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 |
|---|---|---|---|---|---|
| 16 | g.77335784A>C | CA396831855 | ADAMTS18 | c.1831T>G (p.Phe611Val) c.-85T>G (n.-85T>G) c.1315T>G (p.Phe439Val) c.595T>G (p.Phe199Val) | |
| 16 | g.77335784A>G | CA396831857 | ADAMTS18 | c.1831T>C (p.Phe611Leu) c.-85T>C (n.-85T>C) c.1315T>C (p.Phe439Leu) c.595T>C (p.Phe199Leu) | |
| 16 | g.77335784A>T | CA396831858 | ADAMTS18 | c.1831T>A (p.Phe611Ile) c.-85T>A (n.-85T>A) c.1315T>A (p.Phe439Ile) c.595T>A (p.Phe199Ile) | |
| 16 | g.77335785C>A | CA8181148 | ADAMTS18 | c.1830G>T (p.Lys610Asn) c.-86G>T (n.-86G>T) c.1314G>T (p.Lys438Asn) c.594G>T (p.Lys198Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.77335785C= | CA2234406037 | ADAMTS18 | c.1830G= (p.Lys610=) c.-86G= (n.-86G=) c.1314G= (p.Lys438=) c.594G= (p.Lys198=) | |
| 16 | g.77335785C>G | CA396831862 | ADAMTS18 | c.1830G>C (p.Lys610Asn) c.-86G>C (n.-86G>C) c.1314G>C (p.Lys438Asn) c.594G>C (p.Lys198Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.77335785C>T | CA496590122 | ADAMTS18 | c.1830G>A (p.Lys610=) c.-86G>A (n.-86G>A) c.1314G>A (p.Lys438=) c.594G>A (p.Lys198=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.77335786T>A | CA396831863 | ADAMTS18 | c.1829A>T (p.Lys610Met) c.-87A>T (n.-87A>T) c.1313A>T (p.Lys438Met) c.593A>T (p.Lys198Met) | |
| 16 | g.77335786T>C | CA8181149 | ADAMTS18 | c.1829A>G (p.Lys610Arg) c.-87A>G (n.-87A>G) c.1313A>G (p.Lys438Arg) c.593A>G (p.Lys198Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.77335786T>G | CA396831864 | ADAMTS18 | c.1829A>C (p.Lys610Thr) c.-87A>C (n.-87A>C) c.1313A>C (p.Lys438Thr) c.593A>C (p.Lys198Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.77335786T= | CA2234406038 | ADAMTS18 | c.1829A= (p.Lys610=) c.-87A= (n.-87A=) c.1313A= (p.Lys438=) c.593A= (p.Lys198=) | |
| 16 | g.77335787T>A | CA396831867 | ADAMTS18 | c.1828A>T (p.Lys610Ter) c.-88A>T (n.-88A>T) c.1312A>T (p.Lys438Ter) c.592A>T (p.Lys198Ter) | gnomAD v4 |
| 16 | g.77335787T>C | CA396831869 | ADAMTS18 | c.1828A>G (p.Lys610Glu) c.-88A>G (n.-88A>G) c.1312A>G (p.Lys438Glu) c.592A>G (p.Lys198Glu) | |
| 16 | g.77335787T>G | CA396831871 | ADAMTS18 | c.1828A>C (p.Lys610Gln) c.-88A>C (n.-88A>C) c.1312A>C (p.Lys438Gln) c.592A>C (p.Lys198Gln) | gnomAD v4 |
| 16 | g.77335788G>A | CA496590131 | ADAMTS18 | c.1827C>T (p.Val609=) c.-89C>T (n.-89C>T) c.1311C>T (p.Val437=) c.591C>T (p.Val197=) | dbSNP gnomAD v4 |
| 16 | g.77335788G>C | CA496590133 | ADAMTS18 | c.1827C>G (p.Val609=) c.-89C>G (n.-89C>G) c.1311C>G (p.Val437=) c.591C>G (p.Val197=) | gnomAD v4 |
| 16 | g.77335788G= | CA2234406042 | ADAMTS18 | c.1827C= (p.Val609=) c.-89C= (n.-89C=) c.1311C= (p.Val437=) c.591C= (p.Val197=) | |
| 16 | g.77335788G>T | CA496590135 | ADAMTS18 | c.1827C>A (p.Val609=) c.-89C>A (n.-89C>A) c.1311C>A (p.Val437=) c.591C>A (p.Val197=) | |
| 16 | g.77335789A= | CA2234406044 | ADAMTS18 | c.1826T= (p.Val609=) c.-90T= (n.-90T=) c.1310T= (p.Val437=) c.590T= (p.Val197=) | |
| 16 | g.77335789A>C | CA396831874 | ADAMTS18 | c.1826T>G (p.Val609Gly) c.-90T>G (n.-90T>G) c.1310T>G (p.Val437Gly) c.590T>G (p.Val197Gly) | |
| 16 | g.77335789A>G | CA396831883 | ADAMTS18 | c.1826T>C (p.Val609Ala) c.-90T>C (n.-90T>C) c.1310T>C (p.Val437Ala) c.590T>C (p.Val197Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.77335789A>T | CA396831878 | ADAMTS18 | c.1826T>A (p.Val609Asp) c.-90T>A (n.-90T>A) c.1310T>A (p.Val437Asp) c.590T>A (p.Val197Asp) | gnomAD v4 |
| 16 | g.77335790C>A | CA396831886 | ADAMTS18 | c.1825G>T (p.Val609Phe) c.-91G>T (n.-91G>T) c.1309G>T (p.Val437Phe) c.589G>T (p.Val197Phe) | |
| 16 | g.77335790C>G | CA396831888 | ADAMTS18 | c.1825G>C (p.Val609Leu) c.-91G>C (n.-91G>C) c.1309G>C (p.Val437Leu) c.589G>C (p.Val197Leu) | |
| 16 | g.77335790C>T | CA396831892 | ADAMTS18 | c.1825G>A (p.Val609Ile) c.-91G>A (n.-91G>A) c.1309G>A (p.Val437Ile) c.589G>A (p.Val197Ile) | |
| 16 | g.77335791T>A | CA496590148 | ADAMTS18 | c.1824A>T (p.Gly608=) c.-92A>T (n.-92A>T) c.1308A>T (p.Gly436=) c.588A>T (p.Gly196=) | dbSNP |
| 16 | g.77335791T>C | CA496590146 | ADAMTS18 | c.1824A>G (p.Gly608=) c.-92A>G (n.-92A>G) c.1308A>G (p.Gly436=) c.588A>G (p.Gly196=) | |
| 16 | g.77335791T>G | CA496590144 | ADAMTS18 | c.1824A>C (p.Gly608=) c.-92A>C (n.-92A>C) c.1308A>C (p.Gly436=) c.588A>C (p.Gly196=) | |
| 16 | g.77335791T= | CA2234406046 | ADAMTS18 | c.1824A= (p.Gly608=) c.-92A= (n.-92A=) c.1308A= (p.Gly436=) c.588A= (p.Gly196=) | |
| 16 | g.77335792C>A | CA8181150 | ADAMTS18 | c.1823G>T (p.Gly608Val) c.-93G>T (n.-93G>T) c.1307G>T (p.Gly436Val) c.587G>T (p.Gly196Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.77335792C= | CA2234406049 | ADAMTS18 | c.1823G= (p.Gly608=) c.-93G= (n.-93G=) c.1307G= (p.Gly436=) c.587G= (p.Gly196=) | |
| 16 | g.77335792C>G | CA396831894 | ADAMTS18 | c.1823G>C (p.Gly608Ala) c.-93G>C (n.-93G>C) c.1307G>C (p.Gly436Ala) c.587G>C (p.Gly196Ala) | |
| 16 | g.77335792C>T | CA396831896 | ADAMTS18 | c.1823G>A (p.Gly608Glu) c.-93G>A (n.-93G>A) c.1307G>A (p.Gly436Glu) c.587G>A (p.Gly196Glu) | |
| 16 | g.77335793C>A | CA396831899 | ADAMTS18 | c.1822G>T (p.Gly608Ter) c.-94G>T (n.-94G>T) c.1306G>T (p.Gly436Ter) c.586G>T (p.Gly196Ter) | |
| 16 | g.77335793C= | CA2234406052 | ADAMTS18 | c.1822G= (p.Gly608=) c.-94G= (n.-94G=) c.1306G= (p.Gly436=) c.586G= (p.Gly196=) | |
| 16 | g.77335793C>G | CA396831902 | ADAMTS18 | c.1822G>C (p.Gly608Arg) c.-94G>C (n.-94G>C) c.1306G>C (p.Gly436Arg) c.586G>C (p.Gly196Arg) | |
| 16 | g.77335793C>T | CA396831905 | ADAMTS18 | c.1822G>A (p.Gly608Arg) c.-94G>A (n.-94G>A) c.1306G>A (p.Gly436Arg) c.586G>A (p.Gly196Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.77335794T>A | CA496590157 | ADAMTS18 | c.1821A>T (p.Gly607=) c.-95A>T (n.-95A>T) c.1305A>T (p.Gly435=) c.585A>T (p.Gly195=) | |
| 16 | g.77335794T>C | CA496590159 | ADAMTS18 | c.1821A>G (p.Gly607=) c.-95A>G (n.-95A>G) c.1305A>G (p.Gly435=) c.585A>G (p.Gly195=) | |
| 16 | g.77335794T>G | CA496590161 | ADAMTS18 | c.1821A>C (p.Gly607=) c.-95A>C (n.-95A>C) c.1305A>C (p.Gly435=) c.585A>C (p.Gly195=) | |
| 16 | g.77335795C>A | CA396831909 | ADAMTS18 | c.1820G>T (p.Gly607Val) c.-96G>T (n.-96G>T) c.1304G>T (p.Gly435Val) c.584G>T (p.Gly195Val) | |
| 16 | g.77335795C>G | CA396831910 | ADAMTS18 | c.1820G>C (p.Gly607Ala) c.-96G>C (n.-96G>C) c.1304G>C (p.Gly435Ala) c.584G>C (p.Gly195Ala) | |
| 16 | g.77335795C>T | CA396831917 | ADAMTS18 | c.1820G>A (p.Gly607Glu) c.-96G>A (n.-96G>A) c.1304G>A (p.Gly435Glu) c.584G>A (p.Gly195Glu) | |
| 16 | g.77335799_77335801del | CA2807716820 | ADAMTS18 | c.1818_1820del (p.Gly607del) c.-98_-96del (n.-98_-96del) c.1302_1304del (p.Gly435del) c.582_584del (p.Gly195del) | |
| 16 | g.77335796C>A | CA8181152 | ADAMTS18 | c.1819G>T (p.Gly607Ter) c.-97G>T (n.-97G>T) c.1303G>T (p.Gly435Ter) c.583G>T (p.Gly195Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.77335796C= | CA2234406057 | ADAMTS18 | c.1819G= (p.Gly607=) c.-97G= (n.-97G=) c.1303G= (p.Gly435=) c.583G= (p.Gly195=) | |
| 16 | g.77335796C>G | CA396831923 | ADAMTS18 | c.1819G>C (p.Gly607Arg) c.-97G>C (n.-97G>C) c.1303G>C (p.Gly435Arg) c.583G>C (p.Gly195Arg) | |
| 16 | g.77335796C>T | CA8181151 | ADAMTS18 | c.1819G>A (p.Gly607Arg) c.-97G>A (n.-97G>A) c.1303G>A (p.Gly435Arg) c.583G>A (p.Gly195Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.77335797A>C | CA496590170 | ADAMTS18 | c.1818T>G (p.Gly606=) c.-98T>G (n.-98T>G) c.1302T>G (p.Gly434=) c.582T>G (p.Gly194=) | |
| 16 | g.77335797A>G | CA496590172 | ADAMTS18 | c.1818T>C (p.Gly606=) c.-98T>C (n.-98T>C) c.1302T>C (p.Gly434=) c.582T>C (p.Gly194=) |