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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.48467969_48467970insTGTGTACTCACAAGGA | CA2580089656 | FBN1 | c.4725_4726insTACACATCCTTGTGAG (p.Met1576TyrfsTer5) n.3399_3400insTACACATCCTTGTGAG c.*488_*489insTACACATCCTTGTGAG (n.*488_*489insTACACATCCTTGTGAG) c.32_33insTACACATCCTTGTGAG | ClinVar dbSNP |
| 15 | g.48467962C>A | CA392352831 | FBN1 | c.4723G>T (p.Glu1575Ter) n.3397G>T c.*486G>T (n.*486G>T) c.30G>T | ClinVar dbSNP |
| 15 | g.48467962C>G | CA392352837 | FBN1 | c.4723G>C (p.Glu1575Gln) n.3397G>C c.*486G>C (n.*486G>C) c.30G>C | |
| 15 | g.48467962C>T | CA392352839 | FBN1 | c.4723G>A (p.Glu1575Lys) n.3397G>A c.*486G>A (n.*486G>A) c.30G>A | gnomAD v4 |
| 15 | g.48467963A>C | CA392352841 | FBN1 | c.4722T>G (p.Cys1574Trp) n.3396T>G c.*485T>G (n.*485T>G) c.29T>G | |
| 15 | g.48467963A>G | CA490027126 | FBN1 | c.4722T>C (p.Cys1574=) n.3396T>C c.*485T>C (n.*485T>C) c.29T>C | |
| 15 | g.48467963A>T | CA392352842 | FBN1 | c.4722T>A (p.Cys1574Ter) n.3396T>A c.*485T>A (n.*485T>A) c.29T>A | |
| 15 | g.48467963_48467964delinsAC | CA2175518205 | FBN1 | c.4721_4722delinsGT (p.Cys1574=) n.3395_3396delinsGT c.*484_*485delinsGT (n.*484_*485delinsGT) c.28_29delinsGT | |
| 15 | g.48467963_48467977delinsTG | CA2573054034 | FBN1 | c.4708_4722delinsCA (p.Trp1570GlnfsTer7) n.3382_3396delinsCA c.*471_*485delinsCA (n.*471_*485delinsCA) c.15_29delinsCA | ClinVar dbSNP |
| 15 | g.48467964del | CA658798340 | FBN1 | c.4721del (p.Cys1574LeufsTer7) n.3395del c.*484del (n.*484del) c.28del | ClinVar dbSNP |
| 15 | g.48467964C>A | CA392352843 | FBN1 | c.4721G>T (p.Cys1574Phe) n.3395G>T c.*484G>T (n.*484G>T) c.28G>T | |
| 15 | g.48467964C>G | CA392352845 | FBN1 | c.4721G>C (p.Cys1574Ser) n.3395G>C c.*484G>C (n.*484G>C) c.28G>C | |
| 15 | g.48467964C>T | CA392352847 | FBN1 | c.4721G>A (p.Cys1574Tyr) n.3395G>A c.*484G>A (n.*484G>A) c.28G>A | |
| 15 | g.48467964_48467965insTTCTGTGT | CA2504554227 | FBN1 | c.4720_4721insACACAGAA (p.Cys1574TyrfsTer10) n.3394_3395insACACAGAA c.*483_*484insACACAGAA (n.*483_*484insACACAGAA) c.27_28insACACAGAA | |
| 15 | g.48467965A>C | CA392352852 | FBN1 | c.4720T>G (p.Cys1574Gly) n.3394T>G c.*483T>G (n.*483T>G) c.27T>G | |
| 15 | g.48467965A>G | CA392352855 | FBN1 | c.4720T>C (p.Cys1574Arg) n.3394T>C c.*483T>C (n.*483T>C) c.27T>C | |
| 15 | g.48467965A>T | CA392352850 | FBN1 | c.4720T>A (p.Cys1574Ser) n.3394T>A c.*483T>A (n.*483T>A) c.27T>A | |
| 15 | g.48467966A= | CA2175518207 | FBN1 | c.4719T= (p.Pro1573=) n.3393T= c.*482T= (n.*482T=) c.26T= | |
| 15 | g.48467966A>C | CA490027128 | FBN1 | c.4719T>G (p.Pro1573=) n.3393T>G c.*482T>G (n.*482T>G) c.26T>G | |
| 15 | g.48467966A>G | CA053546 | FBN1 | c.4719T>C (p.Pro1573=) n.3393T>C c.*482T>C (n.*482T>C) c.26T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48467966A>T | CA490027127 | FBN1 | c.4719T>A (p.Pro1573=) n.3393T>A c.*482T>A (n.*482T>A) c.26T>A | dbSNP |
| 15 | g.48467966_48468010delinsAGGAGTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTT | CA2175518206 | FBN1 | c.4675_4719delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT (p.Lys1559=) n.3349_3393delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT c.*438_*482delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT (n.*438_*482delinsAAAGCTTCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCT) | |
| 15 | g.48467967G>A | CA392352860 | FBN1 | c.4718C>T (p.Pro1573Leu) n.3392C>T c.*481C>T (n.*481C>T) c.25C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48467967G>C | CA392352864 | FBN1 | c.4718C>G (p.Pro1573Arg) n.3392C>G c.*481C>G (n.*481C>G) c.25C>G | |
| 15 | g.48467967G= | CA2175518208 | FBN1 | c.4718C= (p.Pro1573=) n.3392C= c.*481C= (n.*481C=) c.25C= | |
| 15 | g.48467967G>T | CA392352867 | FBN1 | c.4718C>A (p.Pro1573His) n.3392C>A c.*481C>A (n.*481C>A) c.25C>A | |
| 15 | g.48467970_48468013del | CA015290 | FBN1 | c.4675_4718del (p.Lys1559LeufsTer2) n.3349_3392del c.*438_*481del (n.*438_*481del) | ClinVar dbSNP |
| 15 | g.48467968G>A | CA392352871 | FBN1 | c.4717C>T (p.Pro1573Ser) n.3391C>T c.*480C>T (n.*480C>T) c.24C>T | gnomAD v4 |
| 15 | g.48467968G>C | CA392352872 | FBN1 | c.4717C>G (p.Pro1573Ala) n.3391C>G c.*480C>G (n.*480C>G) c.24C>G | gnomAD v4 |
| 15 | g.48467968G>T | CA392352873 | FBN1 | c.4717C>A (p.Pro1573Thr) n.3391C>A c.*480C>A (n.*480C>A) c.24C>A | |
| 15 | g.48467969A>C | CA490027129 | FBN1 | c.4716T>G (p.Thr1572=) n.3390T>G c.*479T>G (n.*479T>G) c.23T>G | |
| 15 | g.48467969A>G | CA490027130 | FBN1 | c.4716T>C (p.Thr1572=) n.3390T>C c.*479T>C (n.*479T>C) c.23T>C | |
| 15 | g.48467969A>T | CA490027131 | FBN1 | c.4716T>A (p.Thr1572=) n.3390T>A c.*479T>A (n.*479T>A) c.23T>A | |
| 15 | g.48467970G>A | CA392352874 | FBN1 | c.4715C>T (p.Thr1572Ile) n.3389C>T c.*478C>T (n.*478C>T) c.22C>T | gnomAD v4 |
| 15 | g.48467970G>C | CA392352875 | FBN1 | c.4715C>G (p.Thr1572Ser) n.3389C>G c.*478C>G (n.*478C>G) c.22C>G | |
| 15 | g.48467970G>T | CA392352879 | FBN1 | c.4715C>A (p.Thr1572Asn) n.3389C>A c.*478C>A (n.*478C>A) c.22C>A | ClinVar |
| 15 | g.48467971T>A | CA392352883 | FBN1 | c.4714A>T (p.Thr1572Ser) n.3388A>T c.*477A>T (n.*477A>T) c.21A>T | COSMIC |
| 15 | g.48467971T>C | CA392352884 | FBN1 | c.4714A>G (p.Thr1572Ala) n.3388A>G c.*477A>G (n.*477A>G) c.21A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48467971T>G | CA392352886 | FBN1 | c.4714A>C (p.Thr1572Pro) n.3388A>C c.*477A>C (n.*477A>C) c.21A>C | |
| 15 | g.48467971T= | CA2175518209 | FBN1 | c.4714A= (p.Thr1572=) n.3388A= c.*477A= (n.*477A=) c.21A= | |
| 15 | g.48467972A= | CA2175518210 | FBN1 | c.4713T= (p.Gly1571=) n.3387T= c.*476T= (n.*476T=) c.20T= | |
| 15 | g.48467972A>C | CA490027132 | FBN1 | c.4713T>G (p.Gly1571=) n.3387T>G c.*476T>G (n.*476T>G) c.20T>G | |
| 15 | g.48467972A>G | CA490027133 | FBN1 | c.4713T>C (p.Gly1571=) n.3387T>C c.*476T>C (n.*476T>C) c.20T>C | |
| 15 | g.48467972A>T | CA490027134 | FBN1 | c.4713T>A (p.Gly1571=) n.3387T>A c.*476T>A (n.*476T>A) c.20T>A | ClinVar dbSNP gnomAD v2 |
| 15 | g.48467973C>A | CA392352893 | FBN1 | c.4712G>T (p.Gly1571Val) n.3386G>T c.*475G>T (n.*475G>T) c.19G>T | |
| 15 | g.48467973C>G | CA392352891 | FBN1 | c.4712G>C (p.Gly1571Ala) n.3386G>C c.*475G>C (n.*475G>C) c.19G>C | |
| 15 | g.48467973C>T | CA392352892 | FBN1 | c.4712G>A (p.Gly1571Asp) n.3386G>A c.*475G>A (n.*475G>A) c.19G>A | ClinVar dbSNP |
| 15 | g.48467974C>A | CA392352896 | FBN1 | c.4711G>T (p.Gly1571Cys) n.3385G>T c.*474G>T (n.*474G>T) c.18G>T | |
| 15 | g.48467974C>G | CA392352897 | FBN1 | c.4711G>C (p.Gly1571Arg) n.3385G>C c.*474G>C (n.*474G>C) c.18G>C | |
| 15 | g.48467974C>T | CA392352898 | FBN1 | c.4711G>A (p.Gly1571Ser) n.3385G>A c.*474G>A (n.*474G>A) c.18G>A | |
| 15 | g.48467975C>A | CA015367 | FBN1 | c.4710G>T (p.Trp1570Cys) n.3384G>T c.*473G>T (n.*473G>T) c.17G>T | ClinVar dbSNP |
| 15 | g.48467975C= | CA2175518211 | FBN1 | c.4710G= (p.Trp1570=) n.3384G= c.*473G= (n.*473G=) c.17G= | |
| 15 | g.48467975C>G | CA015361 | FBN1 | c.4710G>C (p.Trp1570Cys) n.3384G>C c.*473G>C (n.*473G>C) c.17G>C | ClinVar dbSNP |
| 15 | g.48467975C>T | CA392352902 | FBN1 | c.4710G>A (p.Trp1570Ter) n.3384G>A c.*473G>A (n.*473G>A) c.17G>A | ClinVar dbSNP COSMIC |
| 15 | g.48467975_48467977del | CA2580089659 | FBN1 | c.4708_4710del (p.Trp1570del) n.3382_3384del c.*471_*473del (n.*471_*473del) c.15_17del | ClinVar |
| 15 | g.48467976C>A | CA392352907 | FBN1 | c.4709G>T (p.Trp1570Leu) n.3383G>T c.*472G>T (n.*472G>T) c.16G>T | |
| 15 | g.48467976C>G | CA392352909 | FBN1 | c.4709G>C (p.Trp1570Ser) n.3383G>C c.*472G>C (n.*472G>C) c.16G>C | |
| 15 | g.48467976C>T | CA392352912 | FBN1 | c.4709G>A (p.Trp1570Ter) n.3383G>A c.*472G>A (n.*472G>A) c.16G>A | COSMIC |
| 15 | g.48467977A= | CA2175518212 | FBN1 | c.4708T= (p.Trp1570=) n.3382T= c.*471T= (n.*471T=) c.15T= | |
| 15 | g.48467977A>C | CA392352916 | FBN1 | c.4708T>G (p.Trp1570Gly) n.3382T>G c.*471T>G (n.*471T>G) c.15T>G | |
| 15 | g.48467977A>G | CA392352917 | FBN1 | c.4708T>C (p.Trp1570Arg) n.3382T>C c.*471T>C (n.*471T>C) c.15T>C | ClinVar dbSNP |
| 15 | g.48467977A>T | CA392352919 | FBN1 | c.4708T>A (p.Trp1570Arg) n.3382T>A c.*471T>A (n.*471T>A) c.15T>A | |
| 15 | g.48467978G>A | CA490027136 | FBN1 | c.4707C>T (p.Ala1569=) n.3381C>T c.*470C>T (n.*470C>T) c.14C>T | |
| 15 | g.48467978G>C | CA015350 | FBN1 | c.4707C>G (p.Ala1569=) n.3381C>G c.*470C>G (n.*470C>G) c.14C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48467978G= | CA2175518213 | FBN1 | c.4707C= (p.Ala1569=) n.3381C= c.*470C= (n.*470C=) c.14C= | |
| 15 | g.48467978G>T | CA490027135 | FBN1 | c.4707C>A (p.Ala1569=) n.3381C>A c.*470C>A (n.*470C>A) c.14C>A | |
| 15 | g.48467979del | CA2695220587 | FBN1 | c.4707del (p.Trp1570GlyfsTer11) n.3381del c.*470del (n.*470del) c.14del | |
| 15 | g.48467978_48467981dup | CA2740096587 | FBN1 | c.4704_4707dup (p.Trp1570SerfsTer7) n.3378_3381dup c.*467_*470dup (n.*467_*470dup) c.11_14dup | ClinVar |
| 15 | g.48467979G>A | CA392352929 | FBN1 | c.4706C>T (p.Ala1569Val) n.3380C>T c.*469C>T (n.*469C>T) c.13C>T | |
| 15 | g.48467979G>C | CA392352926 | FBN1 | c.4706C>G (p.Ala1569Gly) n.3380C>G c.*469C>G (n.*469C>G) c.13C>G | |
| 15 | g.48467979G>T | CA392352928 | FBN1 | c.4706C>A (p.Ala1569Asp) n.3380C>A c.*469C>A (n.*469C>A) c.13C>A | |
| 15 | g.48467980C>A | CA392352930 | FBN1 | c.4705G>T (p.Ala1569Ser) n.3379G>T c.*468G>T (n.*468G>T) c.12G>T | |
| 15 | g.48467980C= | CA2175518214 | FBN1 | c.4705G= (p.Ala1569=) n.3379G= c.*468G= (n.*468G=) c.12G= | |
| 15 | g.48467980C>G | CA392352931 | FBN1 | c.4705G>C (p.Ala1569Pro) n.3379G>C c.*468G>C (n.*468G>C) c.12G>C | |
| 15 | g.48467980C>T | CA392352932 | FBN1 | c.4705G>A (p.Ala1569Thr) n.3379G>A c.*468G>A (n.*468G>A) c.12G>A | gnomAD v4 |
| 15 | g.48467981T>A | CA392352934 | FBN1 | c.4704A>T (p.Lys1568Asn) n.3378A>T c.*467A>T (n.*467A>T) c.11A>T | ClinVar dbSNP |
| 15 | g.48467981T>C | CA015341 | FBN1 | c.4704A>G (p.Lys1568=) n.3378A>G c.*467A>G (n.*467A>G) c.11A>G | ClinVar dbSNP |
| 15 | g.48467981T>G | CA392352933 | FBN1 | c.4704A>C (p.Lys1568Asn) n.3378A>C c.*467A>C (n.*467A>C) c.11A>C | |
| 15 | g.48467981T= | CA2175518215 | FBN1 | c.4704A= (p.Lys1568=) n.3378A= c.*467A= (n.*467A=) c.11A= | |
| 15 | g.48467983dup | CA658798341 | FBN1 | c.4704dup (p.Ala1569SerfsTer7) n.3378dup c.*467dup (n.*467dup) c.11dup | ClinVar dbSNP |
| 15 | g.48467982_48467983dup | CA2695220589 | FBN1 | c.4703_4704dup (p.Ala1569LysfsTer13) n.3377_3378dup c.*466_*467dup (n.*466_*467dup) c.10_11dup | |
| 15 | g.48467983del | CA2695220588 | FBN1 | c.4704del (p.Ala1569ProfsTer12) n.3378del c.*467del (n.*467del) c.11del | |
| 15 | g.48467982T>A | CA392352935 | FBN1 | c.4703A>T (p.Lys1568Ile) n.3377A>T c.*466A>T (n.*466A>T) c.10A>T | |
| 15 | g.48467982T>C | CA392352936 | FBN1 | c.4703A>G (p.Lys1568Arg) n.3377A>G c.*466A>G (n.*466A>G) c.10A>G | |
| 15 | g.48467982T>G | CA392352937 | FBN1 | c.4703A>C (p.Lys1568Thr) n.3377A>C c.*466A>C (n.*466A>C) c.10A>C | COSMIC |
| 15 | g.48467983T>A | CA392352938 | FBN1 | c.4702A>T (p.Lys1568Ter) n.3376A>T c.*465A>T (n.*465A>T) c.9A>T | |
| 15 | g.48467983T>C | CA392352939 | FBN1 | c.4702A>G (p.Lys1568Glu) n.3376A>G c.*465A>G (n.*465A>G) c.9A>G | |
| 15 | g.48467983T>G | CA392352940 | FBN1 | c.4702A>C (p.Lys1568Gln) n.3376A>C c.*465A>C (n.*465A>C) c.9A>C | |
| 15 | g.48467984A>C | CA490027137 | FBN1 | c.4701T>G (p.Gly1567=) n.3375T>G c.*464T>G (n.*464T>G) c.8T>G | |
| 15 | g.48467984A>G | CA490027138 | FBN1 | c.4701T>C (p.Gly1567=) n.3375T>C c.*464T>C (n.*464T>C) c.8T>C | |
| 15 | g.48467984A>T | CA490027139 | FBN1 | c.4701T>A (p.Gly1567=) n.3375T>A c.*464T>A (n.*464T>A) c.8T>A | |
| 15 | g.48467984_48467985delinsAC | CA2175518216 | FBN1 | c.4700_4701delinsGT (p.Gly1567=) n.3374_3375delinsGT c.*463_*464delinsGT (n.*463_*464delinsGT) c.7_8delinsGT | |
| 15 | g.48467985C>A | CA392352941 | FBN1 | c.4700G>T (p.Gly1567Val) n.3374G>T c.*463G>T (n.*463G>T) c.7G>T | |
| 15 | g.48467985C>G | CA392352943 | FBN1 | c.4700G>C (p.Gly1567Ala) n.3374G>C c.*463G>C (n.*463G>C) c.7G>C | |
| 15 | g.48467985C>T | CA392352942 | FBN1 | c.4700G>A (p.Gly1567Asp) n.3374G>A c.*463G>A (n.*463G>A) c.7G>A | |
| 15 | g.48467987del | CA913190362 | FBN1 | c.4700del (p.Gly1567ValfsTer14) n.3374del c.*463del (n.*463del) c.7del | ClinVar dbSNP |
| 15 | g.48467986_48467987del | CA2695220590 | FBN1 | c.4699_4700del (p.Gly1567Ter) n.3373_3374del c.*462_*463del (n.*462_*463del) c.6_7del | |
| 15 | g.48467986C>A | CA392352944 | FBN1 | c.4699G>T (p.Gly1567Cys) n.3373G>T c.*462G>T (n.*462G>T) c.6G>T | |
| 15 | g.48467986C= | CA2175518217 | FBN1 | c.4699G= (p.Gly1567=) n.3373G= c.*462G= (n.*462G=) c.6G= | |
| 15 | g.48467986C>G | CA392352945 | FBN1 | c.4699G>C (p.Gly1567Arg) n.3373G>C c.*462G>C (n.*462G>C) c.6G>C | |
| 15 | g.48467986C>T | CA392352946 | FBN1 | c.4699G>A (p.Gly1567Ser) n.3373G>A c.*462G>A (n.*462G>A) c.6G>A | dbSNP |
| 15 | g.48467987C>A | CA490027140 | FBN1 | c.4698G>T (p.Leu1566=) n.3372G>T c.*461G>T (n.*461G>T) c.5G>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48467987C= | CA2175518218 | FBN1 | c.4698G= (p.Leu1566=) n.3372G= c.*461G= (n.*461G=) c.5G= | |
| 15 | g.48467987C>G | CA490027141 | FBN1 | c.4698G>C (p.Leu1566=) n.3372G>C c.*461G>C (n.*461G>C) c.5G>C | |
| 15 | g.48467987C>T | CA269551678 | FBN1 | c.4698G>A (p.Leu1566=) n.3372G>A c.*461G>A (n.*461G>A) c.5G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48467988A>C | CA392352947 | FBN1 | c.4697T>G (p.Leu1566Arg) n.3371T>G c.*460T>G (n.*460T>G) c.4T>G | |
| 15 | g.48467988A>G | CA392352948 | FBN1 | c.4697T>C (p.Leu1566Pro) n.3371T>C c.*460T>C (n.*460T>C) c.4T>C | |
| 15 | g.48467988A>T | CA392352949 | FBN1 | c.4697T>A (p.Leu1566Gln) n.3371T>A c.*460T>A (n.*460T>A) c.4T>A | |
| 15 | g.48467988_48468001del | CA2695220591 | FBN1 | c.4684_4697del (p.Cys1562GlyfsTer2) n.3358_3371del c.*447_*460del (n.*447_*460del) | |
| 15 | g.48467989G>A | CA490027142 | FBN1 | c.4696C>T (p.Leu1566=) n.3370C>T c.*459C>T (n.*459C>T) c.3C>T | COSMIC |
| 15 | g.48467989G>C | CA392352950 | FBN1 | c.4696C>G (p.Leu1566Val) n.3370C>G c.*459C>G (n.*459C>G) c.3C>G | |
| 15 | g.48467989G>T | CA392352951 | FBN1 | c.4696C>A (p.Leu1566Met) n.3370C>A c.*459C>A (n.*459C>A) c.3C>A | |
| 15 | g.48467990A= | CA2175518219 | FBN1 | c.4695T= (p.Ser1565=) n.3369T= c.*458T= (n.*458T=) c.2T= | |
| 15 | g.48467990A>C | CA490027143 | FBN1 | c.4695T>G (p.Ser1565=) n.3369T>G c.*458T>G (n.*458T>G) c.2T>G | |
| 15 | g.48467990A>G | CA490027144 | FBN1 | c.4695T>C (p.Ser1565=) n.3369T>C c.*458T>C (n.*458T>C) c.2T>C | |
| 15 | g.48467990A>T | CA490027145 | FBN1 | c.4695T>A (p.Ser1565=) n.3369T>A c.*458T>A (n.*458T>A) c.2T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48467991G>A | CA392352952 | FBN1 | c.4694C>T (p.Ser1565Phe) n.3368C>T c.*457C>T (n.*457C>T) c.1C>T | ClinVar dbSNP |
| 15 | g.48467991G>C | CA392352953 | FBN1 | c.4694C>G (p.Ser1565Cys) n.3368C>G c.*457C>G (n.*457C>G) c.1C>G | |
| 15 | g.48467991G= | CA2175518220 | FBN1 | c.4694C= (p.Ser1565=) n.3368C= c.*457C= (n.*457C=) c.1C= | |
| 15 | g.48467991G>T | CA392352954 | FBN1 | c.4694C>A (p.Ser1565Tyr) n.3368C>A c.*457C>A (n.*457C>A) c.1C>A | |
| 15 | g.48467992A>C | CA392352957 | FBN1 | c.4693T>G (p.Ser1565Ala) n.3367T>G c.*456T>G (n.*456T>G) | |
| 15 | g.48467992A>G | CA392352956 | FBN1 | c.4693T>C (p.Ser1565Pro) n.3367T>C c.*456T>C (n.*456T>C) | |
| 15 | g.48467992A>T | CA392352955 | FBN1 | c.4693T>A (p.Ser1565Thr) n.3367T>A c.*456T>A (n.*456T>A) | |
| 15 | g.48467992_48467995dup | CA2695220592 | FBN1 | c.4690_4693dup (p.Ser1565LeufsTer5) n.3364_3367dup c.*453_*456dup (n.*453_*456dup) | |
| 15 | g.48467993A>C | CA392352959 | FBN1 | c.4692T>G (p.Cys1564Trp) n.3366T>G c.*455T>G (n.*455T>G) | |
| 15 | g.48467993A>G | CA490027146 | FBN1 | c.4692T>C (p.Cys1564=) n.3366T>C c.*455T>C (n.*455T>C) | gnomAD v4 |
| 15 | g.48467993A>T | CA392352958 | FBN1 | c.4692T>A (p.Cys1564Ter) n.3366T>A c.*455T>A (n.*455T>A) | |
| 15 | g.48467994C>A | CA392352960 | FBN1 | c.4691G>T (p.Cys1564Phe) n.3365G>T c.*454G>T (n.*454G>T) | |
| 15 | g.48467994C= | CA2175518221 | FBN1 | c.4691G= (p.Cys1564=) n.3365G= c.*454G= (n.*454G=) | |
| 15 | g.48467994C>G | CA015326 | FBN1 | c.4691G>C (p.Cys1564Ser) n.3365G>C c.*454G>C (n.*454G>C) | ClinVar dbSNP |
| 15 | g.48467994C>T | CA16609286 | FBN1 | c.4691G>A (p.Cys1564Tyr) n.3365G>A c.*454G>A (n.*454G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48467995A>C | CA392352961 | FBN1 | c.4690T>G (p.Cys1564Gly) n.3364T>G c.*453T>G (n.*453T>G) | |
| 15 | g.48467995A>G | CA392352962 | FBN1 | c.4690T>C (p.Cys1564Arg) n.3364T>C c.*453T>C (n.*453T>C) | |
| 15 | g.48467995A>T | CA392352963 | FBN1 | c.4690T>A (p.Cys1564Ser) n.3364T>A c.*453T>A (n.*453T>A) | |
| 15 | g.48467995_48467996insACAA | CA2499222979 | FBN1 | c.4690_4691insTGTT (p.Cys1564LeufsTer6) n.3364_3365insTGTT c.*453_*454insTGTT (n.*453_*454insTGTT) | ClinVar dbSNP |
| 15 | g.48467996G>A | CA490027147 | FBN1 | c.4689C>T (p.Cys1563=) n.3363C>T c.*452C>T (n.*452C>T) | |
| 15 | g.48467996G>C | CA392352964 | FBN1 | c.4689C>G (p.Cys1563Trp) n.3363C>G c.*452C>G (n.*452C>G) | ClinVar dbSNP |
| 15 | g.48467996G= | CA2175518222 | FBN1 | c.4689C= (p.Cys1563=) n.3363C= c.*452C= (n.*452C=) | |
| 15 | g.48467996G>T | CA392352965 | FBN1 | c.4689C>A (p.Cys1563Ter) n.3363C>A c.*452C>A (n.*452C>A) | |
| 15 | g.48467997C>A | CA392352966 | FBN1 | c.4688G>T (p.Cys1563Phe) n.3362G>T c.*451G>T (n.*451G>T) | |
| 15 | g.48467997C= | CA2175518223 | FBN1 | c.4688G= (p.Cys1563=) n.3362G= c.*451G= (n.*451G=) | |
| 15 | g.48467997C>G | CA392352967 | FBN1 | c.4688G>C (p.Cys1563Ser) n.3362G>C c.*451G>C (n.*451G>C) | ClinVar dbSNP |
| 15 | g.48467997C>T | CA392352968 | FBN1 | c.4688G>A (p.Cys1563Tyr) n.3362G>A c.*451G>A (n.*451G>A) | ClinVar dbSNP |
| 15 | g.48467998A= | CA2175518224 | FBN1 | c.4687T= (p.Cys1563=) n.3361T= c.*450T= (n.*450T=) | |
| 15 | g.48467998A>C | CA392352969 | FBN1 | c.4687T>G (p.Cys1563Gly) n.3361T>G c.*450T>G (n.*450T>G) | |
| 15 | g.48467998A>G | CA392352970 | FBN1 | c.4687T>C (p.Cys1563Arg) n.3361T>C c.*450T>C (n.*450T>C) | |
| 15 | g.48467998A>T | CA392352971 | FBN1 | c.4687T>A (p.Cys1563Ser) n.3361T>A c.*450T>A (n.*450T>A) | ClinVar dbSNP |
| 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 |