UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48503783A>G | CA2573150767 | FBN1 | c.2113+4T>C (n.2113+4T>C) n.787+4T>C c.637-29133T>C (n.637-29133T>C) | ClinVar dbSNP |
| 15 | g.48503784T>G | CA2695220763 | FBN1 | c.2113+3A>C (n.2113+3A>C) n.787+3A>C c.637-29134A>C (n.637-29134A>C) | |
| 15 | g.48503785A= | CA2175526357 | FBN1 | c.2113+2T= (n.2113+2T=) n.787+2T= c.637-29135T= (n.637-29135T=) | |
| 15 | g.48503785A>C | CA16606975 | FBN1 | c.2113+2T>G (n.2113+2T>G) n.787+2T>G c.637-29135T>G (n.637-29135T>G) | ClinVar dbSNP |
| 15 | g.48503785A>G | CA012783 | FBN1 | c.2113+2T>C (n.2113+2T>C) n.787+2T>C c.637-29135T>C (n.637-29135T>C) | ClinVar dbSNP |
| 15 | g.48503785A>T | CA392337843 | FBN1 | c.2113+2T>A (n.2113+2T>A) n.787+2T>A c.637-29135T>A (n.637-29135T>A) | |
| 15 | g.48503786C>A | CA392337848 | FBN1 | c.2113+1G>T (n.2113+1G>T) n.787+1G>T c.637-29136G>T (n.637-29136G>T) | ClinVar dbSNP |
| 15 | g.48503786C= | CA2175526366 | FBN1 | c.2113+1G= (n.2113+1G=) n.787+1G= c.637-29136G= (n.637-29136G=) | |
| 15 | g.48503786C>G | CA392337850 | FBN1 | c.2113+1G>C (n.2113+1G>C) n.787+1G>C c.637-29136G>C (n.637-29136G>C) | ClinVar dbSNP |
| 15 | g.48503786C>T | CA392337853 | FBN1 | c.2113+1G>A (n.2113+1G>A) n.787+1G>A c.637-29136G>A (n.637-29136G>A) | ClinVar dbSNP |
| 15 | g.48503786_48503787del | CA2695220765 | FBN1 | c.2113_2113+1del n.787_787+1del c.637-29137_637-29136del (n.637-29137_637-29136del) | |
| 15 | g.48503787del | CA2730867947 | FBN1 | c.2113+1del n.787+1del c.637-29136del (n.637-29136del) | dbSNP |
| 15 | g.48503787C>A | CA392337858 | FBN1 | c.2113G>T (p.Ala705Ser) n.787G>T c.637-29137G>T (n.637-29137G>T) | |
| 15 | g.48503787C= | CA2175526377 | FBN1 | c.2113G= (p.Ala705=) n.787G= c.637-29137G= (n.637-29137G=) | |
| 15 | g.48503787C>G | CA392337860 | FBN1 | c.2113G>C (p.Ala705Pro) n.787G>C c.637-29137G>C (n.637-29137G>C) | |
| 15 | g.48503787C>T | CA392337863 | FBN1 | c.2113G>A (p.Ala705Thr) n.787G>A c.637-29137G>A (n.637-29137G>A) | ClinVar dbSNP |
| 15 | g.48503788T>A | CA490024153 | FBN1 | c.2112A>T (p.Ser704=) n.786A>T c.637-29138A>T (n.637-29138A>T) | ClinVar |
| 15 | g.48503788T>C | CA490024154 | FBN1 | c.2112A>G (p.Ser704=) n.786A>G c.637-29138A>G (n.637-29138A>G) | COSMIC |
| 15 | g.48503788T>G | CA490024155 | FBN1 | c.2112A>C (p.Ser704=) n.786A>C c.637-29138A>C (n.637-29138A>C) | ClinVar |
| 15 | g.48503789G>A | CA392337864 | FBN1 | c.2111C>T (p.Ser704Leu) n.785C>T c.637-29139C>T (n.637-29139C>T) | |
| 15 | g.48503789G>C | CA392337866 | FBN1 | c.2111C>G (p.Ser704Ter) n.785C>G c.637-29139C>G (n.637-29139C>G) | ClinVar dbSNP |
| 15 | g.48503789G= | CA2175526383 | FBN1 | c.2111C= (p.Ser704=) n.785C= c.637-29139C= (n.637-29139C=) | |
| 15 | g.48503789G>T | CA392337868 | FBN1 | c.2111C>A (p.Ser704Ter) n.785C>A c.637-29139C>A (n.637-29139C>A) | |
| 15 | g.48503790A>C | CA392337870 | FBN1 | c.2110T>G (p.Ser704Ala) n.784T>G c.637-29140T>G (n.637-29140T>G) | |
| 15 | g.48503790A>G | CA392337873 | FBN1 | c.2110T>C (p.Ser704Pro) n.784T>C c.637-29140T>C (n.637-29140T>C) | |
| 15 | g.48503790A>T | CA392337874 | FBN1 | c.2110T>A (p.Ser704Thr) n.784T>A c.637-29140T>A (n.637-29140T>A) | |
| 15 | g.48503791A>C | CA392337879 | FBN1 | c.2109T>G (p.Asn703Lys) n.783T>G c.637-29141T>G (n.637-29141T>G) | gnomAD v4 |
| 15 | g.48503791A>G | CA490024156 | FBN1 | c.2109T>C (p.Asn703=) n.783T>C c.637-29141T>C (n.637-29141T>C) | |
| 15 | g.48503791A>T | CA392337883 | FBN1 | c.2109T>A (p.Asn703Lys) n.783T>A c.637-29141T>A (n.637-29141T>A) | |
| 15 | g.48503792T>A | CA392337889 | FBN1 | c.2108A>T (p.Asn703Ile) n.782A>T c.637-29142A>T (n.637-29142A>T) | |
| 15 | g.48503792T>C | CA392337892 | FBN1 | c.2108A>G (p.Asn703Ser) n.782A>G c.637-29142A>G (n.637-29142A>G) | |
| 15 | g.48503792T>G | CA392337887 | FBN1 | c.2108A>C (p.Asn703Thr) n.782A>C c.637-29142A>C (n.637-29142A>C) | |
| 15 | g.48503793T>A | CA392337896 | FBN1 | c.2107A>T (p.Asn703Tyr) n.781A>T c.637-29143A>T (n.637-29143A>T) | |
| 15 | g.48503793T>C | CA392337898 | FBN1 | c.2107A>G (p.Asn703Asp) n.781A>G c.637-29143A>G (n.637-29143A>G) | |
| 15 | g.48503793T>G | CA392337902 | FBN1 | c.2107A>C (p.Asn703His) n.781A>C c.637-29143A>C (n.637-29143A>C) | gnomAD v4 |
| 15 | g.48503794C>A | CA046769 | FBN1 | c.2106G>T (p.Gln702His) n.780G>T c.637-29144G>T (n.637-29144G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503794C= | CA2175526387 | FBN1 | c.2106G= (p.Gln702=) n.780G= c.637-29144G= (n.637-29144G=) | |
| 15 | g.48503794C>G | CA392337906 | FBN1 | c.2106G>C (p.Gln702His) n.780G>C c.637-29144G>C (n.637-29144G>C) | |
| 15 | g.48503794C>T | CA490024157 | FBN1 | c.2106G>A (p.Gln702=) n.780G>A c.637-29144G>A (n.637-29144G>A) | |
| 15 | g.48503795T>A | CA392337909 | FBN1 | c.2105A>T (p.Gln702Leu) n.779A>T c.637-29145A>T (n.637-29145A>T) | |
| 15 | g.48503795T>C | CA392337908 | FBN1 | c.2105A>G (p.Gln702Arg) n.779A>G c.637-29145A>G (n.637-29145A>G) | |
| 15 | g.48503795T>G | CA392337907 | FBN1 | c.2105A>C (p.Gln702Pro) n.779A>C c.637-29145A>C (n.637-29145A>C) | |
| 15 | g.48503796G>A | CA392337911 | FBN1 | c.2104C>T (p.Gln702Ter) n.778C>T c.637-29146C>T (n.637-29146C>T) | |
| 15 | g.48503796G>C | CA392337913 | FBN1 | c.2104C>G (p.Gln702Glu) n.778C>G c.637-29146C>G (n.637-29146C>G) | |
| 15 | g.48503796G>T | CA392337915 | FBN1 | c.2104C>A (p.Gln702Lys) n.778C>A c.637-29146C>A (n.637-29146C>A) | |
| 15 | g.48503797T>A | CA490024158 | FBN1 | c.2103A>T (p.Ala701=) n.777A>T c.637-29147A>T (n.637-29147A>T) | |
| 15 | g.48503797T>C | CA490024159 | FBN1 | c.2103A>G (p.Ala701=) n.777A>G c.637-29147A>G (n.637-29147A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503797T>G | CA490024160 | FBN1 | c.2103A>C (p.Ala701=) n.777A>C c.637-29147A>C (n.637-29147A>C) | |
| 15 | g.48503798G>A | CA392337918 | FBN1 | c.2102C>T (p.Ala701Val) n.776C>T c.637-29148C>T (n.637-29148C>T) | dbSNP |
| 15 | g.48503798G>C | CA392337920 | FBN1 | c.2102C>G (p.Ala701Gly) n.776C>G c.637-29148C>G (n.637-29148C>G) | |
| 15 | g.48503798G= | CA2175526390 | FBN1 | c.2102C= (p.Ala701=) n.776C= c.637-29148C= (n.637-29148C=) | |
| 15 | g.48503798G>T | CA392337924 | FBN1 | c.2102C>A (p.Ala701Glu) n.776C>A c.637-29148C>A (n.637-29148C>A) | |
| 15 | g.48503799_48503802dup | CA2580574311 | FBN1 | c.2099_2102dup (p.Gln702CysfsTer23) n.773_776dup c.637-29151_637-29148dup (n.637-29151_637-29148dup) | |
| 15 | g.48503799C>A | CA392337927 | FBN1 | c.2101G>T (p.Ala701Ser) n.775G>T c.637-29149G>T (n.637-29149G>T) | |
| 15 | g.48503799C>G | CA392337933 | FBN1 | c.2101G>C (p.Ala701Pro) n.775G>C c.637-29149G>C (n.637-29149G>C) | |
| 15 | g.48503799C>T | CA392337930 | FBN1 | c.2101G>A (p.Ala701Thr) n.775G>A c.637-29149G>A (n.637-29149G>A) | |
| 15 | g.48503800A>C | CA490024161 | FBN1 | c.2100T>G (p.Pro700=) n.774T>G c.637-29150T>G (n.637-29150T>G) | |
| 15 | g.48503800A>G | CA490024162 | FBN1 | c.2100T>C (p.Pro700=) n.774T>C c.637-29150T>C (n.637-29150T>C) | ClinVar |
| 15 | g.48503800A>T | CA490024163 | FBN1 | c.2100T>A (p.Pro700=) n.774T>A c.637-29150T>A (n.637-29150T>A) | |
| 15 | g.48503800_48503801delinsAG | CA2175526392 | FBN1 | c.2099_2100delinsCT (p.Pro700=) n.773_774delinsCT c.637-29151_637-29150delinsCT (n.637-29151_637-29150delinsCT) | |
| 15 | g.48503801G>A | CA392337936 | FBN1 | c.2099C>T (p.Pro700Leu) n.773C>T c.637-29151C>T (n.637-29151C>T) | ClinVar dbSNP |
| 15 | g.48503801G>C | CA392337938 | FBN1 | c.2099C>G (p.Pro700Arg) n.773C>G c.637-29151C>G (n.637-29151C>G) | gnomAD v4 |
| 15 | g.48503801G>T | CA392337944 | FBN1 | c.2099C>A (p.Pro700His) n.773C>A c.637-29151C>A (n.637-29151C>A) | |
| 15 | g.48503802del | CA915946594 | FBN1 | c.2099del (p.Pro700LeufsTer18) n.773del c.637-29151del (n.637-29151del) | ClinVar dbSNP |
| 15 | g.48503802G>A | CA046757 | FBN1 | c.2098C>T (p.Pro700Ser) n.772C>T c.637-29152C>T (n.637-29152C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503802G>C | CA392337948 | FBN1 | c.2098C>G (p.Pro700Ala) n.772C>G c.637-29152C>G (n.637-29152C>G) | |
| 15 | g.48503802G= | CA2175526402 | FBN1 | c.2098C= (p.Pro700=) n.772C= c.637-29152C= (n.637-29152C=) | |
| 15 | g.48503802G>T | CA392337951 | FBN1 | c.2098C>A (p.Pro700Thr) n.772C>A c.637-29152C>A (n.637-29152C>A) | |
| 15 | g.48503802_48503804delinsGAC | CA2175526400 | FBN1 | c.2096_2098delinsGTC (p.Cys699=) n.770_772delinsGTC c.637-29154_637-29152delinsGTC (n.637-29154_637-29152delinsGTC) | |
| 15 | g.48503803A>C | CA392337954 | FBN1 | c.2097T>G (p.Cys699Trp) n.771T>G c.637-29153T>G (n.637-29153T>G) | |
| 15 | g.48503803A>G | CA490024164 | FBN1 | c.2097T>C (p.Cys699=) n.771T>C c.637-29153T>C (n.637-29153T>C) | gnomAD v4 |
| 15 | g.48503803A>T | CA392337955 | FBN1 | c.2097T>A (p.Cys699Ter) n.771T>A c.637-29153T>A (n.637-29153T>A) | |
| 15 | g.48503805_48503806del | CA658683901 | FBN1 | c.2096_2097del (p.Cys699SerfsTer24) n.770_771del c.637-29154_637-29153del (n.637-29154_637-29153del) | ClinVar dbSNP |
| 15 | g.48503804C>A | CA392337961 | FBN1 | c.2096G>T (p.Cys699Phe) n.770G>T c.637-29154G>T (n.637-29154G>T) | |
| 15 | g.48503804C= | CA2175526408 | FBN1 | c.2096G= (p.Cys699=) n.770G= c.637-29154G= (n.637-29154G=) | |
| 15 | g.48503804C>G | CA392337963 | FBN1 | c.2096G>C (p.Cys699Ser) n.770G>C c.637-29154G>C (n.637-29154G>C) | ClinVar dbSNP |
| 15 | g.48503804C>T | CA392337965 | FBN1 | c.2096G>A (p.Cys699Tyr) n.770G>A c.637-29154G>A (n.637-29154G>A) | |
| 15 | g.48503805A= | CA2175526414 | FBN1 | c.2095T= (p.Cys699=) n.769T= c.637-29155T= (n.637-29155T=) | |
| 15 | g.48503805A>C | CA392337970 | FBN1 | c.2095T>G (p.Cys699Gly) n.769T>G c.637-29155T>G (n.637-29155T>G) | |
| 15 | g.48503805A>G | CA269548887 | FBN1 | c.2095T>C (p.Cys699Arg) n.769T>C c.637-29155T>C (n.637-29155T>C) | dbSNP |
| 15 | g.48503805A>T | CA392337973 | FBN1 | c.2095T>A (p.Cys699Ser) n.769T>A c.637-29155T>A (n.637-29155T>A) | |
| 15 | g.48503805_48503806delinsAC | CA2175526415 | FBN1 | c.2094_2095delinsGT (p.Pro698=) n.768_769delinsGT c.637-29156_637-29155delinsGT (n.637-29156_637-29155delinsGT) | |
| 15 | g.48503806del | CA10588588 | FBN1 | c.2094del (p.Cys699ValfsTer19) n.768del c.637-29156del (n.637-29156del) | ClinVar dbSNP |
| 15 | g.48503806C>A | CA046748 | FBN1 | c.2094G>T (p.Pro698=) n.768G>T c.637-29156G>T (n.637-29156G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503806C= | CA2175526423 | FBN1 | c.2094G= (p.Pro698=) n.768G= c.637-29156G= (n.637-29156G=) | |
| 15 | g.48503806C>G | CA490024165 | FBN1 | c.2094G>C (p.Pro698=) n.768G>C c.637-29156G>C (n.637-29156G>C) | |
| 15 | g.48503806C>T | CA046738 | FBN1 | c.2094G>A (p.Pro698=) n.768G>A c.637-29156G>A (n.637-29156G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503807G>A | CA046724 | FBN1 | c.2093C>T (p.Pro698Leu) n.767C>T c.637-29157C>T (n.637-29157C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48503807G>C | CA392337985 | FBN1 | c.2093C>G (p.Pro698Arg) n.767C>G c.637-29157C>G (n.637-29157C>G) | |
| 15 | g.48503807G= | CA2175526428 | FBN1 | c.2093C= (p.Pro698=) n.767C= c.637-29157C= (n.637-29157C=) | |
| 15 | g.48503807G>T | CA392337987 | FBN1 | c.2093C>A (p.Pro698Gln) n.767C>A c.637-29157C>A (n.637-29157C>A) | |
| 15 | g.48503807_48503808insT | CA2573150770 | FBN1 | c.2092_2093insA (p.Pro698HisfsTer26) n.766_767insA c.637-29158_637-29157insA (n.637-29158_637-29157insA) | dbSNP |
| 15 | g.48503808G>A | CA392337991 | FBN1 | c.2092C>T (p.Pro698Ser) n.766C>T c.637-29158C>T (n.637-29158C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48503808G>C | CA392337993 | FBN1 | c.2092C>G (p.Pro698Ala) n.766C>G c.637-29158C>G (n.637-29158C>G) | |
| 15 | g.48503808G= | CA2175526436 | FBN1 | c.2092C= (p.Pro698=) n.766C= c.637-29158C= (n.637-29158C=) | |
| 15 | g.48503808G>T | CA392337996 | FBN1 | c.2092C>A (p.Pro698Thr) n.766C>A c.637-29158C>A (n.637-29158C>A) | |
| 15 | g.48503809C>A | CA392338002 | FBN1 | c.2091G>T (p.Gln697His) n.765G>T c.637-29159G>T (n.637-29159G>T) | ClinVar dbSNP |
| 15 | g.48503809C= | CA2175526441 | FBN1 | c.2091G= (p.Gln697=) n.765G= c.637-29159G= (n.637-29159G=) | |
| 15 | g.48503809C>G | CA392338015 | FBN1 | c.2091G>C (p.Gln697His) n.765G>C c.637-29159G>C (n.637-29159G>C) | |
| 15 | g.48503809C>T | CA490024166 | FBN1 | c.2091G>A (p.Gln697=) n.765G>A c.637-29159G>A (n.637-29159G>A) | |
| 15 | g.48503810T>A | CA392338019 | FBN1 | c.2090A>T (p.Gln697Leu) n.764A>T c.637-29160A>T (n.637-29160A>T) | |
| 15 | g.48503810T>C | CA046714 | FBN1 | c.2090A>G (p.Gln697Arg) n.764A>G c.637-29160A>G (n.637-29160A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503810T>G | CA392338025 | FBN1 | c.2090A>C (p.Gln697Pro) n.764A>C c.637-29160A>C (n.637-29160A>C) | ClinVar dbSNP COSMIC |
| 15 | g.48503810T= | CA2175526446 | FBN1 | c.2090A= (p.Gln697=) n.764A= c.637-29160A= (n.637-29160A=) | |
| 15 | g.48503811G>A | CA16614443 | FBN1 | c.2089C>T (p.Gln697Ter) n.763C>T c.637-29161C>T (n.637-29161C>T) | ClinVar dbSNP |
| 15 | g.48503811G>C | CA392338035 | FBN1 | c.2089C>G (p.Gln697Glu) n.763C>G c.637-29161C>G (n.637-29161C>G) | |
| 15 | g.48503811G= | CA2175526454 | FBN1 | c.2089C= (p.Gln697=) n.763C= c.637-29161C= (n.637-29161C=) | |
| 15 | g.48503811G>T | CA392338028 | FBN1 | c.2089C>A (p.Gln697Lys) n.763C>A c.637-29161C>A (n.637-29161C>A) | |
| 15 | g.48503812G>A | CA490024167 | FBN1 | c.2088C>T (p.Cys696=) n.762C>T c.637-29162C>T (n.637-29162C>T) | |
| 15 | g.48503812G>C | CA392338040 | FBN1 | c.2088C>G (p.Cys696Trp) n.762C>G c.637-29162C>G (n.637-29162C>G) | |
| 15 | g.48503812G>T | CA392338041 | FBN1 | c.2088C>A (p.Cys696Ter) n.762C>A c.637-29162C>A (n.637-29162C>A) | ClinVar dbSNP |
| 15 | g.48503812_48503813delinsGC | CA2175526456 | FBN1 | c.2087_2088delinsGC (p.Cys696=) n.761_762delinsGC c.637-29163_637-29162delinsGC (n.637-29163_637-29162delinsGC) | |
| 15 | g.48503813del | CA1139663974 | FBN1 | c.2087del (p.Cys696SerfsTer22) n.761del c.637-29163del (n.637-29163del) | ClinVar dbSNP |
| 15 | g.48503813C>A | CA392338042 | FBN1 | c.2087G>T (p.Cys696Phe) n.761G>T c.637-29163G>T (n.637-29163G>T) | ClinVar dbSNP |
| 15 | g.48503813C= | CA2175526461 | FBN1 | c.2087G= (p.Cys696=) n.761G= c.637-29163G= (n.637-29163G=) | |
| 15 | g.48503813C>G | CA392338043 | FBN1 | c.2087G>C (p.Cys696Ser) n.761G>C c.637-29163G>C (n.637-29163G>C) | |
| 15 | g.48503813C>T | CA392338044 | FBN1 | c.2087G>A (p.Cys696Tyr) n.761G>A c.637-29163G>A (n.637-29163G>A) | |
| 15 | g.48503814A>C | CA392338047 | FBN1 | c.2086T>G (p.Cys696Gly) n.760T>G c.637-29164T>G (n.637-29164T>G) | ClinVar dbSNP |
| 15 | g.48503814A>G | CA392338049 | FBN1 | c.2086T>C (p.Cys696Arg) n.760T>C c.637-29164T>C (n.637-29164T>C) | |
| 15 | g.48503814A>T | CA392338051 | FBN1 | c.2086T>A (p.Cys696Ser) n.760T>A c.637-29164T>A (n.637-29164T>A) | |
| 15 | g.48503815A>C | CA490024168 | FBN1 | c.2085T>G (p.Pro695=) n.759T>G c.637-29165T>G (n.637-29165T>G) | |
| 15 | g.48503815A>G | CA490024169 | FBN1 | c.2085T>C (p.Pro695=) n.759T>C c.637-29165T>C (n.637-29165T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503815A>T | CA490024170 | FBN1 | c.2085T>A (p.Pro695=) n.759T>A c.637-29165T>A (n.637-29165T>A) | |
| 15 | g.48503816G>A | CA392338055 | FBN1 | c.2084C>T (p.Pro695Leu) n.758C>T c.637-29166C>T (n.637-29166C>T) | |
| 15 | g.48503816G>C | CA392338056 | FBN1 | c.2084C>G (p.Pro695Arg) n.758C>G c.637-29166C>G (n.637-29166C>G) | dbSNP |
| 15 | g.48503816G= | CA2175526465 | FBN1 | c.2084C= (p.Pro695=) n.758C= c.637-29166C= (n.637-29166C=) | |
| 15 | g.48503816G>T | CA392338061 | FBN1 | c.2084C>A (p.Pro695His) n.758C>A c.637-29166C>A (n.637-29166C>A) | ClinVar dbSNP |
| 15 | g.48503817G>A | CA392338070 | FBN1 | c.2083C>T (p.Pro695Ser) n.757C>T c.637-29167C>T (n.637-29167C>T) | |
| 15 | g.48503817G>C | CA392338068 | FBN1 | c.2083C>G (p.Pro695Ala) n.757C>G c.637-29167C>G (n.637-29167C>G) | |
| 15 | g.48503817G>T | CA392338067 | FBN1 | c.2083C>A (p.Pro695Thr) n.757C>A c.637-29167C>A (n.637-29167C>A) | gnomAD v4 |
| 15 | g.48503818T>A | CA392338073 | FBN1 | c.2082A>T (p.Glu694Asp) n.756A>T c.637-29168A>T (n.637-29168A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503818T>C | CA046705 | FBN1 | c.2082A>G (p.Glu694=) n.756A>G c.637-29168A>G (n.637-29168A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503818T>G | CA392338076 | FBN1 | c.2082A>C (p.Glu694Asp) n.756A>C c.637-29168A>C (n.637-29168A>C) | dbSNP |
| 15 | g.48503818T= | CA2175526469 | FBN1 | c.2082A= (p.Glu694=) n.756A= c.637-29168A= (n.637-29168A=) | |
| 15 | g.48503819T>A | CA392338086 | FBN1 | c.2081A>T (p.Glu694Val) n.755A>T c.637-29169A>T (n.637-29169A>T) | |
| 15 | g.48503819T>C | CA392338089 | FBN1 | c.2081A>G (p.Glu694Gly) n.755A>G c.637-29169A>G (n.637-29169A>G) | |
| 15 | g.48503819T>G | CA392338090 | FBN1 | c.2081A>C (p.Glu694Ala) n.755A>C c.637-29169A>C (n.637-29169A>C) | |
| 15 | g.48503820C>A | CA16614667 | FBN1 | c.2080G>T (p.Glu694Ter) n.754G>T c.637-29170G>T (n.637-29170G>T) | ClinVar dbSNP COSMIC |
| 15 | g.48503820C= | CA2175526474 | FBN1 | c.2080G= (p.Glu694=) n.754G= c.637-29170G= (n.637-29170G=) | |
| 15 | g.48503820C>G | CA392338096 | FBN1 | c.2080G>C (p.Glu694Gln) n.754G>C c.637-29170G>C (n.637-29170G>C) | |
| 15 | g.48503820C>T | CA392338099 | FBN1 | c.2080G>A (p.Glu694Lys) n.754G>A c.637-29170G>A (n.637-29170G>A) | |
| 15 | g.48503821C>A | CA490024171 | FBN1 | c.2079G>T (p.Gly693=) n.753G>T c.637-29171G>T (n.637-29171G>T) | |
| 15 | g.48503821C= | CA2175526482 | FBN1 | c.2079G= (p.Gly693=) n.753G= c.637-29171G= (n.637-29171G=) | |
| 15 | g.48503821C>G | CA490024172 | FBN1 | c.2079G>C (p.Gly693=) n.753G>C c.637-29171G>C (n.637-29171G>C) | |
| 15 | g.48503821C>T | CA046680 | FBN1 | c.2079G>A (p.Gly693=) n.753G>A c.637-29171G>A (n.637-29171G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503822C>A | CA392338104 | FBN1 | c.2078G>T (p.Gly693Val) n.752G>T c.637-29172G>T (n.637-29172G>T) | |
| 15 | g.48503822C= | CA2175526485 | FBN1 | c.2078G= (p.Gly693=) n.752G= c.637-29172G= (n.637-29172G=) | |
| 15 | g.48503822C>G | CA392338108 | FBN1 | c.2078G>C (p.Gly693Ala) n.752G>C c.637-29172G>C (n.637-29172G>C) | |
| 15 | g.48503822C>T | CA046669 | FBN1 | c.2078G>A (p.Gly693Glu) n.752G>A c.637-29172G>A (n.637-29172G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503823C>A | CA392338122 | FBN1 | c.2077G>T (p.Gly693Trp) n.751G>T c.637-29173G>T (n.637-29173G>T) | |
| 15 | g.48503823C>G | CA392338116 | FBN1 | c.2077G>C (p.Gly693Arg) n.751G>C c.637-29173G>C (n.637-29173G>C) | |
| 15 | g.48503823C>T | CA392338118 | FBN1 | c.2077G>A (p.Gly693Arg) n.751G>A c.637-29173G>A (n.637-29173G>A) | |
| 15 | g.48503824A= | CA2175526488 | FBN1 | c.2076T= (p.Phe692=) n.750T= c.637-29174T= (n.637-29174T=) | |
| 15 | g.48503824A>C | CA392338126 | FBN1 | c.2076T>G (p.Phe692Leu) n.750T>G c.637-29174T>G (n.637-29174T>G) | |
| 15 | g.48503824A>G | CA046657 | FBN1 | c.2076T>C (p.Phe692=) n.750T>C c.637-29174T>C (n.637-29174T>C) | dbSNP ExAC gnomAD v2 |
| 15 | g.48503824A>T | CA392338131 | FBN1 | c.2076T>A (p.Phe692Leu) n.750T>A c.637-29174T>A (n.637-29174T>A) | |
| 15 | g.48503825A= | CA2175526492 | FBN1 | c.2075T= (p.Phe692=) n.749T= c.637-29175T= (n.637-29175T=) | |
| 15 | g.48503825A>C | CA392338136 | FBN1 | c.2075T>G (p.Phe692Cys) n.749T>G c.637-29175T>G (n.637-29175T>G) | ClinVar dbSNP |
| 15 | g.48503825A>G | CA392338139 | FBN1 | c.2075T>C (p.Phe692Ser) n.749T>C c.637-29175T>C (n.637-29175T>C) | |
| 15 | g.48503825A>T | CA269548916 | FBN1 | c.2075T>A (p.Phe692Tyr) n.749T>A c.637-29175T>A (n.637-29175T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503826A>C | CA392338143 | FBN1 | c.2074T>G (p.Phe692Val) n.748T>G c.637-29176T>G (n.637-29176T>G) | |
| 15 | g.48503826A>G | CA392338146 | FBN1 | c.2074T>C (p.Phe692Leu) n.748T>C c.637-29176T>C (n.637-29176T>C) | |
| 15 | g.48503826A>T | CA392338148 | FBN1 | c.2074T>A (p.Phe692Ile) n.748T>A c.637-29176T>A (n.637-29176T>A) | |
| 15 | g.48503827T>A | CA490024174 | FBN1 | c.2073A>T (p.Ala691=) n.747A>T c.637-29177A>T (n.637-29177A>T) | |
| 15 | g.48503827T>C | CA490024175 | FBN1 | c.2073A>G (p.Ala691=) n.747A>G c.637-29177A>G (n.637-29177A>G) | |
| 15 | g.48503827T>G | CA490024173 | FBN1 | c.2073A>C (p.Ala691=) n.747A>C c.637-29177A>C (n.637-29177A>C) | |
| 15 | g.48503828G>A | CA392338153 | FBN1 | c.2072C>T (p.Ala691Val) n.746C>T c.637-29178C>T (n.637-29178C>T) | |
| 15 | g.48503828G>C | CA392338154 | FBN1 | c.2072C>G (p.Ala691Gly) n.746C>G c.637-29178C>G (n.637-29178C>G) | |
| 15 | g.48503828G>T | CA392338162 | FBN1 | c.2072C>A (p.Ala691Glu) n.746C>A c.637-29178C>A (n.637-29178C>A) | |
| 15 | g.48503829C>A | CA392338167 | FBN1 | c.2071G>T (p.Ala691Ser) n.745G>T c.637-29179G>T (n.637-29179G>T) | |
| 15 | g.48503829C= | CA2175526498 | FBN1 | c.2071G= (p.Ala691=) n.745G= c.637-29179G= (n.637-29179G=) | |
| 15 | g.48503829C>G | CA012772 | FBN1 | c.2071G>C (p.Ala691Pro) n.745G>C c.637-29179G>C (n.637-29179G>C) | ClinVar dbSNP |
| 15 | g.48503829C>T | CA392338165 | FBN1 | c.2071G>A (p.Ala691Thr) n.745G>A c.637-29179G>A (n.637-29179G>A) | |
| 15 | g.48503830A>C | CA392338174 | FBN1 | c.2070T>G (p.Tyr690Ter) n.744T>G c.637-29180T>G (n.637-29180T>G) | |
| 15 | g.48503830A>G | CA490024176 | FBN1 | c.2070T>C (p.Tyr690=) n.744T>C c.637-29180T>C (n.637-29180T>C) | |
| 15 | g.48503830A>T | CA392338171 | FBN1 | c.2070T>A (p.Tyr690Ter) n.744T>A c.637-29180T>A (n.637-29180T>A) | |
| 15 | g.48503831T>A | CA392338182 | FBN1 | c.2069A>T (p.Tyr690Phe) n.743A>T c.637-29181A>T (n.637-29181A>T) | |
| 15 | g.48503831T>C | CA392338179 | FBN1 | c.2069A>G (p.Tyr690Cys) n.743A>G c.637-29181A>G (n.637-29181A>G) | gnomAD v4 |
| 15 | g.48503831T>G | CA392338183 | FBN1 | c.2069A>C (p.Tyr690Ser) n.743A>C c.637-29181A>C (n.637-29181A>C) | |
| 15 | g.48503832A>C | CA392338187 | FBN1 | c.2068T>G (p.Tyr690Asp) n.742T>G c.637-29182T>G (n.637-29182T>G) | |
| 15 | g.48503832A>G | CA392338191 | FBN1 | c.2068T>C (p.Tyr690His) n.742T>C c.637-29182T>C (n.637-29182T>C) | |
| 15 | g.48503832A>T | CA392338195 | FBN1 | c.2068T>A (p.Tyr690Asn) n.742T>A c.637-29182T>A (n.637-29182T>A) | |
| 15 | g.48503833C>A | CA392338200 | FBN1 | c.2067G>T (p.Glu689Asp) n.741G>T c.637-29183G>T (n.637-29183G>T) | |
| 15 | g.48503833C= | CA2175526500 | FBN1 | c.2067G= (p.Glu689=) n.741G= c.637-29183G= (n.637-29183G=) | |
| 15 | g.48503833C>G | CA392338203 | FBN1 | c.2067G>C (p.Glu689Asp) n.741G>C c.637-29183G>C (n.637-29183G>C) | |
| 15 | g.48503833C>T | CA490024177 | FBN1 | c.2067G>A (p.Glu689=) n.741G>A c.637-29183G>A (n.637-29183G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503834T>A | CA392338207 | FBN1 | c.2066A>T (p.Glu689Val) n.740A>T c.637-29184A>T (n.637-29184A>T) | |
| 15 | g.48503834T>C | CA392338210 | FBN1 | c.2066A>G (p.Glu689Gly) n.740A>G c.637-29184A>G (n.637-29184A>G) | |
| 15 | g.48503834T>G | CA392338211 | FBN1 | c.2066A>C (p.Glu689Ala) n.740A>C c.637-29184A>C (n.637-29184A>C) | COSMIC |
| 15 | g.48503835C>A | CA392338214 | FBN1 | c.2065G>T (p.Glu689Ter) n.739G>T c.637-29185G>T (n.637-29185G>T) | |
| 15 | g.48503835C>G | CA392338216 | FBN1 | c.2065G>C (p.Glu689Gln) n.739G>C c.637-29185G>C (n.637-29185G>C) | |
| 15 | g.48503835C>T | CA392338219 | FBN1 | c.2065G>A (p.Glu689Lys) n.739G>A c.637-29185G>A (n.637-29185G>A) | |
| 15 | g.48503836A>C | CA490024178 | FBN1 | c.2064T>G (p.Thr688=) n.738T>G c.637-29186T>G (n.637-29186T>G) | ClinVar |
| 15 | g.48503836A>G | CA490024179 | FBN1 | c.2064T>C (p.Thr688=) n.738T>C c.637-29186T>C (n.637-29186T>C) | |
| 15 | g.48503836A>T | CA490024180 | FBN1 | c.2064T>A (p.Thr688=) n.738T>A c.637-29186T>A (n.637-29186T>A) | |
| 15 | g.48503836_48503837del | CA2740096671 | FBN1 | c.2063_2064del (p.Thr688ArgfsTer?) n.737_738del c.637-29187_637-29186del (n.637-29187_637-29186del) | ClinVar |
| 15 | g.48503836_48503842delinsAGTGCTG | CA2175526503 | FBN1 | c.2058_2064delinsCAGCACT (p.Ala686=) n.732_738delinsCAGCACT c.637-29192_637-29186delinsCAGCACT (n.637-29192_637-29186delinsCAGCACT) | |
| 15 | g.48503837G>A | CA392338228 | FBN1 | c.2063C>T (p.Thr688Ile) n.737C>T c.637-29187C>T (n.637-29187C>T) | |
| 15 | g.48503837G>C | CA392338225 | FBN1 | c.2063C>G (p.Thr688Ser) n.737C>G c.637-29187C>G (n.637-29187C>G) | |
| 15 | g.48503837G= | CA2175526507 | FBN1 | c.2063C= (p.Thr688=) n.737C= c.637-29187C= (n.637-29187C=) | |
| 15 | g.48503837G>T | CA392338223 | FBN1 | c.2063C>A (p.Thr688Asn) n.737C>A c.637-29187C>A (n.637-29187C>A) | ClinVar dbSNP |
| 15 | g.48503838_48503843del | CA012763 | FBN1 | c.2058_2063del (p.Ser687_Thr688del) n.732_737del c.637-29192_637-29187del (n.637-29192_637-29187del) | ClinVar dbSNP |
| 15 | g.48503838T>A | CA392338231 | FBN1 | c.2062A>T (p.Thr688Ser) n.736A>T c.637-29188A>T (n.637-29188A>T) | |
| 15 | g.48503838T>C | CA392338233 | FBN1 | c.2062A>G (p.Thr688Ala) n.736A>G c.637-29188A>G (n.637-29188A>G) | dbSNP gnomAD v4 |
| 15 | g.48503838T>G | CA392338234 | FBN1 | c.2062A>C (p.Thr688Pro) n.736A>C c.637-29188A>C (n.637-29188A>C) | |
| 15 | g.48503838T= | CA2175526516 | FBN1 | c.2062A= (p.Thr688=) n.736A= c.637-29188A= (n.637-29188A=) | |
| 15 | g.48503839G>A | CA490024181 | FBN1 | c.2061C>T (p.Ser687=) n.735C>T c.637-29189C>T (n.637-29189C>T) | |
| 15 | g.48503839G>C | CA392338235 | FBN1 | c.2061C>G (p.Ser687Arg) n.735C>G c.637-29189C>G (n.637-29189C>G) | |
| 15 | g.48503839G>T | CA392338236 | FBN1 | c.2061C>A (p.Ser687Arg) n.735C>A c.637-29189C>A (n.637-29189C>A) | |
| 15 | g.48503840C>A | CA392338239 | FBN1 | c.2060G>T (p.Ser687Ile) n.734G>T c.637-29190G>T (n.637-29190G>T) | |
| 15 | g.48503840C>G | CA392338241 | FBN1 | c.2060G>C (p.Ser687Thr) n.734G>C c.637-29190G>C (n.637-29190G>C) | |
| 15 | g.48503840C>T | CA392338243 | FBN1 | c.2060G>A (p.Ser687Asn) n.734G>A c.637-29190G>A (n.637-29190G>A) | |
| 15 | g.48503841T>A | CA392338248 | FBN1 | c.2059A>T (p.Ser687Cys) n.733A>T c.637-29191A>T (n.637-29191A>T) | |
| 15 | g.48503841T>C | CA392338251 | FBN1 | c.2059A>G (p.Ser687Gly) n.733A>G c.637-29191A>G (n.637-29191A>G) | dbSNP COSMIC |
| 15 | g.48503841T>G | CA392338254 | FBN1 | c.2059A>C (p.Ser687Arg) n.733A>C c.637-29191A>C (n.637-29191A>C) | |
| 15 | g.48503841T= | CA2175526519 | FBN1 | c.2059A= (p.Ser687=) n.733A= c.637-29191A= (n.637-29191A=) | |
| 15 | g.48503842G>A | CA490024182 | FBN1 | c.2058C>T (p.Ala686=) n.732C>T c.637-29192C>T (n.637-29192C>T) | |
| 15 | g.48503842G>C | CA490024183 | FBN1 | c.2058C>G (p.Ala686=) n.732C>G c.637-29192C>G (n.637-29192C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503842G= | CA2175526524 | FBN1 | c.2058C= (p.Ala686=) n.732C= c.637-29192C= (n.637-29192C=) | |
| 15 | g.48503842G>T | CA046647 | FBN1 | c.2058C>A (p.Ala686=) n.732C>A c.637-29192C>A (n.637-29192C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503842_48503848del | CA2695220766 | FBN1 | c.2052_2058del (p.Cys684Ter) n.726_732del c.637-29198_637-29192del (n.637-29198_637-29192del) | |
| 15 | g.48503843G>A | CA392338264 | FBN1 | c.2057C>T (p.Ala686Val) n.731C>T c.637-29193C>T (n.637-29193C>T) | dbSNP |
| 15 | g.48503843G>C | CA392338263 | FBN1 | c.2057C>G (p.Ala686Gly) n.731C>G c.637-29193C>G (n.637-29193C>G) | |
| 15 | g.48503843G= | CA2175526529 | FBN1 | c.2057C= (p.Ala686=) n.731C= c.637-29193C= (n.637-29193C=) | |
| 15 | g.48503843G>T | CA012756 | FBN1 | c.2057C>A (p.Ala686Asp) n.731C>A c.637-29193C>A (n.637-29193C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503844C>A | CA392338273 | FBN1 | c.2056G>T (p.Ala686Ser) n.730G>T c.637-29194G>T (n.637-29194G>T) | |
| 15 | g.48503844C= | CA2175526539 | FBN1 | c.2056G= (p.Ala686=) n.730G= c.637-29194G= (n.637-29194G=) | |
| 15 | g.48503844C>G | CA392338269 | FBN1 | c.2056G>C (p.Ala686Pro) n.730G>C c.637-29194G>C (n.637-29194G>C) | |
| 15 | g.48503844C>T | CA012746 | FBN1 | c.2056G>A (p.Ala686Thr) n.730G>A c.637-29194G>A (n.637-29194G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503845G>A | CA012737 | FBN1 | c.2055C>T (p.Cys685=) n.729C>T c.637-29195C>T (n.637-29195C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503845G>C | CA012728 | FBN1 | c.2055C>G (p.Cys685Trp) n.729C>G c.637-29195C>G (n.637-29195C>G) | ClinVar dbSNP |
| 15 | g.48503845G= | CA2175526550 | FBN1 | c.2055C= (p.Cys685=) n.729C= c.637-29195C= (n.637-29195C=) | |
| 15 | g.48503845G>T | CA012720 | FBN1 | c.2055C>A (p.Cys685Ter) n.729C>A c.637-29195C>A (n.637-29195C>A) | ClinVar dbSNP |
| 15 | g.48503848_48503853del | CA2695220767 | FBN1 | c.2050_2055del (p.Cys684_Cys685del) n.724_729del c.637-29200_637-29195del (n.637-29200_637-29195del) | |
| 15 | g.48503846C>A | CA392338282 | FBN1 | c.2054G>T (p.Cys685Phe) n.728G>T c.637-29196G>T (n.637-29196G>T) | |
| 15 | g.48503846C= | CA2175526567 | FBN1 | c.2054G= (p.Cys685=) n.728G= c.637-29196G= (n.637-29196G=) | |
| 15 | g.48503846C>G | CA392338286 | FBN1 | c.2054G>C (p.Cys685Ser) n.728G>C c.637-29196G>C (n.637-29196G>C) | |
| 15 | g.48503846C>T | CA392338288 | FBN1 | c.2054G>A (p.Cys685Tyr) n.728G>A c.637-29196G>A (n.637-29196G>A) | ClinVar dbSNP |
| 15 | g.48503846dup | CA2573150775 | FBN1 | c.2054dup (p.Cys685TrpfsTer5) n.728dup c.637-29196dup (n.637-29196dup) | ClinVar dbSNP |
| 15 | g.48503846_48503850dup | CA16619971 | FBN1 | c.2050_2054dup (p.Ala686ValfsTer?) n.724_728dup c.637-29200_637-29196dup (n.637-29200_637-29196dup) | ClinVar dbSNP |
| 15 | g.48503847A= | CA2175526575 | FBN1 | c.2053T= (p.Cys685=) n.727T= c.637-29197T= (n.637-29197T=) | |
| 15 | g.48503847A>C | CA392338291 | FBN1 | c.2053T>G (p.Cys685Gly) n.727T>G c.637-29197T>G (n.637-29197T>G) | |
| 15 | g.48503847A>G | CA392338294 | FBN1 | c.2053T>C (p.Cys685Arg) n.727T>C c.637-29197T>C (n.637-29197T>C) | ClinVar dbSNP |
| 15 | g.48503847A>T | CA392338297 | FBN1 | c.2053T>A (p.Cys685Ser) n.727T>A c.637-29197T>A (n.637-29197T>A) | ClinVar dbSNP |
| 15 | g.48503848A>C | CA392338302 | FBN1 | c.2052T>G (p.Cys684Trp) n.726T>G c.637-29198T>G (n.637-29198T>G) | |
| 15 | g.48503848A>G | CA490024184 | FBN1 | c.2052T>C (p.Cys684=) n.726T>C c.637-29198T>C (n.637-29198T>C) | |
| 15 | g.48503848A>T | CA392338303 | FBN1 | c.2052T>A (p.Cys684Ter) n.726T>A c.637-29198T>A (n.637-29198T>A) | |
| 15 | g.48503854_48503872del | CA1139532474 | FBN1 | c.2034_2052del (p.Thr679AlafsTer?) n.708_726del c.637-29216_637-29198del (n.637-29216_637-29198del) | ClinVar |
| 15 | g.48503849C>A | CA392338312 | FBN1 | c.2051G>T (p.Cys684Phe) n.725G>T c.637-29199G>T (n.637-29199G>T) | ClinVar dbSNP |
| 15 | g.48503849C= | CA2175526583 | FBN1 | c.2051G= (p.Cys684=) n.725G= c.637-29199G= (n.637-29199G=) | |
| 15 | g.48503849C>G | CA392338308 | FBN1 | c.2051G>C (p.Cys684Ser) n.725G>C c.637-29199G>C (n.637-29199G>C) | ClinVar dbSNP |
| 15 | g.48503849C>T | CA392338310 | FBN1 | c.2051G>A (p.Cys684Tyr) n.725G>A c.637-29199G>A (n.637-29199G>A) | ClinVar dbSNP |
| 15 | g.48503850A= | CA2175526586 | FBN1 | c.2050T= (p.Cys684=) n.724T= c.637-29200T= (n.637-29200T=) | |
| 15 | g.48503850A>C | CA392338317 | FBN1 | c.2050T>G (p.Cys684Gly) n.724T>G c.637-29200T>G (n.637-29200T>G) | |
| 15 | g.48503850A>G | CA392338320 | FBN1 | c.2050T>C (p.Cys684Arg) n.724T>C c.637-29200T>C (n.637-29200T>C) | ClinVar dbSNP |
| 15 | g.48503850A>T | CA392338322 | FBN1 | c.2050T>A (p.Cys684Ser) n.724T>A c.637-29200T>A (n.637-29200T>A) | |
| 15 | g.48503851G>A | CA490024185 | FBN1 | c.2049C>T (p.Cys683=) n.723C>T c.637-29201C>T (n.637-29201C>T) | |
| 15 | g.48503851G>C | CA392338326 | FBN1 | c.2049C>G (p.Cys683Trp) n.723C>G c.637-29201C>G (n.637-29201C>G) | ClinVar |
| 15 | g.48503851G>T | CA392338331 | FBN1 | c.2049C>A (p.Cys683Ter) n.723C>A c.637-29201C>A (n.637-29201C>A) | |
| 15 | g.48503852C>A | CA392338333 | FBN1 | c.2048G>T (p.Cys683Phe) n.722G>T c.637-29202G>T (n.637-29202G>T) | |
| 15 | g.48503852C>G | CA392338335 | FBN1 | c.2048G>C (p.Cys683Ser) n.722G>C c.637-29202G>C (n.637-29202G>C) | |
| 15 | g.48503852C>T | CA392338336 | FBN1 | c.2048G>A (p.Cys683Tyr) n.722G>A c.637-29202G>A (n.637-29202G>A) | ClinVar dbSNP COSMIC |
| 15 | g.48503854_48503857del | CA2695202074 | FBN1 | c.2045_2048del (p.Glu682AlafsTer?) n.719_722del c.637-29205_637-29202del (n.637-29205_637-29202del) | |
| 15 | g.48503853A>C | CA392338341 | FBN1 | c.2047T>G (p.Cys683Gly) n.721T>G c.637-29203T>G (n.637-29203T>G) | |
| 15 | g.48503853A>G | CA392338343 | FBN1 | c.2047T>C (p.Cys683Arg) n.721T>C c.637-29203T>C (n.637-29203T>C) | COSMIC |
| 15 | g.48503853A>T | CA392338347 | FBN1 | c.2047T>A (p.Cys683Ser) n.721T>A c.637-29203T>A (n.637-29203T>A) | |
| 15 | g.48503854T>A | CA392338351 | FBN1 | c.2046A>T (p.Glu682Asp) n.720A>T c.637-29204A>T (n.637-29204A>T) | |
| 15 | g.48503854T>C | CA490024187 | FBN1 | c.2046A>G (p.Glu682=) n.720A>G c.637-29204A>G (n.637-29204A>G) | |
| 15 | g.48503854T>G | CA392338354 | FBN1 | c.2046A>C (p.Glu682Asp) n.720A>C c.637-29204A>C (n.637-29204A>C) | dbSNP |
| 15 | g.48503854T= | CA2175526590 | FBN1 | c.2046A= (p.Glu682=) n.720A= c.637-29204A= (n.637-29204A=) | |
| 15 | g.48503855T>A | CA392338364 | FBN1 | c.2045A>T (p.Glu682Val) n.719A>T c.637-29205A>T (n.637-29205A>T) | |
| 15 | g.48503855T>C | CA392338361 | FBN1 | c.2045A>G (p.Glu682Gly) n.719A>G c.637-29205A>G (n.637-29205A>G) | |
| 15 | g.48503855T>G | CA392338358 | FBN1 | c.2045A>C (p.Glu682Ala) n.719A>C c.637-29205A>C (n.637-29205A>C) | |
| 15 | g.48503856C>A | CA392338368 | FBN1 | c.2044G>T (p.Glu682Ter) n.718G>T c.637-29206G>T (n.637-29206G>T) | |
| 15 | g.48503856C= | CA2175526593 | FBN1 | c.2044G= (p.Glu682=) n.718G= c.637-29206G= (n.637-29206G=) | |
| 15 | g.48503856C>G | CA269548980 | FBN1 | c.2044G>C (p.Glu682Gln) n.718G>C c.637-29206G>C (n.637-29206G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503856C>T | CA392338371 | FBN1 | c.2044G>A (p.Glu682Lys) n.718G>A c.637-29206G>A (n.637-29206G>A) | gnomAD v4 COSMIC |
| 15 | g.48503857A= | CA2175526596 | FBN1 | c.2043T= (p.Ser681=) n.717T= c.637-29207T= (n.637-29207T=) | |
| 15 | g.48503857A>C | CA490024189 | FBN1 | c.2043T>G (p.Ser681=) n.717T>G c.637-29207T>G (n.637-29207T>G) | |
| 15 | g.48503857A>G | CA046617 | FBN1 | c.2043T>C (p.Ser681=) n.717T>C c.637-29207T>C (n.637-29207T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503857A>T | CA490024188 | FBN1 | c.2043T>A (p.Ser681=) n.717T>A c.637-29207T>A (n.637-29207T>A) | |
| 15 | g.48503858G>A | CA392338377 | FBN1 | c.2042C>T (p.Ser681Phe) n.716C>T c.637-29208C>T (n.637-29208C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503858G>C | CA392338379 | FBN1 | c.2042C>G (p.Ser681Cys) n.716C>G c.637-29208C>G (n.637-29208C>G) | |
| 15 | g.48503858G= | CA2175526600 | FBN1 | c.2042C= (p.Ser681=) n.716C= c.637-29208C= (n.637-29208C=) | |
| 15 | g.48503858G>T | CA392338381 | FBN1 | c.2042C>A (p.Ser681Tyr) n.716C>A c.637-29208C>A (n.637-29208C>A) | ClinVar dbSNP |
| 15 | g.48503859A>C | CA392338385 | FBN1 | c.2041T>G (p.Ser681Ala) n.715T>G c.637-29209T>G (n.637-29209T>G) | |
| 15 | g.48503859A>G | CA392338386 | FBN1 | c.2041T>C (p.Ser681Pro) n.715T>C c.637-29209T>C (n.637-29209T>C) | |
| 15 | g.48503859A>T | CA392338389 | FBN1 | c.2041T>A (p.Ser681Thr) n.715T>A c.637-29209T>A (n.637-29209T>A) | |
| 15 | g.48503860T>A | CA392338393 | FBN1 | c.2040A>T (p.Lys680Asn) n.714A>T c.637-29210A>T (n.637-29210A>T) | |
| 15 | g.48503860T>C | CA490024190 | FBN1 | c.2040A>G (p.Lys680=) n.714A>G c.637-29210A>G (n.637-29210A>G) | |
| 15 | g.48503860T>G | CA392338395 | FBN1 | c.2040A>C (p.Lys680Asn) n.714A>C c.637-29210A>C (n.637-29210A>C) | |
| 15 | g.48503861T>A | CA392338398 | FBN1 | c.2039A>T (p.Lys680Ile) n.713A>T c.637-29211A>T (n.637-29211A>T) | |
| 15 | g.48503861T>C | CA392338401 | FBN1 | c.2039A>G (p.Lys680Arg) n.713A>G c.637-29211A>G (n.637-29211A>G) | |
| 15 | g.48503861T>G | CA392338403 | FBN1 | c.2039A>C (p.Lys680Thr) n.713A>C c.637-29211A>C (n.637-29211A>C) | |
| 15 | g.48503862T>A | CA392338413 | FBN1 | c.2038A>T (p.Lys680Ter) n.712A>T c.637-29212A>T (n.637-29212A>T) | |
| 15 | g.48503862T>C | CA392338407 | FBN1 | c.2038A>G (p.Lys680Glu) n.712A>G c.637-29212A>G (n.637-29212A>G) | ClinVar |
| 15 | g.48503862T>G | CA392338410 | FBN1 | c.2038A>C (p.Lys680Gln) n.712A>C c.637-29212A>C (n.637-29212A>C) | |
| 15 | g.48503863A>C | CA490024191 | FBN1 | c.2037T>G (p.Thr679=) n.711T>G c.637-29213T>G (n.637-29213T>G) | |
| 15 | g.48503863A>G | CA490024192 | FBN1 | c.2037T>C (p.Thr679=) n.711T>C c.637-29213T>C (n.637-29213T>C) | |
| 15 | g.48503863A>T | CA490024193 | FBN1 | c.2037T>A (p.Thr679=) n.711T>A c.637-29213T>A (n.637-29213T>A) | |
| 15 | g.48503864G>A | CA392338416 | FBN1 | c.2036C>T (p.Thr679Ile) n.710C>T c.637-29214C>T (n.637-29214C>T) | |
| 15 | g.48503864G>C | CA392338419 | FBN1 | c.2036C>G (p.Thr679Ser) n.710C>G c.637-29214C>G (n.637-29214C>G) | |
| 15 | g.48503864G>T | CA392338422 | FBN1 | c.2036C>A (p.Thr679Asn) n.710C>A c.637-29214C>A (n.637-29214C>A) | |
| 15 | g.48503865T>A | CA392338426 | FBN1 | c.2035A>T (p.Thr679Ser) n.709A>T c.637-29215A>T (n.637-29215A>T) | |
| 15 | g.48503865T>C | CA392338429 | FBN1 | c.2035A>G (p.Thr679Ala) n.709A>G c.637-29215A>G (n.637-29215A>G) | |
| 15 | g.48503865T>G | CA392338432 | FBN1 | c.2035A>C (p.Thr679Pro) n.709A>C c.637-29215A>C (n.637-29215A>C) | |
| 15 | g.48503866G>A | CA490024194 | FBN1 | c.2034C>T (p.Val678=) n.708C>T c.637-29216C>T (n.637-29216C>T) | |
| 15 | g.48503866G>C | CA490024195 | FBN1 | c.2034C>G (p.Val678=) n.708C>G c.637-29216C>G (n.637-29216C>G) | |
| 15 | g.48503866G>T | CA490024196 | FBN1 | c.2034C>A (p.Val678=) n.708C>A c.637-29216C>A (n.637-29216C>A) | |
| 15 | g.48503867A>C | CA392338434 | FBN1 | c.2033T>G (p.Val678Gly) n.707T>G c.637-29217T>G (n.637-29217T>G) | |
| 15 | g.48503867A>G | CA392338435 | FBN1 | c.2033T>C (p.Val678Ala) n.707T>C c.637-29217T>C (n.637-29217T>C) | |
| 15 | g.48503867A>T | CA392338437 | FBN1 | c.2033T>A (p.Val678Asp) n.707T>A c.637-29217T>A (n.637-29217T>A) | |
| 15 | g.48503868C>A | CA392338439 | FBN1 | c.2032G>T (p.Val678Phe) n.706G>T c.637-29218G>T (n.637-29218G>T) | |
| 15 | g.48503868C>G | CA392338441 | FBN1 | c.2032G>C (p.Val678Leu) n.706G>C c.637-29218G>C (n.637-29218G>C) | |
| 15 | g.48503868C>T | CA392338443 | FBN1 | c.2032G>A (p.Val678Ile) n.706G>A c.637-29218G>A (n.637-29218G>A) | |
| 15 | g.48503869A= | CA2175526604 | FBN1 | c.2031T= (p.Ala677=) n.705T= c.637-29219T= (n.637-29219T=) | |
| 15 | g.48503869A>C | CA490024197 | FBN1 | c.2031T>G (p.Ala677=) n.705T>G c.637-29219T>G (n.637-29219T>G) | |
| 15 | g.48503869A>G | CA490024198 | FBN1 | c.2031T>C (p.Ala677=) n.705T>C c.637-29219T>C (n.637-29219T>C) | ClinVar |
| 15 | g.48503869A>T | CA269548989 | FBN1 | c.2031T>A (p.Ala677=) n.705T>A c.637-29219T>A (n.637-29219T>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503870G>A | CA392338451 | FBN1 | c.2030C>T (p.Ala677Val) n.704C>T c.637-29220C>T (n.637-29220C>T) | |
| 15 | g.48503870G>C | CA392338446 | FBN1 | c.2030C>G (p.Ala677Gly) n.704C>G c.637-29220C>G (n.637-29220C>G) | |
| 15 | g.48503870G>T | CA392338448 | FBN1 | c.2030C>A (p.Ala677Asp) n.704C>A c.637-29220C>A (n.637-29220C>A) | |
| 15 | g.48503871C>A | CA392338452 | FBN1 | c.2029G>T (p.Ala677Ser) n.703G>T c.637-29221G>T (n.637-29221G>T) | |
| 15 | g.48503871C= | CA2175526610 | FBN1 | c.2029G= (p.Ala677=) n.703G= c.637-29221G= (n.637-29221G=) | |
| 15 | g.48503871C>G | CA392338455 | FBN1 | c.2029G>C (p.Ala677Pro) n.703G>C c.637-29221G>C (n.637-29221G>C) | |
| 15 | g.48503871C>T | CA392338457 | FBN1 | c.2029G>A (p.Ala677Thr) n.703G>A c.637-29221G>A (n.637-29221G>A) | |
| 15 | g.48503871_48503872insT | CA16614828 | FBN1 | c.2028_2029insA (p.Ala677SerfsTer4) n.702_703insA c.637-29222_637-29221insA (n.637-29222_637-29221insA) | ClinVar dbSNP |
| 15 | g.48503872A>C | CA490024199 | FBN1 | c.2028T>G (p.Gly676=) n.702T>G c.637-29222T>G (n.637-29222T>G) | |
| 15 | g.48503872A>G | CA490024200 | FBN1 | c.2028T>C (p.Gly676=) n.702T>C c.637-29222T>C (n.637-29222T>C) | |
| 15 | g.48503872A>T | CA490024201 | FBN1 | c.2028T>A (p.Gly676=) n.702T>A c.637-29222T>A (n.637-29222T>A) | |
| 15 | g.48503873C>A | CA392338461 | FBN1 | c.2027G>T (p.Gly676Val) n.701G>T c.637-29223G>T (n.637-29223G>T) | |
| 15 | g.48503873C= | CA2175526617 | FBN1 | c.2027G= (p.Gly676=) n.701G= c.637-29223G= (n.637-29223G=) | |
| 15 | g.48503873C>G | CA046605 | FBN1 | c.2027G>C (p.Gly676Ala) n.701G>C c.637-29223G>C (n.637-29223G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503873C>T | CA392338458 | FBN1 | c.2027G>A (p.Gly676Asp) n.701G>A c.637-29223G>A (n.637-29223G>A) | |
| 15 | g.48503873_48503877delinsCCAAA | CA2175526619 | FBN1 | c.2023_2027delinsTTTGG (p.Phe675=) n.697_701delinsTTTGG c.637-29227_637-29223delinsTTTGG (n.637-29227_637-29223delinsTTTGG) | |
| 15 | g.48503874C>A | CA392338463 | FBN1 | c.2026G>T (p.Gly676Cys) n.700G>T c.637-29224G>T (n.637-29224G>T) | ClinVar dbSNP |
| 15 | g.48503874C>G | CA392338465 | FBN1 | c.2026G>C (p.Gly676Arg) n.700G>C c.637-29224G>C (n.637-29224G>C) | |
| 15 | g.48503874C>T | CA392338467 | FBN1 | c.2026G>A (p.Gly676Ser) n.700G>A c.637-29224G>A (n.637-29224G>A) | |
| 15 | g.48503878_48503881del | CA10603348 | FBN1 | c.2023_2026del (p.Phe675ValfsTer?) n.697_700del c.637-29227_637-29224del (n.637-29227_637-29224del) | ClinVar dbSNP |
| 15 | g.48503875A>C | CA392338470 | FBN1 | c.2025T>G (p.Phe675Leu) n.699T>G c.637-29225T>G (n.637-29225T>G) | |
| 15 | g.48503875A>G | CA490024202 | FBN1 | c.2025T>C (p.Phe675=) n.699T>C c.637-29225T>C (n.637-29225T>C) | |
| 15 | g.48503875A>T | CA392338472 | FBN1 | c.2025T>A (p.Phe675Leu) n.699T>A c.637-29225T>A (n.637-29225T>A) | |
| 15 | g.48503876A>C | CA392338474 | FBN1 | c.2024T>G (p.Phe675Cys) n.698T>G c.637-29226T>G (n.637-29226T>G) | |
| 15 | g.48503876A>G | CA392338478 | FBN1 | c.2024T>C (p.Phe675Ser) n.698T>C c.637-29226T>C (n.637-29226T>C) | |
| 15 | g.48503876A>T | CA392338476 | FBN1 | c.2024T>A (p.Phe675Tyr) n.698T>A c.637-29226T>A (n.637-29226T>A) | |
| 15 | g.48503877A>C | CA392338479 | FBN1 | c.2023T>G (p.Phe675Val) n.697T>G c.637-29227T>G (n.637-29227T>G) | |
| 15 | g.48503877A>G | CA392338481 | FBN1 | c.2023T>C (p.Phe675Leu) n.697T>C c.637-29227T>C (n.637-29227T>C) | |
| 15 | g.48503877A>T | CA392338483 | FBN1 | c.2023T>A (p.Phe675Ile) n.697T>A c.637-29227T>A (n.637-29227T>A) | |
| 15 | g.48503878C>A | CA392338485 | FBN1 | c.2022G>T (p.Leu674Phe) n.696G>T c.637-29228G>T (n.637-29228G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48503878C= | CA2175526627 | FBN1 | c.2022G= (p.Leu674=) n.696G= c.637-29228G= (n.637-29228G=) | |
| 15 | g.48503878C>G | CA012711 | FBN1 | c.2022G>C (p.Leu674Phe) n.696G>C c.637-29228G>C (n.637-29228G>C) | ClinVar dbSNP |
| 15 | g.48503878C>T | CA490024206 | FBN1 | c.2022G>A (p.Leu674=) n.696G>A c.637-29228G>A (n.637-29228G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48503879A= | CA2175526631 | FBN1 | c.2021T= (p.Leu674=) n.695T= c.637-29229T= (n.637-29229T=) | |
| 15 | g.48503879A>C | CA392338492 | FBN1 | c.2021T>G (p.Leu674Trp) n.695T>G c.637-29229T>G (n.637-29229T>G) | |
| 15 | g.48503879A>G | CA392338496 | FBN1 | c.2021T>C (p.Leu674Ser) n.695T>C c.637-29229T>C (n.637-29229T>C) | dbSNP |
| 15 | g.48503879A>T | CA392338505 | FBN1 | c.2021T>A (p.Leu674Ter) n.695T>A c.637-29229T>A (n.637-29229T>A) | |
| 15 | g.48503881del | CA2580089581 | FBN1 | c.2021del (p.Leu674CysfsTer?) n.695del c.637-29229del (n.637-29229del) | ClinVar |
| 15 | g.48503880A= | CA2175526637 | FBN1 | c.2020T= (p.Leu674=) n.694T= c.637-29230T= (n.637-29230T=) | |
| 15 | g.48503880A>C | CA392338511 | FBN1 | c.2020T>G (p.Leu674Val) n.694T>G c.637-29230T>G (n.637-29230T>G) | |
| 15 | g.48503880A>G | CA046592 | FBN1 | c.2020T>C (p.Leu674=) n.694T>C c.637-29230T>C (n.637-29230T>C) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48503880A>T | CA392338515 | FBN1 | c.2020T>A (p.Leu674Met) n.694T>A c.637-29230T>A (n.637-29230T>A) | |
| 15 | g.48503881A>C | CA490024215 | FBN1 | c.2019T>G (p.Pro673=) n.693T>G c.637-29231T>G (n.637-29231T>G) | |
| 15 | g.48503881A>G | CA490024218 | FBN1 | c.2019T>C (p.Pro673=) n.693T>C c.637-29231T>C (n.637-29231T>C) | |
| 15 | g.48503881A>T | CA490024220 | FBN1 | c.2019T>A (p.Pro673=) n.693T>A c.637-29231T>A (n.637-29231T>A) | |
| 15 | g.48503882G>A | CA392338519 | FBN1 | c.2018C>T (p.Pro673Leu) n.692C>T c.637-29232C>T (n.637-29232C>T) | |
| 15 | g.48503882G>C | CA392338524 | FBN1 | c.2018C>G (p.Pro673Arg) n.692C>G c.637-29232C>G (n.637-29232C>G) | |
| 15 | g.48503882G>T | CA392338522 | FBN1 | c.2018C>A (p.Pro673His) n.692C>A c.637-29232C>A (n.637-29232C>A) | |
| 15 | g.48503882_48503891delinsAGCACCAA | CA2580089583 | FBN1 | c.2009_2018delinsTTGGTGCT (p.Cys670PhefsTer10) n.683_692delinsTTGGTGCT c.637-29241_637-29232delinsTTGGTGCT (n.637-29241_637-29232delinsTTGGTGCT) | ClinVar |