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.48503737A= | CA2175526308 | FBN1 | c.2113+50T= (n.2113+50T=) n.787+50T= c.637-29087T= (n.637-29087T=) | |
| 15 | g.48503737A>C | CA2575717483 | FBN1 | c.2113+50T>G (n.2113+50T>G) n.787+50T>G c.637-29087T>G (n.637-29087T>G) | |
| 15 | g.48503737A>T | CA617839081 | FBN1 | c.2113+50T>A (n.2113+50T>A) n.787+50T>A c.637-29087T>A (n.637-29087T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503738T>C | CA617839082 | FBN1 | c.2113+49A>G (n.2113+49A>G) n.787+49A>G c.637-29088A>G (n.637-29088A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503738T= | CA2175526310 | FBN1 | c.2113+49A= (n.2113+49A=) n.787+49A= c.637-29088A= (n.637-29088A=) | |
| 15 | g.48503740G>T | CA2628335737 | FBN1 | c.2113+47C>A (n.2113+47C>A) n.787+47C>A c.637-29090C>A (n.637-29090C>A) | gnomAD v4 |
| 15 | g.48503742G>A | CA617839083 | FBN1 | c.2113+45C>T (n.2113+45C>T) n.787+45C>T c.637-29092C>T (n.637-29092C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503742G= | CA2175526311 | FBN1 | c.2113+45C= (n.2113+45C=) n.787+45C= c.637-29092C= (n.637-29092C=) | |
| 15 | g.48503742G>T | CA2575717485 | FBN1 | c.2113+45C>A (n.2113+45C>A) n.787+45C>A c.637-29092C>A (n.637-29092C>A) | |
| 15 | g.48503744C= | CA2175526312 | FBN1 | c.2113+43G= (n.2113+43G=) n.787+43G= c.637-29094G= (n.637-29094G=) | |
| 15 | g.48503744C>T | CA617839084 | FBN1 | c.2113+43G>A (n.2113+43G>A) n.787+43G>A c.637-29094G>A (n.637-29094G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503745A>T | CA2628335740 | FBN1 | c.2113+42T>A (n.2113+42T>A) n.787+42T>A c.637-29095T>A (n.637-29095T>A) | gnomAD v4 |
| 15 | g.48503749G>A | CA2628335741 | FBN1 | c.2113+38C>T (n.2113+38C>T) n.787+38C>T c.637-29099C>T (n.637-29099C>T) | gnomAD v4 |
| 15 | g.48503749G= | CA2175526314 | FBN1 | c.2113+38C= (n.2113+38C=) n.787+38C= c.637-29099C= (n.637-29099C=) | |
| 15 | g.48503749G>T | CA617839085 | FBN1 | c.2113+38C>A (n.2113+38C>A) n.787+38C>A c.637-29099C>A (n.637-29099C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503751C>A | CA2628335742 | FBN1 | c.2113+36G>T (n.2113+36G>T) n.787+36G>T c.637-29101G>T (n.637-29101G>T) | gnomAD v4 |
| 15 | g.48503751C= | CA2175526315 | FBN1 | c.2113+36G= (n.2113+36G=) n.787+36G= c.637-29101G= (n.637-29101G=) | |
| 15 | g.48503751C>T | CA2175526316 | FBN1 | c.2113+36G>A (n.2113+36G>A) n.787+36G>A c.637-29101G>A (n.637-29101G>A) | dbSNP |
| 15 | g.48503753G>C | CA2628335744 | FBN1 | c.2113+34C>G (n.2113+34C>G) n.787+34C>G c.637-29103C>G (n.637-29103C>G) | gnomAD v4 |
| 15 | g.48503757G>A | CA046825 | FBN1 | c.2113+30C>T (n.2113+30C>T) n.787+30C>T c.637-29107C>T (n.637-29107C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503757G= | CA2175526317 | FBN1 | c.2113+30C= (n.2113+30C=) n.787+30C= c.637-29107C= (n.637-29107C=) | |
| 15 | g.48503759A>G | CA2575717487 | FBN1 | c.2113+28T>C (n.2113+28T>C) n.787+28T>C c.637-29109T>C (n.637-29109T>C) | gnomAD v4 |
| 15 | g.48503760C= | CA2175526320 | FBN1 | c.2113+27G= (n.2113+27G=) n.787+27G= c.637-29110G= (n.637-29110G=) | |
| 15 | g.48503760C>G | CA2175526321 | FBN1 | c.2113+27G>C (n.2113+27G>C) n.787+27G>C c.637-29110G>C (n.637-29110G>C) | dbSNP gnomAD v4 |
| 15 | g.48503760C>T | CA046818 | FBN1 | c.2113+27G>A (n.2113+27G>A) n.787+27G>A c.637-29110G>A (n.637-29110G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503761G>A | CA046809 | FBN1 | c.2113+26C>T (n.2113+26C>T) n.787+26C>T c.637-29111C>T (n.637-29111C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503761G>C | CA2628335746 | FBN1 | c.2113+26C>G (n.2113+26C>G) n.787+26C>G c.637-29111C>G (n.637-29111C>G) | gnomAD v4 |
| 15 | g.48503761G= | CA2175526323 | FBN1 | c.2113+26C= (n.2113+26C=) n.787+26C= c.637-29111C= (n.637-29111C=) | |
| 15 | g.48503761G>T | CA2628335747 | FBN1 | c.2113+26C>A (n.2113+26C>A) n.787+26C>A c.637-29111C>A (n.637-29111C>A) | gnomAD v4 |
| 15 | g.48503762_48503763delinsAG | CA2175526325 | FBN1 | c.2113+24_2113+25delinsCT (n.2113+24_2113+25delinsCT) n.787+24_787+25delinsCT c.637-29113_637-29112delinsCT (n.637-29113_637-29112delinsCT) | |
| 15 | g.48503763G>A | CA046799 | FBN1 | c.2113+24C>T (n.2113+24C>T) n.787+24C>T c.637-29113C>T (n.637-29113C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503763G= | CA2175526326 | FBN1 | c.2113+24C= (n.2113+24C=) n.787+24C= c.637-29113C= (n.637-29113C=) | |
| 15 | g.48503765del | CA969562636 | FBN1 | c.2113+24del (n.2113+24del) n.787+24del c.637-29113del (n.637-29113del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503764G>A | CA617839086 | FBN1 | c.2113+23C>T (n.2113+23C>T) n.787+23C>T c.637-29114C>T (n.637-29114C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503764G>C | CA2175526330 | FBN1 | c.2113+23C>G (n.2113+23C>G) n.787+23C>G c.637-29114C>G (n.637-29114C>G) | dbSNP |
| 15 | g.48503764G= | CA2175526329 | FBN1 | c.2113+23C= (n.2113+23C=) n.787+23C= c.637-29114C= (n.637-29114C=) | |
| 15 | g.48503765G= | CA2175526332 | FBN1 | c.2113+22C= (n.2113+22C=) n.787+22C= c.637-29115C= (n.637-29115C=) | |
| 15 | g.48503765G>T | CA713413597 | FBN1 | c.2113+22C>A (n.2113+22C>A) n.787+22C>A c.637-29115C>A (n.637-29115C>A) | dbSNP |
| 15 | g.48503768T>A | CA046793 | FBN1 | c.2113+19A>T (n.2113+19A>T) n.787+19A>T c.637-29118A>T (n.637-29118A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503768T= | CA2175526336 | FBN1 | c.2113+19A= (n.2113+19A=) n.787+19A= c.637-29118A= (n.637-29118A=) | |
| 15 | g.48503768_48503769delinsAT | CA2580089546 | FBN1 | c.2113+18_2113+19delinsAT (n.2113+18_2113+19delinsAT) n.787+18_787+19delinsAT c.637-29119_637-29118delinsAT (n.637-29119_637-29118delinsAT) | ClinVar |
| 15 | g.48503769C= | CA2175526338 | FBN1 | c.2113+18G= (n.2113+18G=) n.787+18G= c.637-29119G= (n.637-29119G=) | |
| 15 | g.48503769C>T | CA046781 | FBN1 | c.2113+18G>A (n.2113+18G>A) n.787+18G>A c.637-29119G>A (n.637-29119G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503770T>C | CA713413603 | FBN1 | c.2113+17A>G (n.2113+17A>G) n.787+17A>G c.637-29120A>G (n.637-29120A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48503770T= | CA2175526339 | FBN1 | c.2113+17A= (n.2113+17A=) n.787+17A= c.637-29120A= (n.637-29120A=) | |
| 15 | g.48503771C>T | CA2628335752 | FBN1 | c.2113+16G>A (n.2113+16G>A) n.787+16G>A c.637-29121G>A (n.637-29121G>A) | gnomAD v4 |
| 15 | g.48503773A>G | CA2730867631 | FBN1 | c.2113+14T>C (n.2113+14T>C) n.787+14T>C c.637-29123T>C (n.637-29123T>C) | dbSNP |
| 15 | g.48503774T>C | CA046775 | FBN1 | c.2113+13A>G (n.2113+13A>G) n.787+13A>G c.637-29124A>G (n.637-29124A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503774T= | CA2175526341 | FBN1 | c.2113+13A= (n.2113+13A=) n.787+13A= c.637-29124A= (n.637-29124A=) | |
| 15 | g.48503775G>A | CA269548861 | FBN1 | c.2113+12C>T (n.2113+12C>T) n.787+12C>T c.637-29125C>T (n.637-29125C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48503775G= | CA2175526343 | FBN1 | c.2113+12C= (n.2113+12C=) n.787+12C= c.637-29125C= (n.637-29125C=) | |
| 15 | g.48503779C>A | CA2175526348 | FBN1 | c.2113+8G>T (n.2113+8G>T) n.787+8G>T c.637-29129G>T (n.637-29129G>T) | dbSNP gnomAD v4 |
| 15 | g.48503779C= | CA2175526346 | FBN1 | c.2113+8G= (n.2113+8G=) n.787+8G= c.637-29129G= (n.637-29129G=) | |
| 15 | g.48503779C>G | CA046851 | FBN1 | c.2113+8G>C (n.2113+8G>C) n.787+8G>C c.637-29129G>C (n.637-29129G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503779C>T | CA046844 | FBN1 | c.2113+8G>A (n.2113+8G>A) n.787+8G>A c.637-29129G>A (n.637-29129G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503780C>A | CA2628335761 | FBN1 | c.2113+7G>T (n.2113+7G>T) n.787+7G>T c.637-29130G>T (n.637-29130G>T) | gnomAD v4 |
| 15 | g.48503780C= | CA2175526351 | FBN1 | c.2113+7G= (n.2113+7G=) n.787+7G= c.637-29130G= (n.637-29130G=) | |
| 15 | g.48503780C>G | CA2175526353 | FBN1 | c.2113+7G>C (n.2113+7G>C) n.787+7G>C c.637-29130G>C (n.637-29130G>C) | dbSNP |
| 15 | g.48503780C>T | CA046835 | FBN1 | c.2113+7G>A (n.2113+7G>A) n.787+7G>A c.637-29130G>A (n.637-29130G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48503781A>G | CA2804072057 | FBN1 | c.2113+6T>C (n.2113+6T>C) n.787+6T>C c.637-29131T>C (n.637-29131T>C) | |
| 15 | g.48503781A>T | CA2730867647 | FBN1 | c.2113+6T>A (n.2113+6T>A) n.787+6T>A c.637-29131T>A (n.637-29131T>A) | dbSNP |
| 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 |