| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48537709A>C | CA392445981 | FBN1 | c.638T>G (p.Val213Gly) c.636+2T>G (n.636+2T>G) | |
| 15 | g.48537709A>G | CA392445982 | FBN1 | c.638T>C (p.Val213Ala) c.636+2T>C (n.636+2T>C) | |
| 15 | g.48537709A>T | CA392445983 | FBN1 | c.638T>A (p.Val213Asp) c.636+2T>A (n.636+2T>A) | |
| 15 | g.48537710C>A | CA392445984 | FBN1 | c.637G>T (p.Val213Phe) c.636+1G>T (n.636+1G>T) | |
| 15 | g.48537710C>G | CA392445985 | FBN1 | c.637G>C (p.Val213Leu) c.636+1G>C (n.636+1G>C) | |
| 15 | g.48537710C>T | CA392445986 | FBN1 | c.637G>A (p.Val213Ile) c.636+1G>A (n.636+1G>A) | |
| 15 | g.48537710_48537712delinsCTG | CA2175539400 | FBN1 | c.635_637delinsCAG (p.Thr212=) c.635_636+1delinsCAG | |
| 15 | g.48537711T>A | CA490090120 | FBN1 | c.636A>T (p.Thr212=) | |
| 15 | g.48537711T>C | CA490090122 | FBN1 | c.636A>G (p.Thr212=) | |
| 15 | g.48537711T>G | CA490090123 | FBN1 | c.636A>C (p.Thr212=) | ClinVar gnomAD v4 |
| 15 | g.48537713_48537714del | CA913191040 | FBN1 | c.635_636del (p.Thr212SerfsTer10) c.635_636del (p.Thr212AsnfsTer?) | ClinVar dbSNP |
| 15 | g.48537712G>A | CA392445987 | FBN1 | c.635C>T (p.Thr212Ile) | gnomAD v4 |
| 15 | g.48537712G>C | CA392445988 | FBN1 | c.635C>G (p.Thr212Arg) | |
| 15 | g.48537712G>T | CA392445989 | FBN1 | c.635C>A (p.Thr212Lys) | |
| 15 | g.48537713T>A | CA392445990 | FBN1 | c.634A>T (p.Thr212Ser) | |
| 15 | g.48537713T>C | CA392445991 | FBN1 | c.634A>G (p.Thr212Ala) | COSMIC |
| 15 | g.48537713T>G | CA392445992 | FBN1 | c.634A>C (p.Thr212Pro) | ClinVar dbSNP |
| 15 | g.48537713T= | CA2175539401 | FBN1 | c.634A= (p.Thr212=) | |
| 15 | g.48537714G>A | CA490090125 | FBN1 | c.633C>T (p.Ala211=) | |
| 15 | g.48537714G>C | CA490090126 | FBN1 | c.633C>G (p.Ala211=) | |
| 15 | g.48537714G>T | CA490090127 | FBN1 | c.633C>A (p.Ala211=) | COSMIC |
| 15 | g.48537715G>A | CA392445993 | FBN1 | c.632C>T (p.Ala211Val) | |
| 15 | g.48537715G>C | CA392445995 | FBN1 | c.632C>G (p.Ala211Gly) | |
| 15 | g.48537715G= | CA2175539402 | FBN1 | c.632C= (p.Ala211=) | |
| 15 | g.48537715G>T | CA392445994 | FBN1 | c.632C>A (p.Ala211Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48537716C>A | CA392445996 | FBN1 | c.631G>T (p.Ala211Ser) | |
| 15 | g.48537716C>G | CA392445997 | FBN1 | c.631G>C (p.Ala211Pro) | |
| 15 | g.48537716C>T | CA392445998 | FBN1 | c.631G>A (p.Ala211Thr) | |
| 15 | g.48537717A>C | CA392445999 | FBN1 | c.630T>G (p.Cys210Trp) | |
| 15 | g.48537717A>G | CA490090131 | FBN1 | c.630T>C (p.Cys210=) | |
| 15 | g.48537717A>T | CA392446000 | FBN1 | c.630T>A (p.Cys210Ter) | |
| 15 | g.48537720_48537741del | CA2740096694 | FBN1 | c.609_630del (p.Cys204ProfsTer?) c.609_630del (p.Cys204ProfsTer5) | ClinVar |
| 15 | g.48537718C>A | CA392446001 | FBN1 | c.629G>T (p.Cys210Phe) | |
| 15 | g.48537718C= | CA2175539403 | FBN1 | c.629G= (p.Cys210=) | |
| 15 | g.48537718C>G | CA392446002 | FBN1 | c.629G>C (p.Cys210Ser) | |
| 15 | g.48537718C>T | CA392446003 | FBN1 | c.629G>A (p.Cys210Tyr) | ClinVar dbSNP |
| 15 | g.48537719A>C | CA392446004 | FBN1 | c.628T>G (p.Cys210Gly) | |
| 15 | g.48537719A>G | CA392446005 | FBN1 | c.628T>C (p.Cys210Arg) | |
| 15 | g.48537719A>T | CA392446006 | FBN1 | c.628T>A (p.Cys210Ser) | |
| 15 | g.48537720G>A | CA490090136 | FBN1 | c.627C>T (p.Cys209=) | dbSNP gnomAD v2 |
| 15 | g.48537720G>C | CA392446008 | FBN1 | c.627C>G (p.Cys209Trp) | |
| 15 | g.48537720G= | CA2175539404 | FBN1 | c.627C= (p.Cys209=) | |
| 15 | g.48537720G>T | CA392446007 | FBN1 | c.627C>A (p.Cys209Ter) | |
| 15 | g.48537721C>A | CA392446009 | FBN1 | c.626G>T (p.Cys209Phe) | ClinVar dbSNP |
| 15 | g.48537721C= | CA2175539405 | FBN1 | c.626G= (p.Cys209=) | |
| 15 | g.48537721C>G | CA392446010 | FBN1 | c.626G>C (p.Cys209Ser) | ClinVar dbSNP |
| 15 | g.48537721C>T | CA392446011 | FBN1 | c.626G>A (p.Cys209Tyr) | ClinVar dbSNP |
| 15 | g.48537722A>C | CA392446012 | FBN1 | c.625T>G (p.Cys209Gly) | |
| 15 | g.48537722A>G | CA392446013 | FBN1 | c.625T>C (p.Cys209Arg) | |
| 15 | g.48537722A>T | CA392446014 | FBN1 | c.625T>A (p.Cys209Ser) | |
| 15 | g.48537723G>A | CA490090137 | FBN1 | c.624C>T (p.Leu208=) | |
| 15 | g.48537723G>C | CA490090139 | FBN1 | c.624C>G (p.Leu208=) | |
| 15 | g.48537723G>T | CA490090138 | FBN1 | c.624C>A (p.Leu208=) | |
| 15 | g.48537724A= | CA2175539406 | FBN1 | c.623T= (p.Leu208=) | |
| 15 | g.48537724A>C | CA392446015 | FBN1 | c.623T>G (p.Leu208Arg) | |
| 15 | g.48537724A>G | CA392446016 | FBN1 | c.623T>C (p.Leu208Pro) | |
| 15 | g.48537724A>T | CA392446017 | FBN1 | c.623T>A (p.Leu208His) | ClinVar dbSNP |
| 15 | g.48537725G>A | CA392446018 | FBN1 | c.622C>T (p.Leu208Phe) | |
| 15 | g.48537725G>C | CA392446019 | FBN1 | c.622C>G (p.Leu208Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48537725G= | CA2175539435 | FBN1 | c.622C= (p.Leu208=) | |
| 15 | g.48537725G>T | CA392446020 | FBN1 | c.622C>A (p.Leu208Ile) | |
| 15 | g.48537726del | CA2499223016 | FBN1 | c.621del (p.Leu208SerfsTer?) c.621del (p.Leu208SerfsTer8) | ClinVar dbSNP |
| 15 | g.48537726C>A | CA490090140 | FBN1 | c.621G>T (p.Thr207=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48537726C= | CA2175539443 | FBN1 | c.621G= (p.Thr207=) | |
| 15 | g.48537726C>G | CA056476 | FBN1 | c.621G>C (p.Thr207=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537726C>T | CA056473 | FBN1 | c.621G>A (p.Thr207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537726_48537731del | CA2573332588 | FBN1 | c.616_621del (p.Lys206_Thr207del) | |
| 15 | g.48537727G>A | CA056454 | FBN1 | c.620C>T (p.Thr207Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537727G>C | CA392446022 | FBN1 | c.620C>G (p.Thr207Arg) | |
| 15 | g.48537727G= | CA2175539450 | FBN1 | c.620C= (p.Thr207=) | |
| 15 | g.48537727G>T | CA392446021 | FBN1 | c.620C>A (p.Thr207Lys) | |
| 15 | g.48537728T>A | CA392446023 | FBN1 | c.619A>T (p.Thr207Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537728T>C | CA392446024 | FBN1 | c.619A>G (p.Thr207Ala) | dbSNP |
| 15 | g.48537728T>G | CA392446025 | FBN1 | c.619A>C (p.Thr207Pro) | |
| 15 | g.48537728T= | CA2175539462 | FBN1 | c.619A= (p.Thr207=) | |
| 15 | g.48537732dup | CA658824886 | FBN1 | c.619dup (p.Thr207AsnfsTer16) c.619dup (p.Thr207AsnfsTer?) | ClinVar dbSNP |
| 15 | g.48537732del | CA645594571 | FBN1 | c.619del (p.Thr207ArgfsTer?) c.619del (p.Thr207ArgfsTer9) | COSMIC |
| 15 | g.48537729T>A | CA392446026 | FBN1 | c.618A>T (p.Lys206Asn) | |
| 15 | g.48537729T>C | CA490090143 | FBN1 | c.618A>G (p.Lys206=) | |
| 15 | g.48537729T>G | CA392446027 | FBN1 | c.618A>C (p.Lys206Asn) | |
| 15 | g.48537730T>A | CA392446028 | FBN1 | c.617A>T (p.Lys206Ile) | |
| 15 | g.48537730T>C | CA392446029 | FBN1 | c.617A>G (p.Lys206Arg) | |
| 15 | g.48537730T>G | CA392446030 | FBN1 | c.617A>C (p.Lys206Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48537730T= | CA2175539466 | FBN1 | c.617A= (p.Lys206=) | |
| 15 | g.48537731T>A | CA392446031 | FBN1 | c.616A>T (p.Lys206Ter) | ClinVar dbSNP |
| 15 | g.48537731T>C | CA392446032 | FBN1 | c.616A>G (p.Lys206Glu) | |
| 15 | g.48537731T>G | CA392446033 | FBN1 | c.616A>C (p.Lys206Gln) | |
| 15 | g.48537731T= | CA2175539471 | FBN1 | c.616A= (p.Lys206=) | |
| 15 | g.48537732T>A | CA490090144 | FBN1 | c.615A>T (p.Thr205=) | |
| 15 | g.48537732T>C | CA490090145 | FBN1 | c.615A>G (p.Thr205=) | |
| 15 | g.48537732T>G | CA490090146 | FBN1 | c.615A>C (p.Thr205=) | gnomAD v4 |
| 15 | g.48537733G>A | CA392446034 | FBN1 | c.614C>T (p.Thr205Ile) | |
| 15 | g.48537733G>C | CA392446035 | FBN1 | c.614C>G (p.Thr205Arg) | |
| 15 | g.48537733G>T | CA392446036 | FBN1 | c.614C>A (p.Thr205Lys) | |
| 15 | g.48537734T>A | CA392446038 | FBN1 | c.613A>T (p.Thr205Ser) | |
| 15 | g.48537734T>C | CA392446039 | FBN1 | c.613A>G (p.Thr205Ala) | |
| 15 | g.48537734T>G | CA392446037 | FBN1 | c.613A>C (p.Thr205Pro) | gnomAD v4 |
| 15 | g.48537735G>A | CA490090148 | FBN1 | c.612C>T (p.Cys204=) | |
| 15 | g.48537735G>C | CA392446040 | FBN1 | c.612C>G (p.Cys204Trp) | |
| 15 | g.48537735G>T | CA392446041 | FBN1 | c.612C>A (p.Cys204Ter) | |
| 15 | g.48537736C>A | CA392446042 | FBN1 | c.611G>T (p.Cys204Phe) | |
| 15 | g.48537736C>G | CA392446043 | FBN1 | c.611G>C (p.Cys204Ser) | |
| 15 | g.48537736C>T | CA392446044 | FBN1 | c.611G>A (p.Cys204Tyr) | |
| 15 | g.48537737A= | CA2175539476 | FBN1 | c.610T= (p.Cys204=) | |
| 15 | g.48537737A>C | CA392446045 | FBN1 | c.610T>G (p.Cys204Gly) | |
| 15 | g.48537737A>G | CA392446046 | FBN1 | c.610T>C (p.Cys204Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537737A>T | CA392446047 | FBN1 | c.610T>A (p.Cys204Ser) | |
| 15 | g.48537738G>A | CA056236 | FBN1 | c.609C>T (p.Val203=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537738G>C | CA490090149 | FBN1 | c.609C>G (p.Val203=) | |
| 15 | g.48537738G= | CA2175539479 | FBN1 | c.609C= (p.Val203=) | |
| 15 | g.48537738G>T | CA490090150 | FBN1 | c.609C>A (p.Val203=) | |
| 15 | g.48537739A>C | CA392446048 | FBN1 | c.608T>G (p.Val203Gly) | |
| 15 | g.48537739A>G | CA392446049 | FBN1 | c.608T>C (p.Val203Ala) | ClinVar dbSNP COSMIC |
| 15 | g.48537739A>T | CA392446050 | FBN1 | c.608T>A (p.Val203Asp) | |
| 15 | g.48537740C>A | CA392446052 | FBN1 | c.607G>T (p.Val203Phe) | |
| 15 | g.48537740C= | CA2175539484 | FBN1 | c.607G= (p.Val203=) | |
| 15 | g.48537740C>G | CA392446053 | FBN1 | c.607G>C (p.Val203Leu) | |
| 15 | g.48537740C>T | CA392446051 | FBN1 | c.607G>A (p.Val203Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48537741A>C | CA392446054 | FBN1 | c.606T>G (p.Ile202Met) | |
| 15 | g.48537741A>G | CA490090151 | FBN1 | c.606T>C (p.Ile202=) | |
| 15 | g.48537741A>T | CA490090152 | FBN1 | c.606T>A (p.Ile202=) | |
| 15 | g.48537742A= | CA2175539486 | FBN1 | c.605T= (p.Ile202=) | |
| 15 | g.48537742A>C | CA392446055 | FBN1 | c.605T>G (p.Ile202Ser) | |
| 15 | g.48537742A>G | CA392446056 | FBN1 | c.605T>C (p.Ile202Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537742A>T | CA392446057 | FBN1 | c.605T>A (p.Ile202Asn) | |
| 15 | g.48537743T>A | CA392446060 | FBN1 | c.604A>T (p.Ile202Phe) | |
| 15 | g.48537743T>C | CA392446059 | FBN1 | c.604A>G (p.Ile202Val) | |
| 15 | g.48537743T>G | CA392446058 | FBN1 | c.604A>C (p.Ile202Leu) | |
| 15 | g.48537744C>A | CA490090153 | FBN1 | c.603G>T (p.Gly201=) | gnomAD v4 |
| 15 | g.48537744C>G | CA490090154 | FBN1 | c.603G>C (p.Gly201=) | |
| 15 | g.48537744C>T | CA490090155 | FBN1 | c.603G>A (p.Gly201=) | ClinVar |
| 15 | g.48537746del | CA2573150828 | FBN1 | c.603del (p.Ile202LeufsTer?) c.603del (p.Ile202LeufsTer14) | ClinVar dbSNP |
| 15 | g.48537745C>A | CA392446061 | FBN1 | c.602G>T (p.Gly201Val) | |
| 15 | g.48537745C>G | CA392446062 | FBN1 | c.602G>C (p.Gly201Ala) | |
| 15 | g.48537745C>T | CA392446063 | FBN1 | c.602G>A (p.Gly201Glu) | |
| 15 | g.48537746C>A | CA392446064 | FBN1 | c.601G>T (p.Gly201Trp) | |
| 15 | g.48537746C= | CA2175539489 | FBN1 | c.601G= (p.Gly201=) | |
| 15 | g.48537746C>G | CA392446065 | FBN1 | c.601G>C (p.Gly201Arg) | gnomAD v4 |
| 15 | g.48537746C>T | CA055980 | FBN1 | c.601G>A (p.Gly201Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48537747G>A | CA270013573 | FBN1 | c.600C>T (p.Ser200=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48537747G>C | CA392446067 | FBN1 | c.600C>G (p.Ser200Arg) | |
| 15 | g.48537747G= | CA2175539494 | FBN1 | c.600C= (p.Ser200=) | |
| 15 | g.48537747G>T | CA392446066 | FBN1 | c.600C>A (p.Ser200Arg) | |
| 15 | g.48537748C>A | CA392446068 | FBN1 | c.599G>T (p.Ser200Ile) | |
| 15 | g.48537748C>G | CA392446069 | FBN1 | c.599G>C (p.Ser200Thr) | |
| 15 | g.48537748C>T | CA392446070 | FBN1 | c.599G>A (p.Ser200Asn) | |
| 15 | g.48537749T>A | CA392446071 | FBN1 | c.598A>T (p.Ser200Cys) | |
| 15 | g.48537749T>C | CA270013578 | FBN1 | c.598A>G (p.Ser200Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537749T>G | CA392446072 | FBN1 | c.598A>C (p.Ser200Arg) | |
| 15 | g.48537749T= | CA2175539497 | FBN1 | c.598A= (p.Ser200=) | |
| 15 | g.48537750G>A | CA490090156 | FBN1 | c.597C>T (p.Leu199=) | ClinVar |
| 15 | g.48537750G>C | CA490090157 | FBN1 | c.597C>G (p.Leu199=) | |
| 15 | g.48537750G>T | CA490090158 | FBN1 | c.597C>A (p.Leu199=) | |
| 15 | g.48537751A>C | CA392446073 | FBN1 | c.596T>G (p.Leu199Arg) | |
| 15 | g.48537751A>G | CA392446074 | FBN1 | c.596T>C (p.Leu199Pro) | |
| 15 | g.48537751A>T | CA392446075 | FBN1 | c.596T>A (p.Leu199His) | |
| 15 | g.48537752del | CA2580089614 | FBN1 | c.595del (p.Leu199SerfsTer?) c.595del (p.Leu199SerfsTer17) | ClinVar |
| 15 | g.48537752G>A | CA392446076 | FBN1 | c.595C>T (p.Leu199Phe) | ClinVar dbSNP |
| 15 | g.48537752G>C | CA392446077 | FBN1 | c.595C>G (p.Leu199Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48537752G= | CA2175539504 | FBN1 | c.595C= (p.Leu199=) | |
| 15 | g.48537752G>T | CA392446078 | FBN1 | c.595C>A (p.Leu199Ile) | |
| 15 | g.48537753T>A | CA055893 | FBN1 | c.594A>T (p.Gln198His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537753T>C | CA490090159 | FBN1 | c.594A>G (p.Gln198=) | |
| 15 | g.48537753T>G | CA392446079 | FBN1 | c.594A>C (p.Gln198His) | |
| 15 | g.48537753T= | CA2175539507 | FBN1 | c.594A= (p.Gln198=) | |
| 15 | g.48537754T>A | CA392446082 | FBN1 | c.593A>T (p.Gln198Leu) | |
| 15 | g.48537754T>C | CA392446081 | FBN1 | c.593A>G (p.Gln198Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48537754T>G | CA392446080 | FBN1 | c.593A>C (p.Gln198Pro) | |
| 15 | g.48537754T= | CA2175539510 | FBN1 | c.593A= (p.Gln198=) | |
| 15 | g.48537755G>A | CA16614457 | FBN1 | c.592C>T (p.Gln198Ter) | ClinVar dbSNP |
| 15 | g.48537755G>C | CA392446083 | FBN1 | c.592C>G (p.Gln198Glu) | |
| 15 | g.48537755G= | CA2175539515 | FBN1 | c.592C= (p.Gln198=) | |
| 15 | g.48537755G>T | CA392446084 | FBN1 | c.592C>A (p.Gln198Lys) | gnomAD v4 |
| 15 | g.48537756T>A | CA490090161 | FBN1 | c.591A>T (p.Gly197=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48537756T>C | CA490090162 | FBN1 | c.591A>G (p.Gly197=) | |
| 15 | g.48537756T>G | CA490090160 | FBN1 | c.591A>C (p.Gly197=) | |
| 15 | g.48537756T= | CA2175539521 | FBN1 | c.591A= (p.Gly197=) | |
| 15 | g.48537756_48537757delinsTC | CA2175539523 | FBN1 | c.590_591delinsGA (p.Gly197=) | |
| 15 | g.48537757C>A | CA392446085 | FBN1 | c.590G>T (p.Gly197Val) | |
| 15 | g.48537757C= | CA2175539533 | FBN1 | c.590G= (p.Gly197=) | |
| 15 | g.48537757C>G | CA392446086 | FBN1 | c.590G>C (p.Gly197Ala) | |
| 15 | g.48537757C>T | CA270013604 | FBN1 | c.590G>A (p.Gly197Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537759del | CA658824887 | FBN1 | c.590del (p.Gly197AspfsTer?) c.590del (p.Gly197AspfsTer19) | ClinVar dbSNP |
| 15 | g.48537758C>A | CA392446087 | FBN1 | c.589G>T (p.Gly197Ter) | |
| 15 | g.48537758C= | CA2175539537 | FBN1 | c.589G= (p.Gly197=) | |
| 15 | g.48537758C>G | CA10636154 | FBN1 | c.589G>C (p.Gly197Arg) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537758C>T | CA392446088 | FBN1 | c.589G>A (p.Gly197Arg) | |
| 15 | g.48537759C>A | CA392446089 | FBN1 | c.588G>T (p.Gln196His) | |
| 15 | g.48537759C>G | CA392446090 | FBN1 | c.588G>C (p.Gln196His) | |
| 15 | g.48537759C>T | CA490090163 | FBN1 | c.588G>A (p.Gln196=) | |
| 15 | g.48537760T>A | CA392446091 | FBN1 | c.587A>T (p.Gln196Leu) | |
| 15 | g.48537760T>C | CA392446092 | FBN1 | c.587A>G (p.Gln196Arg) | |
| 15 | g.48537760T>G | CA392446093 | FBN1 | c.587A>C (p.Gln196Pro) | |
| 15 | g.48537761G>A | CA392446096 | FBN1 | c.586C>T (p.Gln196Ter) | |
| 15 | g.48537761G>C | CA392446095 | FBN1 | c.586C>G (p.Gln196Glu) | |
| 15 | g.48537761G>T | CA392446094 | FBN1 | c.586C>A (p.Gln196Lys) | |
| 15 | g.48537762G>A | CA490090167 | FBN1 | c.585C>T (p.Cys195=) | COSMIC |
| 15 | g.48537762G>C | CA392446097 | FBN1 | c.585C>G (p.Cys195Trp) | |
| 15 | g.48537762G= | CA2175539551 | FBN1 | c.585C= (p.Cys195=) | |
| 15 | g.48537762G>T | CA270013611 | FBN1 | c.585C>A (p.Cys195Ter) | dbSNP |
| 15 | g.48537763C>A | CA392446098 | FBN1 | c.584G>T (p.Cys195Phe) | |
| 15 | g.48537763C>G | CA392446099 | FBN1 | c.584G>C (p.Cys195Ser) | |
| 15 | g.48537763C>T | CA392446100 | FBN1 | c.584G>A (p.Cys195Tyr) | |
| 15 | g.48537763_48537770delinsCACATCTG | CA2175539554 | FBN1 | c.577_584delinsCAGATGTG (p.Gln193=) | |
| 15 | g.48537764A>C | CA392446103 | FBN1 | c.583T>G (p.Cys195Gly) | |
| 15 | g.48537764A>G | CA392446102 | FBN1 | c.583T>C (p.Cys195Arg) | |
| 15 | g.48537764A>T | CA392446101 | FBN1 | c.583T>A (p.Cys195Ser) | |
| 15 | g.48537764_48537770delinsTT | CA1139663907 | FBN1 | c.577_583delinsAA (p.Gln193LysfsTer28) c.577_583delinsAA (p.Gln193LysfsTer?) | ClinVar dbSNP |
| 15 | g.48537765C>A | CA392446104 | FBN1 | c.582G>T (p.Met194Ile) | |
| 15 | g.48537765C>G | CA392446105 | FBN1 | c.582G>C (p.Met194Ile) | |
| 15 | g.48537765C>T | CA392446106 | FBN1 | c.582G>A (p.Met194Ile) | COSMIC |
| 15 | g.48537766A>C | CA392446107 | FBN1 | c.581T>G (p.Met194Arg) | |
| 15 | g.48537766A>G | CA392446108 | FBN1 | c.581T>C (p.Met194Thr) | ClinVar |
| 15 | g.48537766A>T | CA392446109 | FBN1 | c.581T>A (p.Met194Lys) | |
| 15 | g.48537767T>A | CA392446112 | FBN1 | c.580A>T (p.Met194Leu) | COSMIC |
| 15 | g.48537767T>C | CA392446110 | FBN1 | c.580A>G (p.Met194Val) | |
| 15 | g.48537767T>G | CA392446111 | FBN1 | c.580A>C (p.Met194Leu) | |
| 15 | g.48537768del | CA2695220429 | FBN1 | c.579del (p.Met194CysfsTer?) c.579del (p.Met194CysfsTer22) | |
| 15 | g.48537768C>A | CA392446113 | FBN1 | c.579G>T (p.Gln193His) | gnomAD v4 |
| 15 | g.48537768C>G | CA392446114 | FBN1 | c.579G>C (p.Gln193His) | gnomAD v4 |
| 15 | g.48537768C>T | CA490090177 | FBN1 | c.579G>A (p.Gln193=) | |
| 15 | g.48537769T>A | CA392446115 | FBN1 | c.578A>T (p.Gln193Leu) | |
| 15 | g.48537769T>C | CA392446116 | FBN1 | c.578A>G (p.Gln193Arg) | |
| 15 | g.48537769T>G | CA392446117 | FBN1 | c.578A>C (p.Gln193Pro) | |
| 15 | g.48537769_48537770delinsTG | CA2175539559 | FBN1 | c.577_578delinsCA (p.Gln193=) | |
| 15 | g.48537770G>A | CA392446118 | FBN1 | c.577C>T (p.Gln193Ter) | |
| 15 | g.48537770G>C | CA392446119 | FBN1 | c.577C>G (p.Gln193Glu) | |
| 15 | g.48537770G>T | CA392446120 | FBN1 | c.577C>A (p.Gln193Lys) | |
| 15 | g.48537771del | CA658824888 | FBN1 | c.577del (p.Gln193ArgfsTer?) c.577del (p.Gln193ArgfsTer23) | ClinVar dbSNP |
| 15 | g.48537771G>A | CA490090181 | FBN1 | c.576C>T (p.Asn192=) | dbSNP gnomAD v4 |
| 15 | g.48537771G>C | CA392446121 | FBN1 | c.576C>G (p.Asn192Lys) | gnomAD v4 |
| 15 | g.48537771G= | CA2175539565 | FBN1 | c.576C= (p.Asn192=) | |
| 15 | g.48537771G>T | CA392446122 | FBN1 | c.576C>A (p.Asn192Lys) | gnomAD v4 |
| 15 | g.48537772T>A | CA392446123 | FBN1 | c.575A>T (p.Asn192Ile) | |
| 15 | g.48537772T>C | CA055494 | FBN1 | c.575A>G (p.Asn192Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537772T>G | CA392446124 | FBN1 | c.575A>C (p.Asn192Thr) | |
| 15 | g.48537772T= | CA2175539568 | FBN1 | c.575A= (p.Asn192=) | |
| 15 | g.48537773T>A | CA392446125 | FBN1 | c.574A>T (p.Asn192Tyr) | |
| 15 | g.48537773T>C | CA392446127 | FBN1 | c.574A>G (p.Asn192Asp) | dbSNP |
| 15 | g.48537773T>G | CA392446126 | FBN1 | c.574A>C (p.Asn192His) | gnomAD v4 |
| 15 | g.48537773T= | CA2175539571 | FBN1 | c.574A= (p.Asn192=) | |
| 15 | g.48537774G>A | CA055479 | FBN1 | c.573C>T (p.Ser191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537774G>C | CA392446129 | FBN1 | c.573C>G (p.Ser191Arg) | |
| 15 | g.48537774G= | CA2175539575 | FBN1 | c.573C= (p.Ser191=) | |
| 15 | g.48537774G>T | CA392446128 | FBN1 | c.573C>A (p.Ser191Arg) | |
| 15 | g.48537775C>A | CA055454 | FBN1 | c.572G>T (p.Ser191Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537775C= | CA2175539577 | FBN1 | c.572G= (p.Ser191=) | |
| 15 | g.48537775C>G | CA392446130 | FBN1 | c.572G>C (p.Ser191Thr) | |
| 15 | g.48537775C>T | CA392446131 | FBN1 | c.572G>A (p.Ser191Asn) | |
| 15 | g.48537775_48537776insCCAGGGA | CA2695220430 | FBN1 | c.571_572insTCCCTGG (p.Ser191IlefsTer?) | |
| 15 | g.48537776T>A | CA392446132 | FBN1 | c.571A>T (p.Ser191Cys) | |
| 15 | g.48537776T>C | CA392446133 | FBN1 | c.571A>G (p.Ser191Gly) | gnomAD v4 |
| 15 | g.48537776T>G | CA392446134 | FBN1 | c.571A>C (p.Ser191Arg) | |
| 15 | g.48537777G>A | CA490090190 | FBN1 | c.570C>T (p.Ile190=) | ClinVar |
| 15 | g.48537777G>C | CA392446135 | FBN1 | c.570C>G (p.Ile190Met) | |
| 15 | g.48537777G>T | CA490090191 | FBN1 | c.570C>A (p.Ile190=) | |
| 15 | g.48537778A>C | CA392446136 | FBN1 | c.569T>G (p.Ile190Ser) | |
| 15 | g.48537778A>G | CA392446137 | FBN1 | c.569T>C (p.Ile190Thr) | |
| 15 | g.48537778A>T | CA392446138 | FBN1 | c.569T>A (p.Ile190Asn) | |
| 15 | g.48537779T>A | CA270013630 | FBN1 | c.568A>T (p.Ile190Phe) | dbSNP |
| 15 | g.48537779T>C | CA055422 | FBN1 | c.568A>G (p.Ile190Val) | dbSNP ExAC gnomAD v2 |
| 15 | g.48537779T>G | CA392446139 | FBN1 | c.568A>C (p.Ile190Leu) | ClinVar dbSNP |
| 15 | g.48537779T= | CA2175539581 | FBN1 | c.568A= (p.Ile190=) | |
| 15 | g.48537780C>A | CA490090198 | FBN1 | c.567G>T (p.Val189=) | |
| 15 | g.48537780C>G | CA490090197 | FBN1 | c.567G>C (p.Val189=) | |
| 15 | g.48537780C>T | CA490090195 | FBN1 | c.567G>A (p.Val189=) | |
| 15 | g.48537781A>C | CA392446140 | FBN1 | c.566T>G (p.Val189Gly) | gnomAD v4 |
| 15 | g.48537781A>G | CA392446141 | FBN1 | c.566T>C (p.Val189Ala) | |
| 15 | g.48537781A>T | CA392446142 | FBN1 | c.566T>A (p.Val189Glu) | |
| 15 | g.48537782del | CA2499223017 | FBN1 | c.565del (p.Val189Ter) | ClinVar dbSNP |
| 15 | g.48537782C>A | CA392446143 | FBN1 | c.565G>T (p.Val189Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537782C= | CA2175539586 | FBN1 | c.565G= (p.Val189=) | |
| 15 | g.48537782C>G | CA392446144 | FBN1 | c.565G>C (p.Val189Leu) | |
| 15 | g.48537782C>T | CA392446145 | FBN1 | c.565G>A (p.Val189Met) | |
| 15 | g.48537783A>C | CA490090204 | FBN1 | c.564T>G (p.Thr188=) | |
| 15 | g.48537783A>G | CA490090202 | FBN1 | c.564T>C (p.Thr188=) | |
| 15 | g.48537783A>T | CA490090203 | FBN1 | c.564T>A (p.Thr188=) | |
| 15 | g.48537784G>A | CA392446146 | FBN1 | c.563C>T (p.Thr188Ile) | |
| 15 | g.48537784G>C | CA392446147 | FBN1 | c.563C>G (p.Thr188Ser) | |
| 15 | g.48537784G>T | CA392446148 | FBN1 | c.563C>A (p.Thr188Asn) | |
| 15 | g.48537785T>A | CA392446149 | FBN1 | c.562A>T (p.Thr188Ser) | |
| 15 | g.48537785T>C | CA392446150 | FBN1 | c.562A>G (p.Thr188Ala) | |
| 15 | g.48537785T>G | CA392446151 | FBN1 | c.562A>C (p.Thr188Pro) | |
| 15 | g.48537785_48537786delinsTA | CA2175539588 | FBN1 | c.561_562delinsTA (p.Phe187=) | |
| 15 | g.48537786A>C | CA392446152 | FBN1 | c.561T>G (p.Phe187Leu) | |
| 15 | g.48537786A>G | CA490090208 | FBN1 | c.561T>C (p.Phe187=) | |
| 15 | g.48537786A>T | CA392446153 | FBN1 | c.561T>A (p.Phe187Leu) | |
| 15 | g.48537789del | CA015919 | FBN1 | c.561del (p.Phe187LeufsTer3) | ClinVar dbSNP |
| 15 | g.48537787A= | CA2175539594 | FBN1 | c.560T= (p.Phe187=) | |
| 15 | g.48537787A>C | CA392446154 | FBN1 | c.560T>G (p.Phe187Cys) | |
| 15 | g.48537787A>G | CA392446155 | FBN1 | c.560T>C (p.Phe187Ser) | |
| 15 | g.48537787A>T | CA392446156 | FBN1 | c.560T>A (p.Phe187Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48537788A>C | CA392446157 | FBN1 | c.559T>G (p.Phe187Val) | |
| 15 | g.48537788A>G | CA392446158 | FBN1 | c.559T>C (p.Phe187Leu) | |
| 15 | g.48537788A>T | CA392446159 | FBN1 | c.559T>A (p.Phe187Ile) | |
| 15 | g.48537789A= | CA2175539598 | FBN1 | c.558T= (p.Cys186=) | |
| 15 | g.48537789A>C | CA392446161 | FBN1 | c.558T>G (p.Cys186Trp) | |
| 15 | g.48537789A>G | CA490090212 | FBN1 | c.558T>C (p.Cys186=) | |
| 15 | g.48537789A>T | CA392446160 | FBN1 | c.558T>A (p.Cys186Ter) | ClinVar dbSNP |
| 15 | g.48537790C>A | CA392446162 | FBN1 | c.557G>T (p.Cys186Phe) | |
| 15 | g.48537790C>G | CA392446163 | FBN1 | c.557G>C (p.Cys186Ser) | |
| 15 | g.48537790C>T | CA392446164 | FBN1 | c.557G>A (p.Cys186Tyr) | ClinVar |
| 15 | g.48537790_48537793delinsCATG | CA2175539603 | FBN1 | c.554_557delinsCATG (p.Pro185=) | |
| 15 | g.48537791A= | CA2175539615 | FBN1 | c.556T= (p.Cys186=) | |
| 15 | g.48537791A>C | CA392446165 | FBN1 | c.556T>G (p.Cys186Gly) | |
| 15 | g.48537791A>G | CA015898 | FBN1 | c.556T>C (p.Cys186Arg) | ClinVar dbSNP |
| 15 | g.48537791A>T | CA392446166 | FBN1 | c.556T>A (p.Cys186Ser) | |
| 15 | g.48537791_48537793del | CA658824889 | FBN1 | c.554_556del (p.Pro185_Cys186delinsArg) | ClinVar dbSNP |
| 15 | g.48537792T>A | CA490090213 | FBN1 | c.555A>T (p.Pro185=) | |
| 15 | g.48537792T>C | CA490090214 | FBN1 | c.555A>G (p.Pro185=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537792T>G | CA490090215 | FBN1 | c.555A>C (p.Pro185=) | |
| 15 | g.48537792T= | CA2175539620 | FBN1 | c.555A= (p.Pro185=) | |
| 15 | g.48537793G>A | CA392446167 | FBN1 | c.554C>T (p.Pro185Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537793G>C | CA392446169 | FBN1 | c.554C>G (p.Pro185Arg) | |
| 15 | g.48537793G= | CA2175539624 | FBN1 | c.554C= (p.Pro185=) | |
| 15 | g.48537793G>T | CA392446168 | FBN1 | c.554C>A (p.Pro185Gln) | |
| 15 | g.48537795del | CA2695220432 | FBN1 | c.554del (p.Pro185HisfsTer5) | |
| 15 | g.48537794G>A | CA392446170 | FBN1 | c.553C>T (p.Pro185Ser) | |
| 15 | g.48537794G>C | CA392446171 | FBN1 | c.553C>G (p.Pro185Ala) | |
| 15 | g.48537794G>T | CA392446172 | FBN1 | c.553C>A (p.Pro185Thr) | |
| 15 | g.48537795G>A | CA490090217 | FBN1 | c.552C>T (p.Gly184=) | |
| 15 | g.48537795G>C | CA490090218 | FBN1 | c.552C>G (p.Gly184=) | |
| 15 | g.48537795G= | CA2175539627 | FBN1 | c.552C= (p.Gly184=) | |
| 15 | g.48537795G>T | CA490090219 | FBN1 | c.552C>A (p.Gly184=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48537796C>A | CA392446173 | FBN1 | c.551G>T (p.Gly184Val) | |
| 15 | g.48537796C>G | CA392446174 | FBN1 | c.551G>C (p.Gly184Ala) | |
| 15 | g.48537796C>T | CA392446175 | FBN1 | c.551G>A (p.Gly184Asp) | |
| 15 | g.48537797del | CA2740096695 | FBN1 | c.551del (p.Gly184AlafsTer6) | ClinVar |
| 15 | g.48537797C>A | CA392446176 | FBN1 | c.550G>T (p.Gly184Cys) | |
| 15 | g.48537797C>G | CA392446177 | FBN1 | c.550G>C (p.Gly184Arg) | |
| 15 | g.48537797C>T | CA392446178 | FBN1 | c.550G>A (p.Gly184Ser) | |
| 15 | g.48537798T>A | CA490090224 | FBN1 | c.549A>T (p.Thr183=) | |
| 15 | g.48537798T>C | CA490090226 | FBN1 | c.549A>G (p.Thr183=) | |
| 15 | g.48537798T>G | CA490090225 | FBN1 | c.549A>C (p.Thr183=) | |
| 15 | g.48537799G>A | CA392446179 | FBN1 | c.548C>T (p.Thr183Ile) | gnomAD v4 |
| 15 | g.48537799G>C | CA392446180 | FBN1 | c.548C>G (p.Thr183Arg) | |
| 15 | g.48537799G>T | CA392446181 | FBN1 | c.548C>A (p.Thr183Lys) | COSMIC |
| 15 | g.48537800T>A | CA392446182 | FBN1 | c.547A>T (p.Thr183Ser) | |
| 15 | g.48537800T>C | CA392446184 | FBN1 | c.547A>G (p.Thr183Ala) | gnomAD v4 |
| 15 | g.48537800T>G | CA392446183 | FBN1 | c.547A>C (p.Thr183Pro) | |
| 15 | g.48537801C>A | CA392446185 | FBN1 | c.546G>T (p.Arg182Ser) | |
| 15 | g.48537801C>G | CA392446186 | FBN1 | c.546G>C (p.Arg182Ser) | gnomAD v4 |
| 15 | g.48537801C>T | CA490090230 | FBN1 | c.546G>A (p.Arg182=) | gnomAD v4 |
| 15 | g.48537802C>A | CA392446187 | FBN1 | c.545G>T (p.Arg182Met) | |
| 15 | g.48537802C= | CA2175539634 | FBN1 | c.545G= (p.Arg182=) | |
| 15 | g.48537802C>G | CA392446189 | FBN1 | c.545G>C (p.Arg182Thr) | |
| 15 | g.48537802C>T | CA392446188 | FBN1 | c.545G>A (p.Arg182Lys) | ClinVar dbSNP |
| 15 | g.48537803T>A | CA392446190 | FBN1 | c.544A>T (p.Arg182Trp) | |
| 15 | g.48537803T>C | CA392446191 | FBN1 | c.544A>G (p.Arg182Gly) | |
| 15 | g.48537803T>G | CA490090232 | FBN1 | c.544A>C (p.Arg182=) | |
| 15 | g.48537804G>A | CA490090233 | FBN1 | c.543C>T (p.Tyr181=) | ClinVar dbSNP |
| 15 | g.48537804G>C | CA392446192 | FBN1 | c.543C>G (p.Tyr181Ter) | ClinVar dbSNP |
| 15 | g.48537804G= | CA2175539640 | FBN1 | c.543C= (p.Tyr181=) | |
| 15 | g.48537804G>T | CA392446193 | FBN1 | c.543C>A (p.Tyr181Ter) | |
| 15 | g.48537805T>A | CA392446194 | FBN1 | c.542A>T (p.Tyr181Phe) | |
| 15 | g.48537805T>C | CA392446195 | FBN1 | c.542A>G (p.Tyr181Cys) | |
| 15 | g.48537805T>G | CA392446196 | FBN1 | c.542A>C (p.Tyr181Ser) | |
| 15 | g.48537806A>C | CA392446197 | FBN1 | c.541T>G (p.Tyr181Asp) | |
| 15 | g.48537806A>G | CA392446198 | FBN1 | c.541T>C (p.Tyr181His) | |
| 15 | g.48537806A>T | CA392446199 | FBN1 | c.541T>A (p.Tyr181Asn) | |
| 15 | g.48537807A>C | CA392446200 | FBN1 | c.540T>G (p.Asp180Glu) | |
| 15 | g.48537807A>G | CA490090238 | FBN1 | c.540T>C (p.Asp180=) | |
| 15 | g.48537807A>T | CA392446201 | FBN1 | c.540T>A (p.Asp180Glu) | |
| 15 | g.48537808T>A | CA392446204 | FBN1 | c.539A>T (p.Asp180Val) | |
| 15 | g.48537808T>C | CA392446202 | FBN1 | c.539A>G (p.Asp180Gly) | |
| 15 | g.48537808T>G | CA392446203 | FBN1 | c.539A>C (p.Asp180Ala) | |
| 15 | g.48537809C>A | CA10603465 | FBN1 | c.539-1G>T (n.539-1G>T) | ClinVar dbSNP |
| 15 | g.48537809C= | CA2175539646 | FBN1 | c.539-1G= (n.539-1G=) | |
| 15 | g.48537809C>G | CA392446205 | FBN1 | c.539-1G>C (n.539-1G>C) | |
| 15 | g.48537809C>T | CA015791 | FBN1 | c.539-1G>A (n.539-1G>A) | ClinVar dbSNP |