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.48446768A= | CA2175495127 | FBN1 | c.5726T= (p.Ile1909=) n.4400T= c.725T= (p.Ile242=) c.*1489T= (n.*1489T=) c.1033T= | |
15 | g.48446768A>C | CA392341263 | FBN1 | c.5726T>G (p.Ile1909Ser) n.4400T>G c.725T>G (p.Ile242Ser) c.*1489T>G (n.*1489T>G) c.1033T>G | |
15 | g.48446768A>G | CA016007 | FBN1 | c.5726T>C (p.Ile1909Thr) n.4400T>C c.725T>C (p.Ile242Thr) c.*1489T>C (n.*1489T>C) c.1033T>C | ClinVar dbSNP COSMIC |
15 | g.48446768A>T | CA392341264 | FBN1 | c.5726T>A (p.Ile1909Asn) n.4400T>A c.725T>A (p.Ile242Asn) c.*1489T>A (n.*1489T>A) c.1033T>A | |
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 | 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 |