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.48503710G>A | CA2575717479 | FBN1 | c.2113+77C>T (n.2113+77C>T) n.787+77C>T c.637-29060C>T (n.637-29060C>T) | gnomAD v4 |
| 15 | g.48503710G>C | CA2175526299 | FBN1 | c.2113+77C>G (n.2113+77C>G) n.787+77C>G c.637-29060C>G (n.637-29060C>G) | dbSNP gnomAD v4 |
| 15 | g.48503710G= | CA2175526298 | FBN1 | c.2113+77C= (n.2113+77C=) n.787+77C= c.637-29060C= (n.637-29060C=) | |
| 15 | g.48503710G>T | CA617839080 | FBN1 | c.2113+77C>A (n.2113+77C>A) n.787+77C>A c.637-29060C>A (n.637-29060C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503711T>G | CA2575717480 | FBN1 | c.2113+76A>C (n.2113+76A>C) n.787+76A>C c.637-29061A>C (n.637-29061A>C) | gnomAD v4 |
| 15 | g.48503715T>G | CA2628335710 | FBN1 | c.2113+72A>C (n.2113+72A>C) n.787+72A>C c.637-29065A>C (n.637-29065A>C) | gnomAD v4 |
| 15 | g.48503717C>A | CA2628335711 | FBN1 | c.2113+70G>T (n.2113+70G>T) n.787+70G>T c.637-29067G>T (n.637-29067G>T) | gnomAD v4 |
| 15 | g.48503719A>C | CA2628335713 | FBN1 | c.2113+68T>G (n.2113+68T>G) n.787+68T>G c.637-29069T>G (n.637-29069T>G) | gnomAD v4 |
| 15 | g.48503720C>G | CA2628335714 | FBN1 | c.2113+67G>C (n.2113+67G>C) n.787+67G>C c.637-29070G>C (n.637-29070G>C) | gnomAD v4 |
| 15 | g.48503720C>T | CA2628335715 | FBN1 | c.2113+67G>A (n.2113+67G>A) n.787+67G>A c.637-29070G>A (n.637-29070G>A) | gnomAD v4 |
| 15 | g.48503724T>C | CA2628335716 | FBN1 | c.2113+63A>G (n.2113+63A>G) n.787+63A>G c.637-29074A>G (n.637-29074A>G) | gnomAD v4 |
| 15 | g.48503724T>G | CA2628335717 | FBN1 | c.2113+63A>C (n.2113+63A>C) n.787+63A>C c.637-29074A>C (n.637-29074A>C) | gnomAD v4 |
| 15 | g.48503726C>A | CA269548798 | FBN1 | c.2113+61G>T (n.2113+61G>T) n.787+61G>T c.637-29076G>T (n.637-29076G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503726C= | CA2175526300 | FBN1 | c.2113+61G= (n.2113+61G=) n.787+61G= c.637-29076G= (n.637-29076G=) | |
| 15 | g.48503726_48503727delinsCA | CA2175526301 | FBN1 | c.2113+60_2113+61delinsTG (n.2113+60_2113+61delinsTG) n.787+60_787+61delinsTG c.637-29077_637-29076delinsTG (n.637-29077_637-29076delinsTG) | |
| 15 | g.48503729del | CA2175526302 | FBN1 | c.2113+60del (n.2113+60del) n.787+60del c.637-29077del (n.637-29077del) | dbSNP gnomAD v4 |
| 15 | g.48503729A= | CA2175526304 | FBN1 | c.2113+58T= (n.2113+58T=) n.787+58T= c.637-29079T= (n.637-29079T=) | |
| 15 | g.48503729A>G | CA269548799 | FBN1 | c.2113+58T>C (n.2113+58T>C) n.787+58T>C c.637-29079T>C (n.637-29079T>C) | dbSNP |
| 15 | g.48503730G>C | CA2628335722 | FBN1 | c.2113+57C>G (n.2113+57C>G) n.787+57C>G c.637-29080C>G (n.637-29080C>G) | gnomAD v4 |
| 15 | g.48503730G>T | CA2575717481 | FBN1 | c.2113+57C>A (n.2113+57C>A) n.787+57C>A c.637-29080C>A (n.637-29080C>A) | |
| 15 | g.48503732C>A | CA2175526305 | FBN1 | c.2113+55G>T (n.2113+55G>T) n.787+55G>T c.637-29082G>T (n.637-29082G>T) | dbSNP gnomAD v4 |
| 15 | g.48503732C= | CA2175526306 | FBN1 | c.2113+55G= (n.2113+55G=) n.787+55G= c.637-29082G= (n.637-29082G=) | |
| 15 | g.48503732C>G | CA2628335724 | FBN1 | c.2113+55G>C (n.2113+55G>C) n.787+55G>C c.637-29082G>C (n.637-29082G>C) | gnomAD v4 |
| 15 | g.48503732C>T | CA269548800 | FBN1 | c.2113+55G>A (n.2113+55G>A) n.787+55G>A c.637-29082G>A (n.637-29082G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503733C>T | CA2628335732 | FBN1 | c.2113+54G>A (n.2113+54G>A) n.787+54G>A c.637-29083G>A (n.637-29083G>A) | gnomAD v4 |
| 15 | g.48503734T>A | CA2628335733 | FBN1 | c.2113+53A>T (n.2113+53A>T) n.787+53A>T c.637-29084A>T (n.637-29084A>T) | gnomAD v4 |
| 15 | g.48503735C>A | CA2538779130 | FBN1 | c.2113+52G>T (n.2113+52G>T) n.787+52G>T c.637-29085G>T (n.637-29085G>T) | |
| 15 | g.48503735C= | CA2175526307 | FBN1 | c.2113+52G= (n.2113+52G=) n.787+52G= c.637-29085G= (n.637-29085G=) | |
| 15 | g.48503735C>T | CA969562630 | FBN1 | c.2113+52G>A (n.2113+52G>A) n.787+52G>A c.637-29085G>A (n.637-29085G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 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) |