.673A= (p.Ile225=) c.*1437A= (n.*1437A=) c.981A= | |
| 15 | g.48446820_48446824delinsAGTCA | CA891844490 | FBN1 | c.5672-2_5674delinsTGACT n.4346-2_4348delinsTGACT c.671-2_673delinsTGACT c.*1435-2_*1437delinsTGACT c.979-2_981delinsTGACT | dbSNP |
| 15 | g.48446820_48446824delinsTGTCT | CA2175495462 | FBN1 | c.5672-2_5674delinsAGACA n.4346-2_4348delinsAGACA c.671-2_673delinsAGACA c.*1435-2_*1437delinsAGACA c.979-2_981delinsAGACA | |
| 15 | g.48446821G>A | CA490023028 | FBN1 | c.5673C>T (p.Asp1891=) n.4347C>T c.672C>T (p.Asp224=) c.*1436C>T (n.*1436C>T) c.980C>T | gnomAD v4 |
| 15 | g.48446821G>C | CA392341456 | FBN1 | c.5673C>G (p.Asp1891Glu) n.4347C>G c.672C>G (p.Asp224Glu) c.*1436C>G (n.*1436C>G) c.980C>G | |
| 15 | g.48446821G>T | CA392341457 | FBN1 | c.5673C>A (p.Asp1891Glu) n.4347C>A c.672C>A (p.Asp224Glu) c.*1436C>A (n.*1436C>A) c.980C>A | gnomAD v4 |
| 15 | g.48446822T>A | CA392341458 | FBN1 | c.5672A>T (p.Asp1891Val) n.4346A>T c.671A>T (p.Asp224Val) c.*1435A>T (n.*1435A>T) c.979A>T | |
| 15 | g.48446822T>C | CA392341459 | FBN1 | c.5672A>G (p.Asp1891Gly) n.4346A>G c.671A>G (p.Asp224Gly) c.*1435A>G (n.*1435A>G) c.979A>G | ClinVar dbSNP |
| 15 | g.48446822T>G | CA392341460 | FBN1 | c.5672A>C (p.Asp1891Ala) n.4346A>C c.671A>C (p.Asp224Ala) c.*1435A>C (n.*1435A>C) c.979A>C | |
| 15 | g.48446822T= | CA2175495497 | FBN1 | c.5672A= (p.Asp1891=) n.4346A= c.671A= (p.Asp224=) c.*1435A= (n.*1435A=) c.979A= | |
| 15 | g.48446823C>A | CA392341461 | FBN1 | c.5672-1G>T (n.5672-1G>T) n.4346-1G>T c.671-1G>T (n.671-1G>T) c.*1435-1G>T (n.*1435-1G>T) c.979-1G>T | |
| 15 | g.48446823C= | CA2175495503 | FBN1 | c.5672-1G= (n.5672-1G=) n.4346-1G= c.671-1G= (n.671-1G=) c.*1435-1G= (n.*1435-1G=) c.979-1G= | |
| 15 | g.48446823C>G | CA392341462 | FBN1 | c.5672-1G>C (n.5672-1G>C) n.4346-1G>C c.671-1G>C (n.671-1G>C) c.*1435-1G>C (n.*1435-1G>C) c.979-1G>C | ClinVar dbSNP |
| 15 | g.48446823C>T | CA392341463 | FBN1 | c.5672-1G>A (n.5672-1G>A) n.4346-1G>A c.671-1G>A (n.671-1G>A) c.*1435-1G>A (n.*1435-1G>A) c.979-1G>A | ClinVar dbSNP |
| 15 | g.48446823_48446824insCAAGCACA | CA2628347784 | FBN1 | c.5672-2_5672-1insTGTGCTTG (n.5672-2_5672-1insTGTGCTTG) n.4346-2_4346-1insTGTGCTTG c.671-2_671-1insTGTGCTTG (n.671-2_671-1insTGTGCTTG) c.*1435-2_*1435-1insTGTGCTTG (n.*1435-2_*1435-1insTGTGCTTG) c.979-2_979-1insTGTGCTTG | gnomAD v4 |
| 15 | g.48446823_48446824insCAAGCACATGGTTTGGTCATCAT | CA2628347783 | FBN1 | c.5672-2_5672-1insATGATGACCAAACCATGTGCTTG (n.5672-2_5672-1insATGATGACCAAACCATGTGCTTG) n.4346-2_4346-1insATGATGACCAAACCATGTGCTTG c.671-2_671-1insATGATGACCAAACCATGTGCTTG (n.671-2_671-1insATGATGACCAAACCATGTGCTTG) c.*1435-2_*1435-1insATGATGACCAAACCATGTGCTTG (n.*1435-2_*1435-1insATGATGACCAAACCATGTGCTTG) c.979-2_979-1insATGATGACCAAACCATGTGCTTG | gnomAD v4 |
| 15 | g.48446823_48446824insCAAGCACATGGTTTGGTCATCATTTGTTT | CA617837424 | FBN1 | c.5672-2_5672-1insAAACAAATGATGACCAAACCATGTGCTTG (n.5672-2_5672-1insAAACAAATGATGACCAAACCATGTGCTTG) n.4346-2_4346-1insAAACAAATGATGACCAAACCATGTGCTTG c.671-2_671-1insAAACAAATGATGACCAAACCATGTGCTTG (n.671-2_671-1insAAACAAATGATGACCAAACCATGTGCTTG) c.*1435-2_*1435-1insAAACAAATGATGACCAAACCATGTGCTTG (n.*1435-2_*1435-1insAAACAAATGATGACCAAACCATGTGCTTG) c.979-2_979-1insAAACAAATGATGACCAAACCATGTGCTTG | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446824del | CA2695220275 | FBN1 | c.5672-2del (n.5672-2del) n.4346-2del c.671-2del (n.671-2del) c.*1435-2del (n.*1435-2del) c.979-2del | |
| 15 | g.48446824T>A | CA392341464 | FBN1 | c.5672-2A>T (n.5672-2A>T) n.4346-2A>T c.671-2A>T (n.671-2A>T) c.*1435-2A>T (n.*1435-2A>T) c.979-2A>T | ClinVar gnomAD v4 |
| 15 | g.48446824T>C | CA16614415 | FBN1 | c.5672-2A>G (n.5672-2A>G) n.4346-2A>G c.671-2A>G (n.671-2A>G) c.*1435-2A>G (n.*1435-2A>G) c.979-2A>G | ClinVar dbSNP |
| 15 | g.48446824T>G | CA392341465 | FBN1 | c.5672-2A>C (n.5672-2A>C) n.4346-2A>C c.671-2A>C (n.671-2A>C) c.*1435-2A>C (n.*1435-2A>C) c.979-2A>C | |
| 15 | g.48446824T= | CA2175495521 | FBN1 | c.5672-2A= (n.5672-2A=) n.4346-2A= c.671-2A= (n.671-2A=) c.*1435-2A= (n.*1435-2A=) c.979-2A= | |
| 15 | g.48446824_48446825insGGTTTGGTCATCATTTGTTTTAAAACC | CA2628347785 | FBN1 | c.5672-3_5672-2insGGTTTTAAAACAAATGATGACCAAACC (n.5672-3_5672-2insGGTTTTAAAACAAATGATGACCAAACC) n.4346-3_4346-2insGGTTTTAAAACAAATGATGACCAAACC c.671-3_671-2insGGTTTTAAAACAAATGATGACCAAACC (n.671-3_671-2insGGTTTTAAAACAAATGATGACCAAACC) c.*1435-3_*1435-2insGGTTTTAAAACAAATGATGACCAAACC (n.*1435-3_*1435-2insGGTTTTAAAACAAATGATGACCAAACC) c.979-3_979-2insGGTTTTAAAACAAATGATGACCAAACC | gnomAD v4 |
| 15 | g.48446825A= | CA2175495534 | FBN1 | c.5672-3T= (n.5672-3T=) n.4346-3T= c.671-3T= (n.671-3T=) c.*1435-3T= (n.*1435-3T=) c.979-3T= | |
| 15 | g.48446825A>C | CA2581214152 | FBN1 | c.5672-3T>G (n.5672-3T>G) n.4346-3T>G c.671-3T>G (n.671-3T>G) c.*1435-3T>G (n.*1435-3T>G) c.979-3T>G | |
| 15 | g.48446825A>G | CA015937 | FBN1 | c.5672-3T>C (n.5672-3T>C) n.4346-3T>C c.671-3T>C (n.671-3T>C) c.*1435-3T>C (n.*1435-3T>C) c.979-3T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446825A>T | CA2581214151 | FBN1 | c.5672-3T>A (n.5672-3T>A) n.4346-3T>A c.671-3T>A (n.671-3T>A) c.*1435-3T>A (n.*1435-3T>A) c.979-3T>A | gnomAD v4 |
| 15 | g.48446825_48446826insAAACCAGT | CA617837425 | FBN1 | c.5672-4_5672-3insACTGGTTT (n.5672-4_5672-3insACTGGTTT) n.4346-4_4346-3insACTGGTTT c.671-4_671-3insACTGGTTT (n.671-4_671-3insACTGGTTT) c.*1435-4_*1435-3insACTGGTTT (n.*1435-4_*1435-3insACTGGTTT) c.979-4_979-3insACTGGTTT | gnomAD v2 gnomAD v4 |
| 15 | g.48446825_48446826insAAACCAGTGT | CA2628347786 | FBN1 | c.5672-4_5672-3insACACTGGTTT (n.5672-4_5672-3insACACTGGTTT) n.4346-4_4346-3insACACTGGTTT c.671-4_671-3insACACTGGTTT (n.671-4_671-3insACACTGGTTT) c.*1435-4_*1435-3insACACTGGTTT (n.*1435-4_*1435-3insACACTGGTTT) c.979-4_979-3insACACTGGTTT | gnomAD v4 |
| 15 | g.48446826G>C | CA2580089703 | FBN1 | c.5672-4C>G (n.5672-4C>G) n.4346-4C>G c.671-4C>G (n.671-4C>G) c.*1435-4C>G (n.*1435-4C>G) c.979-4C>G | ClinVar |
| 15 | g.48446826G>T | CA2628347788 | FBN1 | c.5672-4C>A (n.5672-4C>A) n.4346-4C>A c.671-4C>A (n.671-4C>A) c.*1435-4C>A (n.*1435-4C>A) c.979-4C>A | gnomAD v4 |
| 15 | g.48446826_48446827del | CA2628347787 | FBN1 | c.5672-5_5672-4del (n.5672-5_5672-4del) n.4346-5_4346-4del c.671-5_671-4del (n.671-5_671-4del) c.*1435-5_*1435-4del (n.*1435-5_*1435-4del) c.979-5_979-4del | gnomAD v4 |
| 15 | g.48446827T>C | CA2740096638 | FBN1 | c.5672-5A>G (n.5672-5A>G) n.4346-5A>G c.671-5A>G (n.671-5A>G) c.*1435-5A>G (n.*1435-5A>G) c.979-5A>G | ClinVar |
| 15 | g.48446828A= | CA2175495540 | FBN1 | c.5672-6T= (n.5672-6T=) n.4346-6T= c.671-6T= (n.671-6T=) c.*1435-6T= (n.*1435-6T=) c.979-6T= | |
| 15 | g.48446828A>G | CA2628347789 | FBN1 | c.5672-6T>C (n.5672-6T>C) n.4346-6T>C c.671-6T>C (n.671-6T>C) c.*1435-6T>C (n.*1435-6T>C) c.979-6T>C | gnomAD v4 |
| 15 | g.48446828A>T | CA658683892 | FBN1 | c.5672-6T>A (n.5672-6T>A) n.4346-6T>A c.671-6T>A (n.671-6T>A) c.*1435-6T>A (n.*1435-6T>A) c.979-6T>A | ClinVar dbSNP |
| 15 | g.48446829G>T | CA2628347790 | FBN1 | c.5672-7C>A (n.5672-7C>A) n.4346-7C>A c.671-7C>A (n.671-7C>A) c.*1435-7C>A (n.*1435-7C>A) c.979-7C>A | gnomAD v4 |
| 15 | g.48446830G>C | CA2573150907 | FBN1 | c.5672-8C>G (n.5672-8C>G) n.4346-8C>G c.671-8C>G (n.671-8C>G) c.*1435-8C>G (n.*1435-8C>G) c.979-8C>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446830G>T | CA2575716854 | FBN1 | c.5672-8C>A (n.5672-8C>A) n.4346-8C>A c.671-8C>A (n.671-8C>A) c.*1435-8C>A (n.*1435-8C>A) c.979-8C>A | gnomAD v4 |
| 15 | g.48446831A>G | CA2628347791 | FBN1 | c.5672-9T>C (n.5672-9T>C) n.4346-9T>C c.671-9T>C (n.671-9T>C) c.*1435-9T>C (n.*1435-9T>C) c.979-9T>C | gnomAD v4 |
| 15 | g.48446832A>G | CA2628347792 | FBN1 | c.5672-10T>C (n.5672-10T>C) n.4346-10T>C c.671-10T>C (n.671-10T>C) c.*1435-10T>C (n.*1435-10T>C) c.979-10T>C | gnomAD v4 |
| 15 | g.48446832A>T | CA2575716857 | FBN1 | c.5672-10T>A (n.5672-10T>A) n.4346-10T>A c.671-10T>A (n.671-10T>A) c.*1435-10T>A (n.*1435-10T>A) c.979-10T>A | |
| 15 | g.48446833G>T | CA2628347793 | FBN1 | c.5672-11C>A (n.5672-11C>A) n.4346-11C>A c.671-11C>A (n.671-11C>A) c.*1435-11C>A (n.*1435-11C>A) c.979-11C>A | gnomAD v4 |
| 15 | g.48446836del | CA2628347794 | FBN1 | c.5672-12del (n.5672-12del) n.4346-12del c.671-12del (n.671-12del) c.*1435-12del (n.*1435-12del) c.979-12del | gnomAD v4 |
| 15 | g.48446835A= | CA2175495548 | FBN1 | c.5672-13T= (n.5672-13T=) n.4346-13T= c.671-13T= (n.671-13T=) c.*1435-13T= (n.*1435-13T=) c.979-13T= | |
| 15 | g.48446835A>C | CA269533835 | FBN1 | c.5672-13T>G (n.5672-13T>G) n.4346-13T>G c.671-13T>G (n.671-13T>G) c.*1435-13T>G (n.*1435-13T>G) c.979-13T>G | dbSNP |
| 15 | g.48446836A= | CA2175495551 | FBN1 | c.5672-14T= (n.5672-14T=) n.4346-14T= c.671-14T= (n.671-14T=) c.*1435-14T= (n.*1435-14T=) c.979-14T= | |
| 15 | g.48446836A>G | CA713395549 | FBN1 | c.5672-14T>C (n.5672-14T>C) n.4346-14T>C c.671-14T>C (n.671-14T>C) c.*1435-14T>C (n.*1435-14T>C) c.979-14T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446837G>A | CA2175495563 | FBN1 | c.5672-15C>T (n.5672-15C>T) n.4346-15C>T c.671-15C>T (n.671-15C>T) c.*1435-15C>T (n.*1435-15C>T) c.979-15C>T | dbSNP |
| 15 | g.48446837G>C | CA055379 | FBN1 | c.5672-15C>G (n.5672-15C>G) n.4346-15C>G c.671-15C>G (n.671-15C>G) c.*1435-15C>G (n.*1435-15C>G) c.979-15C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446837G= | CA2175495557 | FBN1 | c.5672-15C= (n.5672-15C=) n.4346-15C= c.671-15C= (n.671-15C=) c.*1435-15C= (n.*1435-15C=) c.979-15C= | |
| 15 | g.48446837G>T | CA2575716858 | FBN1 | c.5672-15C>A (n.5672-15C>A) n.4346-15C>A c.671-15C>A (n.671-15C>A) c.*1435-15C>A (n.*1435-15C>A) c.979-15C>A | gnomAD v4 |
| 15 | g.48446838G>A | CA2628347795 | FBN1 | c.5672-16C>T (n.5672-16C>T) n.4346-16C>T c.671-16C>T (n.671-16C>T) c.*1435-16C>T (n.*1435-16C>T) c.979-16C>T | gnomAD v4 |
| 15 | g.48446838G>C | CA2628347796 | FBN1 | c.5672-16C>G (n.5672-16C>G) n.4346-16C>G c.671-16C>G (n.671-16C>G) c.*1435-16C>G (n.*1435-16C>G) c.979-16C>G | gnomAD v4 |
| 15 | g.48446838G>T | CA2628347797 | FBN1 | c.5672-16C>A (n.5672-16C>A) n.4346-16C>A c.671-16C>A (n.671-16C>A) c.*1435-16C>A (n.*1435-16C>A) c.979-16C>A | gnomAD v4 |
| 15 | g.48446839C>A | CA269533850 | FBN1 | c.5672-17G>T (n.5672-17G>T) n.4346-17G>T c.671-17G>T (n.671-17G>T) c.*1435-17G>T (n.*1435-17G>T) c.979-17G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446839C= | CA2175495566 | FBN1 | c.5672-17G= (n.5672-17G=) n.4346-17G= c.671-17G= (n.671-17G=) c.*1435-17G= (n.*1435-17G=) c.979-17G= | |
| 15 | g.48446840del | CA2628347798 | FBN1 | c.5672-17del (n.5672-17del) n.4346-17del c.671-17del (n.671-17del) c.*1435-17del (n.*1435-17del) c.979-17del | gnomAD v4 |
| 15 | g.48446840C>A | CA2575716859 | FBN1 | c.5672-18G>T (n.5672-18G>T) n.4346-18G>T c.671-18G>T (n.671-18G>T) c.*1435-18G>T (n.*1435-18G>T) c.979-18G>T | |
| 15 | g.48446842T>A | CA2575716860 | FBN1 | c.5672-20A>T (n.5672-20A>T) n.4346-20A>T c.671-20A>T (n.671-20A>T) c.*1435-20A>T (n.*1435-20A>T) c.979-20A>T | gnomAD v4 |
| 15 | g.48446843A>G | CA2628347799 | FBN1 | c.5672-21T>C (n.5672-21T>C) n.4346-21T>C c.671-21T>C (n.671-21T>C) c.*1435-21T>C (n.*1435-21T>C) c.979-21T>C | gnomAD v4 |
| 15 | g.48446843_48446858delinsAAAGAAACATAATTAT | CA2175495570 | FBN1 | c.5672-36_5672-21delinsATAATTATGTTTCTTT (n.5672-36_5672-21delinsATAATTATGTTTCTTT) n.4346-36_4346-21delinsATAATTATGTTTCTTT c.671-36_671-21delinsATAATTATGTTTCTTT (n.671-36_671-21delinsATAATTATGTTTCTTT) c.*1435-36_*1435-21delinsATAATTATGTTTCTTT (n.*1435-36_*1435-21delinsATAATTATGTTTCTTT) c.979-36_979-21delinsATAATTATGTTTCTTT | |
| 15 | g.48446847_48446861del | CA2175495577 | FBN1 | c.5672-36_5672-22del (n.5672-36_5672-22del) n.4346-36_4346-22del c.671-36_671-22del (n.671-36_671-22del) c.*1435-36_*1435-22del (n.*1435-36_*1435-22del) c.979-36_979-22del | dbSNP |
| 15 | g.48446845A= | CA2175495580 | FBN1 | c.5672-23T= (n.5672-23T=) n.4346-23T= c.671-23T= (n.671-23T=) c.*1435-23T= (n.*1435-23T=) c.979-23T= | |
| 15 | g.48446845A>G | CA055385 | FBN1 | c.5672-23T>C (n.5672-23T>C) n.4346-23T>C c.671-23T>C (n.671-23T>C) c.*1435-23T>C (n.*1435-23T>C) c.979-23T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446846G>A | CA2175495586 | FBN1 | c.5672-24C>T (n.5672-24C>T) n.4346-24C>T c.671-24C>T (n.671-24C>T) c.*1435-24C>T (n.*1435-24C>T) c.979-24C>T | dbSNP |
| 15 | g.48446846G= | CA2175495583 | FBN1 | c.5672-24C= (n.5672-24C=) n.4346-24C= c.671-24C= (n.671-24C=) c.*1435-24C= (n.*1435-24C=) c.979-24C= | |
| 15 | g.48446846G>T | CA2628347800 | FBN1 | c.5672-24C>A (n.5672-24C>A) n.4346-24C>A c.671-24C>A (n.671-24C>A) c.*1435-24C>A (n.*1435-24C>A) c.979-24C>A | gnomAD v4 |
| 15 | g.48446850C>A | CA2628347801 | FBN1 | c.5672-28G>T (n.5672-28G>T) n.4346-28G>T c.671-28G>T (n.671-28G>T) c.*1435-28G>T (n.*1435-28G>T) c.979-28G>T | gnomAD v4 |
| 15 | g.48446850C= | CA2175495591 | FBN1 | c.5672-28G= (n.5672-28G=) n.4346-28G= c.671-28G= (n.671-28G=) c.*1435-28G= (n.*1435-28G=) c.979-28G= | |
| 15 | g.48446850C>T | CA617837426 | FBN1 | c.5672-28G>A (n.5672-28G>A) n.4346-28G>A c.671-28G>A (n.671-28G>A) c.*1435-28G>A (n.*1435-28G>A) c.979-28G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446850_48446852delinsCAT | CA2175495593 | FBN1 | c.5672-30_5672-28delinsATG (n.5672-30_5672-28delinsATG) n.4346-30_4346-28delinsATG c.671-30_671-28delinsATG (n.671-30_671-28delinsATG) c.*1435-30_*1435-28delinsATG (n.*1435-30_*1435-28delinsATG) c.979-30_979-28delinsATG | |
| 15 | g.48446851A>G | CA2575716861 | FBN1 | c.5672-29T>C (n.5672-29T>C) n.4346-29T>C c.671-29T>C (n.671-29T>C) c.*1435-29T>C (n.*1435-29T>C) c.979-29T>C | |
| 15 | g.48446852_48446853del | CA713395551 | FBN1 | c.5672-30_5672-29del (n.5672-30_5672-29del) n.4346-30_4346-29del c.671-30_671-29del (n.671-30_671-29del) c.*1435-30_*1435-29del (n.*1435-30_*1435-29del) c.979-30_979-29del | dbSNP |
| 15 | g.48446855_48446860del | CA2628347802 | FBN1 | c.5672-34_5672-29del (n.5672-34_5672-29del) n.4346-34_4346-29del c.671-34_671-29del (n.671-34_671-29del) c.*1435-34_*1435-29del (n.*1435-34_*1435-29del) c.979-34_979-29del | gnomAD v4 |
| 15 | g.48446852T>C | CA055389 | FBN1 | c.5672-30A>G (n.5672-30A>G) n.4346-30A>G c.671-30A>G (n.671-30A>G) c.*1435-30A>G (n.*1435-30A>G) c.979-30A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446852T= | CA2175495596 | FBN1 | c.5672-30A= (n.5672-30A=) n.4346-30A= c.671-30A= (n.671-30A=) c.*1435-30A= (n.*1435-30A=) c.979-30A= | |
| 15 | g.48446855T>C | CA055396 | FBN1 | c.5672-33A>G (n.5672-33A>G) n.4346-33A>G c.671-33A>G (n.671-33A>G) c.*1435-33A>G (n.*1435-33A>G) c.979-33A>G | dbSNP ExAC gnomAD v2 |
| 15 | g.48446855T= | CA2175495602 | FBN1 | c.5672-33A= (n.5672-33A=) n.4346-33A= c.671-33A= (n.671-33A=) c.*1435-33A= (n.*1435-33A=) c.979-33A= | |
| 15 | g.48446856T>A | CA2575716863 | FBN1 | c.5672-34A>T (n.5672-34A>T) n.4346-34A>T c.671-34A>T (n.671-34A>T) c.*1435-34A>T (n.*1435-34A>T) c.979-34A>T | |
| 15 | g.48446857A= | CA2175495608 | FBN1 | c.5672-35T= (n.5672-35T=) n.4346-35T= c.671-35T= (n.671-35T=) c.*1435-35T= (n.*1435-35T=) c.979-35T= | |
| 15 | g.48446857A>C | CA713395559 | FBN1 | c.5672-35T>G (n.5672-35T>G) n.4346-35T>G c.671-35T>G (n.671-35T>G) c.*1435-35T>G (n.*1435-35T>G) c.979-35T>G | dbSNP gnomAD v4 |
| 15 | g.48446857A>G | CA055400 | FBN1 | c.5672-35T>C (n.5672-35T>C) n.4346-35T>C c.671-35T>C (n.671-35T>C) c.*1435-35T>C (n.*1435-35T>C) c.979-35T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446857A>T | CA2175495615 | FBN1 | c.5672-35T>A (n.5672-35T>A) n.4346-35T>A c.671-35T>A (n.671-35T>A) c.*1435-35T>A (n.*1435-35T>A) c.979-35T>A | dbSNP gnomAD v4 |
| 15 | g.48446858T>C | CA617837427 | FBN1 | c.5672-36A>G (n.5672-36A>G) n.4346-36A>G c.671-36A>G (n.671-36A>G) c.*1435-36A>G (n.*1435-36A>G) c.979-36A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446858T>G | CA269533867 | FBN1 | c.5672-36A>C (n.5672-36A>C) n.4346-36A>C c.671-36A>C (n.671-36A>C) c.*1435-36A>C (n.*1435-36A>C) c.979-36A>C | dbSNP gnomAD v4 |
| 15 | g.48446858T= | CA2175495619 | FBN1 | c.5672-36A= (n.5672-36A=) n.4346-36A= c.671-36A= (n.671-36A=) c.*1435-36A= (n.*1435-36A=) c.979-36A= | |
| 15 | g.48446861G>A | CA2575716867 | FBN1 | c.5672-39C>T (n.5672-39C>T) n.4346-39C>T c.671-39C>T (n.671-39C>T) c.*1435-39C>T (n.*1435-39C>T) c.979-39C>T | |
| 15 | g.48446861G>C | CA2575716868 | FBN1 | c.5672-39C>G (n.5672-39C>G) n.4346-39C>G c.671-39C>G (n.671-39C>G) c.*1435-39C>G (n.*1435-39C>G) c.979-39C>G | |
| 15 | g.48446862T>A | CA2575716869 | FBN1 | c.5672-40A>T (n.5672-40A>T) n.4346-40A>T c.671-40A>T (n.671-40A>T) c.*1435-40A>T (n.*1435-40A>T) c.979-40A>T | gnomAD v4 |
| 15 | g.48446862T>C | CA2628347803 | FBN1 | c.5672-40A>G (n.5672-40A>G) n.4346-40A>G c.671-40A>G (n.671-40A>G) c.*1435-40A>G (n.*1435-40A>G) c.979-40A>G | gnomAD v4 |
| 15 | g.48446863A>G | CA2628347804 | FBN1 | c.5672-41T>C (n.5672-41T>C) n.4346-41T>C c.671-41T>C (n.671-41T>C) c.*1435-41T>C (n.*1435-41T>C) c.979-41T>C | gnomAD v4 |
| 15 | g.48446865A>C | CA2628347805 | FBN1 | c.5672-43T>G (n.5672-43T>G) n.4346-43T>G c.671-43T>G (n.671-43T>G) c.*1435-43T>G (n.*1435-43T>G) c.979-43T>G | gnomAD v4 |
| 15 | g.48446865A>G | CA2628347806 | FBN1 | c.5672-43T>C (n.5672-43T>C) n.4346-43T>C c.671-43T>C (n.671-43T>C) c.*1435-43T>C (n.*1435-43T>C) c.979-43T>C | gnomAD v4 |
| 15 | g.48446869del | CA2575716870 | FBN1 | c.5672-43del (n.5672-43del) n.4346-43del c.671-43del (n.671-43del) c.*1435-43del (n.*1435-43del) c.979-43del | |
| 15 | g.48446866A= | CA2175495621 | FBN1 | c.5672-44T= (n.5672-44T=) n.4346-44T= c.671-44T= (n.671-44T=) c.*1435-44T= (n.*1435-44T=) c.979-44T= | |
| 15 | g.48446866A>G | CA055409 | FBN1 | c.5672-44T>C (n.5672-44T>C) n.4346-44T>C c.671-44T>C (n.671-44T>C) c.*1435-44T>C (n.*1435-44T>C) c.979-44T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48446867A= | CA2175495622 | FBN1 | c.5672-45T= (n.5672-45T=) n.4346-45T= c.671-45T= (n.671-45T=) c.*1435-45T= (n.*1435-45T=) c.979-45T= | |
| 15 | g.48446867A>G | CA617837428 | FBN1 | c.5672-45T>C (n.5672-45T>C) n.4346-45T>C c.671-45T>C (n.671-45T>C) c.*1435-45T>C (n.*1435-45T>C) c.979-45T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48446868A>C | CA2628347807 | FBN1 | c.5672-46T>G (n.5672-46T>G) n.4346-46T>G c.671-46T>G (n.671-46T>G) c.*1435-46T>G (n.*1435-46T>G) c.979-46T>G | gnomAD v4 |