Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48465813_48465822del | CA2695220576 | FBN1 | c.4787_4796del (p.Arg1596LeufsTer?) n.3461_3470del c.*550_*559del (n.*550_*559del) c.94_103del | |
15 | g.48465820G>A | CA015431 | FBN1 | c.4786C>T (p.Arg1596Ter) n.3460C>T c.*549C>T (n.*549C>T) c.93C>T | ClinVar dbSNP |
15 | g.48465820G>C | CA392351677 | FBN1 | c.4786C>G (p.Arg1596Gly) n.3460C>G c.*549C>G (n.*549C>G) c.93C>G | |
15 | g.48465820G= | CA2175517289 | FBN1 | c.4786C= (p.Arg1596=) n.3460C= c.*549C= (n.*549C=) c.93C= | |
15 | g.48465820G>T | CA490026917 | FBN1 | c.4786C>A (p.Arg1596=) n.3460C>A c.*549C>A (n.*549C>A) c.93C>A | |
15 | g.48465821G>A | CA490026919 | FBN1 | c.4785C>T (p.Phe1595=) n.3459C>T c.*548C>T (n.*548C>T) c.92C>T | |
15 | g.48465821G>C | CA392351679 | FBN1 | c.4785C>G (p.Phe1595Leu) n.3459C>G c.*548C>G (n.*548C>G) c.92C>G | |
15 | g.48465821G>T | CA392351681 | FBN1 | c.4785C>A (p.Phe1595Leu) n.3459C>A c.*548C>A (n.*548C>A) c.92C>A | |
15 | g.48465822A>C | CA392351689 | FBN1 | c.4784T>G (p.Phe1595Cys) n.3458T>G c.*547T>G (n.*547T>G) c.91T>G | |
15 | g.48465822A>G | CA392351684 | FBN1 | c.4784T>C (p.Phe1595Ser) n.3458T>C c.*547T>C (n.*547T>C) c.91T>C | |
15 | g.48465822A>T | CA392351687 | FBN1 | c.4784T>A (p.Phe1595Tyr) n.3458T>A c.*547T>A (n.*547T>A) c.91T>A | |
15 | g.48465824del | CA2695220577 | FBN1 | c.4784del (p.Phe1595SerfsTer?) n.3458del c.*547del (n.*547del) c.91del | |
15 | g.48465823A>C | CA392351693 | FBN1 | c.4783T>G (p.Phe1595Val) n.3457T>G c.*546T>G (n.*546T>G) c.90T>G | |
15 | g.48465823A>G | CA392351695 | FBN1 | c.4783T>C (p.Phe1595Leu) n.3457T>C c.*546T>C (n.*546T>C) c.90T>C | |
15 | g.48465823A>T | CA392351697 | FBN1 | c.4783T>A (p.Phe1595Ile) n.3457T>A c.*546T>A (n.*546T>A) c.90T>A | |
15 | g.48465824A>C | CA490026933 | FBN1 | c.4782T>G (p.Gly1594=) n.3456T>G c.*545T>G (n.*545T>G) c.89T>G | |
15 | g.48465824A>G | CA490026931 | FBN1 | c.4782T>C (p.Gly1594=) n.3456T>C c.*545T>C (n.*545T>C) c.89T>C | |
15 | g.48465824A>T | CA490026929 | FBN1 | c.4782T>A (p.Gly1594=) n.3456T>A c.*545T>A (n.*545T>A) c.89T>A | |
15 | g.48465824_48465825delinsAC | CA2175517290 | FBN1 | c.4781_4782delinsGT (p.Gly1594=) n.3455_3456delinsGT c.*544_*545delinsGT (n.*544_*545delinsGT) c.88_89delinsGT | |
15 | g.48465825C>A | CA392351700 | FBN1 | c.4781G>T (p.Gly1594Val) n.3455G>T c.*544G>T (n.*544G>T) c.88G>T | |
15 | g.48465825C= | CA2175517291 | FBN1 | c.4781G= (p.Gly1594=) n.3455G= c.*544G= (n.*544G=) c.88G= | |
15 | g.48465825C>G | CA392351703 | FBN1 | c.4781G>C (p.Gly1594Ala) n.3455G>C c.*544G>C (n.*544G>C) c.88G>C | |
15 | g.48465825C>T | CA015420 | FBN1 | c.4781G>A (p.Gly1594Asp) n.3455G>A c.*544G>A (n.*544G>A) c.88G>A | ClinVar dbSNP |
15 | g.48465826del | CA913190361 | FBN1 | c.4781del (p.Gly1594ValfsTer?) n.3455del c.*544del (n.*544del) c.88del | ClinVar dbSNP |
15 | g.48465826C>A | CA392351707 | FBN1 | c.4780G>T (p.Gly1594Cys) n.3454G>T c.*543G>T (n.*543G>T) c.87G>T | ClinVar dbSNP |
15 | g.48465826C= | CA2175517292 | FBN1 | c.4780G= (p.Gly1594=) n.3454G= c.*543G= (n.*543G=) c.87G= | |
15 | g.48465826C>G | CA392351710 | FBN1 | c.4780G>C (p.Gly1594Arg) n.3454G>C c.*543G>C (n.*543G>C) c.87G>C | |
15 | g.48465826C>T | CA392351712 | FBN1 | c.4780G>A (p.Gly1594Ser) n.3454G>A c.*543G>A (n.*543G>A) c.87G>A | |
15 | g.48465827T>A | CA392351715 | FBN1 | c.4779A>T (p.Glu1593Asp) n.3453A>T c.*542A>T (n.*542A>T) c.86A>T | |
15 | g.48465827T>C | CA490026942 | FBN1 | c.4779A>G (p.Glu1593=) n.3453A>G c.*542A>G (n.*542A>G) c.86A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48465827T>G | CA392351717 | FBN1 | c.4779A>C (p.Glu1593Asp) n.3453A>C c.*542A>C (n.*542A>C) c.86A>C | |
15 | g.48465827T= | CA2175517293 | FBN1 | c.4779A= (p.Glu1593=) n.3453A= c.*542A= (n.*542A=) c.86A= | |
15 | g.48465828T>A | CA392351720 | FBN1 | c.4778A>T (p.Glu1593Val) n.3452A>T c.*541A>T (n.*541A>T) c.85A>T | |
15 | g.48465828T>C | CA392351724 | FBN1 | c.4778A>G (p.Glu1593Gly) n.3452A>G c.*541A>G (n.*541A>G) c.85A>G | ClinVar |
15 | g.48465828T>G | CA392351722 | FBN1 | c.4778A>C (p.Glu1593Ala) n.3452A>C c.*541A>C (n.*541A>C) c.85A>C | |
15 | g.48465829C>A | CA392351727 | FBN1 | c.4777G>T (p.Glu1593Ter) n.3451G>T c.*540G>T (n.*540G>T) c.84G>T | |
15 | g.48465829C>G | CA392351729 | FBN1 | c.4777G>C (p.Glu1593Gln) n.3451G>C c.*540G>C (n.*540G>C) c.84G>C | |
15 | g.48465829C>T | CA392351730 | FBN1 | c.4777G>A (p.Glu1593Lys) n.3451G>A c.*540G>A (n.*540G>A) c.84G>A | COSMIC |
15 | g.48465832del | CA2499222987 | FBN1 | c.4777del (p.Glu1593LysfsTer?) n.3451del c.*540del (n.*540del) c.84del | ClinVar dbSNP |
15 | g.48465830C>A | CA490026952 | FBN1 | c.4776G>T (p.Gly1592=) n.3450G>T c.*539G>T (n.*539G>T) c.83G>T | |
15 | g.48465830C= | CA2175517294 | FBN1 | c.4776G= (p.Gly1592=) n.3450G= c.*539G= (n.*539G=) c.83G= | |
15 | g.48465830C>G | CA490026954 | FBN1 | c.4776G>C (p.Gly1592=) n.3450G>C c.*539G>C (n.*539G>C) c.83G>C | |
15 | g.48465830C>T | CA490026956 | FBN1 | c.4776G>A (p.Gly1592=) n.3450G>A c.*539G>A (n.*539G>A) c.83G>A | ClinVar dbSNP gnomAD v4 |
15 | g.48465831C>A | CA392351733 | FBN1 | c.4775G>T (p.Gly1592Val) n.3449G>T c.*538G>T (n.*538G>T) c.82G>T | |
15 | g.48465831C= | CA2175517296 | FBN1 | c.4775G= (p.Gly1592=) n.3449G= c.*538G= (n.*538G=) c.82G= | |
15 | g.48465831C>G | CA392351736 | FBN1 | c.4775G>C (p.Gly1592Ala) n.3449G>C c.*538G>C (n.*538G>C) c.82G>C | |
15 | g.48465831C>T | CA392351738 | FBN1 | c.4775G>A (p.Gly1592Glu) n.3449G>A c.*538G>A (n.*538G>A) c.82G>A | ClinVar dbSNP |
15 | g.48465831_48465832delinsCC | CA2175517295 | FBN1 | c.4774_4775delinsGG (p.Gly1592=) n.3448_3449delinsGG c.*537_*538delinsGG (n.*537_*538delinsGG) c.81_82delinsGG | |
15 | g.48465831_48465832delinsTT | CA269549799 | FBN1 | c.4774_4775delinsAA (p.Gly1592Lys) n.3448_3449delinsAA c.*537_*538delinsAA (n.*537_*538delinsAA) c.81_82delinsAA | dbSNP |
15 | g.48465832C>A | CA392351745 | FBN1 | c.4774G>T (p.Gly1592Trp) n.3448G>T c.*537G>T (n.*537G>T) c.81G>T |