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.48497309_48497327del | CA2695220745 | FBN1 | c.2232_2250del (p.Thr745IlefsTer21) n.906_924del c.637-22677_637-22659del (n.637-22677_637-22659del) | |
| 15 | g.48497315_48497316delinsAC | CA2175521364 | FBN1 | c.2243_2244delinsGT (p.Cys748=) n.917_918delinsGT c.637-22666_637-22665delinsGT (n.637-22666_637-22665delinsGT) | |
| 15 | g.48497316del | CA658824469 | FBN1 | c.2243del (p.Cys748LeufsTer24) n.917del c.637-22666del (n.637-22666del) | ClinVar dbSNP |
| 15 | g.48497316C>A | CA392335689 | FBN1 | c.2243G>T (p.Cys748Phe) n.917G>T c.637-22666G>T (n.637-22666G>T) | |
| 15 | g.48497316C= | CA2175521367 | FBN1 | c.2243G= (p.Cys748=) n.917G= c.637-22666G= (n.637-22666G=) | |
| 15 | g.48497316C>G | CA392335690 | FBN1 | c.2243G>C (p.Cys748Ser) n.917G>C c.637-22666G>C (n.637-22666G>C) | |
| 15 | g.48497316C>T | CA16619969 | FBN1 | c.2243G>A (p.Cys748Tyr) n.917G>A c.637-22666G>A (n.637-22666G>A) | ClinVar dbSNP |
| 15 | g.48497317A= | CA2175521370 | FBN1 | c.2242T= (p.Cys748=) n.916T= c.637-22667T= (n.637-22667T=) | |
| 15 | g.48497317A>C | CA392335691 | FBN1 | c.2242T>G (p.Cys748Gly) n.916T>G c.637-22667T>G (n.637-22667T>G) | |
| 15 | g.48497317A>G | CA012895 | FBN1 | c.2242T>C (p.Cys748Arg) n.916T>C c.637-22667T>C (n.637-22667T>C) | ClinVar dbSNP |
| 15 | g.48497317A>T | CA392335692 | FBN1 | c.2242T>A (p.Cys748Ser) n.916T>A c.637-22667T>A (n.637-22667T>A) | |
| 15 | g.48497318T>A | CA392335694 | FBN1 | c.2241A>T (p.Lys747Asn) n.915A>T c.637-22668A>T (n.637-22668A>T) | |
| 15 | g.48497318T>C | CA269539871 | FBN1 | c.2241A>G (p.Lys747=) n.915A>G c.637-22668A>G (n.637-22668A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497318T>G | CA392335693 | FBN1 | c.2241A>C (p.Lys747Asn) n.915A>C c.637-22668A>C (n.637-22668A>C) | |
| 15 | g.48497318T= | CA2175521372 | FBN1 | c.2241A= (p.Lys747=) n.915A= c.637-22668A= (n.637-22668A=) | |
| 15 | g.48497318_48497319insATC | CA2567081409 | FBN1 | c.2240_2241insGAT (p.Lys747_Cys748insIle) n.914_915insGAT c.637-22669_637-22668insGAT (n.637-22669_637-22668insGAT) | |
| 15 | g.48497319T>A | CA392335695 | FBN1 | c.2240A>T (p.Lys747Ile) n.914A>T c.637-22669A>T (n.637-22669A>T) | |
| 15 | g.48497319T>C | CA392335696 | FBN1 | c.2240A>G (p.Lys747Arg) n.914A>G c.637-22669A>G (n.637-22669A>G) | |
| 15 | g.48497319T>G | CA392335697 | FBN1 | c.2240A>C (p.Lys747Thr) n.914A>C c.637-22669A>C (n.637-22669A>C) | |
| 15 | g.48497320T>A | CA392335698 | FBN1 | c.2239A>T (p.Lys747Ter) n.913A>T c.637-22670A>T (n.637-22670A>T) | |
| 15 | g.48497320T>C | CA392335699 | FBN1 | c.2239A>G (p.Lys747Glu) n.913A>G c.637-22670A>G (n.637-22670A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497320T>G | CA392335700 | FBN1 | c.2239A>C (p.Lys747Gln) n.913A>C c.637-22670A>C (n.637-22670A>C) | |
| 15 | g.48497320T= | CA2175521373 | FBN1 | c.2239A= (p.Lys747=) n.913A= c.637-22670A= (n.637-22670A=) | |
| 15 | g.48497320_48497321insTAGTAACAAA | CA2563036979 | FBN1 | c.2238_2239insTTTGTTACTA (p.Lys747PhefsTer12) n.912_913insTTTGTTACTA c.637-22671_637-22670insTTTGTTACTA (n.637-22671_637-22670insTTTGTTACTA) | |
| 15 | g.48497321A>C | CA392335702 | FBN1 | c.2238T>G (p.Tyr746Ter) n.912T>G c.637-22671T>G (n.637-22671T>G) | |
| 15 | g.48497321A>G | CA490023616 | FBN1 | c.2238T>C (p.Tyr746=) n.912T>C c.637-22671T>C (n.637-22671T>C) | gnomAD v4 |
| 15 | g.48497321A>T | CA392335701 | FBN1 | c.2238T>A (p.Tyr746Ter) n.912T>A c.637-22671T>A (n.637-22671T>A) | |
| 15 | g.48497322T>A | CA392335703 | FBN1 | c.2237A>T (p.Tyr746Phe) n.911A>T c.637-22672A>T (n.637-22672A>T) | |
| 15 | g.48497322T>C | CA16602231 | FBN1 | c.2237A>G (p.Tyr746Cys) n.911A>G c.637-22672A>G (n.637-22672A>G) | ClinVar dbSNP |
| 15 | g.48497322T>G | CA392335704 | FBN1 | c.2237A>C (p.Tyr746Ser) n.911A>C c.637-22672A>C (n.637-22672A>C) | |
| 15 | g.48497322T= | CA2175521374 | FBN1 | c.2237A= (p.Tyr746=) n.911A= c.637-22672A= (n.637-22672A=) | |
| 15 | g.48497323A>C | CA392335705 | FBN1 | c.2236T>G (p.Tyr746Asp) n.910T>G c.637-22673T>G (n.637-22673T>G) | |
| 15 | g.48497323A>G | CA392335706 | FBN1 | c.2236T>C (p.Tyr746His) n.910T>C c.637-22673T>C (n.637-22673T>C) | |
| 15 | g.48497323A>T | CA392335707 | FBN1 | c.2236T>A (p.Tyr746Asn) n.910T>A c.637-22673T>A (n.637-22673T>A) | |
| 15 | g.48497324G>A | CA490023617 | FBN1 | c.2235C>T (p.Thr745=) n.909C>T c.637-22674C>T (n.637-22674C>T) | |
| 15 | g.48497324G>C | CA490023618 | FBN1 | c.2235C>G (p.Thr745=) n.909C>G c.637-22674C>G (n.637-22674C>G) | ClinVar |
| 15 | g.48497324G>T | CA490023619 | FBN1 | c.2235C>A (p.Thr745=) n.909C>A c.637-22674C>A (n.637-22674C>A) | gnomAD v4 |
| 15 | g.48497324_48497327del | CA2695220748 | FBN1 | c.2232_2235del (p.Thr745IlefsTer26) n.906_909del c.637-22677_637-22674del (n.637-22677_637-22674del) | |
| 15 | g.48497324_48497336del | CA2695220747 | FBN1 | c.2223_2235del (p.Leu742IlefsTer26) n.897_909del c.637-22686_637-22674del (n.637-22686_637-22674del) | |
| 15 | g.48497325G>A | CA392335708 | FBN1 | c.2234C>T (p.Thr745Ile) n.908C>T c.637-22675C>T (n.637-22675C>T) | |
| 15 | g.48497325G>C | CA392335710 | FBN1 | c.2234C>G (p.Thr745Ser) n.908C>G c.637-22675C>G (n.637-22675C>G) | |
| 15 | g.48497325G>T | CA392335709 | FBN1 | c.2234C>A (p.Thr745Asn) n.908C>A c.637-22675C>A (n.637-22675C>A) | |
| 15 | g.48497326T>A | CA392335711 | FBN1 | c.2233A>T (p.Thr745Ser) n.907A>T c.637-22676A>T (n.637-22676A>T) | |
| 15 | g.48497326T>C | CA392335712 | FBN1 | c.2233A>G (p.Thr745Ala) n.907A>G c.637-22676A>G (n.637-22676A>G) | |
| 15 | g.48497326T>G | CA392335713 | FBN1 | c.2233A>C (p.Thr745Pro) n.907A>C c.637-22676A>C (n.637-22676A>C) | |
| 15 | g.48497327C>A | CA490023621 | FBN1 | c.2232G>T (p.Gly744=) n.906G>T c.637-22677G>T (n.637-22677G>T) | ClinVar dbSNP |
| 15 | g.48497327C= | CA2175521376 | FBN1 | c.2232G= (p.Gly744=) n.906G= c.637-22677G= (n.637-22677G=) | |
| 15 | g.48497327C>G | CA047229 | FBN1 | c.2232G>C (p.Gly744=) n.906G>C c.637-22677G>C (n.637-22677G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497327C>T | CA490023620 | FBN1 | c.2232G>A (p.Gly744=) n.906G>A c.637-22677G>A (n.637-22677G>A) | |
| 15 | g.48497328C>A | CA392335714 | FBN1 | c.2231G>T (p.Gly744Val) n.905G>T c.637-22678G>T (n.637-22678G>T) | |
| 15 | g.48497328C>G | CA392335715 | FBN1 | c.2231G>C (p.Gly744Ala) n.905G>C c.637-22678G>C (n.637-22678G>C) | |
| 15 | g.48497328C>T | CA392335716 | FBN1 | c.2231G>A (p.Gly744Glu) n.905G>A c.637-22678G>A (n.637-22678G>A) | |
| 15 | g.48497329C>A | CA392335717 | FBN1 | c.2230G>T (p.Gly744Trp) n.904G>T c.637-22679G>T (n.637-22679G>T) | |
| 15 | g.48497329C= | CA2175521377 | FBN1 | c.2230G= (p.Gly744=) n.904G= c.637-22679G= (n.637-22679G=) | |
| 15 | g.48497329C>G | CA392335718 | FBN1 | c.2230G>C (p.Gly744Arg) n.904G>C c.637-22679G>C (n.637-22679G>C) | |
| 15 | g.48497329C>T | CA392335719 | FBN1 | c.2230G>A (p.Gly744Arg) n.904G>A c.637-22679G>A (n.637-22679G>A) | dbSNP |
| 15 | g.48497330A>C | CA490023622 | FBN1 | c.2229T>G (p.Arg743=) n.903T>G c.637-22680T>G (n.637-22680T>G) | |
| 15 | g.48497330A>G | CA490023623 | FBN1 | c.2229T>C (p.Arg743=) n.903T>C c.637-22680T>C (n.637-22680T>C) | |
| 15 | g.48497330A>T | CA490023624 | FBN1 | c.2229T>A (p.Arg743=) n.903T>A c.637-22680T>A (n.637-22680T>A) | |
| 15 | g.48497331C>A | CA392335720 | FBN1 | c.2228G>T (p.Arg743Leu) n.902G>T c.637-22681G>T (n.637-22681G>T) | gnomAD v4 |
| 15 | g.48497331C= | CA2175521379 | FBN1 | c.2228G= (p.Arg743=) n.902G= c.637-22681G= (n.637-22681G=) | |
| 15 | g.48497331C>G | CA392335721 | FBN1 | c.2228G>C (p.Arg743Pro) n.902G>C c.637-22681G>C (n.637-22681G>C) | ClinVar |
| 15 | g.48497331C>T | CA047216 | FBN1 | c.2228G>A (p.Arg743His) n.902G>A c.637-22681G>A (n.637-22681G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48497331_48497332delinsCG | CA2175521381 | FBN1 | c.2227_2228delinsCG (p.Arg743=) n.901_902delinsCG c.637-22682_637-22681delinsCG (n.637-22682_637-22681delinsCG) | |
| 15 | g.48497332del | CA10587850 | FBN1 | c.2227del (p.Arg743ValfsTer29) n.901del c.637-22682del (n.637-22682del) | ClinVar dbSNP |
| 15 | g.48497332G>A | CA012886 | FBN1 | c.2227C>T (p.Arg743Cys) n.901C>T c.637-22682C>T (n.637-22682C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48497332G>C | CA392335722 | FBN1 | c.2227C>G (p.Arg743Gly) n.901C>G c.637-22682C>G (n.637-22682C>G) | |
| 15 | g.48497332G= | CA2175521384 | FBN1 | c.2227C= (p.Arg743=) n.901C= c.637-22682C= (n.637-22682C=) | |
| 15 | g.48497332G>T | CA392335723 | FBN1 | c.2227C>A (p.Arg743Ser) n.901C>A c.637-22682C>A (n.637-22682C>A) | |
| 15 | g.48497333A>C | CA490023627 | FBN1 | c.2226T>G (p.Leu742=) n.900T>G c.637-22683T>G (n.637-22683T>G) | |
| 15 | g.48497333A>G | CA490023625 | FBN1 | c.2226T>C (p.Leu742=) n.900T>C c.637-22683T>C (n.637-22683T>C) | |
| 15 | g.48497333A>T | CA490023626 | FBN1 | c.2226T>A (p.Leu742=) n.900T>A c.637-22683T>A (n.637-22683T>A) | |
| 15 | g.48497334A= | CA2175521387 | FBN1 | c.2225T= (p.Leu742=) n.899T= c.637-22684T= (n.637-22684T=) | |
| 15 | g.48497334A>C | CA392335724 | FBN1 | c.2225T>G (p.Leu742Arg) n.899T>G c.637-22684T>G (n.637-22684T>G) | |
| 15 | g.48497334A>G | CA392335725 | FBN1 | c.2225T>C (p.Leu742Pro) n.899T>C c.637-22684T>C (n.637-22684T>C) | ClinVar dbSNP |
| 15 | g.48497334A>T | CA392335726 | FBN1 | c.2225T>A (p.Leu742His) n.899T>A c.637-22684T>A (n.637-22684T>A) | |
| 15 | g.48497335G>A | CA392335727 | FBN1 | c.2224C>T (p.Leu742Phe) n.898C>T c.637-22685C>T (n.637-22685C>T) | |
| 15 | g.48497335G>C | CA392335728 | FBN1 | c.2224C>G (p.Leu742Val) n.898C>G c.637-22685C>G (n.637-22685C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497335G= | CA2175521389 | FBN1 | c.2224C= (p.Leu742=) n.898C= c.637-22685C= (n.637-22685C=) | |
| 15 | g.48497335G>T | CA392335729 | FBN1 | c.2224C>A (p.Leu742Ile) n.898C>A c.637-22685C>A (n.637-22685C>A) | gnomAD v4 |
| 15 | g.48497336G>A | CA490023628 | FBN1 | c.2223C>T (p.Asn741=) n.897C>T c.637-22686C>T (n.637-22686C>T) | |
| 15 | g.48497336G>C | CA392335730 | FBN1 | c.2223C>G (p.Asn741Lys) n.897C>G c.637-22686C>G (n.637-22686C>G) | |
| 15 | g.48497336G>T | CA392335731 | FBN1 | c.2223C>A (p.Asn741Lys) n.897C>A c.637-22686C>A (n.637-22686C>A) | ClinVar gnomAD v4 |
| 15 | g.48497336_48497337delinsAA | CA2695220749 | FBN1 | c.2222_2223delinsTT (p.Asn741Ile) n.896_897delinsTT c.637-22687_637-22686delinsTT (n.637-22687_637-22686delinsTT) | |
| 15 | g.48497337T>A | CA392335732 | FBN1 | c.2222A>T (p.Asn741Ile) n.896A>T c.637-22687A>T (n.637-22687A>T) | |
| 15 | g.48497337T>C | CA392335733 | FBN1 | c.2222A>G (p.Asn741Ser) n.896A>G c.637-22687A>G (n.637-22687A>G) | ClinVar |
| 15 | g.48497337T>G | CA392335734 | FBN1 | c.2222A>C (p.Asn741Thr) n.896A>C c.637-22687A>C (n.637-22687A>C) | |
| 15 | g.48497340del | CA2580089658 | FBN1 | c.2222del (p.Asn741ThrfsTer?) n.896del c.637-22687del (n.637-22687del) | ClinVar |
| 15 | g.48497338T>A | CA392335737 | FBN1 | c.2221A>T (p.Asn741Tyr) n.895A>T c.637-22688A>T (n.637-22688A>T) | |
| 15 | g.48497338T>C | CA392335735 | FBN1 | c.2221A>G (p.Asn741Asp) n.895A>G c.637-22688A>G (n.637-22688A>G) | |
| 15 | g.48497338T>G | CA392335736 | FBN1 | c.2221A>C (p.Asn741His) n.895A>C c.637-22688A>C (n.637-22688A>C) | |
| 15 | g.48497339T>A | CA392335738 | FBN1 | c.2220A>T (p.Glu740Asp) n.894A>T c.637-22689A>T (n.637-22689A>T) | |
| 15 | g.48497339T>C | CA490023630 | FBN1 | c.2220A>G (p.Glu740=) n.894A>G c.637-22689A>G (n.637-22689A>G) | |
| 15 | g.48497339T>G | CA392335739 | FBN1 | c.2220A>C (p.Glu740Asp) n.894A>C c.637-22689A>C (n.637-22689A>C) | |
| 15 | g.48497340T>A | CA392335740 | FBN1 | c.2219A>T (p.Glu740Val) n.893A>T c.637-22690A>T (n.637-22690A>T) | |
| 15 | g.48497340T>C | CA392335741 | FBN1 | c.2219A>G (p.Glu740Gly) n.893A>G c.637-22690A>G (n.637-22690A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497340T>G | CA392335742 | FBN1 | c.2219A>C (p.Glu740Ala) n.893A>C c.637-22690A>C (n.637-22690A>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497340T= | CA2175521392 | FBN1 | c.2219A= (p.Glu740=) n.893A= c.637-22690A= (n.637-22690A=) | |
| 15 | g.48497341C>A | CA392335743 | FBN1 | c.2218G>T (p.Glu740Ter) n.892G>T c.637-22691G>T (n.637-22691G>T) | |
| 15 | g.48497341C>G | CA392335744 | FBN1 | c.2218G>C (p.Glu740Gln) n.892G>C c.637-22691G>C (n.637-22691G>C) | |
| 15 | g.48497341C>T | CA392335745 | FBN1 | c.2218G>A (p.Glu740Lys) n.892G>A c.637-22691G>A (n.637-22691G>A) | |
| 15 | g.48497343_48497344del | CA2695220750 | FBN1 | c.2217_2218del (p.Cys739Ter) n.891_892del c.637-22692_637-22691del (n.637-22692_637-22691del) | |
| 15 | g.48497342A= | CA2175521394 | FBN1 | c.2217T= (p.Cys739=) n.891T= c.637-22692T= (n.637-22692T=) | |
| 15 | g.48497342A>C | CA392335746 | FBN1 | c.2217T>G (p.Cys739Trp) n.891T>G c.637-22692T>G (n.637-22692T>G) | ClinVar dbSNP |
| 15 | g.48497342A>G | CA269539914 | FBN1 | c.2217T>C (p.Cys739=) n.891T>C c.637-22692T>C (n.637-22692T>C) | dbSNP gnomAD v4 |
| 15 | g.48497342A>T | CA392335747 | FBN1 | c.2217T>A (p.Cys739Ter) n.891T>A c.637-22692T>A (n.637-22692T>A) | |
| 15 | g.48497343_48497346del | CA2580089660 | FBN1 | c.2214_2217del (p.Ile738MetfsTer?) n.888_891del c.637-22695_637-22692del (n.637-22695_637-22692del) | ClinVar |
| 15 | g.48497343C>A | CA392335748 | FBN1 | c.2216G>T (p.Cys739Phe) n.890G>T c.637-22693G>T (n.637-22693G>T) | |
| 15 | g.48497343C= | CA2175521396 | FBN1 | c.2216G= (p.Cys739=) n.890G= c.637-22693G= (n.637-22693G=) | |
| 15 | g.48497343C>G | CA392335749 | FBN1 | c.2216G>C (p.Cys739Ser) n.890G>C c.637-22693G>C (n.637-22693G>C) | |
| 15 | g.48497343C>T | CA392335750 | FBN1 | c.2216G>A (p.Cys739Tyr) n.890G>A c.637-22693G>A (n.637-22693G>A) | ClinVar dbSNP |
| 15 | g.48497344A>C | CA392335751 | FBN1 | c.2215T>G (p.Cys739Gly) n.889T>G c.637-22694T>G (n.637-22694T>G) | |
| 15 | g.48497344A>G | CA392335752 | FBN1 | c.2215T>C (p.Cys739Arg) n.889T>C c.637-22694T>C (n.637-22694T>C) | |
| 15 | g.48497344A>T | CA392335753 | FBN1 | c.2215T>A (p.Cys739Ser) n.889T>A c.637-22694T>A (n.637-22694T>A) | |
| 15 | g.48497345G>A | CA490023631 | FBN1 | c.2214C>T (p.Ile738=) n.888C>T c.637-22695C>T (n.637-22695C>T) | ClinVar dbSNP |
| 15 | g.48497345G>C | CA392335754 | FBN1 | c.2214C>G (p.Ile738Met) n.888C>G c.637-22695C>G (n.637-22695C>G) | |
| 15 | g.48497345G= | CA2175521397 | FBN1 | c.2214C= (p.Ile738=) n.888C= c.637-22695C= (n.637-22695C=) | |
| 15 | g.48497345G>T | CA490023632 | FBN1 | c.2214C>A (p.Ile738=) n.888C>A c.637-22695C>A (n.637-22695C>A) | gnomAD v4 |
| 15 | g.48497346A>C | CA392335755 | FBN1 | c.2213T>G (p.Ile738Ser) n.887T>G c.637-22696T>G (n.637-22696T>G) | |
| 15 | g.48497346A>G | CA392335756 | FBN1 | c.2213T>C (p.Ile738Thr) n.887T>C c.637-22696T>C (n.637-22696T>C) | |
| 15 | g.48497346A>T | CA392335757 | FBN1 | c.2213T>A (p.Ile738Asn) n.887T>A c.637-22696T>A (n.637-22696T>A) | |
| 15 | g.48497346dup | CA16614441 | FBN1 | c.2213dup (p.Cys739LeufsTer2) n.887dup c.637-22696dup (n.637-22696dup) | ClinVar dbSNP |
| 15 | g.48497347T>A | CA392335758 | FBN1 | c.2212A>T (p.Ile738Phe) n.886A>T c.637-22697A>T (n.637-22697A>T) | |
| 15 | g.48497347T>C | CA392335759 | FBN1 | c.2212A>G (p.Ile738Val) n.886A>G c.637-22697A>G (n.637-22697A>G) | |
| 15 | g.48497347T>G | CA392335760 | FBN1 | c.2212A>C (p.Ile738Leu) n.886A>C c.637-22697A>C (n.637-22697A>C) | |
| 15 | g.48497348T>A | CA490023633 | FBN1 | c.2211A>T (p.Gly737=) n.885A>T c.637-22698A>T (n.637-22698A>T) | |
| 15 | g.48497348T>C | CA490023634 | FBN1 | c.2211A>G (p.Gly737=) n.885A>G c.637-22698A>G (n.637-22698A>G) | |
| 15 | g.48497348T>G | CA490023635 | FBN1 | c.2211A>C (p.Gly737=) n.885A>C c.637-22698A>C (n.637-22698A>C) | |
| 15 | g.48497349C>A | CA392335761 | FBN1 | c.2210G>T (p.Gly737Val) n.884G>T c.637-22699G>T (n.637-22699G>T) | |
| 15 | g.48497349C>G | CA392335762 | FBN1 | c.2210G>C (p.Gly737Ala) n.884G>C c.637-22699G>C (n.637-22699G>C) | |
| 15 | g.48497349C>T | CA392335763 | FBN1 | c.2210G>A (p.Gly737Glu) n.884G>A c.637-22699G>A (n.637-22699G>A) | |
| 15 | g.48497350C>A | CA392335764 | FBN1 | c.2209G>T (p.Gly737Ter) n.883G>T c.637-22700G>T (n.637-22700G>T) | |
| 15 | g.48497350C= | CA2175521401 | FBN1 | c.2209G= (p.Gly737=) n.883G= c.637-22700G= (n.637-22700G=) | |
| 15 | g.48497350C>G | CA392335765 | FBN1 | c.2209G>C (p.Gly737Arg) n.883G>C c.637-22700G>C (n.637-22700G>C) | |
| 15 | g.48497350C>T | CA392335766 | FBN1 | c.2209G>A (p.Gly737Arg) n.883G>A c.637-22700G>A (n.637-22700G>A) | ClinVar dbSNP |
| 15 | g.48497351A= | CA2175521402 | FBN1 | c.2208T= (p.Asn736=) n.882T= c.637-22701T= (n.637-22701T=) | |
| 15 | g.48497351A>C | CA392335767 | FBN1 | c.2208T>G (p.Asn736Lys) n.882T>G c.637-22701T>G (n.637-22701T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497351A>G | CA490023636 | FBN1 | c.2208T>C (p.Asn736=) n.882T>C c.637-22701T>C (n.637-22701T>C) | gnomAD v4 |
| 15 | g.48497351A>T | CA392335768 | FBN1 | c.2208T>A (p.Asn736Lys) n.882T>A c.637-22701T>A (n.637-22701T>A) | gnomAD v4 |
| 15 | g.48497352T>A | CA392335769 | FBN1 | c.2207A>T (p.Asn736Ile) n.881A>T c.637-22702A>T (n.637-22702A>T) | dbSNP |
| 15 | g.48497352T>C | CA392335771 | FBN1 | c.2207A>G (p.Asn736Ser) n.881A>G c.637-22702A>G (n.637-22702A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497352T>G | CA392335770 | FBN1 | c.2207A>C (p.Asn736Thr) n.881A>C c.637-22702A>C (n.637-22702A>C) | |
| 15 | g.48497352T= | CA2175521404 | FBN1 | c.2207A= (p.Asn736=) n.881A= c.637-22702A= (n.637-22702A=) | |
| 15 | g.48497353T>A | CA392335772 | FBN1 | c.2206A>T (p.Asn736Tyr) n.880A>T c.637-22703A>T (n.637-22703A>T) | |
| 15 | g.48497353T>C | CA10583250 | FBN1 | c.2206A>G (p.Asn736Asp) n.880A>G c.637-22703A>G (n.637-22703A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497353T>G | CA392335773 | FBN1 | c.2206A>C (p.Asn736His) n.880A>C c.637-22703A>C (n.637-22703A>C) | |
| 15 | g.48497353T= | CA2175521406 | FBN1 | c.2206A= (p.Asn736=) n.880A= c.637-22703A= (n.637-22703A=) | |
| 15 | g.48497354T>A | CA490023637 | FBN1 | c.2205A>T (p.Pro735=) n.879A>T c.637-22704A>T (n.637-22704A>T) | |
| 15 | g.48497354T>C | CA047204 | FBN1 | c.2205A>G (p.Pro735=) n.879A>G c.637-22704A>G (n.637-22704A>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48497354T>G | CA490023638 | FBN1 | c.2205A>C (p.Pro735=) n.879A>C c.637-22704A>C (n.637-22704A>C) | |
| 15 | g.48497354T= | CA2175521409 | FBN1 | c.2205A= (p.Pro735=) n.879A= c.637-22704A= (n.637-22704A=) | |
| 15 | g.48497355G>A | CA392335774 | FBN1 | c.2204C>T (p.Pro735Leu) n.878C>T c.637-22705C>T (n.637-22705C>T) | |
| 15 | g.48497355G>C | CA392335775 | FBN1 | c.2204C>G (p.Pro735Arg) n.878C>G c.637-22705C>G (n.637-22705C>G) | ClinVar gnomAD v4 |
| 15 | g.48497355G>T | CA392335776 | FBN1 | c.2204C>A (p.Pro735Gln) n.878C>A c.637-22705C>A (n.637-22705C>A) | gnomAD v4 |
| 15 | g.48497356G>A | CA392335777 | FBN1 | c.2203C>T (p.Pro735Ser) n.877C>T c.637-22706C>T (n.637-22706C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48497356G>C | CA392335778 | FBN1 | c.2203C>G (p.Pro735Ala) n.877C>G c.637-22706C>G (n.637-22706C>G) | |
| 15 | g.48497356G= | CA2175521411 | FBN1 | c.2203C= (p.Pro735=) n.877C= c.637-22706C= (n.637-22706C=) | |
| 15 | g.48497356G>T | CA392335779 | FBN1 | c.2203C>A (p.Pro735Thr) n.877C>A c.637-22706C>A (n.637-22706C>A) | |
| 15 | g.48497357G>A | CA490023639 | FBN1 | c.2202C>T (p.Cys734=) n.876C>T c.637-22707C>T (n.637-22707C>T) | |
| 15 | g.48497357G>C | CA392335780 | FBN1 | c.2202C>G (p.Cys734Trp) n.876C>G c.637-22707C>G (n.637-22707C>G) | |
| 15 | g.48497357G>T | CA392335781 | FBN1 | c.2202C>A (p.Cys734Ter) n.876C>A c.637-22707C>A (n.637-22707C>A) | |
| 15 | g.48497358C>A | CA012879 | FBN1 | c.2201G>T (p.Cys734Phe) n.875G>T c.637-22708G>T (n.637-22708G>T) | ClinVar dbSNP |
| 15 | g.48497358C= | CA2175521412 | FBN1 | c.2201G= (p.Cys734=) n.875G= c.637-22708G= (n.637-22708G=) | |
| 15 | g.48497358C>G | CA392335782 | FBN1 | c.2201G>C (p.Cys734Ser) n.875G>C c.637-22708G>C (n.637-22708G>C) | ClinVar dbSNP |
| 15 | g.48497358C>T | CA10587853 | FBN1 | c.2201G>A (p.Cys734Tyr) n.875G>A c.637-22708G>A (n.637-22708G>A) | ClinVar dbSNP |
| 15 | g.48497359A>C | CA392335783 | FBN1 | c.2200T>G (p.Cys734Gly) n.874T>G c.637-22709T>G (n.637-22709T>G) | |
| 15 | g.48497359A>G | CA392335784 | FBN1 | c.2200T>C (p.Cys734Arg) n.874T>C c.637-22709T>C (n.637-22709T>C) | ClinVar dbSNP |
| 15 | g.48497359A>T | CA392335785 | FBN1 | c.2200T>A (p.Cys734Ser) n.874T>A c.637-22709T>A (n.637-22709T>A) | ClinVar |
| 15 | g.48497360A>C | CA392335786 | FBN1 | c.2199T>G (p.Ile733Met) n.873T>G c.637-22710T>G (n.637-22710T>G) | |
| 15 | g.48497360A>G | CA490023640 | FBN1 | c.2199T>C (p.Ile733=) n.873T>C c.637-22710T>C (n.637-22710T>C) | |
| 15 | g.48497360A>T | CA490023641 | FBN1 | c.2199T>A (p.Ile733=) n.873T>A c.637-22710T>A (n.637-22710T>A) | |
| 15 | g.48497361A>C | CA392335787 | FBN1 | c.2198T>G (p.Ile733Ser) n.872T>G c.637-22711T>G (n.637-22711T>G) | |
| 15 | g.48497361A>G | CA392335788 | FBN1 | c.2198T>C (p.Ile733Thr) n.872T>C c.637-22711T>C (n.637-22711T>C) | |
| 15 | g.48497361A>T | CA392335790 | FBN1 | c.2198T>A (p.Ile733Asn) n.872T>A c.637-22711T>A (n.637-22711T>A) | |
| 15 | g.48497362T>A | CA392335793 | FBN1 | c.2197A>T (p.Ile733Phe) n.871A>T c.637-22712A>T (n.637-22712A>T) | |
| 15 | g.48497362T>C | CA047185 | FBN1 | c.2197A>G (p.Ile733Val) n.871A>G c.637-22712A>G (n.637-22712A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497362T>G | CA392335796 | FBN1 | c.2197A>C (p.Ile733Leu) n.871A>C c.637-22712A>C (n.637-22712A>C) | |
| 15 | g.48497362T= | CA2175521416 | FBN1 | c.2197A= (p.Ile733=) n.871A= c.637-22712A= (n.637-22712A=) | |
| 15 | g.48497363A= | CA2175521418 | FBN1 | c.2196T= (p.Asp732=) n.870T= c.637-22713T= (n.637-22713T=) | |
| 15 | g.48497363A>C | CA392335798 | FBN1 | c.2196T>G (p.Asp732Glu) n.870T>G c.637-22713T>G (n.637-22713T>G) | |
| 15 | g.48497363A>G | CA269539942 | FBN1 | c.2196T>C (p.Asp732=) n.870T>C c.637-22713T>C (n.637-22713T>C) | dbSNP |
| 15 | g.48497363A>T | CA392335800 | FBN1 | c.2196T>A (p.Asp732Glu) n.870T>A c.637-22713T>A (n.637-22713T>A) | |
| 15 | g.48497364T>A | CA392335802 | FBN1 | c.2195A>T (p.Asp732Val) n.869A>T c.637-22714A>T (n.637-22714A>T) | |
| 15 | g.48497364T>C | CA392335806 | FBN1 | c.2195A>G (p.Asp732Gly) n.869A>G c.637-22714A>G (n.637-22714A>G) | |
| 15 | g.48497364T>G | CA392335804 | FBN1 | c.2195A>C (p.Asp732Ala) n.869A>C c.637-22714A>C (n.637-22714A>C) | |
| 15 | g.48497365C>A | CA392335809 | FBN1 | c.2194G>T (p.Asp732Tyr) n.868G>T c.637-22715G>T (n.637-22715G>T) | |
| 15 | g.48497365C>G | CA392335813 | FBN1 | c.2194G>C (p.Asp732His) n.868G>C c.637-22715G>C (n.637-22715G>C) | |
| 15 | g.48497365C>T | CA392335811 | FBN1 | c.2194G>A (p.Asp732Asn) n.868G>A c.637-22715G>A (n.637-22715G>A) | |
| 15 | g.48497366A>C | CA490023642 | FBN1 | c.2193T>G (p.Pro731=) n.867T>G c.637-22716T>G (n.637-22716T>G) | dbSNP |
| 15 | g.48497366A>G | CA490023643 | FBN1 | c.2193T>C (p.Pro731=) n.867T>C c.637-22716T>C (n.637-22716T>C) | COSMIC |
| 15 | g.48497366A>T | CA490023644 | FBN1 | c.2193T>A (p.Pro731=) n.867T>A c.637-22716T>A (n.637-22716T>A) | |
| 15 | g.48497367G>A | CA392335815 | FBN1 | c.2192C>T (p.Pro731Leu) n.866C>T c.637-22717C>T (n.637-22717C>T) | |
| 15 | g.48497367G>C | CA269539943 | FBN1 | c.2192C>G (p.Pro731Arg) n.866C>G c.637-22717C>G (n.637-22717C>G) | dbSNP |
| 15 | g.48497367G= | CA2175521420 | FBN1 | c.2192C= (p.Pro731=) n.866C= c.637-22717C= (n.637-22717C=) | |
| 15 | g.48497367G>T | CA392335817 | FBN1 | c.2192C>A (p.Pro731His) n.866C>A c.637-22717C>A (n.637-22717C>A) | |
| 15 | g.48497368del | CA2695220751 | FBN1 | c.2192del (p.Pro731LeufsTer?) n.866del c.637-22717del (n.637-22717del) | |
| 15 | g.48497367_48497386dup | CA2499223006 | FBN1 | c.2173_2192dup (p.Asp732MetfsTer5) n.847_866dup c.637-22736_637-22717dup (n.637-22736_637-22717dup) | ClinVar dbSNP |
| 15 | g.48497368G>A | CA392335819 | FBN1 | c.2191C>T (p.Pro731Ser) n.865C>T c.637-22718C>T (n.637-22718C>T) | |
| 15 | g.48497368G>C | CA392335821 | FBN1 | c.2191C>G (p.Pro731Ala) n.865C>G c.637-22718C>G (n.637-22718C>G) | ClinVar gnomAD v4 |
| 15 | g.48497368G>T | CA392335823 | FBN1 | c.2191C>A (p.Pro731Thr) n.865C>A c.637-22718C>A (n.637-22718C>A) | gnomAD v4 |
| 15 | g.48497369A= | CA2175521421 | FBN1 | c.2190T= (p.Asp730=) n.864T= c.637-22719T= (n.637-22719T=) | |
| 15 | g.48497369A>C | CA392335826 | FBN1 | c.2190T>G (p.Asp730Glu) n.864T>G c.637-22719T>G (n.637-22719T>G) | |
| 15 | g.48497369A>G | CA490023645 | FBN1 | c.2190T>C (p.Asp730=) n.864T>C c.637-22719T>C (n.637-22719T>C) | dbSNP |
| 15 | g.48497369A>T | CA392335828 | FBN1 | c.2190T>A (p.Asp730Glu) n.864T>A c.637-22719T>A (n.637-22719T>A) | gnomAD v4 |
| 15 | g.48497370T>A | CA392335829 | FBN1 | c.2189A>T (p.Asp730Val) n.863A>T c.637-22720A>T (n.637-22720A>T) | |
| 15 | g.48497370T>C | CA392335832 | FBN1 | c.2189A>G (p.Asp730Gly) n.863A>G c.637-22720A>G (n.637-22720A>G) | |
| 15 | g.48497370T>G | CA392335834 | FBN1 | c.2189A>C (p.Asp730Ala) n.863A>C c.637-22720A>C (n.637-22720A>C) | |
| 15 | g.48497371C>A | CA392335837 | FBN1 | c.2188G>T (p.Asp730Tyr) n.862G>T c.637-22721G>T (n.637-22721G>T) | |
| 15 | g.48497371C= | CA2175521423 | FBN1 | c.2188G= (p.Asp730=) n.862G= c.637-22721G= (n.637-22721G=) | |
| 15 | g.48497371C>G | CA392335839 | FBN1 | c.2188G>C (p.Asp730His) n.862G>C c.637-22721G>C (n.637-22721G>C) | |
| 15 | g.48497371C>T | CA012868 | FBN1 | c.2188G>A (p.Asp730Asn) n.862G>A c.637-22721G>A (n.637-22721G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497372T>A | CA490023646 | FBN1 | c.2187A>T (p.Leu729=) n.861A>T c.637-22722A>T (n.637-22722A>T) | |
| 15 | g.48497372T>C | CA047179 | FBN1 | c.2187A>G (p.Leu729=) n.861A>G c.637-22722A>G (n.637-22722A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497372T>G | CA047171 | FBN1 | c.2187A>C (p.Leu729=) n.861A>C c.637-22722A>C (n.637-22722A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497372T= | CA2175521425 | FBN1 | c.2187A= (p.Leu729=) n.861A= c.637-22722A= (n.637-22722A=) | |
| 15 | g.48497372_48497373delinsTA | CA2175521426 | FBN1 | c.2186_2187delinsTA (p.Leu729=) n.860_861delinsTA c.637-22723_637-22722delinsTA (n.637-22723_637-22722delinsTA) | |
| 15 | g.48497373del | CA012860 | FBN1 | c.2186del (p.Leu729GlnfsTer?) n.860del c.637-22723del (n.637-22723del) | ClinVar dbSNP |
| 15 | g.48497373A= | CA2581198466 | FBN1 | c.2186T= (p.Leu729=) n.860T= c.637-22723T= (n.637-22723T=) | |
| 15 | g.48497373A>C | CA392335845 | FBN1 | c.2186T>G (p.Leu729Arg) n.860T>G c.637-22723T>G (n.637-22723T>G) | |
| 15 | g.48497373A>G | CA392335847 | FBN1 | c.2186T>C (p.Leu729Pro) n.860T>C c.637-22723T>C (n.637-22723T>C) | |
| 15 | g.48497373A>T | CA392335849 | FBN1 | c.2186T>A (p.Leu729Gln) n.860T>A c.637-22723T>A (n.637-22723T>A) | |
| 15 | g.48497374G>A | CA490023647 | FBN1 | c.2185C>T (p.Leu729=) n.859C>T c.637-22724C>T (n.637-22724C>T) | |
| 15 | g.48497374G>C | CA392335853 | FBN1 | c.2185C>G (p.Leu729Val) n.859C>G c.637-22724C>G (n.637-22724C>G) | |
| 15 | g.48497374G>T | CA392335855 | FBN1 | c.2185C>A (p.Leu729Ile) n.859C>A c.637-22724C>A (n.637-22724C>A) | |
| 15 | g.48497375T>A | CA490023648 | FBN1 | c.2184A>T (p.Ala728=) n.858A>T c.637-22725A>T (n.637-22725A>T) | |
| 15 | g.48497375T>C | CA490023649 | FBN1 | c.2184A>G (p.Ala728=) n.858A>G c.637-22725A>G (n.637-22725A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497375T>G | CA490023650 | FBN1 | c.2184A>C (p.Ala728=) n.858A>C c.637-22725A>C (n.637-22725A>C) | |
| 15 | g.48497375T= | CA2175521428 | FBN1 | c.2184A= (p.Ala728=) n.858A= c.637-22725A= (n.637-22725A=) | |
| 15 | g.48497376G>A | CA392335858 | FBN1 | c.2183C>T (p.Ala728Val) n.857C>T c.637-22726C>T (n.637-22726C>T) | |
| 15 | g.48497376G>C | CA392335860 | FBN1 | c.2183C>G (p.Ala728Gly) n.857C>G c.637-22726C>G (n.637-22726C>G) | |
| 15 | g.48497376G>T | CA392335862 | FBN1 | c.2183C>A (p.Ala728Glu) n.857C>A c.637-22726C>A (n.637-22726C>A) | |
| 15 | g.48497377C>A | CA269539971 | FBN1 | c.2182G>T (p.Ala728Ser) n.856G>T c.637-22727G>T (n.637-22727G>T) | dbSNP gnomAD v4 |
| 15 | g.48497377C= | CA2175521429 | FBN1 | c.2182G= (p.Ala728=) n.856G= c.637-22727G= (n.637-22727G=) | |
| 15 | g.48497377C>G | CA392335866 | FBN1 | c.2182G>C (p.Ala728Pro) n.856G>C c.637-22727G>C (n.637-22727G>C) | |
| 15 | g.48497377C>T | CA392335868 | FBN1 | c.2182G>A (p.Ala728Thr) n.856G>A c.637-22727G>A (n.637-22727G>A) | |
| 15 | g.48497378A= | CA2175521430 | FBN1 | c.2181T= (p.Cys727=) n.855T= c.637-22728T= (n.637-22728T=) | |
| 15 | g.48497378A>C | CA392335872 | FBN1 | c.2181T>G (p.Cys727Trp) n.855T>G c.637-22728T>G (n.637-22728T>G) | |
| 15 | g.48497378A>G | CA490023651 | FBN1 | c.2181T>C (p.Cys727=) n.855T>C c.637-22728T>C (n.637-22728T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497378A>T | CA392335874 | FBN1 | c.2181T>A (p.Cys727Ter) n.855T>A c.637-22728T>A (n.637-22728T>A) | |
| 15 | g.48497379C>A | CA392335878 | FBN1 | c.2180G>T (p.Cys727Phe) n.854G>T c.637-22729G>T (n.637-22729G>T) | |
| 15 | g.48497379C= | CA2175521432 | FBN1 | c.2180G= (p.Cys727=) n.854G= c.637-22729G= (n.637-22729G=) | |
| 15 | g.48497379C>G | CA392335880 | FBN1 | c.2180G>C (p.Cys727Ser) n.854G>C c.637-22729G>C (n.637-22729G>C) | |
| 15 | g.48497379C>T | CA012850 | FBN1 | c.2180G>A (p.Cys727Tyr) n.854G>A c.637-22729G>A (n.637-22729G>A) | ClinVar dbSNP |
| 15 | g.48497379dup | CA304344 | FBN1 | c.2180dup (p.Cys727TrpfsTer6) n.854dup c.637-22729dup (n.637-22729dup) | ClinVar dbSNP |
| 15 | g.48497380A= | CA2175521434 | FBN1 | c.2179T= (p.Cys727=) n.853T= c.637-22730T= (n.637-22730T=) | |
| 15 | g.48497380A>C | CA392335884 | FBN1 | c.2179T>G (p.Cys727Gly) n.853T>G c.637-22730T>G (n.637-22730T>G) | ClinVar dbSNP |
| 15 | g.48497380A>G | CA16619970 | FBN1 | c.2179T>C (p.Cys727Arg) n.853T>C c.637-22730T>C (n.637-22730T>C) | ClinVar dbSNP |
| 15 | g.48497380A>T | CA392335887 | FBN1 | c.2179T>A (p.Cys727Ser) n.853T>A c.637-22730T>A (n.637-22730T>A) | ClinVar dbSNP |
| 15 | g.48497381T>A | CA392335889 | FBN1 | c.2178A>T (p.Glu726Asp) n.852A>T c.637-22731A>T (n.637-22731A>T) | |
| 15 | g.48497381T>C | CA490023652 | FBN1 | c.2178A>G (p.Glu726=) n.852A>G c.637-22731A>G (n.637-22731A>G) | |
| 15 | g.48497381T>G | CA392335891 | FBN1 | c.2178A>C (p.Glu726Asp) n.852A>C c.637-22731A>C (n.637-22731A>C) | |
| 15 | g.48497382T>A | CA392335895 | FBN1 | c.2177A>T (p.Glu726Val) n.851A>T c.637-22732A>T (n.637-22732A>T) | |
| 15 | g.48497382T>C | CA392335897 | FBN1 | c.2177A>G (p.Glu726Gly) n.851A>G c.637-22732A>G (n.637-22732A>G) | ClinVar |
| 15 | g.48497382T>G | CA392335899 | FBN1 | c.2177A>C (p.Glu726Ala) n.851A>C c.637-22732A>C (n.637-22732A>C) | |
| 15 | g.48497382_48497383delinsTC | CA2175521436 | FBN1 | c.2176_2177delinsGA (p.Glu726=) n.850_851delinsGA c.637-22733_637-22732delinsGA (n.637-22733_637-22732delinsGA) | |
| 15 | g.48497383del | CA658824470 | FBN1 | c.2176del (p.Glu726AsnfsTer4) n.850del c.637-22733del (n.637-22733del) | ClinVar dbSNP |
| 15 | g.48497383C>A | CA392335904 | FBN1 | c.2176G>T (p.Glu726Ter) n.850G>T c.637-22733G>T (n.637-22733G>T) | |
| 15 | g.48497383C>G | CA392335906 | FBN1 | c.2176G>C (p.Glu726Gln) n.850G>C c.637-22733G>C (n.637-22733G>C) | ClinVar dbSNP |
| 15 | g.48497383C>T | CA392335901 | FBN1 | c.2176G>A (p.Glu726Lys) n.850G>A c.637-22733G>A (n.637-22733G>A) | |
| 15 | g.48497384A= | CA2175521438 | FBN1 | c.2175T= (p.Asn725=) n.849T= c.637-22734T= (n.637-22734T=) | |
| 15 | g.48497384A>C | CA392335909 | FBN1 | c.2175T>G (p.Asn725Lys) n.849T>G c.637-22734T>G (n.637-22734T>G) | |
| 15 | g.48497384A>G | CA012841 | FBN1 | c.2175T>C (p.Asn725=) n.849T>C c.637-22734T>C (n.637-22734T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497384A>T | CA392335912 | FBN1 | c.2175T>A (p.Asn725Lys) n.849T>A c.637-22734T>A (n.637-22734T>A) | |
| 15 | g.48497385T>A | CA392335914 | FBN1 | c.2174A>T (p.Asn725Ile) n.848A>T c.637-22735A>T (n.637-22735A>T) | |
| 15 | g.48497385T>C | CA392335916 | FBN1 | c.2174A>G (p.Asn725Ser) n.848A>G c.637-22735A>G (n.637-22735A>G) | dbSNP |
| 15 | g.48497385T>G | CA392335918 | FBN1 | c.2174A>C (p.Asn725Thr) n.848A>C c.637-22735A>C (n.637-22735A>C) | |
| 15 | g.48497385T= | CA2175521440 | FBN1 | c.2174A= (p.Asn725=) n.848A= c.637-22735A= (n.637-22735A=) | |
| 15 | g.48497386T>A | CA392335921 | FBN1 | c.2173A>T (p.Asn725Tyr) n.847A>T c.637-22736A>T (n.637-22736A>T) | |
| 15 | g.48497386T>C | CA392335925 | FBN1 | c.2173A>G (p.Asn725Asp) n.847A>G c.637-22736A>G (n.637-22736A>G) | |
| 15 | g.48497386T>G | CA392335923 | FBN1 | c.2173A>C (p.Asn725His) n.847A>C c.637-22736A>C (n.637-22736A>C) | |
| 15 | g.48497387T>A | CA490023654 | FBN1 | c.2172A>T (p.Ile724=) n.846A>T c.637-22737A>T (n.637-22737A>T) | |
| 15 | g.48497387T>C | CA392335927 | FBN1 | c.2172A>G (p.Ile724Met) n.846A>G c.637-22737A>G (n.637-22737A>G) | |
| 15 | g.48497387T>G | CA490023655 | FBN1 | c.2172A>C (p.Ile724=) n.846A>C c.637-22737A>C (n.637-22737A>C) | |
| 15 | g.48497388A= | CA2175521441 | FBN1 | c.2171T= (p.Ile724=) n.845T= c.637-22738T= (n.637-22738T=) | |
| 15 | g.48497388A>C | CA392335930 | FBN1 | c.2171T>G (p.Ile724Arg) n.845T>G c.637-22738T>G (n.637-22738T>G) | |
| 15 | g.48497388A>G | CA10583251 | FBN1 | c.2171T>C (p.Ile724Thr) n.845T>C c.637-22738T>C (n.637-22738T>C) | ClinVar dbSNP |
| 15 | g.48497388A>T | CA392335933 | FBN1 | c.2171T>A (p.Ile724Lys) n.845T>A c.637-22738T>A (n.637-22738T>A) | ClinVar |
| 15 | g.48497389T>A | CA392335936 | FBN1 | c.2170A>T (p.Ile724Leu) n.844A>T c.637-22739A>T (n.637-22739A>T) | |
| 15 | g.48497389T>C | CA047152 | FBN1 | c.2170A>G (p.Ile724Val) n.844A>G c.637-22739A>G (n.637-22739A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497389T>G | CA392335938 | FBN1 | c.2170A>C (p.Ile724Leu) n.844A>C c.637-22739A>C (n.637-22739A>C) | |
| 15 | g.48497389T= | CA2175521443 | FBN1 | c.2170A= (p.Ile724=) n.844A= c.637-22739A= (n.637-22739A=) | |
| 15 | g.48497390A>C | CA392335941 | FBN1 | c.2169T>G (p.Asp723Glu) n.843T>G c.637-22740T>G (n.637-22740T>G) | |
| 15 | g.48497390A>G | CA490023656 | FBN1 | c.2169T>C (p.Asp723=) n.843T>C c.637-22740T>C (n.637-22740T>C) | |
| 15 | g.48497390A>T | CA392335943 | FBN1 | c.2169T>A (p.Asp723Glu) n.843T>A c.637-22740T>A (n.637-22740T>A) | |
| 15 | g.48497391T>A | CA392335946 | FBN1 | c.2168A>T (p.Asp723Val) n.842A>T c.637-22741A>T (n.637-22741A>T) | |
| 15 | g.48497391T>C | CA392335948 | FBN1 | c.2168A>G (p.Asp723Gly) n.842A>G c.637-22741A>G (n.637-22741A>G) | ClinVar dbSNP |
| 15 | g.48497391T>G | CA012833 | FBN1 | c.2168A>C (p.Asp723Ala) n.842A>C c.637-22741A>C (n.637-22741A>C) | ClinVar dbSNP |
| 15 | g.48497391T= | CA2175521445 | FBN1 | c.2168A= (p.Asp723=) n.842A= c.637-22741A= (n.637-22741A=) | |
| 15 | g.48497392C>A | CA392335952 | FBN1 | c.2168-1G>T (n.2168-1G>T) n.842-1G>T c.637-22742G>T (n.637-22742G>T) | ClinVar dbSNP |
| 15 | g.48497392C= | CA2175521447 | FBN1 | c.2168-1G= (n.2168-1G=) n.842-1G= c.637-22742G= (n.637-22742G=) | |
| 15 | g.48497392C>G | CA392335954 | FBN1 | c.2168-1G>C (n.2168-1G>C) n.842-1G>C c.637-22742G>C (n.637-22742G>C) | ClinVar dbSNP |
| 15 | g.48497392C>T | CA392335956 | FBN1 | c.2168-1G>A (n.2168-1G>A) n.842-1G>A c.637-22742G>A (n.637-22742G>A) | |
| 15 | g.48497393T>A | CA392335958 | FBN1 | c.2168-2A>T (n.2168-2A>T) n.842-2A>T c.637-22743A>T (n.637-22743A>T) | |
| 15 | g.48497393T>C | CA392335960 | FBN1 | c.2168-2A>G (n.2168-2A>G) n.842-2A>G c.637-22743A>G (n.637-22743A>G) | ClinVar dbSNP |
| 15 | g.48497393T>G | CA392335961 | FBN1 | c.2168-2A>C (n.2168-2A>C) n.842-2A>C c.637-22743A>C (n.637-22743A>C) | |
| 15 | g.48497393T= | CA2175521449 | FBN1 | c.2168-2A= (n.2168-2A=) n.842-2A= c.637-22743A= (n.637-22743A=) | |
| 15 | g.48497394G>A | CA617838070 | FBN1 | c.2168-3C>T (n.2168-3C>T) n.842-3C>T c.637-22744C>T (n.637-22744C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48497394G= | CA2175521450 | FBN1 | c.2168-3C= (n.2168-3C=) n.842-3C= c.637-22744C= (n.637-22744C=) | |
| 15 | g.48497395C>T | CA2499223007 | FBN1 | c.2168-4G>A (n.2168-4G>A) n.842-4G>A c.637-22745G>A (n.637-22745G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48497396A= | CA2175521453 | FBN1 | c.2168-5T= (n.2168-5T=) n.842-5T= c.637-22746T= (n.637-22746T=) | |
| 15 | g.48497396A>C | CA2175521452 | FBN1 | c.2168-5T>G (n.2168-5T>G) n.842-5T>G c.637-22746T>G (n.637-22746T>G) | dbSNP gnomAD v4 |
| 15 | g.48497397C= | CA2175521454 | FBN1 | c.2168-6G= (n.2168-6G=) n.842-6G= c.637-22747G= (n.637-22747G=) | |
| 15 | g.48497397C>T | CA047144 | FBN1 | c.2168-6G>A (n.2168-6G>A) n.842-6G>A c.637-22747G>A (n.637-22747G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497398C>G | CA2628335374 | FBN1 | c.2168-7G>C (n.2168-7G>C) n.842-7G>C c.637-22748G>C (n.637-22748G>C) | ClinVar gnomAD v4 |
| 15 | g.48497400_48497401del | CA047059 | FBN1 | c.2168-8_2168-7del (n.2168-8_2168-7del) n.842-8_842-7del c.637-22749_637-22748del (n.637-22749_637-22748del) | |
| 15 | g.48497400C>A | CA617838071 | FBN1 | c.2168-9G>T (n.2168-9G>T) n.842-9G>T c.637-22750G>T (n.637-22750G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497400C= | CA2175521456 | FBN1 | c.2168-9G= (n.2168-9G=) n.842-9G= c.637-22750G= (n.637-22750G=) | |
| 15 | g.48497400C>T | CA7547935 | FBN1 | c.2168-9G>A (n.2168-9G>A) n.842-9G>A c.637-22750G>A (n.637-22750G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497400_48497401delinsCA | CA2175521457 | FBN1 | c.2168-10_2168-9delinsTG (n.2168-10_2168-9delinsTG) n.842-10_842-9delinsTG c.637-22751_637-22750delinsTG (n.637-22751_637-22750delinsTG) | |
| 15 | g.48497406dup | CA7547934 | FBN1 | c.2168-10dup (n.2168-10dup) n.842-10dup c.637-22751dup (n.637-22751dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497406del | CA7547933 | FBN1 | c.2168-10del (n.2168-10del) n.842-10del c.637-22751del (n.637-22751del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497402A= | CA2175521460 | FBN1 | c.2168-11T= (n.2168-11T=) n.842-11T= c.637-22752T= (n.637-22752T=) | |
| 15 | g.48497402A>C | CA617838072 | FBN1 | c.2168-11T>G (n.2168-11T>G) n.842-11T>G c.637-22752T>G (n.637-22752T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497402A>G | CA047076 | FBN1 | c.2168-11T>C (n.2168-11T>C) n.842-11T>C c.637-22752T>C (n.637-22752T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497402A>T | CA617838073 | FBN1 | c.2168-11T>A (n.2168-11T>A) n.842-11T>A c.637-22752T>A (n.637-22752T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497405_48497408delinsAAGG | CA2175521461 | FBN1 | c.2168-17_2168-14delinsCCTT (n.2168-17_2168-14delinsCCTT) n.842-17_842-14delinsCCTT c.637-22758_637-22755delinsCCTT (n.637-22758_637-22755delinsCCTT) | |
| 15 | g.48497406A>C | CA2628335375 | FBN1 | c.2168-15T>G (n.2168-15T>G) n.842-15T>G c.637-22756T>G (n.637-22756T>G) | ClinVar gnomAD v4 |
| 15 | g.48497406_48497408del | CA617838074 | FBN1 | c.2168-17_2168-15del (n.2168-17_2168-15del) n.842-17_842-15del c.637-22758_637-22756del (n.637-22758_637-22756del) | dbSNP gnomAD v2 |
| 15 | g.48497407G>A | CA2628335376 | FBN1 | c.2168-16C>T (n.2168-16C>T) n.842-16C>T c.637-22757C>T (n.637-22757C>T) | gnomAD v4 |
| 15 | g.48497409T>A | CA713410526 | FBN1 | c.2168-18A>T (n.2168-18A>T) n.842-18A>T c.637-22759A>T (n.637-22759A>T) | dbSNP |
| 15 | g.48497409T= | CA2175521463 | FBN1 | c.2168-18A= (n.2168-18A=) n.842-18A= c.637-22759A= (n.637-22759A=) | |
| 15 | g.48497410C>A | CA047088 | FBN1 | c.2168-19G>T (n.2168-19G>T) n.842-19G>T c.637-22760G>T (n.637-22760G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497410C= | CA2175521464 | FBN1 | c.2168-19G= (n.2168-19G=) n.842-19G= c.637-22760G= (n.637-22760G=) | |
| 15 | g.48497410C>T | CA617838075 | FBN1 | c.2168-19G>A (n.2168-19G>A) n.842-19G>A c.637-22760G>A (n.637-22760G>A) | dbSNP gnomAD v2 |
| 15 | g.48497411A= | CA2175521466 | FBN1 | c.2168-20T= (n.2168-20T=) n.842-20T= c.637-22761T= (n.637-22761T=) | |
| 15 | g.48497411A>T | CA617838076 | FBN1 | c.2168-20T>A (n.2168-20T>A) n.842-20T>A c.637-22761T>A (n.637-22761T>A) | dbSNP gnomAD v2 |
| 15 | g.48497413A= | CA2175521467 | FBN1 | c.2168-22T= (n.2168-22T=) n.842-22T= c.637-22763T= (n.637-22763T=) | |
| 15 | g.48497413A>C | CA047096 | FBN1 | c.2168-22T>G (n.2168-22T>G) n.842-22T>G c.637-22763T>G (n.637-22763T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48497414A>C | CA2628335377 | FBN1 | c.2168-23T>G (n.2168-23T>G) n.842-23T>G c.637-22764T>G (n.637-22764T>G) | gnomAD v4 |
| 15 | g.48497415T>A | CA047102 | FBN1 | c.2168-24A>T (n.2168-24A>T) n.842-24A>T c.637-22765A>T (n.637-22765A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48497415T= | CA2175521469 | FBN1 | c.2168-24A= (n.2168-24A=) n.842-24A= c.637-22765A= (n.637-22765A=) |