Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48441696G>C | CA2628334326 | FBN1 | c.6163+25C>G (n.6163+25C>G) c.1162+25C>G (n.1162+25C>G) c.*1926+25C>G (n.*1926+25C>G) c.1470+25C>G n.283+25C>G | gnomAD v4 |
15 | g.48441699dup | CA2839754802 | FBN1 | c.6163+24dup (n.6163+24dup) c.1162+24dup (n.1162+24dup) c.*1926+24dup (n.*1926+24dup) c.1470+24dup n.283+24dup | |
15 | g.48441698C>T | CA2628334327 | FBN1 | c.6163+23G>A (n.6163+23G>A) c.1162+23G>A (n.1162+23G>A) c.*1926+23G>A (n.*1926+23G>A) c.1470+23G>A n.283+23G>A | gnomAD v4 |
15 | g.48441702del | CA2628334328 | FBN1 | c.6163+21del (n.6163+21del) c.1162+21del (n.1162+21del) c.*1926+21del (n.*1926+21del) c.1470+21del n.283+21del | gnomAD v4 |
15 | g.48441703G>A | CA713401145 | FBN1 | c.6163+18C>T (n.6163+18C>T) c.1162+18C>T (n.1162+18C>T) c.*1926+18C>T (n.*1926+18C>T) c.1470+18C>T n.283+18C>T | dbSNP |
15 | g.48441703G>C | CA617836489 | FBN1 | c.6163+18C>G (n.6163+18C>G) c.1162+18C>G (n.1162+18C>G) c.*1926+18C>G (n.*1926+18C>G) c.1470+18C>G n.283+18C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48441703G= | CA2175508552 | FBN1 | c.6163+18C= (n.6163+18C=) c.1162+18C= (n.1162+18C=) c.*1926+18C= (n.*1926+18C=) c.1470+18C= n.283+18C= | |
15 | g.48441704C>A | CA713401160 | FBN1 | c.6163+17G>T (n.6163+17G>T) c.1162+17G>T (n.1162+17G>T) c.*1926+17G>T (n.*1926+17G>T) c.1470+17G>T n.283+17G>T | dbSNP |
15 | g.48441704C= | CA2175508556 | FBN1 | c.6163+17G= (n.6163+17G=) c.1162+17G= (n.1162+17G=) c.*1926+17G= (n.*1926+17G=) c.1470+17G= n.283+17G= | |
15 | g.48441704C>G | CA269530655 | FBN1 | c.6163+17G>C (n.6163+17G>C) c.1162+17G>C (n.1162+17G>C) c.*1926+17G>C (n.*1926+17G>C) c.1470+17G>C n.283+17G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48441709A>G | CA2628334336 | FBN1 | c.6163+12T>C (n.6163+12T>C) c.1162+12T>C (n.1162+12T>C) c.*1926+12T>C (n.*1926+12T>C) c.1470+12T>C n.283+12T>C | gnomAD v4 |
15 | g.48441711dup | CA2838563505 | FBN1 | c.6163+12dup (n.6163+12dup) c.1162+12dup (n.1162+12dup) c.*1926+12dup (n.*1926+12dup) c.1470+12dup n.283+12dup | |
15 | g.48441710A= | CA2175508559 | FBN1 | c.6163+11T= (n.6163+11T=) c.1162+11T= (n.1162+11T=) c.*1926+11T= (n.*1926+11T=) c.1470+11T= n.283+11T= | |
15 | g.48441710A>C | CA713401161 | FBN1 | c.6163+11T>G (n.6163+11T>G) c.1162+11T>G (n.1162+11T>G) c.*1926+11T>G (n.*1926+11T>G) c.1470+11T>G n.283+11T>G | dbSNP |
15 | g.48441710A>G | CA914002823 | FBN1 | c.6163+11T>C (n.6163+11T>C) c.1162+11T>C (n.1162+11T>C) c.*1926+11T>C (n.*1926+11T>C) c.1470+11T>C n.283+11T>C | gnomAD v2 gnomAD v4 |
15 | g.48441712G>C | CA056343 | FBN1 | c.6163+9C>G (n.6163+9C>G) c.1162+9C>G (n.1162+9C>G) c.*1926+9C>G (n.*1926+9C>G) c.1470+9C>G n.283+9C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48441712G= | CA2175508561 | FBN1 | c.6163+9C= (n.6163+9C=) c.1162+9C= (n.1162+9C=) c.*1926+9C= (n.*1926+9C=) c.1470+9C= n.283+9C= | |
15 | g.48441712G>T | CA645584724 | FBN1 | c.6163+9C>A (n.6163+9C>A) c.1162+9C>A (n.1162+9C>A) c.*1926+9C>A (n.*1926+9C>A) c.1470+9C>A n.283+9C>A | dbSNP COSMIC |
15 | g.48441713A= | CA2175508565 | FBN1 | c.6163+8T= (n.6163+8T=) c.1162+8T= (n.1162+8T=) c.*1926+8T= (n.*1926+8T=) c.1470+8T= n.283+8T= | |
15 | g.48441713A>C | CA617836490 | FBN1 | c.6163+8T>G (n.6163+8T>G) c.1162+8T>G (n.1162+8T>G) c.*1926+8T>G (n.*1926+8T>G) c.1470+8T>G n.283+8T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48441715_48441720del | CA2695220184 | FBN1 | c.6163+3_6163+8del (n.6163+3_6163+8del) c.1162+3_1162+8del (n.1162+3_1162+8del) c.*1926+3_*1926+8del (n.*1926+3_*1926+8del) c.1470+3_1470+8del n.283+3_283+8del | |
15 | g.48441714C>T | CA2570387951 | FBN1 | c.6163+7G>A (n.6163+7G>A) c.1162+7G>A (n.1162+7G>A) c.*1926+7G>A (n.*1926+7G>A) c.1470+7G>A n.283+7G>A | |
15 | g.48441717_48441720del | CA2695220186 | FBN1 | c.6163+3_6163+6del (n.6163+3_6163+6del) c.1162+3_1162+6del (n.1162+3_1162+6del) c.*1926+3_*1926+6del (n.*1926+3_*1926+6del) c.1470+3_1470+6del n.283+3_283+6del | |
15 | g.48441717T>G | CA2499222977 | FBN1 | c.6163+4A>C (n.6163+4A>C) c.1162+4A>C (n.1162+4A>C) c.*1926+4A>C (n.*1926+4A>C) c.1470+4A>C n.283+4A>C | ClinVar dbSNP |
15 | g.48441718T= | CA2175508568 | FBN1 | c.6163+3A= (n.6163+3A=) c.1162+3A= (n.1162+3A=) c.*1926+3A= (n.*1926+3A=) c.1470+3A= n.283+3A= | |
15 | g.48441719A>C | CA392337846 | FBN1 | c.6163+2T>G (n.6163+2T>G) c.1162+2T>G (n.1162+2T>G) c.*1926+2T>G (n.*1926+2T>G) c.1470+2T>G n.283+2T>G | |
15 | g.48441719A>G | CA392337844 | FBN1 | c.6163+2T>C (n.6163+2T>C) c.1162+2T>C (n.1162+2T>C) c.*1926+2T>C (n.*1926+2T>C) c.1470+2T>C n.283+2T>C | |
15 | g.48441719A>T | CA392337845 | FBN1 | c.6163+2T>A (n.6163+2T>A) c.1162+2T>A (n.1162+2T>A) c.*1926+2T>A (n.*1926+2T>A) c.1470+2T>A n.283+2T>A | gnomAD v4 |
15 | g.48441719dup | CA304350 | FBN1 | c.6163+2dup (n.6163+2dup) c.1162+2dup (n.1162+2dup) c.*1926+2dup (n.*1926+2dup) c.1470+2dup n.283+2dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48441719_48441720del | CA2740096627 | FBN1 | c.6163+1_6163+2del (n.6163+1_6163+2del) c.1162+1_1162+2del (n.1162+1_1162+2del) c.*1926+1_*1926+2del (n.*1926+1_*1926+2del) c.1470+1_1470+2del n.283+1_283+2del | ClinVar |
15 | g.48441724_48441731del | CA913203390 | FBN1 | c.6158_6163+2del c.1157_1162+2del c.*1921_*1926+2del c.1465_1470+2del n.278_283+2del | |
15 | g.48441720C>A | CA392337852 | FBN1 | c.6163+1G>T (n.6163+1G>T) c.1162+1G>T (n.1162+1G>T) c.*1926+1G>T (n.*1926+1G>T) c.1470+1G>T n.283+1G>T | |
15 | g.48441720C= | CA2175508579 | FBN1 | c.6163+1G= (n.6163+1G=) c.1162+1G= (n.1162+1G=) c.*1926+1G= (n.*1926+1G=) c.1470+1G= n.283+1G= | |
15 | g.48441720C>G | CA392337855 | FBN1 | c.6163+1G>C (n.6163+1G>C) c.1162+1G>C (n.1162+1G>C) c.*1926+1G>C (n.*1926+1G>C) c.1470+1G>C n.283+1G>C | |
15 | g.48441720C>T | CA392337857 | FBN1 | c.6163+1G>A (n.6163+1G>A) c.1162+1G>A (n.1162+1G>A) c.*1926+1G>A (n.*1926+1G>A) c.1470+1G>A n.283+1G>A | ClinVar dbSNP |
15 | g.48441721del | CA2695220188 | FBN1 | c.6163+1del c.1162+1del c.*1926+1del c.1470+1del n.283+1del | |
15 | g.48441720_48441846delinsCCTTGGCACCTTCTTCCACTGGAGGACAAGGAAAACCCTTCTGGACACAGACATTTGAAGCTGCCTTCAGTGTTACTGCATGTGCCCAGGGCACAAATTTCTGGCTCTTCGACACACTCATCAATAT | CA2175508586 | FBN1 | c.6038_6163+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.1037_1162+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.*1801_*1926+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.1345_1470+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG n.158_283+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG | |
15 | g.48441721C>A | CA392337862 | FBN1 | c.6163G>T (p.Asp2055Tyr) c.1162G>T (p.Asp388Tyr) c.*1926G>T (n.*1926G>T) c.1470G>T n.283G>T | |
15 | g.48441721C>G | CA392337865 | FBN1 | c.6163G>C (p.Asp2055His) c.1162G>C (p.Asp388His) c.*1926G>C (n.*1926G>C) c.1470G>C n.283G>C | |
15 | g.48441721C>T | CA392337867 | FBN1 | c.6163G>A (p.Asp2055Asn) c.1162G>A (p.Asp388Asn) c.*1926G>A (n.*1926G>A) c.1470G>A n.283G>A | |
15 | g.48441723_48441848del | CA658824940 | FBN1 | c.6038_6163del c.1037_1162del c.*1801_*1926del c.1345_1470del n.158_283del | ClinVar dbSNP |
15 | g.48441722T>A | CA392337869 | FBN1 | c.6162A>T (p.Gln2054His) c.1161A>T (p.Gln387His) c.*1925A>T (n.*1925A>T) c.1469A>T n.282A>T | |
15 | g.48441722T>C | CA490021242 | FBN1 | c.6162A>G (p.Gln2054=) c.1161A>G (p.Gln387=) c.*1925A>G (n.*1925A>G) c.1469A>G n.282A>G | ClinVar |
15 | g.48441722T>G | CA392337872 | FBN1 | c.6162A>C (p.Gln2054His) c.1161A>C (p.Gln387His) c.*1925A>C (n.*1925A>C) c.1469A>C n.282A>C | |
15 | g.48441723T>A | CA392337876 | FBN1 | c.6161A>T (p.Gln2054Leu) c.1160A>T (p.Gln387Leu) c.*1924A>T (n.*1924A>T) c.1468A>T n.281A>T | |
15 | g.48441723T>C | CA392337877 | FBN1 | c.6161A>G (p.Gln2054Arg) c.1160A>G (p.Gln387Arg) c.*1924A>G (n.*1924A>G) c.1468A>G n.281A>G | ClinVar dbSNP gnomAD v4 |
15 | g.48441723T>G | CA392337881 | FBN1 | c.6161A>C (p.Gln2054Pro) c.1160A>C (p.Gln387Pro) c.*1924A>C (n.*1924A>C) c.1468A>C n.281A>C | |
15 | g.48441723T= | CA2175508593 | FBN1 | c.6161A= (p.Gln2054=) c.1160A= (p.Gln387=) c.*1924A= (n.*1924A=) c.1468A= n.281A= | |
15 | g.48441724G>A | CA392337890 | FBN1 | c.6160C>T (p.Gln2054Ter) c.1159C>T (p.Gln387Ter) c.*1923C>T (n.*1923C>T) c.1467C>T n.280C>T | ClinVar dbSNP |
15 | g.48441724G>C | CA392337886 | FBN1 | c.6160C>G (p.Gln2054Glu) c.1159C>G (p.Gln387Glu) c.*1923C>G (n.*1923C>G) c.1467C>G n.280C>G | |
15 | g.48441724G= | CA2175508600 | FBN1 | c.6160C= (p.Gln2054=) c.1159C= (p.Gln387=) c.*1923C= (n.*1923C=) c.1467C= n.280C= | |
15 | g.48441724G>T | CA392337884 | FBN1 | c.6160C>A (p.Gln2054Lys) c.1159C>A (p.Gln387Lys) c.*1923C>A (n.*1923C>A) c.1467C>A n.280C>A | |
15 | g.48441725G>A | CA490021256 | FBN1 | c.6159C>T (p.Cys2053=) c.1158C>T (p.Cys386=) c.*1922C>T (n.*1922C>T) c.1466C>T n.279C>T | |
15 | g.48441725G>C | CA392337894 | FBN1 | c.6159C>G (p.Cys2053Trp) c.1158C>G (p.Cys386Trp) c.*1922C>G (n.*1922C>G) c.1466C>G n.279C>G | |
15 | g.48441725G= | CA2175508607 | FBN1 | c.6159C= (p.Cys2053=) c.1158C= (p.Cys386=) c.*1922C= (n.*1922C=) c.1466C= n.279C= | |
15 | g.48441725G>T | CA16614635 | FBN1 | c.6159C>A (p.Cys2053Ter) c.1158C>A (p.Cys386Ter) c.*1922C>A (n.*1922C>A) c.1466C>A n.279C>A | ClinVar dbSNP |
15 | g.48441726C>A | CA269530687 | FBN1 | c.6158G>T (p.Cys2053Phe) c.1157G>T (p.Cys386Phe) c.*1921G>T (n.*1921G>T) c.1465G>T n.278G>T | dbSNP |
15 | g.48441726C= | CA2175508618 | FBN1 | c.6158G= (p.Cys2053=) c.1157G= (p.Cys386=) c.*1921G= (n.*1921G=) c.1465G= n.278G= | |
15 | g.48441726C>G | CA392337900 | FBN1 | c.6158G>C (p.Cys2053Ser) c.1157G>C (p.Cys386Ser) c.*1921G>C (n.*1921G>C) c.1465G>C n.278G>C | |
15 | g.48441726C>T | CA392337901 | FBN1 | c.6158G>A (p.Cys2053Tyr) c.1157G>A (p.Cys386Tyr) c.*1921G>A (n.*1921G>A) c.1465G>A n.278G>A | ClinVar dbSNP |
15 | g.48441727A>C | CA392337903 | FBN1 | c.6157T>G (p.Cys2053Gly) c.1156T>G (p.Cys386Gly) c.*1920T>G (n.*1920T>G) c.1464T>G n.277T>G | |
15 | g.48441727A>G | CA392337905 | FBN1 | c.6157T>C (p.Cys2053Arg) c.1156T>C (p.Cys386Arg) c.*1920T>C (n.*1920T>C) c.1464T>C n.277T>C | |
15 | g.48441727A>T | CA392337917 | FBN1 | c.6157T>A (p.Cys2053Ser) c.1156T>A (p.Cys386Ser) c.*1920T>A (n.*1920T>A) c.1464T>A n.277T>A | ClinVar |
15 | g.48441728C>A | CA392337921 | FBN1 | c.6156G>T (p.Arg2052Ser) c.1155G>T (p.Arg385Ser) c.*1919G>T (n.*1919G>T) c.1463G>T n.276G>T | |
15 | g.48441728C>G | CA392337923 | FBN1 | c.6156G>C (p.Arg2052Ser) c.1155G>C (p.Arg385Ser) c.*1919G>C (n.*1919G>C) c.1463G>C n.276G>C | |
15 | g.48441728C>T | CA490021289 | FBN1 | c.6156G>A (p.Arg2052=) c.1155G>A (p.Arg385=) c.*1919G>A (n.*1919G>A) c.1463G>A n.276G>A | ClinVar |
15 | g.48441729C>A | CA392337926 | FBN1 | c.6155G>T (p.Arg2052Met) c.1154G>T (p.Arg385Met) c.*1918G>T (n.*1918G>T) c.1462G>T n.275G>T | |
15 | g.48441729C= | CA2175508624 | FBN1 | c.6155G= (p.Arg2052=) c.1154G= (p.Arg385=) c.*1918G= (n.*1918G=) c.1462G= n.275G= | |
15 | g.48441729C>G | CA392337929 | FBN1 | c.6155G>C (p.Arg2052Thr) c.1154G>C (p.Arg385Thr) c.*1918G>C (n.*1918G>C) c.1462G>C n.275G>C | |
15 | g.48441729C>T | CA392337932 | FBN1 | c.6155G>A (p.Arg2052Lys) c.1154G>A (p.Arg385Lys) c.*1918G>A (n.*1918G>A) c.1462G>A n.275G>A | dbSNP gnomAD v2 |
15 | g.48441730T>A | CA392337939 | FBN1 | c.6154A>T (p.Arg2052Trp) c.1153A>T (p.Arg385Trp) c.*1917A>T (n.*1917A>T) c.1461A>T n.274A>T | |
15 | g.48441730T>C | CA392337937 | FBN1 | c.6154A>G (p.Arg2052Gly) c.1153A>G (p.Arg385Gly) c.*1917A>G (n.*1917A>G) c.1461A>G n.274A>G | |
15 | g.48441730T>G | CA490021299 | FBN1 | c.6154A>C (p.Arg2052=) c.1153A>C (p.Arg385=) c.*1917A>C (n.*1917A>C) c.1461A>C n.274A>C | |
15 | g.48441731T>A | CA392337943 | FBN1 | c.6153A>T (p.Arg2051Ser) c.1152A>T (p.Arg384Ser) c.*1916A>T (n.*1916A>T) c.1460A>T n.273A>T | |
15 | g.48441731T>C | CA490021307 | FBN1 | c.6153A>G (p.Arg2051=) c.1152A>G (p.Arg384=) c.*1916A>G (n.*1916A>G) c.1460A>G n.273A>G | |
15 | g.48441731T>G | CA392337946 | FBN1 | c.6153A>C (p.Arg2051Ser) c.1152A>C (p.Arg384Ser) c.*1916A>C (n.*1916A>C) c.1460A>C n.273A>C | |
15 | g.48441732C>A | CA392337950 | FBN1 | c.6152G>T (p.Arg2051Ile) c.1151G>T (p.Arg384Ile) c.*1915G>T (n.*1915G>T) c.1459G>T n.272G>T | |
15 | g.48441732C>G | CA392337952 | FBN1 | c.6152G>C (p.Arg2051Thr) c.1151G>C (p.Arg384Thr) c.*1915G>C (n.*1915G>C) c.1459G>C n.272G>C | |
15 | g.48441732C>T | CA392337956 | FBN1 | c.6152G>A (p.Arg2051Lys) c.1151G>A (p.Arg384Lys) c.*1915G>A (n.*1915G>A) c.1459G>A n.272G>A | COSMIC |
15 | g.48441733T>A | CA392337958 | FBN1 | c.6151A>T (p.Arg2051Ter) c.1150A>T (p.Arg384Ter) c.*1914A>T (n.*1914A>T) c.1458A>T n.271A>T | ClinVar |
15 | g.48441733T>C | CA392337960 | FBN1 | c.6151A>G (p.Arg2051Gly) c.1150A>G (p.Arg384Gly) c.*1914A>G (n.*1914A>G) c.1458A>G n.271A>G | |
15 | g.48441733T>G | CA490021325 | FBN1 | c.6151A>C (p.Arg2051=) c.1150A>C (p.Arg384=) c.*1914A>C (n.*1914A>C) c.1458A>C n.271A>C | |
15 | g.48441734dup | CA2580089652 | FBN1 | c.6151dup (p.Arg2051LysfsTer16) c.1150dup (p.Arg384LysfsTer16) c.*1914dup (n.*1914dup) c.1458dup n.271dup | ClinVar |
15 | g.48441734del | CA2695220192 | FBN1 | c.6151del (p.Arg2051GlufsTer8) c.1150del (p.Arg384GlufsTer8) c.*1914del (n.*1914del) c.1458del n.271del | |
15 | g.48441733_48441738delinsTTCCAC | CA2175508629 | FBN1 | c.6146_6151delinsGTGGAA (p.Ser2049=) c.1145_1150delinsGTGGAA (p.Ser382=) c.*1909_*1914delinsGTGGAA (n.*1909_*1914delinsGTGGAA) c.1453_1458delinsGTGGAA n.266_271delinsGTGGAA | |
15 | g.48441734T>A | CA490021328 | FBN1 | c.6150A>T (p.Gly2050=) c.1149A>T (p.Gly383=) c.*1913A>T (n.*1913A>T) c.1457A>T n.270A>T | |
15 | g.48441734T>C | CA490021331 | FBN1 | c.6150A>G (p.Gly2050=) c.1149A>G (p.Gly383=) c.*1913A>G (n.*1913A>G) c.1457A>G n.270A>G | |
15 | g.48441734T>G | CA490021332 | FBN1 | c.6150A>C (p.Gly2050=) c.1149A>C (p.Gly383=) c.*1913A>C (n.*1913A>C) c.1457A>C n.270A>C | gnomAD v4 |
15 | g.48441734_48441735delinsTC | CA2175508634 | FBN1 | c.6149_6150delinsGA (p.Gly2050=) c.1148_1149delinsGA (p.Gly383=) c.*1912_*1913delinsGA (n.*1912_*1913delinsGA) c.1456_1457delinsGA n.269_270delinsGA | |
15 | g.48441735_48441739del | CA658798331 | FBN1 | c.6146_6150del (p.Ser2049LysfsTer16) c.1145_1149del (p.Ser382LysfsTer16) c.*1909_*1913del (n.*1909_*1913del) c.1453_1457del n.266_270del | ClinVar dbSNP |
15 | g.48441735C>A | CA392337966 | FBN1 | c.6149G>T (p.Gly2050Val) c.1148G>T (p.Gly383Val) c.*1912G>T (n.*1912G>T) c.1456G>T n.269G>T | |
15 | g.48441735C>G | CA392337968 | FBN1 | c.6149G>C (p.Gly2050Ala) c.1148G>C (p.Gly383Ala) c.*1912G>C (n.*1912G>C) c.1456G>C n.269G>C | |
15 | g.48441735C>T | CA392337971 | FBN1 | c.6149G>A (p.Gly2050Glu) c.1148G>A (p.Gly383Glu) c.*1912G>A (n.*1912G>A) c.1456G>A n.269G>A | |
15 | g.48441736del | CA915946650 | FBN1 | c.6149del (p.Gly2050GlufsTer9) c.1148del (p.Gly383GlufsTer9) c.*1912del (n.*1912del) c.1456del n.269del | ClinVar dbSNP |
15 | g.48441736C>A | CA392337975 | FBN1 | c.6148G>T (p.Gly2050Ter) c.1147G>T (p.Gly383Ter) c.*1911G>T (n.*1911G>T) c.1455G>T n.268G>T | |
15 | g.48441736C>G | CA392337980 | FBN1 | c.6148G>C (p.Gly2050Arg) c.1147G>C (p.Gly383Arg) c.*1911G>C (n.*1911G>C) c.1455G>C n.268G>C | |
15 | g.48441736C>T | CA392337982 | FBN1 | c.6148G>A (p.Gly2050Arg) c.1147G>A (p.Gly383Arg) c.*1911G>A (n.*1911G>A) c.1455G>A n.268G>A | |
15 | g.48441737A= | CA2175508651 | FBN1 | c.6147T= (p.Ser2049=) c.1146T= (p.Ser382=) c.*1910T= (n.*1910T=) c.1454T= n.267T= | |
15 | g.48441737A>C | CA392337990 | FBN1 | c.6147T>G (p.Ser2049Arg) c.1146T>G (p.Ser382Arg) c.*1910T>G (n.*1910T>G) c.1454T>G n.267T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48441737A>G | CA056289 | FBN1 | c.6147T>C (p.Ser2049=) c.1146T>C (p.Ser382=) c.*1910T>C (n.*1910T>C) c.1454T>C n.267T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48441737A>T | CA269530690 | FBN1 | c.6147T>A (p.Ser2049Arg) c.1146T>A (p.Ser382Arg) c.*1910T>A (n.*1910T>A) c.1454T>A n.267T>A | ClinVar dbSNP |
15 | g.48441738C>A | CA392337998 | FBN1 | c.6146G>T (p.Ser2049Ile) c.1145G>T (p.Ser382Ile) c.*1909G>T (n.*1909G>T) c.1453G>T n.266G>T | |
15 | g.48441738C>G | CA392337995 | FBN1 | c.6146G>C (p.Ser2049Thr) c.1145G>C (p.Ser382Thr) c.*1909G>C (n.*1909G>C) c.1453G>C n.266G>C | |
15 | g.48441738C>T | CA392338000 | FBN1 | c.6146G>A (p.Ser2049Asn) c.1145G>A (p.Ser382Asn) c.*1909G>A (n.*1909G>A) c.1453G>A n.266G>A | |
15 | g.48441739del | CA2740096628 | FBN1 | c.6145del (p.Ser2049ValfsTer10) c.1144del (p.Ser382ValfsTer10) c.*1908del (n.*1908del) c.1452del n.265del | ClinVar |
15 | g.48441739T>A | CA392338003 | FBN1 | c.6145A>T (p.Ser2049Cys) c.1144A>T (p.Ser382Cys) c.*1908A>T (n.*1908A>T) c.1452A>T n.265A>T | |
15 | g.48441739T>C | CA392338004 | FBN1 | c.6145A>G (p.Ser2049Gly) c.1144A>G (p.Ser382Gly) c.*1908A>G (n.*1908A>G) c.1452A>G n.265A>G | ClinVar dbSNP |
15 | g.48441739T>G | CA392338005 | FBN1 | c.6145A>C (p.Ser2049Arg) c.1144A>C (p.Ser382Arg) c.*1908A>C (n.*1908A>C) c.1452A>C n.265A>C | ClinVar dbSNP |
15 | g.48441739T= | CA2175508661 | FBN1 | c.6145A= (p.Ser2049=) c.1144A= (p.Ser382=) c.*1908A= (n.*1908A=) c.1452A= n.265A= | |
15 | g.48441740G>A | CA490021360 | FBN1 | c.6144C>T (p.Ser2048=) c.1143C>T (p.Ser381=) c.*1907C>T (n.*1907C>T) c.1451C>T n.264C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48441740G>C | CA490021356 | FBN1 | c.6144C>G (p.Ser2048=) c.1143C>G (p.Ser381=) c.*1907C>G (n.*1907C>G) c.1451C>G n.264C>G | |
15 | g.48441740G= | CA2175508665 | FBN1 | c.6144C= (p.Ser2048=) c.1143C= (p.Ser381=) c.*1907C= (n.*1907C=) c.1451C= n.264C= | |
15 | g.48441740G>T | CA490021355 | FBN1 | c.6144C>A (p.Ser2048=) c.1143C>A (p.Ser381=) c.*1907C>A (n.*1907C>A) c.1451C>A n.264C>A | |
15 | g.48441741G>A | CA392338006 | FBN1 | c.6143C>T (p.Ser2048Phe) c.1142C>T (p.Ser381Phe) c.*1906C>T (n.*1906C>T) c.1450C>T n.263C>T | ClinVar dbSNP gnomAD v4 |
15 | g.48441741G>C | CA392338008 | FBN1 | c.6143C>G (p.Ser2048Cys) c.1142C>G (p.Ser381Cys) c.*1906C>G (n.*1906C>G) c.1450C>G n.263C>G | |
15 | g.48441741G= | CA2175508670 | FBN1 | c.6143C= (p.Ser2048=) c.1142C= (p.Ser381=) c.*1906C= (n.*1906C=) c.1450C= n.263C= | |
15 | g.48441741G>T | CA392338010 | FBN1 | c.6143C>A (p.Ser2048Tyr) c.1142C>A (p.Ser381Tyr) c.*1906C>A (n.*1906C>A) c.1450C>A n.263C>A | |
15 | g.48441742A>C | CA392338020 | FBN1 | c.6142T>G (p.Ser2048Ala) c.1141T>G (p.Ser381Ala) c.*1905T>G (n.*1905T>G) c.1449T>G n.262T>G | |
15 | g.48441742A>G | CA392338022 | FBN1 | c.6142T>C (p.Ser2048Pro) c.1141T>C (p.Ser381Pro) c.*1905T>C (n.*1905T>C) c.1449T>C n.262T>C | |
15 | g.48441742A>T | CA392338024 | FBN1 | c.6142T>A (p.Ser2048Thr) c.1141T>A (p.Ser381Thr) c.*1905T>A (n.*1905T>A) c.1449T>A n.262T>A | |
15 | g.48441743G>A | CA490021385 | FBN1 | c.6141C>T (p.Ser2047=) c.1140C>T (p.Ser380=) c.*1904C>T (n.*1904C>T) c.1448C>T n.261C>T | ClinVar dbSNP gnomAD v4 |
15 | g.48441743G>C | CA490021390 | FBN1 | c.6141C>G (p.Ser2047=) c.1140C>G (p.Ser380=) c.*1904C>G (n.*1904C>G) c.1448C>G n.261C>G | ClinVar |
15 | g.48441743G>T | CA490021388 | FBN1 | c.6141C>A (p.Ser2047=) c.1140C>A (p.Ser380=) c.*1904C>A (n.*1904C>A) c.1448C>A n.261C>A | |
15 | g.48441744G>A | CA16614801 | FBN1 | c.6140C>T (p.Ser2047Phe) c.1139C>T (p.Ser380Phe) c.*1903C>T (n.*1903C>T) c.1447C>T n.260C>T | ClinVar dbSNP gnomAD v4 |
15 | g.48441744G>C | CA392338027 | FBN1 | c.6140C>G (p.Ser2047Cys) c.1139C>G (p.Ser380Cys) c.*1903C>G (n.*1903C>G) c.1447C>G n.260C>G | |
15 | g.48441744G= | CA2175508684 | FBN1 | c.6140C= (p.Ser2047=) c.1139C= (p.Ser380=) c.*1903C= (n.*1903C=) c.1447C= n.260C= | |
15 | g.48441744G>T | CA392338030 | FBN1 | c.6140C>A (p.Ser2047Tyr) c.1139C>A (p.Ser380Tyr) c.*1903C>A (n.*1903C>A) c.1447C>A n.260C>A | |
15 | g.48441744_48441745delinsGA | CA2175508681 | FBN1 | c.6139_6140delinsTC (p.Ser2047=) c.1138_1139delinsTC (p.Ser380=) c.*1902_*1903delinsTC (n.*1902_*1903delinsTC) c.1446_1447delinsTC n.259_260delinsTC | |
15 | g.48441745del | CA916082413 | FBN1 | c.6139del (p.Ser2047ProfsTer12) c.1138del (p.Ser380ProfsTer12) c.*1902del (n.*1902del) c.1446del n.259del | ClinVar dbSNP |
15 | g.48441745A= | CA2175508699 | FBN1 | c.6139T= (p.Ser2047=) c.1138T= (p.Ser380=) c.*1902T= (n.*1902T=) c.1446T= n.259T= | |
15 | g.48441745A>C | CA392338036 | FBN1 | c.6139T>G (p.Ser2047Ala) c.1138T>G (p.Ser380Ala) c.*1902T>G (n.*1902T>G) c.1446T>G n.259T>G | |
15 | g.48441745A>G | CA392338032 | FBN1 | c.6139T>C (p.Ser2047Pro) c.1138T>C (p.Ser380Pro) c.*1902T>C (n.*1902T>C) c.1446T>C n.259T>C | ClinVar dbSNP COSMIC |
15 | g.48441745A>T | CA392338034 | FBN1 | c.6139T>A (p.Ser2047Thr) c.1138T>A (p.Ser380Thr) c.*1902T>A (n.*1902T>A) c.1446T>A n.259T>A | |
15 | g.48441746C>A | CA392338039 | FBN1 | c.6138G>T (p.Leu2046Phe) c.1137G>T (p.Leu379Phe) c.*1901G>T (n.*1901G>T) c.1445G>T n.258G>T | gnomAD v4 |
15 | g.48441746C>G | CA392338045 | FBN1 | c.6138G>C (p.Leu2046Phe) c.1137G>C (p.Leu379Phe) c.*1901G>C (n.*1901G>C) c.1445G>C n.258G>C | |
15 | g.48441746C>T | CA490021418 | FBN1 | c.6138G>A (p.Leu2046=) c.1137G>A (p.Leu379=) c.*1901G>A (n.*1901G>A) c.1445G>A n.258G>A | |
15 | g.48441747A>C | CA392338046 | FBN1 | c.6137T>G (p.Leu2046Trp) c.1136T>G (p.Leu379Trp) c.*1900T>G (n.*1900T>G) c.1444T>G n.257T>G | gnomAD v4 |
15 | g.48441747A>G | CA392338048 | FBN1 | c.6137T>C (p.Leu2046Ser) c.1136T>C (p.Leu379Ser) c.*1900T>C (n.*1900T>C) c.1444T>C n.257T>C | |
15 | g.48441747A>T | CA392338050 | FBN1 | c.6137T>A (p.Leu2046Ter) c.1136T>A (p.Leu379Ter) c.*1900T>A (n.*1900T>A) c.1444T>A n.257T>A | |
15 | g.48441748A= | CA2175508719 | FBN1 | c.6136T= (p.Leu2046=) c.1135T= (p.Leu379=) c.*1899T= (n.*1899T=) c.1443T= n.256T= | |
15 | g.48441748A>C | CA392338054 | FBN1 | c.6136T>G (p.Leu2046Val) c.1135T>G (p.Leu379Val) c.*1899T>G (n.*1899T>G) c.1443T>G n.256T>G | |
15 | g.48441748A>G | CA056281 | FBN1 | c.6136T>C (p.Leu2046=) c.1135T>C (p.Leu379=) c.*1899T>C (n.*1899T>C) c.1443T>C n.256T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48441748A>T | CA392338057 | FBN1 | c.6136T>A (p.Leu2046Met) c.1135T>A (p.Leu379Met) c.*1899T>A (n.*1899T>A) c.1443T>A n.256T>A | |
15 | g.48441749G>A | CA490021441 | FBN1 | c.6135C>T (p.Ser2045=) c.1134C>T (p.Ser378=) c.*1898C>T (n.*1898C>T) c.1442C>T n.255C>T | dbSNP |
15 | g.48441749G>C | CA490021443 | FBN1 | c.6135C>G (p.Ser2045=) c.1134C>G (p.Ser378=) c.*1898C>G (n.*1898C>G) c.1442C>G n.255C>G | |
15 | g.48441749G= | CA2175508725 | FBN1 | c.6135C= (p.Ser2045=) c.1134C= (p.Ser378=) c.*1898C= (n.*1898C=) c.1442C= n.255C= | |
15 | g.48441749G>T | CA490021445 | FBN1 | c.6135C>A (p.Ser2045=) c.1134C>A (p.Ser378=) c.*1898C>A (n.*1898C>A) c.1442C>A n.255C>A | |
15 | g.48441750G>A | CA392338060 | FBN1 | c.6134C>T (p.Ser2045Phe) c.1133C>T (p.Ser378Phe) c.*1897C>T (n.*1897C>T) c.1441C>T n.254C>T | ClinVar dbSNP |
15 | g.48441750G>C | CA392338063 | FBN1 | c.6134C>G (p.Ser2045Cys) c.1133C>G (p.Ser378Cys) c.*1897C>G (n.*1897C>G) c.1441C>G n.254C>G | |
15 | g.48441750G= | CA2175508731 | FBN1 | c.6134C= (p.Ser2045=) c.1133C= (p.Ser378=) c.*1897C= (n.*1897C=) c.1441C= n.254C= | |
15 | g.48441750G>T | CA392338065 | FBN1 | c.6134C>A (p.Ser2045Tyr) c.1133C>A (p.Ser378Tyr) c.*1897C>A (n.*1897C>A) c.1441C>A n.254C>A | |
15 | g.48441751A>C | CA392338071 | FBN1 | c.6133T>G (p.Ser2045Ala) c.1132T>G (p.Ser378Ala) c.*1896T>G (n.*1896T>G) c.1440T>G n.253T>G | |
15 | g.48441751A>G | CA392338072 | FBN1 | c.6133T>C (p.Ser2045Pro) c.1132T>C (p.Ser378Pro) c.*1896T>C (n.*1896T>C) c.1440T>C n.253T>C | gnomAD v4 |
15 | g.48441751A>T | CA392338069 | FBN1 | c.6133T>A (p.Ser2045Thr) c.1132T>A (p.Ser378Thr) c.*1896T>A (n.*1896T>A) c.1440T>A n.253T>A | |
15 | g.48441752A>C | CA392338077 | FBN1 | c.6132T>G (p.Phe2044Leu) c.1131T>G (p.Phe377Leu) c.*1895T>G (n.*1895T>G) c.1439T>G n.252T>G | |
15 | g.48441752A>G | CA490021468 | FBN1 | c.6132T>C (p.Phe2044=) c.1131T>C (p.Phe377=) c.*1895T>C (n.*1895T>C) c.1439T>C n.252T>C | gnomAD v4 |
15 | g.48441752A>T | CA392338080 | FBN1 | c.6132T>A (p.Phe2044Leu) c.1131T>A (p.Phe377Leu) c.*1895T>A (n.*1895T>A) c.1439T>A n.252T>A | |
15 | g.48441753A>C | CA392338082 | FBN1 | c.6131T>G (p.Phe2044Cys) c.1130T>G (p.Phe377Cys) c.*1894T>G (n.*1894T>G) c.1438T>G n.251T>G | |
15 | g.48441753A>G | CA392338084 | FBN1 | c.6131T>C (p.Phe2044Ser) c.1130T>C (p.Phe377Ser) c.*1894T>C (n.*1894T>C) c.1438T>C n.251T>C | |
15 | g.48441753A>T | CA392338087 | FBN1 | c.6131T>A (p.Phe2044Tyr) c.1130T>A (p.Phe377Tyr) c.*1894T>A (n.*1894T>A) c.1438T>A n.251T>A | |
15 | g.48441753_48441763delinsAACCCTTCTGG | CA2175508738 | FBN1 | c.6121_6131delinsCCAGAAGGGTT (p.Pro2041=) c.1120_1130delinsCCAGAAGGGTT (p.Pro374=) c.*1884_*1894delinsCCAGAAGGGTT (n.*1884_*1894delinsCCAGAAGGGTT) c.1428_1438delinsCCAGAAGGGTT n.241_251delinsCCAGAAGGGTT | |
15 | g.48441754A= | CA2175508752 | FBN1 | c.6130T= (p.Phe2044=) c.1129T= (p.Phe377=) c.*1893T= (n.*1893T=) c.1437T= n.250T= | |
15 | g.48441754A>C | CA392338092 | FBN1 | c.6130T>G (p.Phe2044Val) c.1129T>G (p.Phe377Val) c.*1893T>G (n.*1893T>G) c.1437T>G n.250T>G | ClinVar dbSNP gnomAD v4 COSMIC |
15 | g.48441754A>G | CA392338094 | FBN1 | c.6130T>C (p.Phe2044Leu) c.1129T>C (p.Phe377Leu) c.*1893T>C (n.*1893T>C) c.1437T>C n.250T>C | |
15 | g.48441754A>T | CA392338097 | FBN1 | c.6130T>A (p.Phe2044Ile) c.1129T>A (p.Phe377Ile) c.*1893T>A (n.*1893T>A) c.1437T>A n.250T>A | |
15 | g.48441754_48441755delinsAC | CA2175508749 | FBN1 | c.6129_6130delinsGT (p.Gly2043=) c.1128_1129delinsGT (p.Gly376=) c.*1892_*1893delinsGT (n.*1892_*1893delinsGT) c.1436_1437delinsGT n.249_250delinsGT | |
15 | g.48441756_48441765del | CA916082414 | FBN1 | c.6121_6130del (p.Pro2041PhefsTer15) c.1120_1129del (p.Pro374PhefsTer15) c.*1884_*1893del (n.*1884_*1893del) c.1428_1437del n.241_250del | ClinVar dbSNP |
15 | g.48441755C>A | CA490021483 | FBN1 | c.6129G>T (p.Gly2043=) c.1128G>T (p.Gly376=) c.*1892G>T (n.*1892G>T) c.1436G>T n.249G>T | ClinVar |
15 | g.48441755C= | CA2175508771 | FBN1 | c.6129G= (p.Gly2043=) c.1128G= (p.Gly376=) c.*1892G= (n.*1892G=) c.1436G= n.249G= | |
15 | g.48441755C>G | CA056272 | FBN1 | c.6129G>C (p.Gly2043=) c.1128G>C (p.Gly376=) c.*1892G>C (n.*1892G>C) c.1436G>C n.249G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48441755C>T | CA490021488 | FBN1 | c.6129G>A (p.Gly2043=) c.1128G>A (p.Gly376=) c.*1892G>A (n.*1892G>A) c.1436G>A n.249G>A | gnomAD v4 |
15 | g.48441757del | CA016254 | FBN1 | c.6129del (p.Ser2045ProfsTer14) c.1128del (p.Ser378ProfsTer14) c.*1892del (n.*1892del) c.1436del n.249del | ClinVar dbSNP |
15 | g.48441756C>A | CA392338102 | FBN1 | c.6128G>T (p.Gly2043Val) c.1127G>T (p.Gly376Val) c.*1891G>T (n.*1891G>T) c.1435G>T n.248G>T | |
15 | g.48441756C>G | CA392338106 | FBN1 | c.6128G>C (p.Gly2043Ala) c.1127G>C (p.Gly376Ala) c.*1891G>C (n.*1891G>C) c.1435G>C n.248G>C | |
15 | g.48441756C>T | CA392338109 | FBN1 | c.6128G>A (p.Gly2043Glu) c.1127G>A (p.Gly376Glu) c.*1891G>A (n.*1891G>A) c.1435G>A n.248G>A | |
15 | g.48441757C>A | CA392338114 | FBN1 | c.6127G>T (p.Gly2043Trp) c.1126G>T (p.Gly376Trp) c.*1890G>T (n.*1890G>T) c.1434G>T n.247G>T | |
15 | g.48441757C= | CA2175508778 | FBN1 | c.6127G= (p.Gly2043=) c.1126G= (p.Gly376=) c.*1890G= (n.*1890G=) c.1434G= n.247G= | |
15 | g.48441757C>G | CA392338112 | FBN1 | c.6127G>C (p.Gly2043Arg) c.1126G>C (p.Gly376Arg) c.*1890G>C (n.*1890G>C) c.1434G>C n.247G>C | |
15 | g.48441757C>T | CA269530712 | FBN1 | c.6127G>A (p.Gly2043Arg) c.1126G>A (p.Gly376Arg) c.*1890G>A (n.*1890G>A) c.1434G>A n.247G>A | dbSNP |
15 | g.48441758T>A | CA392338117 | FBN1 | c.6126A>T (p.Glu2042Asp) c.1125A>T (p.Glu375Asp) c.*1889A>T (n.*1889A>T) c.1433A>T n.246A>T | |
15 | g.48441758T>C | CA490021516 | FBN1 | c.6126A>G (p.Glu2042=) c.1125A>G (p.Glu375=) c.*1889A>G (n.*1889A>G) c.1433A>G n.246A>G | |
15 | g.48441758T>G | CA392338120 | FBN1 | c.6126A>C (p.Glu2042Asp) c.1125A>C (p.Glu375Asp) c.*1889A>C (n.*1889A>C) c.1433A>C n.246A>C | |
15 | g.48441759del | CA2740096629 | FBN1 | c.6126del (p.Ser2045ProfsTer14) c.1125del (p.Ser378ProfsTer14) c.*1889del (n.*1889del) c.1433del n.246del | ClinVar |
15 | g.48441759T>A | CA392338124 | FBN1 | c.6125A>T (p.Glu2042Val) c.1124A>T (p.Glu375Val) c.*1888A>T (n.*1888A>T) c.1432A>T n.245A>T | |
15 | g.48441759T>C | CA392338127 | FBN1 | c.6125A>G (p.Glu2042Gly) c.1124A>G (p.Glu375Gly) c.*1888A>G (n.*1888A>G) c.1432A>G n.245A>G | |
15 | g.48441759T>G | CA392338129 | FBN1 | c.6125A>C (p.Glu2042Ala) c.1124A>C (p.Glu375Ala) c.*1888A>C (n.*1888A>C) c.1432A>C n.245A>C | |
15 | g.48441760C>A | CA392338132 | FBN1 | c.6124G>T (p.Glu2042Ter) c.1123G>T (p.Glu375Ter) c.*1887G>T (n.*1887G>T) c.1431G>T n.244G>T | |
15 | g.48441760C= | CA2175508781 | FBN1 | c.6124G= (p.Glu2042=) c.1123G= (p.Glu375=) c.*1887G= (n.*1887G=) c.1431G= n.244G= | |
15 | g.48441760C>G | CA392338134 | FBN1 | c.6124G>C (p.Glu2042Gln) c.1123G>C (p.Glu375Gln) c.*1887G>C (n.*1887G>C) c.1431G>C n.244G>C | |
15 | g.48441760C>T | CA392338137 | FBN1 | c.6124G>A (p.Glu2042Lys) c.1123G>A (p.Glu375Lys) c.*1887G>A (n.*1887G>A) c.1431G>A n.244G>A | dbSNP COSMIC |
15 | g.48441761T>A | CA490021523 | FBN1 | c.6123A>T (p.Pro2041=) c.1122A>T (p.Pro374=) c.*1886A>T (n.*1886A>T) c.1430A>T n.243A>T | |
15 | g.48441761T>C | CA490021524 | FBN1 | c.6123A>G (p.Pro2041=) c.1122A>G (p.Pro374=) c.*1886A>G (n.*1886A>G) c.1430A>G n.243A>G | ClinVar gnomAD v4 |
15 | g.48441761T>G | CA490021526 | FBN1 | c.6123A>C (p.Pro2041=) c.1122A>C (p.Pro374=) c.*1886A>C (n.*1886A>C) c.1430A>C n.243A>C | |
15 | g.48441762G>A | CA392338141 | FBN1 | c.6122C>T (p.Pro2041Leu) c.1121C>T (p.Pro374Leu) c.*1885C>T (n.*1885C>T) c.1429C>T n.242C>T | ClinVar |
15 | g.48441762G>C | CA392338142 | FBN1 | c.6122C>G (p.Pro2041Arg) c.1121C>G (p.Pro374Arg) c.*1885C>G (n.*1885C>G) c.1429C>G n.242C>G | |
15 | g.48441762G>T | CA392338145 | FBN1 | c.6122C>A (p.Pro2041Gln) c.1121C>A (p.Pro374Gln) c.*1885C>A (n.*1885C>A) c.1429C>A n.242C>A | |
15 | g.48441763G>A | CA392338150 | FBN1 | c.6121C>T (p.Pro2041Ser) c.1120C>T (p.Pro374Ser) c.*1884C>T (n.*1884C>T) c.1428C>T n.241C>T | gnomAD v4 |
15 | g.48441763G>C | CA392338152 | FBN1 | c.6121C>G (p.Pro2041Ala) c.1120C>G (p.Pro374Ala) c.*1884C>G (n.*1884C>G) c.1428C>G n.241C>G | |
15 | g.48441763G>T | CA392338156 | FBN1 | c.6121C>A (p.Pro2041Thr) c.1120C>A (p.Pro374Thr) c.*1884C>A (n.*1884C>A) c.1428C>A n.241C>A | |
15 | g.48441763_48441765delinsGAC | CA2175508786 | FBN1 | c.6119_6121delinsGTC (p.Cys2040=) c.1118_1120delinsGTC (p.Cys373=) c.*1882_*1884delinsGTC (n.*1882_*1884delinsGTC) c.1426_1428delinsGTC n.239_241delinsGTC | |
15 | g.48441764A= | CA2175508811 | FBN1 | c.6120T= (p.Cys2040=) c.1119T= (p.Cys373=) c.*1883T= (n.*1883T=) c.1427T= n.240T= | |
15 | g.48441764A>C | CA392338159 | FBN1 | c.6120T>G (p.Cys2040Trp) c.1119T>G (p.Cys373Trp) c.*1883T>G (n.*1883T>G) c.1427T>G n.240T>G | ClinVar |
15 | g.48441764A>G | CA016244 | FBN1 | c.6120T>C (p.Cys2040=) c.1119T>C (p.Cys373=) c.*1883T>C (n.*1883T>C) c.1427T>C n.240T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48441764A>T | CA392338158 | FBN1 | c.6120T>A (p.Cys2040Ter) c.1119T>A (p.Cys373Ter) c.*1883T>A (n.*1883T>A) c.1427T>A n.240T>A | |
15 | g.48441767_48441768del | CA16042960 | FBN1 | c.6119_6120del (p.Cys2040SerfsTer26) c.1118_1119del (p.Cys373SerfsTer26) c.*1882_*1883del (n.*1882_*1883del) c.1426_1427del n.239_240del | ClinVar dbSNP |
15 | g.48441765C>A | CA392338163 | FBN1 | c.6119G>T (p.Cys2040Phe) c.1118G>T (p.Cys373Phe) c.*1882G>T (n.*1882G>T) c.1426G>T n.239G>T | ClinVar |
15 | g.48441765C= | CA2175508820 | FBN1 | c.6119G= (p.Cys2040=) c.1118G= (p.Cys373=) c.*1882G= (n.*1882G=) c.1426G= n.239G= | |
15 | g.48441765C>G | CA392338164 | FBN1 | c.6119G>C (p.Cys2040Ser) c.1118G>C (p.Cys373Ser) c.*1882G>C (n.*1882G>C) c.1426G>C n.239G>C | |
15 | g.48441765C>T | CA016237 | FBN1 | c.6119G>A (p.Cys2040Tyr) c.1118G>A (p.Cys373Tyr) c.*1882G>A (n.*1882G>A) c.1426G>A n.239G>A | ClinVar dbSNP |
15 | g.48441766A= | CA2175508830 | FBN1 | c.6118T= (p.Cys2040=) c.1117T= (p.Cys373=) c.*1881T= (n.*1881T=) c.1425T= n.238T= | |
15 | g.48441766A>C | CA392338169 | FBN1 | c.6118T>G (p.Cys2040Gly) c.1117T>G (p.Cys373Gly) c.*1881T>G (n.*1881T>G) c.1425T>G n.238T>G | |
15 | g.48441766A>G | CA392338170 | FBN1 | c.6118T>C (p.Cys2040Arg) c.1117T>C (p.Cys373Arg) c.*1881T>C (n.*1881T>C) c.1425T>C n.238T>C | ClinVar dbSNP |
15 | g.48441766A>T | CA392338173 | FBN1 | c.6118T>A (p.Cys2040Ser) c.1117T>A (p.Cys373Ser) c.*1881T>A (n.*1881T>A) c.1425T>A n.238T>A | |
15 | g.48441767C>A | CA490021546 | FBN1 | c.6117G>T (p.Leu2039=) c.1116G>T (p.Leu372=) c.*1880G>T (n.*1880G>T) c.1424G>T n.237G>T | |
15 | g.48441767C>G | CA490021548 | FBN1 | c.6117G>C (p.Leu2039=) c.1116G>C (p.Leu372=) c.*1880G>C (n.*1880G>C) c.1424G>C n.237G>C | |
15 | g.48441767C>T | CA490021550 | FBN1 | c.6117G>A (p.Leu2039=) c.1116G>A (p.Leu372=) c.*1880G>A (n.*1880G>A) c.1424G>A n.237G>A | gnomAD v4 |
15 | g.48441768A>C | CA392338176 | FBN1 | c.6116T>G (p.Leu2039Arg) c.1115T>G (p.Leu372Arg) c.*1879T>G (n.*1879T>G) c.1423T>G n.236T>G | |
15 | g.48441768A>G | CA392338178 | FBN1 | c.6116T>C (p.Leu2039Pro) c.1115T>C (p.Leu372Pro) c.*1879T>C (n.*1879T>C) c.1423T>C n.236T>C | |
15 | g.48441768A>T | CA392338181 | FBN1 | c.6116T>A (p.Leu2039Gln) c.1115T>A (p.Leu372Gln) c.*1879T>A (n.*1879T>A) c.1423T>A n.236T>A | |
15 | g.48441769G>A | CA490021555 | FBN1 | c.6115C>T (p.Leu2039=) c.1114C>T (p.Leu372=) c.*1878C>T (n.*1878C>T) c.1422C>T n.235C>T | |
15 | g.48441769G>C | CA392338185 | FBN1 | c.6115C>G (p.Leu2039Val) c.1114C>G (p.Leu372Val) c.*1878C>G (n.*1878C>G) c.1422C>G n.235C>G | |
15 | g.48441769G>T | CA392338188 | FBN1 | c.6115C>A (p.Leu2039Met) c.1114C>A (p.Leu372Met) c.*1878C>A (n.*1878C>A) c.1422C>A n.235C>A | |
15 | g.48441770A>C | CA392338190 | FBN1 | c.6114T>G (p.Cys2038Trp) c.1113T>G (p.Cys371Trp) c.*1877T>G (n.*1877T>G) c.1421T>G n.234T>G | |
15 | g.48441770A>G | CA490021562 | FBN1 | c.6114T>C (p.Cys2038=) c.1113T>C (p.Cys371=) c.*1877T>C (n.*1877T>C) c.1421T>C n.234T>C | |
15 | g.48441770A>T | CA392338193 | FBN1 | c.6114T>A (p.Cys2038Ter) c.1113T>A (p.Cys371Ter) c.*1877T>A (n.*1877T>A) c.1421T>A n.234T>A | |
15 | g.48441771del | CA2573150944 | FBN1 | c.6113del (p.Cys2038PhefsTer21) c.1112del (p.Cys371PhefsTer21) c.*1876del (n.*1876del) c.1420del n.233del | ClinVar dbSNP |
15 | g.48441771C>A | CA392338201 | FBN1 | c.6113G>T (p.Cys2038Phe) c.1112G>T (p.Cys371Phe) c.*1876G>T (n.*1876G>T) c.1420G>T n.233G>T | ClinVar |
15 | g.48441771C= | CA2175508838 | FBN1 | c.6113G= (p.Cys2038=) c.1112G= (p.Cys371=) c.*1876G= (n.*1876G=) c.1420G= n.233G= | |
15 | g.48441771C>G | CA392338198 | FBN1 | c.6113G>C (p.Cys2038Ser) c.1112G>C (p.Cys371Ser) c.*1876G>C (n.*1876G>C) c.1420G>C n.233G>C | ClinVar dbSNP |
15 | g.48441771C>T | CA269530715 | FBN1 | c.6113G>A (p.Cys2038Tyr) c.1112G>A (p.Cys371Tyr) c.*1876G>A (n.*1876G>A) c.1420G>A n.233G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48441772A= | CA2175508851 | FBN1 | c.6112T= (p.Cys2038=) c.1111T= (p.Cys371=) c.*1875T= (n.*1875T=) c.1419T= n.232T= | |
15 | g.48441772A>C | CA16619946 | FBN1 | c.6112T>G (p.Cys2038Gly) c.1111T>G (p.Cys371Gly) c.*1875T>G (n.*1875T>G) c.1419T>G n.232T>G | ClinVar dbSNP |
15 | g.48441772A>G | CA392338206 | FBN1 | c.6112T>C (p.Cys2038Arg) c.1111T>C (p.Cys371Arg) c.*1875T>C (n.*1875T>C) c.1419T>C n.232T>C | |
15 | g.48441772A>T | CA392338209 | FBN1 | c.6112T>A (p.Cys2038Ser) c.1111T>A (p.Cys371Ser) c.*1875T>A (n.*1875T>A) c.1419T>A n.232T>A | |
15 | g.48441773T>A | CA392338213 | FBN1 | c.6111A>T (p.Lys2037Asn) c.1110A>T (p.Lys370Asn) c.*1874A>T (n.*1874A>T) c.1418A>T n.231A>T | |
15 | g.48441773T>C | CA056263 | FBN1 | c.6111A>G (p.Lys2037=) c.1110A>G (p.Lys370=) c.*1874A>G (n.*1874A>G) c.1418A>G n.231A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48441773T>G | CA392338217 | FBN1 | c.6111A>C (p.Lys2037Asn) c.1110A>C (p.Lys370Asn) c.*1874A>C (n.*1874A>C) c.1418A>C n.231A>C | |
15 | g.48441773T= | CA2175508854 | FBN1 | c.6111A= (p.Lys2037=) c.1110A= (p.Lys370=) c.*1874A= (n.*1874A=) c.1418A= n.231A= | |
15 | g.48441774T>A | CA392338221 | FBN1 | c.6110A>T (p.Lys2037Ile) c.1109A>T (p.Lys370Ile) c.*1873A>T (n.*1873A>T) c.1417A>T n.230A>T | |
15 | g.48441774T>C | CA056253 | FBN1 | c.6110A>G (p.Lys2037Arg) c.1109A>G (p.Lys370Arg) c.*1873A>G (n.*1873A>G) c.1417A>G n.230A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48441774T>G | CA056248 | FBN1 | c.6110A>C (p.Lys2037Thr) c.1109A>C (p.Lys370Thr) c.*1873A>C (n.*1873A>C) c.1417A>C n.230A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48441774T= | CA2175508858 | FBN1 | c.6110A= (p.Lys2037=) c.1109A= (p.Lys370=) c.*1873A= (n.*1873A=) c.1417A= n.230A= | |
15 | g.48441775T>A | CA392338227 | FBN1 | c.6109A>T (p.Lys2037Ter) c.1108A>T (p.Lys370Ter) c.*1872A>T (n.*1872A>T) c.1416A>T n.229A>T | |
15 | g.48441775T>C | CA392338230 | FBN1 | c.6109A>G (p.Lys2037Glu) c.1108A>G (p.Lys370Glu) c.*1872A>G (n.*1872A>G) c.1416A>G n.229A>G | |
15 | g.48441775T>G | CA392338237 | FBN1 | c.6109A>C (p.Lys2037Gln) c.1108A>C (p.Lys370Gln) c.*1872A>C (n.*1872A>C) c.1416A>C n.229A>C | |
15 | g.48441776G>A | CA490021582 | FBN1 | c.6108C>T (p.Phe2036=) c.1107C>T (p.Phe369=) c.*1871C>T (n.*1871C>T) c.1415C>T n.228C>T | |
15 | g.48441776G>C | CA392338238 | FBN1 | c.6108C>G (p.Phe2036Leu) c.1107C>G (p.Phe369Leu) c.*1871C>G (n.*1871C>G) c.1415C>G n.228C>G | |
15 | g.48441776G>T | CA392338240 | FBN1 | c.6108C>A (p.Phe2036Leu) c.1107C>A (p.Phe369Leu) c.*1871C>A (n.*1871C>A) c.1415C>A n.228C>A | |
15 | g.48441777A>C | CA392338249 | FBN1 | c.6107T>G (p.Phe2036Cys) c.1106T>G (p.Phe369Cys) c.*1870T>G (n.*1870T>G) c.1414T>G n.227T>G | |
15 | g.48441777A>G | CA392338246 | FBN1 | c.6107T>C (p.Phe2036Ser) c.1106T>C (p.Phe369Ser) c.*1870T>C (n.*1870T>C) c.1414T>C n.227T>C | |
15 | g.48441777A>T | CA392338244 | FBN1 | c.6107T>A (p.Phe2036Tyr) c.1106T>A (p.Phe369Tyr) c.*1870T>A (n.*1870T>A) c.1414T>A n.227T>A | |
15 | g.48441778A= | CA2175508873 | FBN1 | c.6106T= (p.Phe2036=) c.1105T= (p.Phe369=) c.*1869T= (n.*1869T=) c.1413T= n.226T= | |
15 | g.48441778A>C | CA392338253 | FBN1 | c.6106T>G (p.Phe2036Val) c.1105T>G (p.Phe369Val) c.*1869T>G (n.*1869T>G) c.1413T>G n.226T>G | |
15 | g.48441778A>G | CA392338256 | FBN1 | c.6106T>C (p.Phe2036Leu) c.1105T>C (p.Phe369Leu) c.*1869T>C (n.*1869T>C) c.1413T>C n.226T>C | ClinVar dbSNP |
15 | g.48441778A>T | CA392338258 | FBN1 | c.6106T>A (p.Phe2036Ile) c.1105T>A (p.Phe369Ile) c.*1869T>A (n.*1869T>A) c.1413T>A n.226T>A | |
15 | g.48441779G>A | CA490021588 | FBN1 | c.6105C>T (p.Ser2035=) c.1104C>T (p.Ser368=) c.*1868C>T (n.*1868C>T) c.1412C>T n.225C>T | ClinVar dbSNP |
15 | g.48441779G>C | CA392338260 | FBN1 | c.6105C>G (p.Ser2035Arg) c.1104C>G (p.Ser368Arg) c.*1868C>G (n.*1868C>G) c.1412C>G n.225C>G | |
15 | g.48441779G= | CA2175508880 | FBN1 | c.6105C= (p.Ser2035=) c.1104C= (p.Ser368=) c.*1868C= (n.*1868C=) c.1412C= n.225C= | |
15 | g.48441779G>T | CA392338262 | FBN1 | c.6105C>A (p.Ser2035Arg) c.1104C>A (p.Ser368Arg) c.*1868C>A (n.*1868C>A) c.1412C>A n.225C>A | |
15 | g.48441780C>A | CA392338265 | FBN1 | c.6104G>T (p.Ser2035Ile) c.1103G>T (p.Ser368Ile) c.*1867G>T (n.*1867G>T) c.1411G>T n.224G>T | |
15 | g.48441780C>G | CA392338268 | FBN1 | c.6104G>C (p.Ser2035Thr) c.1103G>C (p.Ser368Thr) c.*1867G>C (n.*1867G>C) c.1411G>C n.224G>C | |
15 | g.48441780C>T | CA392338270 | FBN1 | c.6104G>A (p.Ser2035Asn) c.1103G>A (p.Ser368Asn) c.*1867G>A (n.*1867G>A) c.1411G>A n.224G>A | |
15 | g.48441781T>A | CA392338275 | FBN1 | c.6103A>T (p.Ser2035Cys) c.1102A>T (p.Ser368Cys) c.*1866A>T (n.*1866A>T) c.1410A>T n.223A>T | |
15 | g.48441781T>C | CA392338279 | FBN1 | c.6103A>G (p.Ser2035Gly) c.1102A>G (p.Ser368Gly) c.*1866A>G (n.*1866A>G) c.1410A>G n.223A>G | |
15 | g.48441781T>G | CA392338277 | FBN1 | c.6103A>C (p.Ser2035Arg) c.1102A>C (p.Ser368Arg) c.*1866A>C (n.*1866A>C) c.1410A>C n.223A>C | |
15 | g.48441782G>A | CA056241 | FBN1 | c.6102C>T (p.Gly2034=) c.1101C>T (p.Gly367=) c.*1865C>T (n.*1865C>T) c.1409C>T n.222C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48441782G>C | CA490021590 | FBN1 | c.6102C>G (p.Gly2034=) c.1101C>G (p.Gly367=) c.*1865C>G (n.*1865C>G) c.1409C>G n.222C>G | |
15 | g.48441782G= | CA2175508884 | FBN1 | c.6102C= (p.Gly2034=) c.1101C= (p.Gly367=) c.*1865C= (n.*1865C=) c.1409C= n.222C= | |
15 | g.48441782G>T | CA490021591 | FBN1 | c.6102C>A (p.Gly2034=) c.1101C>A (p.Gly367=) c.*1865C>A (n.*1865C>A) c.1409C>A n.222C>A | |
15 | g.48441783C>A | CA392338284 | FBN1 | c.6101G>T (p.Gly2034Val) c.1100G>T (p.Gly367Val) c.*1864G>T (n.*1864G>T) c.1408G>T n.221G>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48441783C= | CA2175508890 | FBN1 | c.6101G= (p.Gly2034=) c.1100G= (p.Gly367=) c.*1864G= (n.*1864G=) c.1408G= n.221G= | |
15 | g.48441783C>G | CA392338287 | FBN1 | c.6101G>C (p.Gly2034Ala) c.1100G>C (p.Gly367Ala) c.*1864G>C (n.*1864G>C) c.1408G>C n.221G>C | |
15 | g.48441783C>T | CA392338289 | FBN1 | c.6101G>A (p.Gly2034Asp) c.1100G>A (p.Gly367Asp) c.*1864G>A (n.*1864G>A) c.1408G>A n.221G>A | |
15 | g.48441784C>A | CA392338293 | FBN1 | c.6100G>T (p.Gly2034Cys) c.1099G>T (p.Gly367Cys) c.*1863G>T (n.*1863G>T) c.1407G>T n.220G>T | |
15 | g.48441784C>G | CA392338299 | FBN1 | c.6100G>C (p.Gly2034Arg) c.1099G>C (p.Gly367Arg) c.*1863G>C (n.*1863G>C) c.1407G>C n.220G>C | |
15 | g.48441784C>T | CA392338296 | FBN1 | c.6100G>A (p.Gly2034Ser) c.1099G>A (p.Gly367Ser) c.*1863G>A (n.*1863G>A) c.1407G>A n.220G>A | |
15 | g.48441785T>A | CA392338306 | FBN1 | c.6099A>T (p.Glu2033Asp) c.1098A>T (p.Glu366Asp) c.*1862A>T (n.*1862A>T) c.1406A>T n.219A>T | |
15 | g.48441785T>C | CA490021594 | FBN1 | c.6099A>G (p.Glu2033=) c.1098A>G (p.Glu366=) c.*1862A>G (n.*1862A>G) c.1406A>G n.219A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48441785T>G | CA392338309 | FBN1 | c.6099A>C (p.Glu2033Asp) c.1098A>C (p.Glu366Asp) c.*1862A>C (n.*1862A>C) c.1406A>C n.219A>C | |
15 | g.48441785T= | CA2175508898 | FBN1 | c.6099A= (p.Glu2033=) c.1098A= (p.Glu366=) c.*1862A= (n.*1862A=) c.1406A= n.219A= | |
15 | g.48441786T>A | CA392338313 | FBN1 | c.6098A>T (p.Glu2033Val) c.1097A>T (p.Glu366Val) c.*1861A>T (n.*1861A>T) c.1405A>T n.218A>T | |
15 | g.48441786T>C | CA392338315 | FBN1 | c.6098A>G (p.Glu2033Gly) c.1097A>G (p.Glu366Gly) c.*1861A>G (n.*1861A>G) c.1405A>G n.218A>G | |
15 | g.48441786T>G | CA392338318 | FBN1 | c.6098A>C (p.Glu2033Ala) c.1097A>C (p.Glu366Ala) c.*1861A>C (n.*1861A>C) c.1405A>C n.218A>C | |
15 | g.48441787C>A | CA392338321 | FBN1 | c.6097G>T (p.Glu2033Ter) c.1096G>T (p.Glu366Ter) c.*1860G>T (n.*1860G>T) c.1404G>T n.217G>T | |
15 | g.48441787C= | CA2175508909 | FBN1 | c.6097G= (p.Glu2033=) c.1096G= (p.Glu366=) c.*1860G= (n.*1860G=) c.1404G= n.217G= | |
15 | g.48441787C>G | CA392338323 | FBN1 | c.6097G>C (p.Glu2033Gln) c.1096G>C (p.Glu366Gln) c.*1860G>C (n.*1860G>C) c.1404G>C n.217G>C | |
15 | g.48441787C>T | CA392338325 | FBN1 | c.6097G>A (p.Glu2033Lys) c.1096G>A (p.Glu366Lys) c.*1860G>A (n.*1860G>A) c.1404G>A n.217G>A | ClinVar dbSNP |
15 | g.48441788A>C | CA490021596 | FBN1 | c.6096T>G (p.Thr2032=) c.1095T>G (p.Thr365=) c.*1859T>G (n.*1859T>G) c.1403T>G n.216T>G | |
15 | g.48441788A>G | CA490021598 | FBN1 | c.6096T>C (p.Thr2032=) c.1095T>C (p.Thr365=) c.*1859T>C (n.*1859T>C) c.1403T>C n.216T>C | |
15 | g.48441788A>T | CA490021599 | FBN1 | c.6096T>A (p.Thr2032=) c.1095T>A (p.Thr365=) c.*1859T>A (n.*1859T>A) c.1403T>A n.216T>A | ClinVar |
15 | g.48441789G>A | CA392338330 | FBN1 | c.6095C>T (p.Thr2032Ile) c.1094C>T (p.Thr365Ile) c.*1858C>T (n.*1858C>T) c.1402C>T n.215C>T | gnomAD v4 |
15 | g.48441789G>C | CA056223 | FBN1 | c.6095C>G (p.Thr2032Ser) c.1094C>G (p.Thr365Ser) c.*1858C>G (n.*1858C>G) c.1402C>G n.215C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48441789G= | CA2175508913 | FBN1 | c.6095C= (p.Thr2032=) c.1094C= (p.Thr365=) c.*1858C= (n.*1858C=) c.1402C= n.215C= | |
15 | g.48441789G>T | CA392338332 | FBN1 | c.6095C>A (p.Thr2032Asn) c.1094C>A (p.Thr365Asn) c.*1858C>A (n.*1858C>A) c.1402C>A n.215C>A | |
15 | g.48441790T>A | CA056215 | FBN1 | c.6094A>T (p.Thr2032Ser) c.1093A>T (p.Thr365Ser) c.*1857A>T (n.*1857A>T) c.1401A>T n.214A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48441790T>C | CA392338340 | FBN1 | c.6094A>G (p.Thr2032Ala) c.1093A>G (p.Thr365Ala) c.*1857A>G (n.*1857A>G) c.1401A>G n.214A>G | ClinVar |
15 | g.48441790T>G | CA392338338 | FBN1 | c.6094A>C (p.Thr2032Pro) c.1093A>C (p.Thr365Pro) c.*1857A>C (n.*1857A>C) c.1401A>C n.214A>C | |
15 | g.48441790T= | CA2175508922 | FBN1 | c.6094A= (p.Thr2032=) c.1093A= (p.Thr365=) c.*1857A= (n.*1857A=) c.1401A= n.214A= | |
15 | g.48441791G>A | CA490021602 | FBN1 | c.6093C>T (p.Asn2031=) c.1092C>T (p.Asn364=) c.*1856C>T (n.*1856C>T) c.1400C>T n.213C>T | |
15 | g.48441791G>C | CA392338344 | FBN1 | c.6093C>G (p.Asn2031Lys) c.1092C>G (p.Asn364Lys) c.*1856C>G (n.*1856C>G) c.1400C>G n.213C>G | |
15 | g.48441791G>T | CA392338346 | FBN1 | c.6093C>A (p.Asn2031Lys) c.1092C>A (p.Asn364Lys) c.*1856C>A (n.*1856C>A) c.1400C>A n.213C>A | |
15 | g.48441792T>A | CA392338350 | FBN1 | c.6092A>T (p.Asn2031Ile) c.1091A>T (p.Asn364Ile) c.*1855A>T (n.*1855A>T) c.1399A>T n.212A>T | |
15 | g.48441792T>C | CA392338352 | FBN1 | c.6092A>G (p.Asn2031Ser) c.1091A>G (p.Asn364Ser) c.*1855A>G (n.*1855A>G) c.1399A>G n.212A>G | |
15 | g.48441792T>G | CA392338355 | FBN1 | c.6092A>C (p.Asn2031Thr) c.1091A>C (p.Asn364Thr) c.*1855A>C (n.*1855A>C) c.1399A>C n.212A>C | |
15 | g.48441793T>A | CA392338357 | FBN1 | c.6091A>T (p.Asn2031Tyr) c.1090A>T (p.Asn364Tyr) c.*1854A>T (n.*1854A>T) c.1398A>T n.211A>T | |
15 | g.48441793T>C | CA392338360 | FBN1 | c.6091A>G (p.Asn2031Asp) c.1090A>G (p.Asn364Asp) c.*1854A>G (n.*1854A>G) c.1398A>G n.211A>G | |
15 | g.48441793T>G | CA392338363 | FBN1 | c.6091A>C (p.Asn2031His) c.1090A>C (p.Asn364His) c.*1854A>C (n.*1854A>C) c.1398A>C n.211A>C | |
15 | g.48441793T= | CA2175508925 | FBN1 | c.6091A= (p.Asn2031=) c.1090A= (p.Asn364=) c.*1854A= (n.*1854A=) c.1398A= n.211A= | |
15 | g.48441794A>C | CA392338366 | FBN1 | c.6090T>G (p.Ser2030Arg) c.1089T>G (p.Ser363Arg) c.*1853T>G (n.*1853T>G) c.1397T>G n.210T>G | |
15 | g.48441794A>G | CA490021607 | FBN1 | c.6090T>C (p.Ser2030=) c.1089T>C (p.Ser363=) c.*1853T>C (n.*1853T>C) c.1397T>C n.210T>C | |
15 | g.48441794A>T | CA392338369 | FBN1 | c.6090T>A (p.Ser2030Arg) c.1089T>A (p.Ser363Arg) c.*1853T>A (n.*1853T>A) c.1397T>A n.210T>A | |
15 | g.48441794dup | CA645584726 | FBN1 | c.6090dup (p.Asn2031Ter) c.1089dup (p.Asn364Ter) c.*1853dup (n.*1853dup) c.1397dup n.210dup | ClinVar dbSNP COSMIC |
15 | g.48441795C>A | CA392338372 | FBN1 | c.6089G>T (p.Ser2030Ile) c.1088G>T (p.Ser363Ile) c.*1852G>T (n.*1852G>T) c.1396G>T n.209G>T | |
15 | g.48441795C= | CA2175508932 | FBN1 | c.6089G= (p.Ser2030=) c.1088G= (p.Ser363=) c.*1852G= (n.*1852G=) c.1396G= n.209G= | |
15 | g.48441795C>G | CA056208 | FBN1 | c.6089G>C (p.Ser2030Thr) c.1088G>C (p.Ser363Thr) c.*1852G>C (n.*1852G>C) c.1396G>C n.209G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48441795C>T | CA392338376 | FBN1 | c.6089G>A (p.Ser2030Asn) c.1088G>A (p.Ser363Asn) c.*1852G>A (n.*1852G>A) c.1396G>A n.209G>A | |
15 | g.48441796T>A | CA392338388 | FBN1 | c.6088A>T (p.Ser2030Cys) c.1087A>T (p.Ser363Cys) c.*1851A>T (n.*1851A>T) c.1395A>T n.208A>T | |
15 | g.48441796T>C | CA392338383 | FBN1 | c.6088A>G (p.Ser2030Gly) c.1087A>G (p.Ser363Gly) c.*1851A>G (n.*1851A>G) c.1395A>G n.208A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48441796T>G | CA392338382 | FBN1 | c.6088A>C (p.Ser2030Arg) c.1087A>C (p.Ser363Arg) c.*1851A>C (n.*1851A>C) c.1395A>C n.208A>C | |
15 | g.48441796T= | CA2175508939 | FBN1 | c.6088A= (p.Ser2030=) c.1087A= (p.Ser363=) c.*1851A= (n.*1851A=) c.1395A= n.208A= |