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 |
|---|---|---|---|---|---|
| 7 | g.128851483A= | CA1742571105 | FLNC,FLNC-AS1 | c.5697A= (p.Pro1899=) c.5598A= (p.Pro1866=) n.233T= | |
| 7 | g.128851483A>C | CA457849130 | FLNC,FLNC-AS1 | c.5697A>C (p.Pro1899=) c.5598A>C (p.Pro1866=) n.233T>G | |
| 7 | g.128851483A>G | CA457849132 | FLNC,FLNC-AS1 | c.5697A>G (p.Pro1899=) c.5598A>G (p.Pro1866=) n.233T>C | ClinVar dbSNP |
| 7 | g.128851483A>T | CA457849133 | FLNC,FLNC-AS1 | c.5697A>T (p.Pro1899=) c.5598A>T (p.Pro1866=) n.233T>A | |
| 7 | g.128851483dup | CA658797015 | FLNC,FLNC-AS1 | c.5697dup (p.Ser1900IlefsTer8) c.5598dup (p.Ser1867IlefsTer8) n.233dup | ClinVar dbSNP |
| 7 | g.128851484T>A | CA369208046 | FLNC,FLNC-AS1 | c.5698T>A (p.Ser1900Thr) c.5599T>A (p.Ser1867Thr) n.232A>T | |
| 7 | g.128851484T>C | CA369208048 | FLNC,FLNC-AS1 | c.5698T>C (p.Ser1900Pro) c.5599T>C (p.Ser1867Pro) n.232A>G | ClinVar |
| 7 | g.128851484T>G | CA369208050 | FLNC,FLNC-AS1 | c.5698T>G (p.Ser1900Ala) c.5599T>G (p.Ser1867Ala) n.232A>C | |
| 7 | g.128851485C>A | CA369208052 | FLNC,FLNC-AS1 | c.5699C>A (p.Ser1900Tyr) c.5600C>A (p.Ser1867Tyr) n.231G>T | |
| 7 | g.128851485C>G | CA369208054 | FLNC,FLNC-AS1 | c.5699C>G (p.Ser1900Cys) c.5600C>G (p.Ser1867Cys) n.231G>C | gnomAD v4 |
| 7 | g.128851485C>T | CA369208056 | FLNC,FLNC-AS1 | c.5699C>T (p.Ser1900Phe) c.5600C>T (p.Ser1867Phe) n.231G>A | |
| 7 | g.128851486C>A | CA457849134 | FLNC,FLNC-AS1 | c.5700C>A (p.Ser1900=) c.5601C>A (p.Ser1867=) n.230G>T | |
| 7 | g.128851486C>G | CA457849136 | FLNC,FLNC-AS1 | c.5700C>G (p.Ser1900=) c.5601C>G (p.Ser1867=) n.230G>C | |
| 7 | g.128851486C>T | CA457849135 | FLNC,FLNC-AS1 | c.5700C>T (p.Ser1900=) c.5601C>T (p.Ser1867=) n.230G>A | |
| 7 | g.128851486_128851487insTGT | CA2580076613 | FLNC,FLNC-AS1 | c.5700_5701insTGT (p.Ser1900_Lys1901insCys) c.5601_5602insTGT (p.Ser1867_Lys1868insCys) n.229_230insACA | ClinVar |
| 7 | g.128851487A>C | CA369208062 | FLNC,FLNC-AS1 | c.5701A>C (p.Lys1901Gln) c.5602A>C (p.Lys1868Gln) n.229T>G | |
| 7 | g.128851487A>G | CA369208060 | FLNC,FLNC-AS1 | c.5701A>G (p.Lys1901Glu) c.5602A>G (p.Lys1868Glu) n.229T>C | |
| 7 | g.128851487A>T | CA369208058 | FLNC,FLNC-AS1 | c.5701A>T (p.Lys1901Ter) c.5602A>T (p.Lys1868Ter) n.229T>A | |
| 7 | g.128851488A>C | CA369208064 | FLNC,FLNC-AS1 | c.5702A>C (p.Lys1901Thr) c.5603A>C (p.Lys1868Thr) n.228T>G | COSMIC |
| 7 | g.128851488A>G | CA369208067 | FLNC,FLNC-AS1 | c.5702A>G (p.Lys1901Arg) c.5603A>G (p.Lys1868Arg) n.228T>C | |
| 7 | g.128851488A>T | CA369208066 | FLNC,FLNC-AS1 | c.5702A>T (p.Lys1901Met) c.5603A>T (p.Lys1868Met) n.228T>A | |
| 7 | g.128851488_128851489delinsAG | CA1742571110 | FLNC,FLNC-AS1 | c.5702_5703delinsAG (p.Lys1901=) c.5603_5604delinsAG (p.Lys1868=) n.227_228delinsCT | |
| 7 | g.128851489G>A | CA457849140 | FLNC,FLNC-AS1 | c.5703G>A (p.Lys1901=) c.5604G>A (p.Lys1868=) n.227C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.128851489G>C | CA369208069 | FLNC,FLNC-AS1 | c.5703G>C (p.Lys1901Asn) c.5604G>C (p.Lys1868Asn) n.227C>G | |
| 7 | g.128851489G= | CA1742571117 | FLNC,FLNC-AS1 | c.5703G= (p.Lys1901=) c.5604G= (p.Lys1868=) n.227C= | |
| 7 | g.128851489G>T | CA369208070 | FLNC,FLNC-AS1 | c.5703G>T (p.Lys1901Asn) c.5604G>T (p.Lys1868Asn) n.227C>A | |
| 7 | g.128851490del | CA645372844 | FLNC,FLNC-AS1 | c.5704del (p.Ala1902GlnfsTer?) c.5605del (p.Ala1869GlnfsTer?) n.227del | ClinVar dbSNP |
| 7 | g.128851490G>A | CA369208072 | FLNC,FLNC-AS1 | c.5704G>A (p.Ala1902Thr) c.5605G>A (p.Ala1869Thr) n.226C>T | |
| 7 | g.128851490G>C | CA369208075 | FLNC,FLNC-AS1 | c.5704G>C (p.Ala1902Pro) c.5605G>C (p.Ala1869Pro) n.226C>G | |
| 7 | g.128851490G>T | CA369208074 | FLNC,FLNC-AS1 | c.5704G>T (p.Ala1902Ser) c.5605G>T (p.Ala1869Ser) n.226C>A | |
| 7 | g.128851491C>A | CA369208078 | FLNC,FLNC-AS1 | c.5705C>A (p.Ala1902Glu) c.5606C>A (p.Ala1869Glu) n.225G>T | ClinVar |
| 7 | g.128851491C>G | CA369208080 | FLNC,FLNC-AS1 | c.5705C>G (p.Ala1902Gly) c.5606C>G (p.Ala1869Gly) n.225G>C | |
| 7 | g.128851491C>T | CA369208081 | FLNC,FLNC-AS1 | c.5705C>T (p.Ala1902Val) c.5606C>T (p.Ala1869Val) n.225G>A | |
| 7 | g.128851492A>C | CA457849149 | FLNC,FLNC-AS1 | c.5706A>C (p.Ala1902=) c.5607A>C (p.Ala1869=) n.224T>G | |
| 7 | g.128851492A>G | CA457849151 | FLNC,FLNC-AS1 | c.5706A>G (p.Ala1902=) c.5607A>G (p.Ala1869=) n.224T>C | |
| 7 | g.128851492A>T | CA457849153 | FLNC,FLNC-AS1 | c.5706A>T (p.Ala1902=) c.5607A>T (p.Ala1869=) n.224T>A | |
| 7 | g.128851493G>A | CA369208084 | FLNC,FLNC-AS1 | c.5707G>A (p.Glu1903Lys) c.5608G>A (p.Glu1870Lys) n.223C>T | gnomAD v4 |
| 7 | g.128851493G>C | CA369208086 | FLNC,FLNC-AS1 | c.5707G>C (p.Glu1903Gln) c.5608G>C (p.Glu1870Gln) n.223C>G | |
| 7 | g.128851493G>T | CA369208087 | FLNC,FLNC-AS1 | c.5707G>T (p.Glu1903Ter) c.5608G>T (p.Glu1870Ter) n.223C>A | |
| 7 | g.128851494A>C | CA369208089 | FLNC,FLNC-AS1 | c.5708A>C (p.Glu1903Ala) c.5609A>C (p.Glu1870Ala) n.222T>G | |
| 7 | g.128851494A>G | CA369208091 | FLNC,FLNC-AS1 | c.5708A>G (p.Glu1903Gly) c.5609A>G (p.Glu1870Gly) n.222T>C | |
| 7 | g.128851494A>T | CA369208092 | FLNC,FLNC-AS1 | c.5708A>T (p.Glu1903Val) c.5609A>T (p.Glu1870Val) n.222T>A | |
| 7 | g.128851495G>A | CA457849154 | FLNC,FLNC-AS1 | c.5709G>A (p.Glu1903=) c.5610G>A (p.Glu1870=) n.221C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.128851495G>C | CA369208094 | FLNC,FLNC-AS1 | c.5709G>C (p.Glu1903Asp) c.5610G>C (p.Glu1870Asp) n.221C>G | |
| 7 | g.128851495G= | CA1742571130 | FLNC,FLNC-AS1 | c.5709G= (p.Glu1903=) c.5610G= (p.Glu1870=) n.221C= | |
| 7 | g.128851495G>T | CA369208097 | FLNC,FLNC-AS1 | c.5709G>T (p.Glu1903Asp) c.5610G>T (p.Glu1870Asp) n.221C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128851496A>C | CA369208103 | FLNC,FLNC-AS1 | c.5710A>C (p.Ile1904Leu) c.5611A>C (p.Ile1871Leu) n.220T>G | |
| 7 | g.128851496A>G | CA369208099 | FLNC,FLNC-AS1 | c.5710A>G (p.Ile1904Val) c.5611A>G (p.Ile1871Val) n.220T>C | COSMIC |
| 7 | g.128851496A>T | CA369208101 | FLNC,FLNC-AS1 | c.5710A>T (p.Ile1904Phe) c.5611A>T (p.Ile1871Phe) n.220T>A | |
| 7 | g.128851497T>A | CA4475763 | FLNC,FLNC-AS1 | c.5711T>A (p.Ile1904Asn) c.5612T>A (p.Ile1871Asn) n.219A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |