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.48483773T>A | CA617835372 | FBN1 | c.3838+45A>T (n.3838+45A>T) n.2512+45A>T c.637-9123A>T (n.637-9123A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483773T= | CA2175509308 | FBN1 | c.3838+45A= (n.3838+45A=) n.2512+45A= c.637-9123A= (n.637-9123A=) | |
| 15 | g.48483775T>A | CA051575 | FBN1 | c.3838+43A>T (n.3838+43A>T) n.2512+43A>T c.637-9125A>T (n.637-9125A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483775T>C | CA2628329243 | FBN1 | c.3838+43A>G (n.3838+43A>G) n.2512+43A>G c.637-9125A>G (n.637-9125A>G) | gnomAD v4 |
| 15 | g.48483775T= | CA2175509310 | FBN1 | c.3838+43A= (n.3838+43A=) n.2512+43A= c.637-9125A= (n.637-9125A=) | |
| 15 | g.48483776G>A | CA269525930 | FBN1 | c.3838+42C>T (n.3838+42C>T) n.2512+42C>T c.637-9126C>T (n.637-9126C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48483776G= | CA2175509313 | FBN1 | c.3838+42C= (n.3838+42C=) n.2512+42C= c.637-9126C= (n.637-9126C=) | |
| 15 | g.48483776G>T | CA2628329247 | FBN1 | c.3838+42C>A (n.3838+42C>A) n.2512+42C>A c.637-9126C>A (n.637-9126C>A) | gnomAD v4 |
| 15 | g.48483779T>C | CA617835374 | FBN1 | c.3838+39A>G (n.3838+39A>G) n.2512+39A>G c.637-9129A>G (n.637-9129A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483779T= | CA2175509316 | FBN1 | c.3838+39A= (n.3838+39A=) n.2512+39A= c.637-9129A= (n.637-9129A=) | |
| 15 | g.48483781del | CA2628329267 | FBN1 | c.3838+38del (n.3838+38del) n.2512+38del c.637-9130del (n.637-9130del) | gnomAD v4 |
| 15 | g.48483782C>T | CA2628329268 | FBN1 | c.3838+36G>A (n.3838+36G>A) n.2512+36G>A c.637-9132G>A (n.637-9132G>A) | gnomAD v4 |
| 15 | g.48483783A= | CA2175509319 | FBN1 | c.3838+35T= (n.3838+35T=) n.2512+35T= c.637-9133T= (n.637-9133T=) | |
| 15 | g.48483783A>G | CA617835376 | FBN1 | c.3838+35T>C (n.3838+35T>C) n.2512+35T>C c.637-9133T>C (n.637-9133T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483785G>A | CA2804072400 | FBN1 | c.3838+33C>T (n.3838+33C>T) n.2512+33C>T c.637-9135C>T (n.637-9135C>T) | |
| 15 | g.48483785G>T | CA2628329272 | FBN1 | c.3838+33C>A (n.3838+33C>A) n.2512+33C>A c.637-9135C>A (n.637-9135C>A) | gnomAD v4 |
| 15 | g.48483787_48483789delinsCAA | CA2175509321 | FBN1 | c.3838+29_3838+31delinsTTG (n.3838+29_3838+31delinsTTG) n.2512+29_2512+31delinsTTG c.637-9139_637-9137delinsTTG (n.637-9139_637-9137delinsTTG) | |
| 15 | g.48483788_48483789del | CA713382587 | FBN1 | c.3838+29_3838+30del (n.3838+29_3838+30del) n.2512+29_2512+30del c.637-9139_637-9138del (n.637-9139_637-9138del) | dbSNP |
| 15 | g.48483790G>A | CA2175509326 | FBN1 | c.3838+28C>T (n.3838+28C>T) n.2512+28C>T c.637-9140C>T (n.637-9140C>T) | dbSNP |
| 15 | g.48483790G= | CA2175509325 | FBN1 | c.3838+28C= (n.3838+28C=) n.2512+28C= c.637-9140C= (n.637-9140C=) | |
| 15 | g.48483793G= | CA2175509327 | FBN1 | c.3838+25C= (n.3838+25C=) n.2512+25C= c.637-9143C= (n.637-9143C=) | |
| 15 | g.48483793G>T | CA617835378 | FBN1 | c.3838+25C>A (n.3838+25C>A) n.2512+25C>A c.637-9143C>A (n.637-9143C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483798A= | CA2175509329 | FBN1 | c.3838+20T= (n.3838+20T=) n.2512+20T= c.637-9148T= (n.637-9148T=) | |
| 15 | g.48483798A>G | CA051573 | FBN1 | c.3838+20T>C (n.3838+20T>C) n.2512+20T>C c.637-9148T>C (n.637-9148T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483799_48483801delinsTTC | CA2175509331 | FBN1 | c.3838+17_3838+19delinsGAA (n.3838+17_3838+19delinsGAA) n.2512+17_2512+19delinsGAA c.637-9151_637-9149delinsGAA (n.637-9151_637-9149delinsGAA) | |
| 15 | g.48483800T>A | CA2740096706 | FBN1 | c.3838+18A>T (n.3838+18A>T) n.2512+18A>T c.637-9150A>T (n.637-9150A>T) | ClinVar |
| 15 | g.48483801_48483802del | CA2175509332 | FBN1 | c.3838+17_3838+18del (n.3838+17_3838+18del) n.2512+17_2512+18del c.637-9151_637-9150del (n.637-9151_637-9150del) | dbSNP |
| 15 | g.48483802T>C | CA269525940 | FBN1 | c.3838+16A>G (n.3838+16A>G) n.2512+16A>G c.637-9152A>G (n.637-9152A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48483802T= | CA2175509333 | FBN1 | c.3838+16A= (n.3838+16A=) n.2512+16A= c.637-9152A= (n.637-9152A=) | |
| 15 | g.48483803G>A | CA2628329280 | FBN1 | c.3838+15C>T (n.3838+15C>T) n.2512+15C>T c.637-9153C>T (n.637-9153C>T) | gnomAD v4 |
| 15 | g.48483804T>C | CA2628329282 | FBN1 | c.3838+14A>G (n.3838+14A>G) n.2512+14A>G c.637-9154A>G (n.637-9154A>G) | gnomAD v4 |
| 15 | g.48483805_48483809delinsCTTCT | CA2175509335 | FBN1 | c.3838+9_3838+13delinsAGAAG (n.3838+9_3838+13delinsAGAAG) n.2512+9_2512+13delinsAGAAG c.637-9159_637-9155delinsAGAAG (n.637-9159_637-9155delinsAGAAG) | |
| 15 | g.48483806T>A | CA051565 | FBN1 | c.3838+12A>T (n.3838+12A>T) n.2512+12A>T c.637-9156A>T (n.637-9156A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48483806T= | CA2175509336 | FBN1 | c.3838+12A= (n.3838+12A=) n.2512+12A= c.637-9156A= (n.637-9156A=) | |
| 15 | g.48483808_48483811del | CA969555182 | FBN1 | c.3838+9_3838+12del (n.3838+9_3838+12del) n.2512+9_2512+12del c.637-9159_637-9156del (n.637-9159_637-9156del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48483808_48483809delinsCT | CA2175509340 | FBN1 | c.3838+9_3838+10delinsAG (n.3838+9_3838+10delinsAG) n.2512+9_2512+10delinsAG c.637-9159_637-9158delinsAG (n.637-9159_637-9158delinsAG) | |
| 15 | g.48483811del | CA617835380 | FBN1 | c.3838+9del (n.3838+9del) n.2512+9del c.637-9159del (n.637-9159del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483811T>C | CA2575717185 | FBN1 | c.3838+7A>G (n.3838+7A>G) n.2512+7A>G c.637-9161A>G (n.637-9161A>G) | |
| 15 | g.48483813C= | CA2175509344 | FBN1 | c.3838+5G= (n.3838+5G=) n.2512+5G= c.637-9163G= (n.637-9163G=) | |
| 15 | g.48483813C>T | CA2175509346 | FBN1 | c.3838+5G>A (n.3838+5G>A) n.2512+5G>A c.637-9163G>A (n.637-9163G>A) | dbSNP gnomAD v4 |
| 15 | g.48483815T>A | CA658824434 | FBN1 | c.3838+3A>T (n.3838+3A>T) n.2512+3A>T c.637-9165A>T (n.637-9165A>T) | ClinVar dbSNP |
| 15 | g.48483815T= | CA2175509350 | FBN1 | c.3838+3A= (n.3838+3A=) n.2512+3A= c.637-9165A= (n.637-9165A=) | |
| 15 | g.48483816A>C | CA392323508 | FBN1 | c.3838+2T>G (n.3838+2T>G) n.2512+2T>G c.637-9166T>G (n.637-9166T>G) | |
| 15 | g.48483816A>G | CA392323511 | FBN1 | c.3838+2T>C (n.3838+2T>C) n.2512+2T>C c.637-9166T>C (n.637-9166T>C) | ClinVar |
| 15 | g.48483816A>T | CA392323514 | FBN1 | c.3838+2T>A (n.3838+2T>A) n.2512+2T>A c.637-9166T>A (n.637-9166T>A) | |
| 15 | g.48483817C>A | CA392323517 | FBN1 | c.3838+1G>T (n.3838+1G>T) n.2512+1G>T c.637-9167G>T (n.637-9167G>T) | |
| 15 | g.48483817C>G | CA392323519 | FBN1 | c.3838+1G>C (n.3838+1G>C) n.2512+1G>C c.637-9167G>C (n.637-9167G>C) | |
| 15 | g.48483817C>T | CA392323521 | FBN1 | c.3838+1G>A (n.3838+1G>A) n.2512+1G>A c.637-9167G>A (n.637-9167G>A) | |
| 15 | g.48483818C>A | CA392323524 | FBN1 | c.3838G>T (p.Asp1280Tyr) n.2512G>T c.637-9168G>T (n.637-9168G>T) | |
| 15 | g.48483818C= | CA2175509357 | FBN1 | c.3838G= (p.Asp1280=) n.2512G= c.637-9168G= (n.637-9168G=) | |
| 15 | g.48483818C>G | CA392323527 | FBN1 | c.3838G>C (p.Asp1280His) n.2512G>C c.637-9168G>C (n.637-9168G>C) | |
| 15 | g.48483818C>T | CA014572 | FBN1 | c.3838G>A (p.Asp1280Asn) n.2512G>A c.637-9168G>A (n.637-9168G>A) | ClinVar dbSNP |
| 15 | g.48483819_48483823del | CA2695220657 | FBN1 | c.3834_3838del (p.Cys1278Ter) n.2508_2512del c.637-9172_637-9168del (n.637-9172_637-9168del) | |
| 15 | g.48483819T>A | CA490016915 | FBN1 | c.3837A>T (p.Val1279=) n.2511A>T c.637-9169A>T (n.637-9169A>T) | |
| 15 | g.48483819T>C | CA269525957 | FBN1 | c.3837A>G (p.Val1279=) n.2511A>G c.637-9169A>G (n.637-9169A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483819T>G | CA490016913 | FBN1 | c.3837A>C (p.Val1279=) n.2511A>C c.637-9169A>C (n.637-9169A>C) | |
| 15 | g.48483819T= | CA2175509369 | FBN1 | c.3837A= (p.Val1279=) n.2511A= c.637-9169A= (n.637-9169A=) | |
| 15 | g.48483820A>C | CA392323539 | FBN1 | c.3836T>G (p.Val1279Gly) n.2510T>G c.637-9170T>G (n.637-9170T>G) | |
| 15 | g.48483820A>G | CA392323535 | FBN1 | c.3836T>C (p.Val1279Ala) n.2510T>C c.637-9170T>C (n.637-9170T>C) | gnomAD v4 COSMIC |
| 15 | g.48483820A>T | CA392323533 | FBN1 | c.3836T>A (p.Val1279Glu) n.2510T>A c.637-9170T>A (n.637-9170T>A) | |
| 15 | g.48483820dup | CA2695220658 | FBN1 | c.3836dup (p.Asp1280ArgfsTer4) n.2510dup c.637-9170dup (n.637-9170dup) | |
| 15 | g.48483821del | CA2695220659 | FBN1 | c.3835del (p.Val1279Ter) n.2509del c.637-9171del (n.637-9171del) | |
| 15 | g.48483821C>A | CA392323541 | FBN1 | c.3835G>T (p.Val1279Leu) n.2509G>T c.637-9171G>T (n.637-9171G>T) | |
| 15 | g.48483821C>G | CA392323542 | FBN1 | c.3835G>C (p.Val1279Leu) n.2509G>C c.637-9171G>C (n.637-9171G>C) | |
| 15 | g.48483821C>T | CA392323545 | FBN1 | c.3835G>A (p.Val1279Ile) n.2509G>A c.637-9171G>A (n.637-9171G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48483822A= | CA2175509380 | FBN1 | c.3834T= (p.Cys1278=) n.2508T= c.637-9172T= (n.637-9172T=) | |
| 15 | g.48483822A>C | CA10588585 | FBN1 | c.3834T>G (p.Cys1278Trp) n.2508T>G c.637-9172T>G (n.637-9172T>G) | ClinVar dbSNP |
| 15 | g.48483822A>G | CA490016922 | FBN1 | c.3834T>C (p.Cys1278=) n.2508T>C c.637-9172T>C (n.637-9172T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48483822A>T | CA392323549 | FBN1 | c.3834T>A (p.Cys1278Ter) n.2508T>A c.637-9172T>A (n.637-9172T>A) | |
| 15 | g.48483823C>A | CA392323553 | FBN1 | c.3833G>T (p.Cys1278Phe) n.2507G>T c.637-9173G>T (n.637-9173G>T) | |
| 15 | g.48483823C>G | CA392323555 | FBN1 | c.3833G>C (p.Cys1278Ser) n.2507G>C c.637-9173G>C (n.637-9173G>C) | ClinVar |
| 15 | g.48483823C>T | CA392323557 | FBN1 | c.3833G>A (p.Cys1278Tyr) n.2507G>A c.637-9173G>A (n.637-9173G>A) | ClinVar |
| 15 | g.48483823dup | CA2695220660 | FBN1 | c.3833dup (p.Cys1278TrpfsTer6) n.2507dup c.637-9173dup (n.637-9173dup) | |
| 15 | g.48483824A>C | CA392323561 | FBN1 | c.3832T>G (p.Cys1278Gly) n.2506T>G c.637-9174T>G (n.637-9174T>G) | |
| 15 | g.48483824A>G | CA392323563 | FBN1 | c.3832T>C (p.Cys1278Arg) n.2506T>C c.637-9174T>C (n.637-9174T>C) | |
| 15 | g.48483824A>T | CA392323565 | FBN1 | c.3832T>A (p.Cys1278Ser) n.2506T>A c.637-9174T>A (n.637-9174T>A) | |
| 15 | g.48483825A>C | CA490016927 | FBN1 | c.3831T>G (p.Thr1277=) n.2505T>G c.637-9175T>G (n.637-9175T>G) | |
| 15 | g.48483825A>G | CA490016929 | FBN1 | c.3831T>C (p.Thr1277=) n.2505T>C c.637-9175T>C (n.637-9175T>C) | |
| 15 | g.48483825A>T | CA490016930 | FBN1 | c.3831T>A (p.Thr1277=) n.2505T>A c.637-9175T>A (n.637-9175T>A) | |
| 15 | g.48483826G>A | CA392323566 | FBN1 | c.3830C>T (p.Thr1277Ile) n.2504C>T c.637-9176C>T (n.637-9176C>T) | gnomAD v4 |
| 15 | g.48483826G>C | CA392323568 | FBN1 | c.3830C>G (p.Thr1277Ser) n.2504C>G c.637-9176C>G (n.637-9176C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483826G= | CA2175509390 | FBN1 | c.3830C= (p.Thr1277=) n.2504C= c.637-9176C= (n.637-9176C=) | |
| 15 | g.48483826G>T | CA392323570 | FBN1 | c.3830C>A (p.Thr1277Asn) n.2504C>A c.637-9176C>A (n.637-9176C>A) | |
| 15 | g.48483833_48483840del | CA2580089557 | FBN1 | c.3823_3830del (p.Met1275LeufsTer6) n.2497_2504del c.637-9183_637-9176del (n.637-9183_637-9176del) | ClinVar |
| 15 | g.48483827T>A | CA392323574 | FBN1 | c.3829A>T (p.Thr1277Ser) n.2503A>T c.637-9177A>T (n.637-9177A>T) | |
| 15 | g.48483827T>C | CA392323576 | FBN1 | c.3829A>G (p.Thr1277Ala) n.2503A>G c.637-9177A>G (n.637-9177A>G) | |
| 15 | g.48483827T>G | CA392323572 | FBN1 | c.3829A>C (p.Thr1277Pro) n.2503A>C c.637-9177A>C (n.637-9177A>C) | |
| 15 | g.48483828C>A | CA392323579 | FBN1 | c.3828G>T (p.Lys1276Asn) n.2502G>T c.637-9178G>T (n.637-9178G>T) | |
| 15 | g.48483828C>G | CA392323581 | FBN1 | c.3828G>C (p.Lys1276Asn) n.2502G>C c.637-9178G>C (n.637-9178G>C) | |
| 15 | g.48483828C>T | CA490016935 | FBN1 | c.3828G>A (p.Lys1276=) n.2502G>A c.637-9178G>A (n.637-9178G>A) | |
| 15 | g.48483829T>A | CA392323583 | FBN1 | c.3827A>T (p.Lys1276Met) n.2501A>T c.637-9179A>T (n.637-9179A>T) | |
| 15 | g.48483829T>C | CA392323586 | FBN1 | c.3827A>G (p.Lys1276Arg) n.2501A>G c.637-9179A>G (n.637-9179A>G) | |
| 15 | g.48483829T>G | CA392323588 | FBN1 | c.3827A>C (p.Lys1276Thr) n.2501A>C c.637-9179A>C (n.637-9179A>C) | |
| 15 | g.48483830T>A | CA392323595 | FBN1 | c.3826A>T (p.Lys1276Ter) n.2500A>T c.637-9180A>T (n.637-9180A>T) | |
| 15 | g.48483830T>C | CA392323593 | FBN1 | c.3826A>G (p.Lys1276Glu) n.2500A>G c.637-9180A>G (n.637-9180A>G) | |
| 15 | g.48483830T>G | CA392323591 | FBN1 | c.3826A>C (p.Lys1276Gln) n.2500A>C c.637-9180A>C (n.637-9180A>C) | |
| 15 | g.48483831C>A | CA392323599 | FBN1 | c.3825G>T (p.Met1275Ile) n.2499G>T c.637-9181G>T (n.637-9181G>T) | |
| 15 | g.48483831C>G | CA392323601 | FBN1 | c.3825G>C (p.Met1275Ile) n.2499G>C c.637-9181G>C (n.637-9181G>C) | |
| 15 | g.48483831C>T | CA392323604 | FBN1 | c.3825G>A (p.Met1275Ile) n.2499G>A c.637-9181G>A (n.637-9181G>A) | |
| 15 | g.48483832A>C | CA392323606 | FBN1 | c.3824T>G (p.Met1275Arg) n.2498T>G c.637-9182T>G (n.637-9182T>G) | |
| 15 | g.48483832A>G | CA392323608 | FBN1 | c.3824T>C (p.Met1275Thr) n.2498T>C c.637-9182T>C (n.637-9182T>C) | |
| 15 | g.48483832A>T | CA392323616 | FBN1 | c.3824T>A (p.Met1275Lys) n.2498T>A c.637-9182T>A (n.637-9182T>A) | |
| 15 | g.48483833T>A | CA392323618 | FBN1 | c.3823A>T (p.Met1275Leu) n.2497A>T c.637-9183A>T (n.637-9183A>T) | |
| 15 | g.48483833T>C | CA392323622 | FBN1 | c.3823A>G (p.Met1275Val) n.2497A>G c.637-9183A>G (n.637-9183A>G) | ClinVar dbSNP |
| 15 | g.48483833T>G | CA051554 | FBN1 | c.3823A>C (p.Met1275Leu) n.2497A>C c.637-9183A>C (n.637-9183A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48483833T= | CA2175509397 | FBN1 | c.3823A= (p.Met1275=) n.2497A= c.637-9183A= (n.637-9183A=) | |
| 15 | g.48483834G>A | CA490016943 | FBN1 | c.3822C>T (p.Asp1274=) n.2496C>T c.637-9184C>T (n.637-9184C>T) | |
| 15 | g.48483834G>C | CA392323624 | FBN1 | c.3822C>G (p.Asp1274Glu) n.2496C>G c.637-9184C>G (n.637-9184C>G) | |
| 15 | g.48483834G>T | CA392323625 | FBN1 | c.3822C>A (p.Asp1274Glu) n.2496C>A c.637-9184C>A (n.637-9184C>A) | gnomAD v4 |
| 15 | g.48483835del | CA2580089559 | FBN1 | c.3821del (p.Asp1274AlafsTer2) n.2495del c.637-9185del (n.637-9185del) | ClinVar |
| 15 | g.48483835T>A | CA392323628 | FBN1 | c.3821A>T (p.Asp1274Val) n.2495A>T c.637-9185A>T (n.637-9185A>T) | |
| 15 | g.48483835T>C | CA392323630 | FBN1 | c.3821A>G (p.Asp1274Gly) n.2495A>G c.637-9185A>G (n.637-9185A>G) | gnomAD v4 |
| 15 | g.48483835T>G | CA392323631 | FBN1 | c.3821A>C (p.Asp1274Ala) n.2495A>C c.637-9185A>C (n.637-9185A>C) | |
| 15 | g.48483836C>A | CA392323632 | FBN1 | c.3820G>T (p.Asp1274Tyr) n.2494G>T c.637-9186G>T (n.637-9186G>T) | |
| 15 | g.48483836C>G | CA392323633 | FBN1 | c.3820G>C (p.Asp1274His) n.2494G>C c.637-9186G>C (n.637-9186G>C) | |
| 15 | g.48483836C>T | CA392323635 | FBN1 | c.3820G>A (p.Asp1274Asn) n.2494G>A c.637-9186G>A (n.637-9186G>A) | |
| 15 | g.48483837T>A | CA392323637 | FBN1 | c.3819A>T (p.Glu1273Asp) n.2493A>T c.637-9187A>T (n.637-9187A>T) | |
| 15 | g.48483837T>C | CA490016953 | FBN1 | c.3819A>G (p.Glu1273=) n.2493A>G c.637-9187A>G (n.637-9187A>G) | |
| 15 | g.48483837T>G | CA392323639 | FBN1 | c.3819A>C (p.Glu1273Asp) n.2493A>C c.637-9187A>C (n.637-9187A>C) | |
| 15 | g.48483838T>A | CA392323644 | FBN1 | c.3818A>T (p.Glu1273Val) n.2492A>T c.637-9188A>T (n.637-9188A>T) | |
| 15 | g.48483838T>C | CA392323641 | FBN1 | c.3818A>G (p.Glu1273Gly) n.2492A>G c.637-9188A>G (n.637-9188A>G) | |
| 15 | g.48483838T>G | CA392323642 | FBN1 | c.3818A>C (p.Glu1273Ala) n.2492A>C c.637-9188A>C (n.637-9188A>C) | |
| 15 | g.48483839C>A | CA392323647 | FBN1 | c.3817G>T (p.Glu1273Ter) n.2491G>T c.637-9189G>T (n.637-9189G>T) | |
| 15 | g.48483839C>G | CA392323658 | FBN1 | c.3817G>C (p.Glu1273Gln) n.2491G>C c.637-9189G>C (n.637-9189G>C) | |
| 15 | g.48483839C>T | CA392323655 | FBN1 | c.3817G>A (p.Glu1273Lys) n.2491G>A c.637-9189G>A (n.637-9189G>A) | |
| 15 | g.48483840del | CA2573150789 | FBN1 | c.3816del (p.Glu1273LysfsTer3) n.2490del c.637-9190del (n.637-9190del) | ClinVar dbSNP |
| 15 | g.48483840A>C | CA490016960 | FBN1 | c.3816T>G (p.Ser1272=) n.2490T>G c.637-9190T>G (n.637-9190T>G) | |
| 15 | g.48483840A>G | CA490016961 | FBN1 | c.3816T>C (p.Ser1272=) n.2490T>C c.637-9190T>C (n.637-9190T>C) | |
| 15 | g.48483840A>T | CA490016962 | FBN1 | c.3816T>A (p.Ser1272=) n.2490T>A c.637-9190T>A (n.637-9190T>A) | |
| 15 | g.48483840_48483841delinsAG | CA2175509406 | FBN1 | c.3815_3816delinsCT (p.Ser1272=) n.2489_2490delinsCT c.637-9191_637-9190delinsCT (n.637-9191_637-9190delinsCT) | |
| 15 | g.48483841del | CA658798366 | FBN1 | c.3815del (p.Ser1272LeufsTer4) n.2489del c.637-9191del (n.637-9191del) | ClinVar dbSNP |
| 15 | g.48483841G>A | CA392323661 | FBN1 | c.3815C>T (p.Ser1272Phe) n.2489C>T c.637-9191C>T (n.637-9191C>T) | |
| 15 | g.48483841G>C | CA392323663 | FBN1 | c.3815C>G (p.Ser1272Cys) n.2489C>G c.637-9191C>G (n.637-9191C>G) | |
| 15 | g.48483841G= | CA2175509415 | FBN1 | c.3815C= (p.Ser1272=) n.2489C= c.637-9191C= (n.637-9191C=) | |
| 15 | g.48483841G>T | CA392323665 | FBN1 | c.3815C>A (p.Ser1272Tyr) n.2489C>A c.637-9191C>A (n.637-9191C>A) | ClinVar dbSNP |
| 15 | g.48483842A>C | CA392323668 | FBN1 | c.3814T>G (p.Ser1272Ala) n.2488T>G c.637-9192T>G (n.637-9192T>G) | |
| 15 | g.48483842A>G | CA392323671 | FBN1 | c.3814T>C (p.Ser1272Pro) n.2488T>C c.637-9192T>C (n.637-9192T>C) | |
| 15 | g.48483842A>T | CA392323673 | FBN1 | c.3814T>A (p.Ser1272Thr) n.2488T>A c.637-9192T>A (n.637-9192T>A) | |
| 15 | g.48483843T>A | CA490016970 | FBN1 | c.3813A>T (p.Ala1271=) n.2487A>T c.637-9193A>T (n.637-9193A>T) | gnomAD v4 |
| 15 | g.48483843T>C | CA490016973 | FBN1 | c.3813A>G (p.Ala1271=) n.2487A>G c.637-9193A>G (n.637-9193A>G) | |
| 15 | g.48483843T>G | CA490016975 | FBN1 | c.3813A>C (p.Ala1271=) n.2487A>C c.637-9193A>C (n.637-9193A>C) | |
| 15 | g.48483844G>A | CA392323680 | FBN1 | c.3812C>T (p.Ala1271Val) n.2486C>T c.637-9194C>T (n.637-9194C>T) | |
| 15 | g.48483844G>C | CA392323678 | FBN1 | c.3812C>G (p.Ala1271Gly) n.2486C>G c.637-9194C>G (n.637-9194C>G) | |
| 15 | g.48483844G>T | CA392323676 | FBN1 | c.3812C>A (p.Ala1271Glu) n.2486C>A c.637-9194C>A (n.637-9194C>A) | |
| 15 | g.48483845C>A | CA392323683 | FBN1 | c.3811G>T (p.Ala1271Ser) n.2485G>T c.637-9195G>T (n.637-9195G>T) | gnomAD v4 |
| 15 | g.48483845C= | CA2175509421 | FBN1 | c.3811G= (p.Ala1271=) n.2485G= c.637-9195G= (n.637-9195G=) | |
| 15 | g.48483845C>G | CA392323685 | FBN1 | c.3811G>C (p.Ala1271Pro) n.2485G>C c.637-9195G>C (n.637-9195G>C) | |
| 15 | g.48483845C>T | CA269525999 | FBN1 | c.3811G>A (p.Ala1271Thr) n.2485G>A c.637-9195G>A (n.637-9195G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48483846C>A | CA392323690 | FBN1 | c.3810G>T (p.Met1270Ile) n.2484G>T c.637-9196G>T (n.637-9196G>T) | |
| 15 | g.48483846C>G | CA392323692 | FBN1 | c.3810G>C (p.Met1270Ile) n.2484G>C c.637-9196G>C (n.637-9196G>C) | |
| 15 | g.48483846C>T | CA392323694 | FBN1 | c.3810G>A (p.Met1270Ile) n.2484G>A c.637-9196G>A (n.637-9196G>A) | |
| 15 | g.48483847A>C | CA392323698 | FBN1 | c.3809T>G (p.Met1270Arg) n.2483T>G c.637-9197T>G (n.637-9197T>G) | |
| 15 | g.48483847A>G | CA392323702 | FBN1 | c.3809T>C (p.Met1270Thr) n.2483T>C c.637-9197T>C (n.637-9197T>C) | |
| 15 | g.48483847A>T | CA392323700 | FBN1 | c.3809T>A (p.Met1270Lys) n.2483T>A c.637-9197T>A (n.637-9197T>A) | |
| 15 | g.48483848T>A | CA392323705 | FBN1 | c.3808A>T (p.Met1270Leu) n.2482A>T c.637-9198A>T (n.637-9198A>T) | ClinVar gnomAD v4 |
| 15 | g.48483848T>C | CA392323707 | FBN1 | c.3808A>G (p.Met1270Val) n.2482A>G c.637-9198A>G (n.637-9198A>G) | |
| 15 | g.48483848T>G | CA392323709 | FBN1 | c.3808A>C (p.Met1270Leu) n.2482A>C c.637-9198A>C (n.637-9198A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48483848T= | CA2175509424 | FBN1 | c.3808A= (p.Met1270=) n.2482A= c.637-9198A= (n.637-9198A=) | |
| 15 | g.48483849G>A | CA490016993 | FBN1 | c.3807C>T (p.Phe1269=) n.2481C>T c.637-9199C>T (n.637-9199C>T) | |
| 15 | g.48483849G>C | CA392323713 | FBN1 | c.3807C>G (p.Phe1269Leu) n.2481C>G c.637-9199C>G (n.637-9199C>G) | |
| 15 | g.48483849G>T | CA392323714 | FBN1 | c.3807C>A (p.Phe1269Leu) n.2481C>A c.637-9199C>A (n.637-9199C>A) | gnomAD v4 |
| 15 | g.48483850A>C | CA392323717 | FBN1 | c.3806T>G (p.Phe1269Cys) n.2480T>G c.637-9200T>G (n.637-9200T>G) | |
| 15 | g.48483850A>G | CA392323719 | FBN1 | c.3806T>C (p.Phe1269Ser) n.2480T>C c.637-9200T>C (n.637-9200T>C) | ClinVar gnomAD v4 |
| 15 | g.48483850A>T | CA392323721 | FBN1 | c.3806T>A (p.Phe1269Tyr) n.2480T>A c.637-9200T>A (n.637-9200T>A) | |
| 15 | g.48483851A>C | CA392323725 | FBN1 | c.3805T>G (p.Phe1269Val) n.2479T>G c.637-9201T>G (n.637-9201T>G) | |
| 15 | g.48483851A>G | CA392323727 | FBN1 | c.3805T>C (p.Phe1269Leu) n.2479T>C c.637-9201T>C (n.637-9201T>C) | |
| 15 | g.48483851A>T | CA392323729 | FBN1 | c.3805T>A (p.Phe1269Ile) n.2479T>A c.637-9201T>A (n.637-9201T>A) | |
| 15 | g.48483852del | CA2573054038 | FBN1 | c.3804del (p.Phe1269SerfsTer7) n.2478del c.637-9202del (n.637-9202del) | ClinVar dbSNP |
| 15 | g.48483852T>A | CA490017004 | FBN1 | c.3804A>T (p.Gly1268=) n.2478A>T c.637-9202A>T (n.637-9202A>T) | |
| 15 | g.48483852T>C | CA490017003 | FBN1 | c.3804A>G (p.Gly1268=) n.2478A>G c.637-9202A>G (n.637-9202A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48483852T>G | CA490017002 | FBN1 | c.3804A>C (p.Gly1268=) n.2478A>C c.637-9202A>C (n.637-9202A>C) | |
| 15 | g.48483852T= | CA2175509426 | FBN1 | c.3804A= (p.Gly1268=) n.2478A= c.637-9202A= (n.637-9202A=) | |
| 15 | g.48483853C>A | CA392323731 | FBN1 | c.3803G>T (p.Gly1268Val) n.2477G>T c.637-9203G>T (n.637-9203G>T) | |
| 15 | g.48483853C>G | CA392323736 | FBN1 | c.3803G>C (p.Gly1268Ala) n.2477G>C c.637-9203G>C (n.637-9203G>C) | |
| 15 | g.48483853C>T | CA392323734 | FBN1 | c.3803G>A (p.Gly1268Glu) n.2477G>A c.637-9203G>A (n.637-9203G>A) | |
| 15 | g.48483854C>A | CA392323738 | FBN1 | c.3802G>T (p.Gly1268Ter) n.2476G>T c.637-9204G>T (n.637-9204G>T) | |
| 15 | g.48483854C>G | CA392323740 | FBN1 | c.3802G>C (p.Gly1268Arg) n.2476G>C c.637-9204G>C (n.637-9204G>C) | |
| 15 | g.48483854C>T | CA392323742 | FBN1 | c.3802G>A (p.Gly1268Arg) n.2476G>A c.637-9204G>A (n.637-9204G>A) | COSMIC |
| 15 | g.48483855A= | CA2175509429 | FBN1 | c.3801T= (p.Asp1267=) n.2475T= c.637-9205T= (n.637-9205T=) | |
| 15 | g.48483855A>C | CA392323745 | FBN1 | c.3801T>G (p.Asp1267Glu) n.2475T>G c.637-9205T>G (n.637-9205T>G) | |
| 15 | g.48483855A>G | CA051550 | FBN1 | c.3801T>C (p.Asp1267=) n.2475T>C c.637-9205T>C (n.637-9205T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483855A>T | CA392323749 | FBN1 | c.3801T>A (p.Asp1267Glu) n.2475T>A c.637-9205T>A (n.637-9205T>A) | |
| 15 | g.48483856T>A | CA392323752 | FBN1 | c.3800A>T (p.Asp1267Val) n.2474A>T c.637-9206A>T (n.637-9206A>T) | |
| 15 | g.48483856T>C | CA392323755 | FBN1 | c.3800A>G (p.Asp1267Gly) n.2474A>G c.637-9206A>G (n.637-9206A>G) | ClinVar |
| 15 | g.48483856T>G | CA392323757 | FBN1 | c.3800A>C (p.Asp1267Ala) n.2474A>C c.637-9206A>C (n.637-9206A>C) | |
| 15 | g.48483856_48483863delinsTCATAACA | CA2175509433 | FBN1 | c.3793_3800delinsTGTTATGA (p.Cys1265=) n.2467_2474delinsTGTTATGA c.637-9213_637-9206delinsTGTTATGA (n.637-9213_637-9206delinsTGTTATGA) | |
| 15 | g.48483857C>A | CA392323760 | FBN1 | c.3799G>T (p.Asp1267Tyr) n.2473G>T c.637-9207G>T (n.637-9207G>T) | |
| 15 | g.48483857C>G | CA392323761 | FBN1 | c.3799G>C (p.Asp1267His) n.2473G>C c.637-9207G>C (n.637-9207G>C) | |
| 15 | g.48483857C>T | CA392323763 | FBN1 | c.3799G>A (p.Asp1267Asn) n.2473G>A c.637-9207G>A (n.637-9207G>A) | |
| 15 | g.48483859_48483865del | CA658798367 | FBN1 | c.3793_3799del (p.Cys1265MetfsTer9) n.2467_2473del c.637-9213_637-9207del (n.637-9213_637-9207del) | ClinVar dbSNP |
| 15 | g.48483858A= | CA2175509445 | FBN1 | c.3798T= (p.Tyr1266=) n.2472T= c.637-9208T= (n.637-9208T=) | |
| 15 | g.48483858A>C | CA392323767 | FBN1 | c.3798T>G (p.Tyr1266Ter) n.2472T>G c.637-9208T>G (n.637-9208T>G) | |
| 15 | g.48483858A>G | CA051539 | FBN1 | c.3798T>C (p.Tyr1266=) n.2472T>C c.637-9208T>C (n.637-9208T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48483858A>T | CA269526018 | FBN1 | c.3798T>A (p.Tyr1266Ter) n.2472T>A c.637-9208T>A (n.637-9208T>A) | dbSNP |
| 15 | g.48483859T>A | CA014562 | FBN1 | c.3797A>T (p.Tyr1266Phe) n.2471A>T c.637-9209A>T (n.637-9209A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483859T>C | CA392323772 | FBN1 | c.3797A>G (p.Tyr1266Cys) n.2471A>G c.637-9209A>G (n.637-9209A>G) | gnomAD v4 |
| 15 | g.48483859T>G | CA392323774 | FBN1 | c.3797A>C (p.Tyr1266Ser) n.2471A>C c.637-9209A>C (n.637-9209A>C) | |
| 15 | g.48483859T= | CA2175509452 | FBN1 | c.3797A= (p.Tyr1266=) n.2471A= c.637-9209A= (n.637-9209A=) | |
| 15 | g.48483859dup | CA2695220661 | FBN1 | c.3797dup (p.Tyr1266Ter) n.2471dup c.637-9209dup (n.637-9209dup) | |
| 15 | g.48483860A>C | CA392323776 | FBN1 | c.3796T>G (p.Tyr1266Asp) n.2470T>G c.637-9210T>G (n.637-9210T>G) | |
| 15 | g.48483860A>G | CA392323778 | FBN1 | c.3796T>C (p.Tyr1266His) n.2470T>C c.637-9210T>C (n.637-9210T>C) | |
| 15 | g.48483860A>T | CA392323780 | FBN1 | c.3796T>A (p.Tyr1266Asn) n.2470T>A c.637-9210T>A (n.637-9210T>A) | |
| 15 | g.48483862_48483866del | CA2695220662 | FBN1 | c.3792_3796del (p.Cys1265Ter) n.2466_2470del c.637-9214_637-9210del (n.637-9214_637-9210del) | |
| 15 | g.48483861A= | CA2175509463 | FBN1 | c.3795T= (p.Cys1265=) n.2469T= c.637-9211T= (n.637-9211T=) | |
| 15 | g.48483861A>C | CA392323782 | FBN1 | c.3795T>G (p.Cys1265Trp) n.2469T>G c.637-9211T>G (n.637-9211T>G) | |
| 15 | g.48483861A>G | CA490017019 | FBN1 | c.3795T>C (p.Cys1265=) n.2469T>C c.637-9211T>C (n.637-9211T>C) | |
| 15 | g.48483861A>T | CA392323784 | FBN1 | c.3795T>A (p.Cys1265Ter) n.2469T>A c.637-9211T>A (n.637-9211T>A) | ClinVar dbSNP |
| 15 | g.48483862C>A | CA392323787 | FBN1 | c.3794G>T (p.Cys1265Phe) n.2468G>T c.637-9212G>T (n.637-9212G>T) | ClinVar dbSNP |
| 15 | g.48483862C= | CA2175509470 | FBN1 | c.3794G= (p.Cys1265=) n.2468G= c.637-9212G= (n.637-9212G=) | |
| 15 | g.48483862C>G | CA392323789 | FBN1 | c.3794G>C (p.Cys1265Ser) n.2468G>C c.637-9212G>C (n.637-9212G>C) | ClinVar dbSNP |
| 15 | g.48483862C>T | CA392323791 | FBN1 | c.3794G>A (p.Cys1265Tyr) n.2468G>A c.637-9212G>A (n.637-9212G>A) | ClinVar |
| 15 | g.48483863del | CA2695220663 | FBN1 | c.3793del (p.Cys1265ValfsTer11) n.2467del c.637-9213del (n.637-9213del) | |
| 15 | g.48483863A= | CA2175509481 | FBN1 | c.3793T= (p.Cys1265=) n.2467T= c.637-9213T= (n.637-9213T=) | |
| 15 | g.48483863A>C | CA392323798 | FBN1 | c.3793T>G (p.Cys1265Gly) n.2467T>G c.637-9213T>G (n.637-9213T>G) | |
| 15 | g.48483863A>G | CA014552 | FBN1 | c.3793T>C (p.Cys1265Arg) n.2467T>C c.637-9213T>C (n.637-9213T>C) | ClinVar dbSNP |
| 15 | g.48483863A>T | CA392323794 | FBN1 | c.3793T>A (p.Cys1265Ser) n.2467T>A c.637-9213T>A (n.637-9213T>A) | |
| 15 | g.48483864C>A | CA392323803 | FBN1 | c.3792G>T (p.Leu1264Phe) n.2466G>T c.637-9214G>T (n.637-9214G>T) | |
| 15 | g.48483864C= | CA2175509488 | FBN1 | c.3792G= (p.Leu1264=) n.2466G= c.637-9214G= (n.637-9214G=) | |
| 15 | g.48483864C>G | CA392323801 | FBN1 | c.3792G>C (p.Leu1264Phe) n.2466G>C c.637-9214G>C (n.637-9214G>C) | |
| 15 | g.48483864C>T | CA490017033 | FBN1 | c.3792G>A (p.Leu1264=) n.2466G>A c.637-9214G>A (n.637-9214G>A) | dbSNP gnomAD v4 |
| 15 | g.48483865A>C | CA392323811 | FBN1 | c.3791T>G (p.Leu1264Trp) n.2465T>G c.637-9215T>G (n.637-9215T>G) | |
| 15 | g.48483865A>G | CA392323806 | FBN1 | c.3791T>C (p.Leu1264Ser) n.2465T>C c.637-9215T>C (n.637-9215T>C) | |
| 15 | g.48483865A>T | CA392323808 | FBN1 | c.3791T>A (p.Leu1264Ter) n.2465T>A c.637-9215T>A (n.637-9215T>A) | |
| 15 | g.48483866A>C | CA392323814 | FBN1 | c.3790T>G (p.Leu1264Val) n.2464T>G c.637-9216T>G (n.637-9216T>G) | |
| 15 | g.48483866A>G | CA490017037 | FBN1 | c.3790T>C (p.Leu1264=) n.2464T>C c.637-9216T>C (n.637-9216T>C) | |
| 15 | g.48483866A>T | CA392323816 | FBN1 | c.3790T>A (p.Leu1264Met) n.2464T>A c.637-9216T>A (n.637-9216T>A) | |
| 15 | g.48483867G>A | CA490017038 | FBN1 | c.3789C>T (p.Cys1263=) n.2463C>T c.637-9217C>T (n.637-9217C>T) | |
| 15 | g.48483867G>C | CA16042964 | FBN1 | c.3789C>G (p.Cys1263Trp) n.2463C>G c.637-9217C>G (n.637-9217C>G) | ClinVar dbSNP |
| 15 | g.48483867G= | CA2175509494 | FBN1 | c.3789C= (p.Cys1263=) n.2463C= c.637-9217C= (n.637-9217C=) | |
| 15 | g.48483867G>T | CA392323823 | FBN1 | c.3789C>A (p.Cys1263Ter) n.2463C>A c.637-9217C>A (n.637-9217C>A) | |
| 15 | g.48483868C>A | CA392323827 | FBN1 | c.3788G>T (p.Cys1263Phe) n.2462G>T c.637-9218G>T (n.637-9218G>T) | ClinVar gnomAD v4 |
| 15 | g.48483868C>G | CA392323829 | FBN1 | c.3788G>C (p.Cys1263Ser) n.2462G>C c.637-9218G>C (n.637-9218G>C) | |
| 15 | g.48483868C>T | CA392323831 | FBN1 | c.3788G>A (p.Cys1263Tyr) n.2462G>A c.637-9218G>A (n.637-9218G>A) | |
| 15 | g.48483869_48483870dup | CA2695220664 | FBN1 | c.3787_3788dup (p.Leu1264AlafsTer13) n.2461_2462dup c.637-9219_637-9218dup (n.637-9219_637-9218dup) | |
| 15 | g.48483869A>C | CA392323834 | FBN1 | c.3787T>G (p.Cys1263Gly) n.2461T>G c.637-9219T>G (n.637-9219T>G) | |
| 15 | g.48483869A>G | CA392323836 | FBN1 | c.3787T>C (p.Cys1263Arg) n.2461T>C c.637-9219T>C (n.637-9219T>C) | |
| 15 | g.48483869A>T | CA392323838 | FBN1 | c.3787T>A (p.Cys1263Ser) n.2461T>A c.637-9219T>A (n.637-9219T>A) | |
| 15 | g.48483870C>A | CA392323843 | FBN1 | c.3786G>T (p.Arg1262Ser) n.2460G>T c.637-9220G>T (n.637-9220G>T) | ClinVar dbSNP |
| 15 | g.48483870C= | CA2175509507 | FBN1 | c.3786G= (p.Arg1262=) n.2460G= c.637-9220G= (n.637-9220G=) | |
| 15 | g.48483870C>G | CA392323840 | FBN1 | c.3786G>C (p.Arg1262Ser) n.2460G>C c.637-9220G>C (n.637-9220G>C) | |
| 15 | g.48483870C>T | CA490017055 | FBN1 | c.3786G>A (p.Arg1262=) n.2460G>A c.637-9220G>A (n.637-9220G>A) | ClinVar dbSNP |
| 15 | g.48483871C>A | CA392323845 | FBN1 | c.3785G>T (p.Arg1262Met) n.2459G>T c.637-9221G>T (n.637-9221G>T) | |
| 15 | g.48483871C= | CA2175509516 | FBN1 | c.3785G= (p.Arg1262=) n.2459G= c.637-9221G= (n.637-9221G=) | |
| 15 | g.48483871C>G | CA392323848 | FBN1 | c.3785G>C (p.Arg1262Thr) n.2459G>C c.637-9221G>C (n.637-9221G>C) | |
| 15 | g.48483871C>T | CA051513 | FBN1 | c.3785G>A (p.Arg1262Lys) n.2459G>A c.637-9221G>A (n.637-9221G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48483872T>A | CA392323851 | FBN1 | c.3784A>T (p.Arg1262Trp) n.2458A>T c.637-9222A>T (n.637-9222A>T) | |
| 15 | g.48483872T>C | CA392323853 | FBN1 | c.3784A>G (p.Arg1262Gly) n.2458A>G c.637-9222A>G (n.637-9222A>G) | |
| 15 | g.48483872T>G | CA490017061 | FBN1 | c.3784A>C (p.Arg1262=) n.2458A>C c.637-9222A>C (n.637-9222A>C) | |
| 15 | g.48483872_48483873delinsTG | CA2175509523 | FBN1 | c.3783_3784delinsCA (p.Tyr1261=) n.2457_2458delinsCA c.637-9223_637-9222delinsCA (n.637-9223_637-9222delinsCA) | |
| 15 | g.48483873del | CA658824435 | FBN1 | c.3783del (p.Tyr1261Ter) n.2457del c.637-9223del (n.637-9223del) | ClinVar dbSNP |
| 15 | g.48483873G>A | CA490017063 | FBN1 | c.3783C>T (p.Tyr1261=) n.2457C>T c.637-9223C>T (n.637-9223C>T) | gnomAD v4 |
| 15 | g.48483873G>C | CA392323856 | FBN1 | c.3783C>G (p.Tyr1261Ter) n.2457C>G c.637-9223C>G (n.637-9223C>G) | |
| 15 | g.48483873G>T | CA392323858 | FBN1 | c.3783C>A (p.Tyr1261Ter) n.2457C>A c.637-9223C>A (n.637-9223C>A) |