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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48467966_48468010delinsAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT | CA2175518206 | FBN1 | c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT (p.Lys1559=) n.3349_3393delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT c.*438_*482delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT (n.*438_*482delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT) | |
| 15 | g.48467970_48468013del | CA015290 | FBN1 | c.4675_4718del (p.Lys1559LeufsTer2) n.3349_3392del c.*438_*481del (n.*438_*481del) | ClinVar dbSNP |
| 15 | g.48467988_48468001del | CA2695220591 | FBN1 | c.4684_4697del (p.Cys1562GlyfsTer2) n.3358_3371del c.*447_*460del (n.*447_*460del) | |
| 15 | g.48467999G>A | CA490027148 | FBN1 | c.4686C>T (p.Cys1562=) n.3360C>T c.*449C>T (n.*449C>T) | |
| 15 | g.48467999G>C | CA392352972 | FBN1 | c.4686C>G (p.Cys1562Trp) n.3360C>G c.*449C>G (n.*449C>G) | |
| 15 | g.48467999G>T | CA392352973 | FBN1 | c.4686C>A (p.Cys1562Ter) n.3360C>A c.*449C>A (n.*449C>A) | |
| 15 | g.48468000C>A | CA392352974 | FBN1 | c.4685G>T (p.Cys1562Phe) n.3359G>T c.*448G>T (n.*448G>T) | ClinVar dbSNP |
| 15 | g.48468000C>G | CA392352976 | FBN1 | c.4685G>C (p.Cys1562Ser) n.3359G>C c.*448G>C (n.*448G>C) | |
| 15 | g.48468000C>T | CA392352975 | FBN1 | c.4685G>A (p.Cys1562Tyr) n.3359G>A c.*448G>A (n.*448G>A) | ClinVar |
| 15 | g.48468001A= | CA2175518225 | FBN1 | c.4684T= (p.Cys1562=) n.3358T= c.*447T= (n.*447T=) | |
| 15 | g.48468001A>C | CA392352977 | FBN1 | c.4684T>G (p.Cys1562Gly) n.3358T>G c.*447T>G (n.*447T>G) | |
| 15 | g.48468001A>G | CA392352978 | FBN1 | c.4684T>C (p.Cys1562Arg) n.3358T>C c.*447T>C (n.*447T>C) | ClinVar dbSNP |
| 15 | g.48468001A>T | CA015315 | FBN1 | c.4684T>A (p.Cys1562Ser) n.3358T>A c.*447T>A (n.*447T>A) | ClinVar dbSNP |
| 15 | g.48468002G>A | CA015306 | FBN1 | c.4683C>T (p.Ser1561=) n.3357C>T c.*446C>T (n.*446C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468002G>C | CA490027149 | FBN1 | c.4683C>G (p.Ser1561=) n.3357C>G c.*446C>G (n.*446C>G) | |
| 15 | g.48468002G= | CA2175518226 | FBN1 | c.4683C= (p.Ser1561=) n.3357C= c.*446C= (n.*446C=) | |
| 15 | g.48468002G>T | CA490027150 | FBN1 | c.4683C>A (p.Ser1561=) n.3357C>A c.*446C>A (n.*446C>A) | |
| 15 | g.48468003G>A | CA392352979 | FBN1 | c.4682C>T (p.Ser1561Phe) n.3356C>T c.*445C>T (n.*445C>T) | COSMIC |
| 15 | g.48468003G>C | CA392352980 | FBN1 | c.4682C>G (p.Ser1561Cys) n.3356C>G c.*445C>G (n.*445C>G) | |
| 15 | g.48468003G>T | CA392352981 | FBN1 | c.4682C>A (p.Ser1561Tyr) n.3356C>A c.*445C>A (n.*445C>A) | |
| 15 | g.48468004A>C | CA392352982 | FBN1 | c.4681T>G (p.Ser1561Ala) n.3355T>G c.*444T>G (n.*444T>G) | |
| 15 | g.48468004A>G | CA392352983 | FBN1 | c.4681T>C (p.Ser1561Pro) n.3355T>C c.*444T>C (n.*444T>C) | |
| 15 | g.48468004A>T | CA392352984 | FBN1 | c.4681T>A (p.Ser1561Thr) n.3355T>A c.*444T>A (n.*444T>A) | |
| 15 | g.48468005A= | CA2175518227 | FBN1 | c.4680T= (p.Ala1560=) n.3354T= c.*443T= (n.*443T=) | |
| 15 | g.48468005A>C | CA490027151 | FBN1 | c.4680T>G (p.Ala1560=) n.3354T>G c.*443T>G (n.*443T>G) | |
| 15 | g.48468005A>G | CA490027152 | FBN1 | c.4680T>C (p.Ala1560=) n.3354T>C c.*443T>C (n.*443T>C) | ClinVar dbSNP |
| 15 | g.48468005A>T | CA490027153 | FBN1 | c.4680T>A (p.Ala1560=) n.3354T>A c.*443T>A (n.*443T>A) | |
| 15 | g.48468006G>A | CA392352986 | FBN1 | c.4679C>T (p.Ala1560Val) n.3353C>T c.*442C>T (n.*442C>T) | ClinVar gnomAD v4 |
| 15 | g.48468006G>C | CA392352987 | FBN1 | c.4679C>G (p.Ala1560Gly) n.3353C>G c.*442C>G (n.*442C>G) | gnomAD v4 |
| 15 | g.48468006G>T | CA392352985 | FBN1 | c.4679C>A (p.Ala1560Asp) n.3353C>A c.*442C>A (n.*442C>A) | |
| 15 | g.48468007C>A | CA392352988 | FBN1 | c.4678G>T (p.Ala1560Ser) n.3352G>T c.*441G>T (n.*441G>T) | |
| 15 | g.48468007C= | CA2175518228 | FBN1 | c.4678G= (p.Ala1560=) n.3352G= c.*441G= (n.*441G=) | |
| 15 | g.48468007C>G | CA053517 | FBN1 | c.4678G>C (p.Ala1560Pro) n.3352G>C c.*441G>C (n.*441G>C) | ClinVar dbSNP ExAC |
| 15 | g.48468007C>T | CA392352989 | FBN1 | c.4678G>A (p.Ala1560Thr) n.3352G>A c.*441G>A (n.*441G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468008T>A | CA392352990 | FBN1 | c.4677A>T (p.Lys1559Asn) n.3351A>T c.*440A>T (n.*440A>T) | |
| 15 | g.48468008T>C | CA490027154 | FBN1 | c.4677A>G (p.Lys1559=) n.3351A>G c.*440A>G (n.*440A>G) | |
| 15 | g.48468008T>G | CA392352991 | FBN1 | c.4677A>C (p.Lys1559Asn) n.3351A>C c.*440A>C (n.*440A>C) | |
| 15 | g.48468009T>A | CA392352994 | FBN1 | c.4676A>T (p.Lys1559Ile) n.3350A>T c.*439A>T (n.*439A>T) | |
| 15 | g.48468009T>C | CA392352993 | FBN1 | c.4676A>G (p.Lys1559Arg) n.3350A>G c.*439A>G (n.*439A>G) | gnomAD v4 |
| 15 | g.48468009T>G | CA392352992 | FBN1 | c.4676A>C (p.Lys1559Thr) n.3350A>C c.*439A>C (n.*439A>C) | |
| 15 | g.48468010T>A | CA392352995 | FBN1 | c.4675A>T (p.Lys1559Ter) n.3349A>T c.*438A>T (n.*438A>T) | |
| 15 | g.48468010T>C | CA392352996 | FBN1 | c.4675A>G (p.Lys1559Glu) n.3349A>G c.*438A>G (n.*438A>G) | |
| 15 | g.48468010T>G | CA392352997 | FBN1 | c.4675A>C (p.Lys1559Gln) n.3349A>C c.*438A>C (n.*438A>C) | |
| 15 | g.48468011G>A | CA490027157 | FBN1 | c.4674C>T (p.Ser1558=) n.3348C>T c.*437C>T (n.*437C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468011G>C | CA490027156 | FBN1 | c.4674C>G (p.Ser1558=) n.3348C>G c.*437C>G (n.*437C>G) | |
| 15 | g.48468011G= | CA2175518229 | FBN1 | c.4674C= (p.Ser1558=) n.3348C= c.*437C= (n.*437C=) | |
| 15 | g.48468011G>T | CA490027155 | FBN1 | c.4674C>A (p.Ser1558=) n.3348C>A c.*437C>A (n.*437C>A) | |
| 15 | g.48468012G>A | CA392352998 | FBN1 | c.4673C>T (p.Ser1558Phe) n.3347C>T c.*436C>T (n.*436C>T) | |
| 15 | g.48468012G>C | CA392352999 | FBN1 | c.4673C>G (p.Ser1558Cys) n.3347C>G c.*436C>G (n.*436C>G) | |
| 15 | g.48468012G>T | CA392353000 | FBN1 | c.4673C>A (p.Ser1558Tyr) n.3347C>A c.*436C>A (n.*436C>A) | |
| 15 | g.48468013A>C | CA392353001 | FBN1 | c.4672T>G (p.Ser1558Ala) n.3346T>G c.*435T>G (n.*435T>G) | |
| 15 | g.48468013A>G | CA392353003 | FBN1 | c.4672T>C (p.Ser1558Pro) n.3346T>C c.*435T>C (n.*435T>C) | gnomAD v4 |
| 15 | g.48468013A>T | CA392353002 | FBN1 | c.4672T>A (p.Ser1558Thr) n.3346T>A c.*435T>A (n.*435T>A) | |
| 15 | g.48468014A= | CA2175518230 | FBN1 | c.4671T= (p.Val1557=) n.3345T= c.*434T= (n.*434T=) | |
| 15 | g.48468014A>C | CA490027158 | FBN1 | c.4671T>G (p.Val1557=) n.3345T>G c.*434T>G (n.*434T>G) | |
| 15 | g.48468014A>G | CA269551692 | FBN1 | c.4671T>C (p.Val1557=) n.3345T>C c.*434T>C (n.*434T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468014A>T | CA490027159 | FBN1 | c.4671T>A (p.Val1557=) n.3345T>A c.*434T>A (n.*434T>A) | |
| 15 | g.48468015A>C | CA392353004 | FBN1 | c.4670T>G (p.Val1557Gly) n.3344T>G c.*433T>G (n.*433T>G) | |
| 15 | g.48468015A>G | CA392353005 | FBN1 | c.4670T>C (p.Val1557Ala) n.3344T>C c.*433T>C (n.*433T>C) | |
| 15 | g.48468015A>T | CA392353006 | FBN1 | c.4670T>A (p.Val1557Asp) n.3344T>A c.*433T>A (n.*433T>A) | |
| 15 | g.48468016C>A | CA392353007 | FBN1 | c.4669G>T (p.Val1557Phe) n.3343G>T c.*432G>T (n.*432G>T) | |
| 15 | g.48468016C= | CA2175518231 | FBN1 | c.4669G= (p.Val1557=) n.3343G= c.*432G= (n.*432G=) | |
| 15 | g.48468016C>G | CA269551693 | FBN1 | c.4669G>C (p.Val1557Leu) n.3343G>C c.*432G>C (n.*432G>C) | dbSNP |
| 15 | g.48468016C>T | CA392353008 | FBN1 | c.4669G>A (p.Val1557Ile) n.3343G>A c.*432G>A (n.*432G>A) | |
| 15 | g.48468016_48468020delinsCACCA | CA2175518232 | FBN1 | c.4665_4669delinsTGGTG (p.Val1555=) n.3339_3343delinsTGGTG c.*428_*432delinsTGGTG (n.*428_*432delinsTGGTG) | |
| 15 | g.48468017A>C | CA490027160 | FBN1 | c.4668T>G (p.Gly1556=) n.3342T>G c.*431T>G (n.*431T>G) | |
| 15 | g.48468017A>G | CA490027161 | FBN1 | c.4668T>C (p.Gly1556=) n.3342T>C c.*431T>C (n.*431T>C) | |
| 15 | g.48468017A>T | CA490027162 | FBN1 | c.4668T>A (p.Gly1556=) n.3342T>A c.*431T>A (n.*431T>A) | |
| 15 | g.48468019_48468022del | CA658824314 | FBN1 | c.4665_4668del (p.Gly1556PhefsTer24) n.3339_3342del c.*428_*431del (n.*428_*431del) | ClinVar dbSNP |
| 15 | g.48468018C>A | CA392353009 | FBN1 | c.4667G>T (p.Gly1556Val) n.3341G>T c.*430G>T (n.*430G>T) | |
| 15 | g.48468018C>G | CA392353010 | FBN1 | c.4667G>C (p.Gly1556Ala) n.3341G>C c.*430G>C (n.*430G>C) | |
| 15 | g.48468018C>T | CA392353011 | FBN1 | c.4667G>A (p.Gly1556Asp) n.3341G>A c.*430G>A (n.*430G>A) | gnomAD v4 |
| 15 | g.48468019C>A | CA392353012 | FBN1 | c.4666G>T (p.Gly1556Cys) n.3340G>T c.*429G>T (n.*429G>T) | |
| 15 | g.48468019C= | CA2175518233 | FBN1 | c.4666G= (p.Gly1556=) n.3340G= c.*429G= (n.*429G=) | |
| 15 | g.48468019C>G | CA392353013 | FBN1 | c.4666G>C (p.Gly1556Arg) n.3340G>C c.*429G>C (n.*429G>C) | |
| 15 | g.48468019C>T | CA053505 | FBN1 | c.4666G>A (p.Gly1556Ser) n.3340G>A c.*429G>A (n.*429G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468019_48468020dup | CA2695220593 | FBN1 | c.4665_4666dup (p.Gly1556ValfsTer26) n.3339_3340dup c.*428_*429dup (n.*428_*429dup) | |
| 15 | g.48468020A= | CA2175518234 | FBN1 | c.4665T= (p.Val1555=) n.3339T= c.*428T= (n.*428T=) | |
| 15 | g.48468020A>C | CA490027163 | FBN1 | c.4665T>G (p.Val1555=) n.3339T>G c.*428T>G (n.*428T>G) | |
| 15 | g.48468020A>G | CA053498 | FBN1 | c.4665T>C (p.Val1555=) n.3339T>C c.*428T>C (n.*428T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468020A>T | CA490027164 | FBN1 | c.4665T>A (p.Val1555=) n.3339T>A c.*428T>A (n.*428T>A) | |
| 15 | g.48468021A>C | CA392353015 | FBN1 | c.4664T>G (p.Val1555Gly) n.3338T>G c.*427T>G (n.*427T>G) | gnomAD v4 |
| 15 | g.48468021A>G | CA392353014 | FBN1 | c.4664T>C (p.Val1555Ala) n.3338T>C c.*427T>C (n.*427T>C) | ClinVar gnomAD v4 |
| 15 | g.48468021A>T | CA392353016 | FBN1 | c.4664T>A (p.Val1555Asp) n.3338T>A c.*427T>A (n.*427T>A) | |
| 15 | g.48468022C>A | CA392353017 | FBN1 | c.4663G>T (p.Val1555Phe) n.3337G>T c.*426G>T (n.*426G>T) | COSMIC |
| 15 | g.48468022C= | CA2175518235 | FBN1 | c.4663G= (p.Val1555=) n.3337G= c.*426G= (n.*426G=) | |
| 15 | g.48468022C>G | CA392353018 | FBN1 | c.4663G>C (p.Val1555Leu) n.3337G>C c.*426G>C (n.*426G>C) | ClinVar dbSNP |
| 15 | g.48468022C>T | CA053486 | FBN1 | c.4663G>A (p.Val1555Ile) n.3337G>A c.*426G>A (n.*426G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468023T>A | CA490027165 | FBN1 | c.4662A>T (p.Gly1554=) n.3336A>T c.*425A>T (n.*425A>T) | |
| 15 | g.48468023T>C | CA490027166 | FBN1 | c.4662A>G (p.Gly1554=) n.3336A>G c.*425A>G (n.*425A>G) | |
| 15 | g.48468023T>G | CA490027167 | FBN1 | c.4662A>C (p.Gly1554=) n.3336A>C c.*425A>C (n.*425A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468023T= | CA2175518236 | FBN1 | c.4662A= (p.Gly1554=) n.3336A= c.*425A= (n.*425A=) | |
| 15 | g.48468024C>A | CA392353019 | FBN1 | c.4661G>T (p.Gly1554Val) n.3335G>T c.*424G>T (n.*424G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468024C= | CA2175518237 | FBN1 | c.4661G= (p.Gly1554=) n.3335G= c.*424G= (n.*424G=) | |
| 15 | g.48468024C>G | CA392353020 | FBN1 | c.4661G>C (p.Gly1554Ala) n.3335G>C c.*424G>C (n.*424G>C) | |
| 15 | g.48468024C>T | CA392353021 | FBN1 | c.4661G>A (p.Gly1554Glu) n.3335G>A c.*424G>A (n.*424G>A) | ClinVar |
| 15 | g.48468025dup | CA2695220594 | FBN1 | c.4661dup (p.Val1555SerfsTer14) n.3335dup c.*424dup (n.*424dup) | |
| 15 | g.48468025C>A | CA392353022 | FBN1 | c.4660G>T (p.Gly1554Ter) n.3334G>T c.*423G>T (n.*423G>T) | ClinVar dbSNP |
| 15 | g.48468025C= | CA2175518238 | FBN1 | c.4660G= (p.Gly1554=) n.3334G= c.*423G= (n.*423G=) | |
| 15 | g.48468025C>G | CA392353023 | FBN1 | c.4660G>C (p.Gly1554Arg) n.3334G>C c.*423G>C (n.*423G>C) | |
| 15 | g.48468025C>T | CA392353024 | FBN1 | c.4660G>A (p.Gly1554Arg) n.3334G>A c.*423G>A (n.*423G>A) | gnomAD v4 |
| 15 | g.48468026A>C | CA392353025 | FBN1 | c.4659T>G (p.Ile1553Met) n.3333T>G c.*422T>G (n.*422T>G) | |
| 15 | g.48468026A>G | CA490027168 | FBN1 | c.4659T>C (p.Ile1553=) n.3333T>C c.*422T>C (n.*422T>C) | |
| 15 | g.48468026A>T | CA490027169 | FBN1 | c.4659T>A (p.Ile1553=) n.3333T>A c.*422T>A (n.*422T>A) | gnomAD v4 |
| 15 | g.48468027A>C | CA392353026 | FBN1 | c.4658T>G (p.Ile1553Ser) n.3332T>G c.*421T>G (n.*421T>G) | |
| 15 | g.48468027A>G | CA392353027 | FBN1 | c.4658T>C (p.Ile1553Thr) n.3332T>C c.*421T>C (n.*421T>C) | gnomAD v4 |
| 15 | g.48468027A>T | CA392353028 | FBN1 | c.4658T>A (p.Ile1553Asn) n.3332T>A c.*421T>A (n.*421T>A) | |
| 15 | g.48468027_48468028del | CA1139532860 | FBN1 | c.4657_4658del (p.Ile1553TrpfsTer15) n.3331_3332del c.*420_*421del (n.*420_*421del) | ClinVar |
| 15 | g.48468028T>A | CA392353031 | FBN1 | c.4657A>T (p.Ile1553Phe) n.3331A>T c.*420A>T (n.*420A>T) | |
| 15 | g.48468028T>C | CA392353029 | FBN1 | c.4657A>G (p.Ile1553Val) n.3331A>G c.*420A>G (n.*420A>G) | |
| 15 | g.48468028T>G | CA392353030 | FBN1 | c.4657A>C (p.Ile1553Leu) n.3331A>C c.*420A>C (n.*420A>C) | |
| 15 | g.48468029T>A | CA392353032 | FBN1 | c.4656A>T (p.Glu1552Asp) n.3330A>T c.*419A>T (n.*419A>T) | gnomAD v4 |
| 15 | g.48468029T>C | CA053477 | FBN1 | c.4656A>G (p.Glu1552=) n.3330A>G c.*419A>G (n.*419A>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 15 | g.48468029T>G | CA392353033 | FBN1 | c.4656A>C (p.Glu1552Asp) n.3330A>C c.*419A>C (n.*419A>C) | |
| 15 | g.48468029T= | CA2175518239 | FBN1 | c.4656A= (p.Glu1552=) n.3330A= c.*419A= (n.*419A=) | |
| 15 | g.48468030T>A | CA392353034 | FBN1 | c.4655A>T (p.Glu1552Val) n.3329A>T c.*418A>T (n.*418A>T) | |
| 15 | g.48468030T>C | CA392353035 | FBN1 | c.4655A>G (p.Glu1552Gly) n.3329A>G c.*418A>G (n.*418A>G) | |
| 15 | g.48468030T>G | CA392353036 | FBN1 | c.4655A>C (p.Glu1552Ala) n.3329A>C c.*418A>C (n.*418A>C) | |
| 15 | g.48468031C>A | CA392353037 | FBN1 | c.4654G>T (p.Glu1552Ter) n.3328G>T c.*417G>T (n.*417G>T) | |
| 15 | g.48468031C>G | CA392353038 | FBN1 | c.4654G>C (p.Glu1552Gln) n.3328G>C c.*417G>C (n.*417G>C) | |
| 15 | g.48468031C>T | CA392353039 | FBN1 | c.4654G>A (p.Glu1552Lys) n.3328G>A c.*417G>A (n.*417G>A) | COSMIC |
| 15 | g.48468032A>C | CA392353040 | FBN1 | c.4653T>G (p.Asn1551Lys) n.3327T>G c.*416T>G (n.*416T>G) | |
| 15 | g.48468032A>G | CA490027170 | FBN1 | c.4653T>C (p.Asn1551=) n.3327T>C c.*416T>C (n.*416T>C) | |
| 15 | g.48468032A>T | CA392353041 | FBN1 | c.4653T>A (p.Asn1551Lys) n.3327T>A c.*416T>A (n.*416T>A) | gnomAD v4 |
| 15 | g.48468033T>A | CA392353044 | FBN1 | c.4652A>T (p.Asn1551Ile) n.3326A>T c.*415A>T (n.*415A>T) | ClinVar |
| 15 | g.48468033T>C | CA392353043 | FBN1 | c.4652A>G (p.Asn1551Ser) n.3326A>G c.*415A>G (n.*415A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468033T>G | CA392353042 | FBN1 | c.4652A>C (p.Asn1551Thr) n.3326A>C c.*415A>C (n.*415A>C) | |
| 15 | g.48468033T= | CA2175518240 | FBN1 | c.4652A= (p.Asn1551=) n.3326A= c.*415A= (n.*415A=) | |
| 15 | g.48468034T>A | CA392353045 | FBN1 | c.4651A>T (p.Asn1551Tyr) n.3325A>T c.*414A>T (n.*414A>T) | |
| 15 | g.48468034T>C | CA392353046 | FBN1 | c.4651A>G (p.Asn1551Asp) n.3325A>G c.*414A>G (n.*414A>G) | |
| 15 | g.48468034T>G | CA392353047 | FBN1 | c.4651A>C (p.Asn1551His) n.3325A>C c.*414A>C (n.*414A>C) | |
| 15 | g.48468035G>A | CA269551704 | FBN1 | c.4650C>T (p.Ser1550=) n.3324C>T c.*413C>T (n.*413C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468035G>C | CA392353048 | FBN1 | c.4650C>G (p.Ser1550Arg) n.3324C>G c.*413C>G (n.*413C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468035G= | CA2175518241 | FBN1 | c.4650C= (p.Ser1550=) n.3324C= c.*413C= (n.*413C=) | |
| 15 | g.48468035G>T | CA392353049 | FBN1 | c.4650C>A (p.Ser1550Arg) n.3324C>A c.*413C>A (n.*413C>A) | |
| 15 | g.48468035_48468036delinsGC | CA2175518242 | FBN1 | c.4649_4650delinsGC (p.Ser1550=) n.3323_3324delinsGC c.*412_*413delinsGC (n.*412_*413delinsGC) | |
| 15 | g.48468036del | CA915945994 | FBN1 | c.4649del (p.Ser1550ThrfsTer?) n.3323del c.*412del (n.*412del) | ClinVar dbSNP |
| 15 | g.48468036C>A | CA392353050 | FBN1 | c.4649G>T (p.Ser1550Ile) n.3323G>T c.*412G>T (n.*412G>T) | |
| 15 | g.48468036C>G | CA392353051 | FBN1 | c.4649G>C (p.Ser1550Thr) n.3323G>C c.*412G>C (n.*412G>C) | |
| 15 | g.48468036C>T | CA392353052 | FBN1 | c.4649G>A (p.Ser1550Asn) n.3323G>A c.*412G>A (n.*412G>A) | gnomAD v4 |
| 15 | g.48468037T>A | CA015272 | FBN1 | c.4648A>T (p.Ser1550Cys) n.3322A>T c.*411A>T (n.*411A>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468037T>C | CA392353053 | FBN1 | c.4648A>G (p.Ser1550Gly) n.3322A>G c.*411A>G (n.*411A>G) | |
| 15 | g.48468037T>G | CA392353054 | FBN1 | c.4648A>C (p.Ser1550Arg) n.3322A>C c.*411A>C (n.*411A>C) | |
| 15 | g.48468037T= | CA2175518243 | FBN1 | c.4648A= (p.Ser1550=) n.3322A= c.*411A= (n.*411A=) | |
| 15 | g.48468038G>A | CA490027171 | FBN1 | c.4647C>T (p.Cys1549=) n.3321C>T c.*410C>T (n.*410C>T) | |
| 15 | g.48468038G>C | CA392353055 | FBN1 | c.4647C>G (p.Cys1549Trp) n.3321C>G c.*410C>G (n.*410C>G) | |
| 15 | g.48468038G>T | CA392353056 | FBN1 | c.4647C>A (p.Cys1549Ter) n.3321C>A c.*410C>A (n.*410C>A) | |
| 15 | g.48468039C>A | CA392353059 | FBN1 | c.4646G>T (p.Cys1549Phe) n.3320G>T c.*409G>T (n.*409G>T) | |
| 15 | g.48468039C>G | CA392353057 | FBN1 | c.4646G>C (p.Cys1549Ser) n.3320G>C c.*409G>C (n.*409G>C) | |
| 15 | g.48468039C>T | CA392353058 | FBN1 | c.4646G>A (p.Cys1549Tyr) n.3320G>A c.*409G>A (n.*409G>A) | |
| 15 | g.48468040A>C | CA392353060 | FBN1 | c.4645T>G (p.Cys1549Gly) n.3319T>G c.*408T>G (n.*408T>G) | |
| 15 | g.48468040A>G | CA392353061 | FBN1 | c.4645T>C (p.Cys1549Arg) n.3319T>C c.*408T>C (n.*408T>C) | |
| 15 | g.48468040A>T | CA392353062 | FBN1 | c.4645T>A (p.Cys1549Ser) n.3319T>A c.*408T>A (n.*408T>A) | |
| 15 | g.48468041G>A | CA490027174 | FBN1 | c.4644C>T (p.Ala1548=) n.3318C>T c.*407C>T (n.*407C>T) | gnomAD v4 |
| 15 | g.48468041G>C | CA490027172 | FBN1 | c.4644C>G (p.Ala1548=) n.3318C>G c.*407C>G (n.*407C>G) | |
| 15 | g.48468041G>T | CA490027173 | FBN1 | c.4644C>A (p.Ala1548=) n.3318C>A c.*407C>A (n.*407C>A) | |
| 15 | g.48468042G>A | CA392353063 | FBN1 | c.4643C>T (p.Ala1548Val) n.3317C>T c.*406C>T (n.*406C>T) | |
| 15 | g.48468042G>C | CA392353064 | FBN1 | c.4643C>G (p.Ala1548Gly) n.3317C>G c.*406C>G (n.*406C>G) | ClinVar dbSNP |
| 15 | g.48468042G>T | CA392353065 | FBN1 | c.4643C>A (p.Ala1548Asp) n.3317C>A c.*406C>A (n.*406C>A) | |
| 15 | g.48468043C>A | CA392353066 | FBN1 | c.4642G>T (p.Ala1548Ser) n.3316G>T c.*405G>T (n.*405G>T) | |
| 15 | g.48468043C>G | CA392353067 | FBN1 | c.4642G>C (p.Ala1548Pro) n.3316G>C c.*405G>C (n.*405G>C) | |
| 15 | g.48468043C>T | CA392353068 | FBN1 | c.4642G>A (p.Ala1548Thr) n.3316G>A c.*405G>A (n.*405G>A) | |
| 15 | g.48468043_48468045delinsCTG | CA2175518244 | FBN1 | c.4640_4642delinsCAG (p.Thr1547=) n.3314_3316delinsCAG c.*403_*405delinsCAG (n.*403_*405delinsCAG) | |
| 15 | g.48468044T>A | CA490027175 | FBN1 | c.4641A>T (p.Thr1547=) n.3315A>T c.*404A>T (n.*404A>T) | |
| 15 | g.48468044T>C | CA490027176 | FBN1 | c.4641A>G (p.Thr1547=) n.3315A>G c.*404A>G (n.*404A>G) | |
| 15 | g.48468044T>G | CA490027177 | FBN1 | c.4641A>C (p.Thr1547=) n.3315A>C c.*404A>C (n.*404A>C) | |
| 15 | g.48468045_48468046del | CA658683895 | FBN1 | c.4640_4641del (p.Thr1547SerfsTer5) n.3314_3315del c.*403_*404del (n.*403_*404del) | ClinVar dbSNP |
| 15 | g.48468045G>A | CA015264 | FBN1 | c.4640C>T (p.Thr1547Ile) n.3314C>T c.*403C>T (n.*403C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468045G>C | CA392353069 | FBN1 | c.4640C>G (p.Thr1547Arg) n.3314C>G c.*403C>G (n.*403C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468045G= | CA2175518245 | FBN1 | c.4640C= (p.Thr1547=) n.3314C= c.*403C= (n.*403C=) | |
| 15 | g.48468045G>T | CA392353070 | FBN1 | c.4640C>A (p.Thr1547Lys) n.3314C>A c.*403C>A (n.*403C>A) | |
| 15 | g.48468046T>A | CA392353072 | FBN1 | c.4639A>T (p.Thr1547Ser) n.3313A>T c.*402A>T (n.*402A>T) | |
| 15 | g.48468046T>C | CA392353073 | FBN1 | c.4639A>G (p.Thr1547Ala) n.3313A>G c.*402A>G (n.*402A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468046T>G | CA392353071 | FBN1 | c.4639A>C (p.Thr1547Pro) n.3313A>C c.*402A>C (n.*402A>C) | |
| 15 | g.48468046T= | CA2175518246 | FBN1 | c.4639A= (p.Thr1547=) n.3313A= c.*402A= (n.*402A=) | |
| 15 | g.48468046dup | CA915945995 | FBN1 | c.4639dup (p.Thr1547AsnfsTer6) n.3313dup c.*402dup (n.*402dup) | ClinVar dbSNP |
| 15 | g.48468047A>C | CA392353074 | FBN1 | c.4638T>G (p.Asp1546Glu) n.3312T>G c.*401T>G (n.*401T>G) | |
| 15 | g.48468047A>G | CA490027178 | FBN1 | c.4638T>C (p.Asp1546=) n.3312T>C c.*401T>C (n.*401T>C) | |
| 15 | g.48468047A>T | CA392353075 | FBN1 | c.4638T>A (p.Asp1546Glu) n.3312T>A c.*401T>A (n.*401T>A) | |
| 15 | g.48468048T>A | CA392353076 | FBN1 | c.4637A>T (p.Asp1546Val) n.3311A>T c.*400A>T (n.*400A>T) | |
| 15 | g.48468048T>C | CA392353078 | FBN1 | c.4637A>G (p.Asp1546Gly) n.3311A>G c.*400A>G (n.*400A>G) | |
| 15 | g.48468048T>G | CA392353077 | FBN1 | c.4637A>C (p.Asp1546Ala) n.3311A>C c.*400A>C (n.*400A>C) | |
| 15 | g.48468049C>A | CA392353079 | FBN1 | c.4636G>T (p.Asp1546Tyr) n.3310G>T c.*399G>T (n.*399G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468049C= | CA2175518247 | FBN1 | c.4636G= (p.Asp1546=) n.3310G= c.*399G= (n.*399G=) | |
| 15 | g.48468049C>G | CA392353080 | FBN1 | c.4636G>C (p.Asp1546His) n.3310G>C c.*399G>C (n.*399G>C) | |
| 15 | g.48468049C>T | CA392353081 | FBN1 | c.4636G>A (p.Asp1546Asn) n.3310G>A c.*399G>A (n.*399G>A) | |
| 15 | g.48468050del | CA2695220595 | FBN1 | c.4635del (p.Asp1546IlefsTer?) n.3309del c.*398del (n.*398del) | |
| 15 | g.48468050T>A | CA490027179 | FBN1 | c.4635A>T (p.Gly1545=) n.3309A>T c.*398A>T (n.*398A>T) | ClinVar dbSNP |
| 15 | g.48468050T>C | CA490027180 | FBN1 | c.4635A>G (p.Gly1545=) n.3309A>G c.*398A>G (n.*398A>G) | |
| 15 | g.48468050T>G | CA490027181 | FBN1 | c.4635A>C (p.Gly1545=) n.3309A>C c.*398A>C (n.*398A>C) | |
| 15 | g.48468050T= | CA2175518248 | FBN1 | c.4635A= (p.Gly1545=) n.3309A= c.*398A= (n.*398A=) | |
| 15 | g.48468051C>A | CA392353082 | FBN1 | c.4634G>T (p.Gly1545Val) n.3308G>T c.*397G>T (n.*397G>T) | |
| 15 | g.48468051C>G | CA392353083 | FBN1 | c.4634G>C (p.Gly1545Ala) n.3308G>C c.*397G>C (n.*397G>C) | |
| 15 | g.48468051C>T | CA392353084 | FBN1 | c.4634G>A (p.Gly1545Glu) n.3308G>A c.*397G>A (n.*397G>A) | gnomAD v4 |
| 15 | g.48468052C>A | CA392353087 | FBN1 | c.4633G>T (p.Gly1545Ter) n.3307G>T c.*396G>T (n.*396G>T) | |
| 15 | g.48468052C>G | CA392353085 | FBN1 | c.4633G>C (p.Gly1545Arg) n.3307G>C c.*396G>C (n.*396G>C) | |
| 15 | g.48468052C>T | CA392353086 | FBN1 | c.4633G>A (p.Gly1545Arg) n.3307G>A c.*396G>A (n.*396G>A) | |
| 15 | g.48468053A>C | CA392353088 | FBN1 | c.4632T>G (p.Asn1544Lys) n.3306T>G c.*395T>G (n.*395T>G) | gnomAD v4 |
| 15 | g.48468053A>G | CA490027182 | FBN1 | c.4632T>C (p.Asn1544=) n.3306T>C c.*395T>C (n.*395T>C) | |
| 15 | g.48468053A>T | CA392353089 | FBN1 | c.4632T>A (p.Asn1544Lys) n.3306T>A c.*395T>A (n.*395T>A) | |
| 15 | g.48468054T>A | CA392353090 | FBN1 | c.4631A>T (p.Asn1544Ile) n.3305A>T c.*394A>T (n.*394A>T) | |
| 15 | g.48468054T>C | CA053464 | FBN1 | c.4631A>G (p.Asn1544Ser) n.3305A>G c.*394A>G (n.*394A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468054T>G | CA392353091 | FBN1 | c.4631A>C (p.Asn1544Thr) n.3305A>C c.*394A>C (n.*394A>C) | |
| 15 | g.48468054T= | CA2175518249 | FBN1 | c.4631A= (p.Asn1544=) n.3305A= c.*394A= (n.*394A=) | |
| 15 | g.48468055T>A | CA392353092 | FBN1 | c.4630A>T (p.Asn1544Tyr) n.3304A>T c.*393A>T (n.*393A>T) | gnomAD v4 |
| 15 | g.48468055T>C | CA392353093 | FBN1 | c.4630A>G (p.Asn1544Asp) n.3304A>G c.*393A>G (n.*393A>G) | |
| 15 | g.48468055T>G | CA053460 | FBN1 | c.4630A>C (p.Asn1544His) n.3304A>C c.*393A>C (n.*393A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48468055T= | CA2175518250 | FBN1 | c.4630A= (p.Asn1544=) n.3304A= c.*393A= (n.*393A=) | |
| 15 | g.48468055_48468056delinsTG | CA2175518251 | FBN1 | c.4629_4630delinsCA (p.Asp1543=) n.3303_3304delinsCA c.*392_*393delinsCA (n.*392_*393delinsCA) | |
| 15 | g.48468056del | CA1139663947 | FBN1 | c.4629del (p.Asp1543GlufsTer?) n.3303del c.*392del (n.*392del) | ClinVar dbSNP |
| 15 | g.48468056G>A | CA490027183 | FBN1 | c.4629C>T (p.Asp1543=) n.3303C>T c.*392C>T (n.*392C>T) | dbSNP gnomAD v4 |
| 15 | g.48468056G>C | CA392353094 | FBN1 | c.4629C>G (p.Asp1543Glu) n.3303C>G c.*392C>G (n.*392C>G) | |
| 15 | g.48468056G= | CA2175518252 | FBN1 | c.4629C= (p.Asp1543=) n.3303C= c.*392C= (n.*392C=) | |
| 15 | g.48468056G>T | CA392353095 | FBN1 | c.4629C>A (p.Asp1543Glu) n.3303C>A c.*392C>A (n.*392C>A) | |
| 15 | g.48468057T>A | CA392353096 | FBN1 | c.4628A>T (p.Asp1543Val) n.3302A>T c.*391A>T (n.*391A>T) | |
| 15 | g.48468057T>C | CA392353097 | FBN1 | c.4628A>G (p.Asp1543Gly) n.3302A>G c.*391A>G (n.*391A>G) | |
| 15 | g.48468057T>G | CA392353098 | FBN1 | c.4628A>C (p.Asp1543Ala) n.3302A>C c.*391A>C (n.*391A>C) | |
| 15 | g.48468058C>A | CA392353099 | FBN1 | c.4627G>T (p.Asp1543Tyr) n.3301G>T c.*390G>T (n.*390G>T) | |
| 15 | g.48468058C>G | CA392353100 | FBN1 | c.4627G>C (p.Asp1543His) n.3301G>C c.*390G>C (n.*390G>C) | |
| 15 | g.48468058C>T | CA392353101 | FBN1 | c.4627G>A (p.Asp1543Asn) n.3301G>A c.*390G>A (n.*390G>A) | |
| 15 | g.48468058_48468060delinsCTC | CA2175518253 | FBN1 | c.4625_4627delinsGAG (p.Gly1542=) n.3299_3301delinsGAG c.*388_*390delinsGAG (n.*388_*390delinsGAG) | |
| 15 | g.48468059T>A | CA490027184 | FBN1 | c.4626A>T (p.Gly1542=) n.3300A>T c.*389A>T (n.*389A>T) | |
| 15 | g.48468059T>C | CA490027185 | FBN1 | c.4626A>G (p.Gly1542=) n.3300A>G c.*389A>G (n.*389A>G) | |
| 15 | g.48468059T>G | CA490027186 | FBN1 | c.4626A>C (p.Gly1542=) n.3300A>C c.*389A>C (n.*389A>C) | |
| 15 | g.48468059_48468060delinsGAATGGAGATTAT | CA1139663948 | FBN1 | c.4625_4626delinsATAATCTCCATTC (p.Gly1542AspfsTer?) n.3299_3300delinsATAATCTCCATTC c.*388_*389delinsATAATCTCCATTC (n.*388_*389delinsATAATCTCCATTC) | ClinVar dbSNP |
| 15 | g.48468060C>A | CA392353102 | FBN1 | c.4625G>T (p.Gly1542Val) n.3299G>T c.*388G>T (n.*388G>T) | gnomAD v4 |
| 15 | g.48468060C>G | CA392353103 | FBN1 | c.4625G>C (p.Gly1542Ala) n.3299G>C c.*388G>C (n.*388G>C) | |
| 15 | g.48468060C>T | CA392353104 | FBN1 | c.4625G>A (p.Gly1542Glu) n.3299G>A c.*388G>A (n.*388G>A) | |
| 15 | g.48468061C>A | CA392353105 | FBN1 | c.4624G>T (p.Gly1542Ter) n.3298G>T c.*387G>T (n.*387G>T) | |
| 15 | g.48468061C= | CA2175518254 | FBN1 | c.4624G= (p.Gly1542=) n.3298G= c.*387G= (n.*387G=) | |
| 15 | g.48468061C>G | CA392353107 | FBN1 | c.4624G>C (p.Gly1542Arg) n.3298G>C c.*387G>C (n.*387G>C) | dbSNP |
| 15 | g.48468061C>T | CA392353106 | FBN1 | c.4624G>A (p.Gly1542Arg) n.3298G>A c.*387G>A (n.*387G>A) | |
| 15 | g.48468062T>A | CA490027187 | FBN1 | c.4623A>T (p.Arg1541=) n.3297A>T c.*386A>T (n.*386A>T) | |
| 15 | g.48468062T>C | CA490027189 | FBN1 | c.4623A>G (p.Arg1541=) n.3297A>G c.*386A>G (n.*386A>G) | |
| 15 | g.48468062T>G | CA490027188 | FBN1 | c.4623A>C (p.Arg1541=) n.3297A>C c.*386A>C (n.*386A>C) | |
| 15 | g.48468066_48468071del | CA2628334338 | FBN1 | c.4618_4623del (p.Pro1540_Arg1541del) n.3292_3297del c.*381_*386del (n.*381_*386del) | gnomAD v4 |
| 15 | g.48468063C>A | CA392353108 | FBN1 | c.4622G>T (p.Arg1541Leu) n.3296G>T c.*385G>T (n.*385G>T) | |
| 15 | g.48468063C= | CA2175518255 | FBN1 | c.4622G= (p.Arg1541=) n.3296G= c.*385G= (n.*385G=) | |
| 15 | g.48468063C>G | CA392353109 | FBN1 | c.4622G>C (p.Arg1541Pro) n.3296G>C c.*385G>C (n.*385G>C) | |
| 15 | g.48468063C>T | CA053448 | FBN1 | c.4622G>A (p.Arg1541Gln) n.3296G>A c.*385G>A (n.*385G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468064G>A | CA015252 | FBN1 | c.4621C>T (p.Arg1541Ter) n.3295C>T c.*384C>T (n.*384C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468064G>C | CA392353110 | FBN1 | c.4621C>G (p.Arg1541Gly) n.3295C>G c.*384C>G (n.*384C>G) | |
| 15 | g.48468064G= | CA2175518256 | FBN1 | c.4621C= (p.Arg1541=) n.3295C= c.*384C= (n.*384C=) | |
| 15 | g.48468064G>T | CA490027190 | FBN1 | c.4621C>A (p.Arg1541=) n.3295C>A c.*384C>A (n.*384C>A) | |
| 15 | g.48468065A>C | CA490027191 | FBN1 | c.4620T>G (p.Pro1540=) n.3294T>G c.*383T>G (n.*383T>G) | ClinVar |
| 15 | g.48468065A>G | CA490027192 | FBN1 | c.4620T>C (p.Pro1540=) n.3294T>C c.*383T>C (n.*383T>C) | |
| 15 | g.48468065A>T | CA490027193 | FBN1 | c.4620T>A (p.Pro1540=) n.3294T>A c.*383T>A (n.*383T>A) | |
| 15 | g.48468065_48468069dup | CA2695220596 | FBN1 | c.4616_4620dup (p.Arg1541AspfsTer?) n.3290_3294dup c.*379_*383dup (n.*379_*383dup) | |
| 15 | g.48468066G>A | CA392353111 | FBN1 | c.4619C>T (p.Pro1540Leu) n.3293C>T c.*382C>T (n.*382C>T) | |
| 15 | g.48468066G>C | CA392353112 | FBN1 | c.4619C>G (p.Pro1540Arg) n.3293C>G c.*382C>G (n.*382C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468066G= | CA2175518257 | FBN1 | c.4619C= (p.Pro1540=) n.3293C= c.*382C= (n.*382C=) | |
| 15 | g.48468066G>T | CA392353113 | FBN1 | c.4619C>A (p.Pro1540His) n.3293C>A c.*382C>A (n.*382C>A) | |
| 15 | g.48468067G>A | CA392353114 | FBN1 | c.4618C>T (p.Pro1540Ser) n.3292C>T c.*381C>T (n.*381C>T) | |
| 15 | g.48468067G>C | CA392353115 | FBN1 | c.4618C>G (p.Pro1540Ala) n.3292C>G c.*381C>G (n.*381C>G) | |
| 15 | g.48468067G>T | CA392353116 | FBN1 | c.4618C>A (p.Pro1540Thr) n.3292C>A c.*381C>A (n.*381C>A) | |
| 15 | g.48468068T>A | CA490027194 | FBN1 | c.4617A>T (p.Arg1539=) n.3291A>T c.*380A>T (n.*380A>T) | |
| 15 | g.48468068T>C | CA490027195 | FBN1 | c.4617A>G (p.Arg1539=) n.3291A>G c.*380A>G (n.*380A>G) | ClinVar |
| 15 | g.48468068T>G | CA490027196 | FBN1 | c.4617A>C (p.Arg1539=) n.3291A>C c.*380A>C (n.*380A>C) | |
| 15 | g.48468069C>A | CA392353118 | FBN1 | c.4616G>T (p.Arg1539Leu) n.3290G>T c.*379G>T (n.*379G>T) | |
| 15 | g.48468069C= | CA2175518258 | FBN1 | c.4616G= (p.Arg1539=) n.3290G= c.*379G= (n.*379G=) | |
| 15 | g.48468069C>G | CA392353117 | FBN1 | c.4616G>C (p.Arg1539Pro) n.3290G>C c.*379G>C (n.*379G>C) | |
| 15 | g.48468069C>T | CA053441 | FBN1 | c.4616G>A (p.Arg1539Gln) n.3290G>A c.*379G>A (n.*379G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48468070G>A | CA015241 | FBN1 | c.4615C>T (p.Arg1539Ter) n.3289C>T c.*378C>T (n.*378C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48468070G>C | CA392353119 | FBN1 | c.4615C>G (p.Arg1539Gly) n.3289C>G c.*378C>G (n.*378C>G) | |
| 15 | g.48468070G= | CA2175518259 | FBN1 | c.4615C= (p.Arg1539=) n.3289C= c.*378C= (n.*378C=) | |
| 15 | g.48468070G>T | CA490027197 | FBN1 | c.4615C>A (p.Arg1539=) n.3289C>A c.*378C>A (n.*378C>A) | |
| 15 | g.48468071A>C | CA392353120 | FBN1 | c.4614T>G (p.Ile1538Met) n.3288T>G c.*377T>G (n.*377T>G) | |
| 15 | g.48468071A>G | CA490027198 | FBN1 | c.4614T>C (p.Ile1538=) n.3288T>C c.*377T>C (n.*377T>C) | |
| 15 | g.48468071A>T | CA490027199 | FBN1 | c.4614T>A (p.Ile1538=) n.3288T>A c.*377T>A (n.*377T>A) | |
| 15 | g.48468072A>C | CA392353121 | FBN1 | c.4613T>G (p.Ile1538Ser) n.3287T>G c.*376T>G (n.*376T>G) | |
| 15 | g.48468072A>G | CA392353122 | FBN1 | c.4613T>C (p.Ile1538Thr) n.3287T>C c.*376T>C (n.*376T>C) | |
| 15 | g.48468072A>T | CA392353123 | FBN1 | c.4613T>A (p.Ile1538Asn) n.3287T>A c.*376T>A (n.*376T>A) | |
| 15 | g.48468073T>A | CA392353124 | FBN1 | c.4612A>T (p.Ile1538Phe) n.3286A>T c.*375A>T (n.*375A>T) | |
| 15 | g.48468073T>C | CA392353125 | FBN1 | c.4612A>G (p.Ile1538Val) n.3286A>G c.*375A>G (n.*375A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468073T>G | CA392353126 | FBN1 | c.4612A>C (p.Ile1538Leu) n.3286A>C c.*375A>C (n.*375A>C) | |
| 15 | g.48468073T= | CA2175518260 | FBN1 | c.4612A= (p.Ile1538=) n.3286A= c.*375A= (n.*375A=) | |
| 15 | g.48468074A>C | CA392353127 | FBN1 | c.4611T>G (p.Asp1537Glu) n.3285T>G c.*374T>G (n.*374T>G) | |
| 15 | g.48468074A>G | CA490027200 | FBN1 | c.4611T>C (p.Asp1537=) n.3285T>C c.*374T>C (n.*374T>C) | |
| 15 | g.48468074A>T | CA392353128 | FBN1 | c.4611T>A (p.Asp1537Glu) n.3285T>A c.*374T>A (n.*374T>A) | |
| 15 | g.48468075T>A | CA392353130 | FBN1 | c.4610A>T (p.Asp1537Val) n.3284A>T c.*373A>T (n.*373A>T) | |
| 15 | g.48468075T>C | CA392353131 | FBN1 | c.4610A>G (p.Asp1537Gly) n.3284A>G c.*373A>G (n.*373A>G) | |
| 15 | g.48468075T>G | CA392353129 | FBN1 | c.4610A>C (p.Asp1537Ala) n.3284A>C c.*373A>C (n.*373A>C) | |
| 15 | g.48468076C>A | CA392353133 | FBN1 | c.4609G>T (p.Asp1537Tyr) n.3283G>T c.*372G>T (n.*372G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468076C= | CA2175518261 | FBN1 | c.4609G= (p.Asp1537=) n.3283G= c.*372G= (n.*372G=) | |
| 15 | g.48468076C>G | CA392353132 | FBN1 | c.4609G>C (p.Asp1537His) n.3283G>C c.*372G>C (n.*372G>C) | |
| 15 | g.48468076C>T | CA269551780 | FBN1 | c.4609G>A (p.Asp1537Asn) n.3283G>A c.*372G>A (n.*372G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468077C>A | CA392353134 | FBN1 | c.4608G>T (p.Leu1536Phe) n.3282G>T c.*371G>T (n.*371G>T) | |
| 15 | g.48468077C>G | CA392353135 | FBN1 | c.4608G>C (p.Leu1536Phe) n.3282G>C c.*371G>C (n.*371G>C) | |
| 15 | g.48468077C>T | CA490027201 | FBN1 | c.4608G>A (p.Leu1536=) n.3282G>A c.*371G>A (n.*371G>A) | |
| 15 | g.48468077_48468078delinsCA | CA2175518262 | FBN1 | c.4607_4608delinsTG (p.Leu1536=) n.3281_3282delinsTG c.*370_*371delinsTG (n.*370_*371delinsTG) | |
| 15 | g.48468078A= | CA2175518263 | FBN1 | c.4607T= (p.Leu1536=) n.3281T= c.*370T= (n.*370T=) | |
| 15 | g.48468078A>C | CA392353136 | FBN1 | c.4607T>G (p.Leu1536Trp) n.3281T>G c.*370T>G (n.*370T>G) | ClinVar dbSNP |
| 15 | g.48468078A>G | CA392353137 | FBN1 | c.4607T>C (p.Leu1536Ser) n.3281T>C c.*370T>C (n.*370T>C) | |
| 15 | g.48468078A>T | CA392353138 | FBN1 | c.4607T>A (p.Leu1536Ter) n.3281T>A c.*370T>A (n.*370T>A) | |
| 15 | g.48468080del | CA658683896 | FBN1 | c.4607del (p.Leu1536TrpfsTer?) n.3281del c.*370del (n.*370del) | ClinVar dbSNP |
| 15 | g.48468079A>C | CA392353139 | FBN1 | c.4606T>G (p.Leu1536Val) n.3280T>G c.*369T>G (n.*369T>G) | |
| 15 | g.48468079A>G | CA490027202 | FBN1 | c.4606T>C (p.Leu1536=) n.3280T>C c.*369T>C (n.*369T>C) | |
| 15 | g.48468079A>T | CA392353140 | FBN1 | c.4606T>A (p.Leu1536Met) n.3280T>A c.*369T>A (n.*369T>A) | |
| 15 | g.48468080A>C | CA392353141 | FBN1 | c.4605T>G (p.Tyr1535Ter) n.3279T>G c.*368T>G (n.*368T>G) | ClinVar |
| 15 | g.48468080A>G | CA490027203 | FBN1 | c.4605T>C (p.Tyr1535=) n.3279T>C c.*368T>C (n.*368T>C) | |
| 15 | g.48468080A>T | CA392353142 | FBN1 | c.4605T>A (p.Tyr1535Ter) n.3279T>A c.*368T>A (n.*368T>A) | |
| 15 | g.48468081T>A | CA392353145 | FBN1 | c.4604A>T (p.Tyr1535Phe) n.3278A>T c.*367A>T (n.*367A>T) | |
| 15 | g.48468081T>C | CA392353144 | FBN1 | c.4604A>G (p.Tyr1535Cys) n.3278A>G c.*367A>G (n.*367A>G) | ClinVar gnomAD v4 |
| 15 | g.48468081T>G | CA392353143 | FBN1 | c.4604A>C (p.Tyr1535Ser) n.3278A>C c.*367A>C (n.*367A>C) | |
| 15 | g.48468082A>C | CA392353146 | FBN1 | c.4603T>G (p.Tyr1535Asp) n.3277T>G c.*366T>G (n.*366T>G) | |
| 15 | g.48468082A>G | CA392353147 | FBN1 | c.4603T>C (p.Tyr1535His) n.3277T>C c.*366T>C (n.*366T>C) | |
| 15 | g.48468082A>T | CA392353148 | FBN1 | c.4603T>A (p.Tyr1535Asn) n.3277T>A c.*366T>A (n.*366T>A) | |
| 15 | g.48468083G>A | CA490027204 | FBN1 | c.4602C>T (p.Cys1534=) n.3276C>T c.*365C>T (n.*365C>T) | COSMIC |
| 15 | g.48468083G>C | CA392353149 | FBN1 | c.4602C>G (p.Cys1534Trp) n.3276C>G c.*365C>G (n.*365C>G) | ClinVar dbSNP |
| 15 | g.48468083G= | CA2175518264 | FBN1 | c.4602C= (p.Cys1534=) n.3276C= c.*365C= (n.*365C=) | |
| 15 | g.48468083G>T | CA392353150 | FBN1 | c.4602C>A (p.Cys1534Ter) n.3276C>A c.*365C>A (n.*365C>A) | |
| 15 | g.48468084C>A | CA392353151 | FBN1 | c.4601G>T (p.Cys1534Phe) n.3275G>T c.*364G>T (n.*364G>T) | |
| 15 | g.48468084C= | CA2175518265 | FBN1 | c.4601G= (p.Cys1534=) n.3275G= c.*364G= (n.*364G=) | |
| 15 | g.48468084C>G | CA269551783 | FBN1 | c.4601G>C (p.Cys1534Ser) n.3275G>C c.*364G>C (n.*364G>C) | ClinVar dbSNP |
| 15 | g.48468084C>T | CA392353152 | FBN1 | c.4601G>A (p.Cys1534Tyr) n.3275G>A c.*364G>A (n.*364G>A) | |
| 15 | g.48468085A>C | CA392353153 | FBN1 | c.4600T>G (p.Cys1534Gly) n.3274T>G c.*363T>G (n.*363T>G) | |
| 15 | g.48468085A>G | CA392353154 | FBN1 | c.4600T>C (p.Cys1534Arg) n.3274T>C c.*363T>C (n.*363T>C) | ClinVar dbSNP |
| 15 | g.48468085A>T | CA392353155 | FBN1 | c.4600T>A (p.Cys1534Ser) n.3274T>A c.*363T>A (n.*363T>A) | |
| 15 | g.48468086A>C | CA392353156 | FBN1 | c.4599T>G (p.Asn1533Lys) n.3273T>G c.*362T>G (n.*362T>G) | |
| 15 | g.48468086A>G | CA490027205 | FBN1 | c.4599T>C (p.Asn1533=) n.3273T>C c.*362T>C (n.*362T>C) | |
| 15 | g.48468086A>T | CA392353157 | FBN1 | c.4599T>A (p.Asn1533Lys) n.3273T>A c.*362T>A (n.*362T>A) | |
| 15 | g.48468087T>A | CA392353159 | FBN1 | c.4598A>T (p.Asn1533Ile) n.3272A>T c.*361A>T (n.*361A>T) | |
| 15 | g.48468087T>C | CA392353160 | FBN1 | c.4598A>G (p.Asn1533Ser) n.3272A>G c.*361A>G (n.*361A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468087T>G | CA392353158 | FBN1 | c.4598A>C (p.Asn1533Thr) n.3272A>C c.*361A>C (n.*361A>C) | |
| 15 | g.48468087T= | CA2175518266 | FBN1 | c.4598A= (p.Asn1533=) n.3272A= c.*361A= (n.*361A=) | |
| 15 | g.48468088T>A | CA392353161 | FBN1 | c.4597A>T (p.Asn1533Tyr) n.3271A>T c.*360A>T (n.*360A>T) | |
| 15 | g.48468088T>C | CA392353162 | FBN1 | c.4597A>G (p.Asn1533Asp) n.3271A>G c.*360A>G (n.*360A>G) | |
| 15 | g.48468088T>G | CA392353163 | FBN1 | c.4597A>C (p.Asn1533His) n.3271A>C c.*360A>C (n.*360A>C) | |
| 15 | g.48468089T>A | CA490027208 | FBN1 | c.4596A>T (p.Gly1532=) n.3270A>T c.*359A>T (n.*359A>T) | |
| 15 | g.48468089T>C | CA490027206 | FBN1 | c.4596A>G (p.Gly1532=) n.3270A>G c.*359A>G (n.*359A>G) | |
| 15 | g.48468089T>G | CA490027207 | FBN1 | c.4596A>C (p.Gly1532=) n.3270A>C c.*359A>C (n.*359A>C) | |
| 15 | g.48468089_48468090delinsA | CA2695220597 | FBN1 | c.4595_4596delinsT (p.Gly1532ValfsTer?) n.3269_3270delinsT c.*358_*359delinsT (n.*358_*359delinsT) | |
| 15 | g.48468090C>A | CA392353164 | FBN1 | c.4595G>T (p.Gly1532Val) n.3269G>T c.*358G>T (n.*358G>T) | dbSNP |
| 15 | g.48468090C= | CA2175518267 | FBN1 | c.4595G= (p.Gly1532=) n.3269G= c.*358G= (n.*358G=) | |
| 15 | g.48468090C>G | CA392353165 | FBN1 | c.4595G>C (p.Gly1532Ala) n.3269G>C c.*358G>C (n.*358G>C) | |
| 15 | g.48468090C>T | CA392353166 | FBN1 | c.4595G>A (p.Gly1532Glu) n.3269G>A c.*358G>A (n.*358G>A) | |
| 15 | g.48468091C>A | CA392353167 | FBN1 | c.4594G>T (p.Gly1532Ter) n.3268G>T c.*357G>T (n.*357G>T) | COSMIC |
| 15 | g.48468091C>G | CA392353168 | FBN1 | c.4594G>C (p.Gly1532Arg) n.3268G>C c.*357G>C (n.*357G>C) | ClinVar |
| 15 | g.48468091C>T | CA392353169 | FBN1 | c.4594G>A (p.Gly1532Arg) n.3268G>A c.*357G>A (n.*357G>A) | |
| 15 | g.48468092A= | CA2175518268 | FBN1 | c.4593T= (p.Ser1531=) n.3267T= c.*356T= (n.*356T=) | |
| 15 | g.48468092A>C | CA490027209 | FBN1 | c.4593T>G (p.Ser1531=) n.3267T>G c.*356T>G (n.*356T>G) | |
| 15 | g.48468092A>G | CA269551789 | FBN1 | c.4593T>C (p.Ser1531=) n.3267T>C c.*356T>C (n.*356T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468092A>T | CA490027210 | FBN1 | c.4593T>A (p.Ser1531=) n.3267T>A c.*356T>A (n.*356T>A) | |
| 15 | g.48468093G>A | CA392353170 | FBN1 | c.4592C>T (p.Ser1531Phe) n.3266C>T c.*355C>T (n.*355C>T) | |
| 15 | g.48468093G>C | CA392353171 | FBN1 | c.4592C>G (p.Ser1531Cys) n.3266C>G c.*355C>G (n.*355C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468093G= | CA2175518269 | FBN1 | c.4592C= (p.Ser1531=) n.3266C= c.*355C= (n.*355C=) | |
| 15 | g.48468093G>T | CA392353172 | FBN1 | c.4592C>A (p.Ser1531Tyr) n.3266C>A c.*355C>A (n.*355C>A) | |
| 15 | g.48468094del | CA2573150809 | FBN1 | c.4591del (p.Ser1531LeufsTer?) n.3265del c.*354del (n.*354del) | ClinVar dbSNP |
| 15 | g.48468094A>C | CA392353174 | FBN1 | c.4591T>G (p.Ser1531Ala) n.3265T>G c.*354T>G (n.*354T>G) | gnomAD v4 |
| 15 | g.48468094A>G | CA392353175 | FBN1 | c.4591T>C (p.Ser1531Pro) n.3265T>C c.*354T>C (n.*354T>C) | ClinVar gnomAD v4 |
| 15 | g.48468094A>T | CA392353173 | FBN1 | c.4591T>A (p.Ser1531Thr) n.3265T>A c.*354T>A (n.*354T>A) | |
| 15 | g.48468095del | CA2573150810 | FBN1 | c.4590del (p.Ser1531LeufsTer?) n.3264del c.*353del (n.*353del) | dbSNP |
| 15 | g.48468095G>A | CA490027211 | FBN1 | c.4590C>T (p.Arg1530=) n.3264C>T c.*353C>T (n.*353C>T) | |
| 15 | g.48468095G>C | CA490027213 | FBN1 | c.4590C>G (p.Arg1530=) n.3264C>G c.*353C>G (n.*353C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468095G= | CA2175518270 | FBN1 | c.4590C= (p.Arg1530=) n.3264C= c.*353C= (n.*353C=) | |
| 15 | g.48468095G>T | CA490027212 | FBN1 | c.4590C>A (p.Arg1530=) n.3264C>A c.*353C>A (n.*353C>A) | |
| 15 | g.48468096C>A | CA392353176 | FBN1 | c.4589G>T (p.Arg1530Leu) n.3263G>T c.*352G>T (n.*352G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468096C= | CA2175518271 | FBN1 | c.4589G= (p.Arg1530=) n.3263G= c.*352G= (n.*352G=) | |
| 15 | g.48468096C>G | CA392353177 | FBN1 | c.4589G>C (p.Arg1530Pro) n.3263G>C c.*352G>C (n.*352G>C) | ClinVar dbSNP |
| 15 | g.48468096C>T | CA053432 | FBN1 | c.4589G>A (p.Arg1530His) n.3263G>A c.*352G>A (n.*352G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48468096_48468097delinsCG | CA2175518272 | FBN1 | c.4588_4589delinsCG (p.Arg1530=) n.3262_3263delinsCG c.*351_*352delinsCG (n.*351_*352delinsCG) | |
| 15 | g.48468097G>A | CA015232 | FBN1 | c.4588C>T (p.Arg1530Cys) n.3262C>T c.*351C>T (n.*351C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48468097G>C | CA392353178 | FBN1 | c.4588C>G (p.Arg1530Gly) n.3262C>G c.*351C>G (n.*351C>G) | |
| 15 | g.48468097G= | CA2175518273 | FBN1 | c.4588C= (p.Arg1530=) n.3262C= c.*351C= (n.*351C=) | |
| 15 | g.48468097G>T | CA392353179 | FBN1 | c.4588C>A (p.Arg1530Ser) n.3262C>A c.*351C>A (n.*351C>A) | ClinVar dbSNP |
| 15 | g.48468099del | CA1139663949 | FBN1 | c.4588del (p.Arg1530AlafsTer?) n.3262del c.*351del (n.*351del) | ClinVar dbSNP |
| 15 | g.48468098G>A | CA490027214 | FBN1 | c.4587C>T (p.Thr1529=) n.3261C>T c.*350C>T (n.*350C>T) | ClinVar dbSNP |
| 15 | g.48468098G>C | CA490027215 | FBN1 | c.4587C>G (p.Thr1529=) n.3261C>G c.*350C>G (n.*350C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48468098G= | CA2175518274 | FBN1 | c.4587C= (p.Thr1529=) n.3261C= c.*350C= (n.*350C=) | |
| 15 | g.48468098G>T | CA490027216 | FBN1 | c.4587C>A (p.Thr1529=) n.3261C>A c.*350C>A (n.*350C>A) | gnomAD v4 |
| 15 | g.48468099G>A | CA392353181 | FBN1 | c.4586C>T (p.Thr1529Ile) n.3260C>T c.*349C>T (n.*349C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48468099G>C | CA392353180 | FBN1 | c.4586C>G (p.Thr1529Ser) n.3260C>G c.*349C>G (n.*349C>G) | |
| 15 | g.48468099G= | CA2175518275 | FBN1 | c.4586C= (p.Thr1529=) n.3260C= c.*349C= (n.*349C=) | |
| 15 | g.48468099G>T | CA015220 | FBN1 | c.4586C>A (p.Thr1529Asn) n.3260C>A c.*349C>A (n.*349C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |