Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |