UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48434593C>A | CA392334564 | FBN1 | c.6616+1G>T (n.6616+1G>T) n.225+1G>T c.1615+1G>T (n.1615+1G>T) c.*2379+1G>T (n.*2379+1G>T) c.1923+1G>T | ClinVar dbSNP |
| 15 | g.48434593C= | CA2175496853 | FBN1 | c.6616+1G= (n.6616+1G=) n.225+1G= c.1615+1G= (n.1615+1G=) c.*2379+1G= (n.*2379+1G=) c.1923+1G= | |
| 15 | g.48434593C>G | CA392334565 | FBN1 | c.6616+1G>C (n.6616+1G>C) n.225+1G>C c.1615+1G>C (n.1615+1G>C) c.*2379+1G>C (n.*2379+1G>C) c.1923+1G>C | ClinVar dbSNP |
| 15 | g.48434593C>T | CA16619943 | FBN1 | c.6616+1G>A (n.6616+1G>A) n.225+1G>A c.1615+1G>A (n.1615+1G>A) c.*2379+1G>A (n.*2379+1G>A) c.1923+1G>A | ClinVar dbSNP |
| 15 | g.48434593_48434713delinsCCTTCACATGTCATCATTGGACCGGGCTCAAATCCCTCCTCGCAGGTGCATTCAAAACCTCCAATCACATTCTTGCAGGTTCCATTTCCACAAGGATTGCCAACAGAACATTCATCAGTAT | CA2175496854 | FBN1 | c.6497_6616+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG n.106_225+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG c.1496_1615+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG c.*2260_*2379+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG c.1804_1923+1delinsATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACCTGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCAATGATGACATGTGAAGG | |
| 15 | g.48434594C>A | CA392334567 | FBN1 | c.6616G>T (p.Asp2206Tyr) c.6616G>T (p.Gly2206Ter) n.225G>T c.1615G>T (p.Gly539Ter) c.*2379G>T (n.*2379G>T) c.1923G>T | |
| 15 | g.48434594C= | CA2175496868 | FBN1 | c.6616G= (p.Asp2206=) c.6616G= (p.Gly2206=) n.225G= c.1615G= (p.Gly539=) c.*2379G= (n.*2379G=) c.1923G= | |
| 15 | g.48434594C>G | CA392334569 | FBN1 | c.6616G>C (p.Asp2206His) c.6616G>C (p.Gly2206Arg) n.225G>C c.1615G>C (p.Gly539Arg) c.*2379G>C (n.*2379G>C) c.1923G>C | |
| 15 | g.48434594C>T | CA392334571 | FBN1 | c.6616G>A (p.Asp2206Asn) c.6616G>A (p.Gly2206Arg) n.225G>A c.1615G>A (p.Gly539Arg) c.*2379G>A (n.*2379G>A) c.1923G>A | ClinVar dbSNP |
| 15 | g.48434596_48434715del | CA658824936 | FBN1 | c.6497_6616del n.106_225del c.1496_1615del c.*2260_*2379del c.1804_1923del | ClinVar dbSNP |
| 15 | g.48434595T>A | CA392334572 | FBN1 | c.6615A>T (p.Glu2205Asp) n.224A>T c.1614A>T (p.Glu538Asp) c.*2378A>T (n.*2378A>T) c.1922A>T | |
| 15 | g.48434595T>C | CA490018722 | FBN1 | c.6615A>G (p.Glu2205=) n.224A>G c.1614A>G (p.Glu538=) c.*2378A>G (n.*2378A>G) c.1922A>G | ClinVar |
| 15 | g.48434595T>G | CA392334573 | FBN1 | c.6615A>C (p.Glu2205Asp) n.224A>C c.1614A>C (p.Glu538Asp) c.*2378A>C (n.*2378A>C) c.1922A>C | |
| 15 | g.48434596T>A | CA392334575 | FBN1 | c.6614A>T (p.Glu2205Val) n.223A>T c.1613A>T (p.Glu538Val) c.*2377A>T (n.*2377A>T) c.1921A>T | |
| 15 | g.48434596T>C | CA392334576 | FBN1 | c.6614A>G (p.Glu2205Gly) n.223A>G c.1613A>G (p.Glu538Gly) c.*2377A>G (n.*2377A>G) c.1921A>G | |
| 15 | g.48434596T>G | CA392334574 | FBN1 | c.6614A>C (p.Glu2205Ala) n.223A>C c.1613A>C (p.Glu538Ala) c.*2377A>C (n.*2377A>C) c.1921A>C | |
| 15 | g.48434596T= | CA2175496878 | FBN1 | c.6614A= (p.Glu2205=) n.223A= c.1613A= (p.Glu538=) c.*2377A= (n.*2377A=) c.1921A= | |
| 15 | g.48434597C>A | CA392334588 | FBN1 | c.6613G>T (p.Glu2205Ter) n.222G>T c.1612G>T (p.Glu538Ter) c.*2376G>T (n.*2376G>T) c.1920G>T | |
| 15 | g.48434597C>G | CA392334579 | FBN1 | c.6613G>C (p.Glu2205Gln) n.222G>C c.1612G>C (p.Glu538Gln) c.*2376G>C (n.*2376G>C) c.1920G>C | |
| 15 | g.48434597C>T | CA392334586 | FBN1 | c.6613G>A (p.Glu2205Lys) n.222G>A c.1612G>A (p.Glu538Lys) c.*2376G>A (n.*2376G>A) c.1920G>A | COSMIC |
| 15 | g.48434597dup | CA913190853 | FBN1 | c.6613dup (p.Glu2205GlyfsTer5) c.6613dup (p.Glu2205GlyfsTer7) n.222dup c.1612dup (p.Glu538GlyfsTer7) c.*2376dup (n.*2376dup) c.1920dup | ClinVar dbSNP |
| 15 | g.48434598A>C | CA392334592 | FBN1 | c.6612T>G (p.Cys2204Trp) n.221T>G c.1611T>G (p.Cys537Trp) c.*2375T>G (n.*2375T>G) c.1919T>G | |
| 15 | g.48434598A>G | CA490018723 | FBN1 | c.6612T>C (p.Cys2204=) n.221T>C c.1611T>C (p.Cys537=) c.*2375T>C (n.*2375T>C) c.1919T>C | |
| 15 | g.48434598A>T | CA392334595 | FBN1 | c.6612T>A (p.Cys2204Ter) n.221T>A c.1611T>A (p.Cys537Ter) c.*2375T>A (n.*2375T>A) c.1919T>A | |
| 15 | g.48434599C>A | CA392334598 | FBN1 | c.6611G>T (p.Cys2204Phe) n.220G>T c.1610G>T (p.Cys537Phe) c.*2374G>T (n.*2374G>T) c.1918G>T | ClinVar dbSNP |
| 15 | g.48434599C= | CA2175496884 | FBN1 | c.6611G= (p.Cys2204=) n.220G= c.1610G= (p.Cys537=) c.*2374G= (n.*2374G=) c.1918G= | |
| 15 | g.48434599C>G | CA392334601 | FBN1 | c.6611G>C (p.Cys2204Ser) n.220G>C c.1610G>C (p.Cys537Ser) c.*2374G>C (n.*2374G>C) c.1918G>C | ClinVar |
| 15 | g.48434599C>T | CA10587798 | FBN1 | c.6611G>A (p.Cys2204Tyr) n.220G>A c.1610G>A (p.Cys537Tyr) c.*2374G>A (n.*2374G>A) c.1918G>A | ClinVar dbSNP |
| 15 | g.48434599_48434601delinsCAT | CA2175496891 | FBN1 | c.6609_6611delinsATG (p.Thr2203=) n.218_220delinsATG c.1608_1610delinsATG (p.Thr536=) c.*2372_*2374delinsATG (n.*2372_*2374delinsATG) c.1916_1918delinsATG | |
| 15 | g.48434600A= | CA2175496901 | FBN1 | c.6610T= (p.Cys2204=) n.219T= c.1609T= (p.Cys537=) c.*2373T= (n.*2373T=) c.1917T= | |
| 15 | g.48434600A>C | CA392334608 | FBN1 | c.6610T>G (p.Cys2204Gly) n.219T>G c.1609T>G (p.Cys537Gly) c.*2373T>G (n.*2373T>G) c.1917T>G | |
| 15 | g.48434600A>G | CA392334606 | FBN1 | c.6610T>C (p.Cys2204Arg) n.219T>C c.1609T>C (p.Cys537Arg) c.*2373T>C (n.*2373T>C) c.1917T>C | ClinVar dbSNP |
| 15 | g.48434600A>T | CA392334607 | FBN1 | c.6610T>A (p.Cys2204Ser) n.219T>A c.1609T>A (p.Cys537Ser) c.*2373T>A (n.*2373T>A) c.1917T>A | |
| 15 | g.48434600_48434601del | CA658798049 | FBN1 | c.6609_6610del (p.Cys2204Ter) n.218_219del c.1608_1609del (p.Cys537Ter) c.*2372_*2373del (n.*2372_*2373del) c.1916_1917del | ClinVar dbSNP |
| 15 | g.48434601T>A | CA057061 | FBN1 | c.6609A>T (p.Thr2203=) n.218A>T c.1608A>T (p.Thr536=) c.*2372A>T (n.*2372A>T) c.1916A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48434601T>C | CA057060 | FBN1 | c.6609A>G (p.Thr2203=) n.218A>G c.1608A>G (p.Thr536=) c.*2372A>G (n.*2372A>G) c.1916A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48434601T>G | CA490018724 | FBN1 | c.6609A>C (p.Thr2203=) n.218A>C c.1608A>C (p.Thr536=) c.*2372A>C (n.*2372A>C) c.1916A>C | dbSNP |
| 15 | g.48434601T= | CA2175496915 | FBN1 | c.6609A= (p.Thr2203=) n.218A= c.1608A= (p.Thr536=) c.*2372A= (n.*2372A=) c.1916A= | |
| 15 | g.48434602G>A | CA392334612 | FBN1 | c.6608C>T (p.Thr2203Ile) n.217C>T c.1607C>T (p.Thr536Ile) c.*2371C>T (n.*2371C>T) c.1915C>T | |
| 15 | g.48434602G>C | CA392334617 | FBN1 | c.6608C>G (p.Thr2203Arg) n.217C>G c.1607C>G (p.Thr536Arg) c.*2371C>G (n.*2371C>G) c.1915C>G | |
| 15 | g.48434602G>T | CA392334618 | FBN1 | c.6608C>A (p.Thr2203Lys) n.217C>A c.1607C>A (p.Thr536Lys) c.*2371C>A (n.*2371C>A) c.1915C>A | |
| 15 | g.48434603T>A | CA392334623 | FBN1 | c.6607A>T (p.Thr2203Ser) n.216A>T c.1606A>T (p.Thr536Ser) c.*2370A>T (n.*2370A>T) c.1914A>T | |
| 15 | g.48434603T>C | CA392334628 | FBN1 | c.6607A>G (p.Thr2203Ala) n.216A>G c.1606A>G (p.Thr536Ala) c.*2370A>G (n.*2370A>G) c.1914A>G | ClinVar gnomAD v4 |
| 15 | g.48434603T>G | CA392334625 | FBN1 | c.6607A>C (p.Thr2203Pro) n.216A>C c.1606A>C (p.Thr536Pro) c.*2370A>C (n.*2370A>C) c.1914A>C | |
| 15 | g.48434604C>A | CA392334632 | FBN1 | c.6606G>T (p.Met2202Ile) n.215G>T c.1605G>T (p.Met535Ile) c.*2369G>T (n.*2369G>T) c.1913G>T | |
| 15 | g.48434604C>G | CA392334635 | FBN1 | c.6606G>C (p.Met2202Ile) n.215G>C c.1605G>C (p.Met535Ile) c.*2369G>C (n.*2369G>C) c.1913G>C | |
| 15 | g.48434604C>T | CA392334638 | FBN1 | c.6606G>A (p.Met2202Ile) n.215G>A c.1605G>A (p.Met535Ile) c.*2369G>A (n.*2369G>A) c.1913G>A | |
| 15 | g.48434605A= | CA2175496931 | FBN1 | c.6605T= (p.Met2202=) n.214T= c.1604T= (p.Met535=) c.*2368T= (n.*2368T=) c.1912T= | |
| 15 | g.48434605A>C | CA392334648 | FBN1 | c.6605T>G (p.Met2202Arg) n.214T>G c.1604T>G (p.Met535Arg) c.*2368T>G (n.*2368T>G) c.1912T>G | |
| 15 | g.48434605A>G | CA392334651 | FBN1 | c.6605T>C (p.Met2202Thr) n.214T>C c.1604T>C (p.Met535Thr) c.*2368T>C (n.*2368T>C) c.1912T>C | ClinVar gnomAD v4 |