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.50710825A>C | CA395867830 | NOD2 | c.833A>C (p.Lys278Thr) c.914A>C (p.Lys305Thr) n.974A>C c.410A>C (p.Lys137Thr) c.248A>C (p.Lys83Thr) n.923A>C c.341A>C (p.Lys114Thr) n.876A>C n.898A>C | |
| 16 | g.50710825A>G | CA395867832 | NOD2 | c.833A>G (p.Lys278Arg) c.914A>G (p.Lys305Arg) n.974A>G c.410A>G (p.Lys137Arg) c.248A>G (p.Lys83Arg) n.923A>G c.341A>G (p.Lys114Arg) n.876A>G n.898A>G | |
| 16 | g.50710825A>T | CA395867831 | NOD2 | c.833A>T (p.Lys278Met) c.914A>T (p.Lys305Met) n.974A>T c.410A>T (p.Lys137Met) c.248A>T (p.Lys83Met) n.923A>T c.341A>T (p.Lys114Met) n.876A>T n.898A>T | |
| 16 | g.50710826G>A | CA8051422 | NOD2 | c.834G>A (p.Lys278=) c.915G>A (p.Lys305=) n.975G>A c.411G>A (p.Lys137=) c.249G>A (p.Lys83=) n.924G>A c.342G>A (p.Lys114=) n.877G>A n.899G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50710826G>C | CA395867833 | NOD2 | c.834G>C (p.Lys278Asn) c.915G>C (p.Lys305Asn) n.975G>C c.411G>C (p.Lys137Asn) c.249G>C (p.Lys83Asn) n.924G>C c.342G>C (p.Lys114Asn) n.877G>C n.899G>C | |
| 16 | g.50710826G= | CA2221859619 | NOD2 | c.834G= (p.Lys278=) c.915G= (p.Lys305=) n.975G= c.411G= (p.Lys137=) c.249G= (p.Lys83=) n.924G= c.342G= (p.Lys114=) n.877G= n.899G= | |
| 16 | g.50710826G>T | CA395867834 | NOD2 | c.834G>T (p.Lys278Asn) c.915G>T (p.Lys305Asn) n.975G>T c.411G>T (p.Lys137Asn) c.249G>T (p.Lys83Asn) n.924G>T c.342G>T (p.Lys114Asn) n.877G>T n.899G>T | |
| 16 | g.50710827A= | CA2221859626 | NOD2 | c.835A= (p.Ser279=) c.916A= (p.Ser306=) n.976A= c.412A= (p.Ser138=) c.250A= (p.Ser84=) n.925A= c.343A= (p.Ser115=) n.878A= n.900A= | |
| 16 | g.50710827A>C | CA395867835 | NOD2 | c.835A>C (p.Ser279Arg) c.916A>C (p.Ser306Arg) n.976A>C c.412A>C (p.Ser138Arg) c.250A>C (p.Ser84Arg) n.925A>C c.343A>C (p.Ser115Arg) n.878A>C n.900A>C | dbSNP |
| 16 | g.50710827A>G | CA395867836 | NOD2 | c.835A>G (p.Ser279Gly) c.916A>G (p.Ser306Gly) n.976A>G c.412A>G (p.Ser138Gly) c.250A>G (p.Ser84Gly) n.925A>G c.343A>G (p.Ser115Gly) n.878A>G n.900A>G | |
| 16 | g.50710827A>T | CA395867837 | NOD2 | c.835A>T (p.Ser279Cys) c.916A>T (p.Ser306Cys) n.976A>T c.412A>T (p.Ser138Cys) c.250A>T (p.Ser84Cys) n.925A>T c.343A>T (p.Ser115Cys) n.878A>T n.900A>T | |
| 16 | g.50710828G>A | CA395867839 | NOD2 | c.836G>A (p.Ser279Asn) c.917G>A (p.Ser306Asn) n.977G>A c.413G>A (p.Ser138Asn) c.251G>A (p.Ser84Asn) n.926G>A c.344G>A (p.Ser115Asn) n.879G>A n.901G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50710828G>C | CA395867840 | NOD2 | c.836G>C (p.Ser279Thr) c.917G>C (p.Ser306Thr) n.977G>C c.413G>C (p.Ser138Thr) c.251G>C (p.Ser84Thr) n.926G>C c.344G>C (p.Ser115Thr) n.879G>C n.901G>C | |
| 16 | g.50710828G= | CA2221859631 | NOD2 | c.836G= (p.Ser279=) c.917G= (p.Ser306=) n.977G= c.413G= (p.Ser138=) c.251G= (p.Ser84=) n.926G= c.344G= (p.Ser115=) n.879G= n.901G= | |
| 16 | g.50710828G>T | CA395867841 | NOD2 | c.836G>T (p.Ser279Ile) c.917G>T (p.Ser306Ile) n.977G>T c.413G>T (p.Ser138Ile) c.251G>T (p.Ser84Ile) n.926G>T c.344G>T (p.Ser115Ile) n.879G>T n.901G>T | gnomAD v4 |
| 16 | g.50710829C>A | CA395867842 | NOD2 | c.837C>A (p.Ser279Arg) c.918C>A (p.Ser306Arg) n.978C>A c.414C>A (p.Ser138Arg) c.252C>A (p.Ser84Arg) n.927C>A c.345C>A (p.Ser115Arg) n.880C>A n.902C>A | |
| 16 | g.50710829C>G | CA395867843 | NOD2 | c.837C>G (p.Ser279Arg) c.918C>G (p.Ser306Arg) n.978C>G c.414C>G (p.Ser138Arg) c.252C>G (p.Ser84Arg) n.927C>G c.345C>G (p.Ser115Arg) n.880C>G n.902C>G | |
| 16 | g.50710829C>T | CA495778218 | NOD2 | c.837C>T (p.Ser279=) c.918C>T (p.Ser306=) n.978C>T c.414C>T (p.Ser138=) c.252C>T (p.Ser84=) n.927C>T c.345C>T (p.Ser115=) n.880C>T n.902C>T | gnomAD v4 |
| 16 | g.50710830A= | CA2221859635 | NOD2 | c.838A= (p.Thr280=) c.919A= (p.Thr307=) n.979A= c.415A= (p.Thr139=) c.253A= (p.Thr85=) n.928A= c.346A= (p.Thr116=) n.881A= n.903A= | |
| 16 | g.50710830A>C | CA395867846 | NOD2 | c.838A>C (p.Thr280Pro) c.919A>C (p.Thr307Pro) n.979A>C c.415A>C (p.Thr139Pro) c.253A>C (p.Thr85Pro) n.928A>C c.346A>C (p.Thr116Pro) n.881A>C n.903A>C | gnomAD v4 |
| 16 | g.50710830A>G | CA395867845 | NOD2 | c.838A>G (p.Thr280Ala) c.919A>G (p.Thr307Ala) n.979A>G c.415A>G (p.Thr139Ala) c.253A>G (p.Thr85Ala) n.928A>G c.346A>G (p.Thr116Ala) n.881A>G n.903A>G | |
| 16 | g.50710830A>T | CA395867844 | NOD2 | c.838A>T (p.Thr280Ser) c.919A>T (p.Thr307Ser) n.979A>T c.415A>T (p.Thr139Ser) c.253A>T (p.Thr85Ser) n.928A>T c.346A>T (p.Thr116Ser) n.881A>T n.903A>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.50710831C>A | CA395867847 | NOD2 | c.839C>A (p.Thr280Lys) c.920C>A (p.Thr307Lys) n.980C>A c.416C>A (p.Thr139Lys) c.254C>A (p.Thr85Lys) n.929C>A c.347C>A (p.Thr116Lys) n.882C>A n.904C>A | |
| 16 | g.50710831C= | CA2221859647 | NOD2 | c.839C= (p.Thr280=) c.920C= (p.Thr307=) n.980C= c.416C= (p.Thr139=) c.254C= (p.Thr85=) n.929C= c.347C= (p.Thr116=) n.882C= n.904C= | |
| 16 | g.50710831C>G | CA395867848 | NOD2 | c.839C>G (p.Thr280Arg) c.920C>G (p.Thr307Arg) n.980C>G c.416C>G (p.Thr139Arg) c.254C>G (p.Thr85Arg) n.929C>G c.347C>G (p.Thr116Arg) n.882C>G n.904C>G | |
| 16 | g.50710831C>T | CA8051423 | NOD2 | c.839C>T (p.Thr280Met) c.920C>T (p.Thr307Met) n.980C>T c.416C>T (p.Thr139Met) c.254C>T (p.Thr85Met) n.929C>T c.347C>T (p.Thr116Met) n.882C>T n.904C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50710832G>A | CA8051424 | NOD2 | c.840G>A (p.Thr280=) c.921G>A (p.Thr307=) n.981G>A c.417G>A (p.Thr139=) c.255G>A (p.Thr85=) n.930G>A c.348G>A (p.Thr116=) n.883G>A n.905G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50710832G>C | CA495778222 | NOD2 | c.840G>C (p.Thr280=) c.921G>C (p.Thr307=) n.981G>C c.417G>C (p.Thr139=) c.255G>C (p.Thr85=) n.930G>C c.348G>C (p.Thr116=) n.883G>C n.905G>C | gnomAD v4 |
| 16 | g.50710832G= | CA2221859654 | NOD2 | c.840G= (p.Thr280=) c.921G= (p.Thr307=) n.981G= c.417G= (p.Thr139=) c.255G= (p.Thr85=) n.930G= c.348G= (p.Thr116=) n.883G= n.905G= | |
| 16 | g.50710832G>T | CA495778221 | NOD2 | c.840G>T (p.Thr280=) c.921G>T (p.Thr307=) n.981G>T c.417G>T (p.Thr139=) c.255G>T (p.Thr85=) n.930G>T c.348G>T (p.Thr116=) n.883G>T n.905G>T | COSMIC |
| 16 | g.50710833C>A | CA395867849 | NOD2 | c.841C>A (p.Leu281Ile) c.922C>A (p.Leu308Ile) n.982C>A c.418C>A (p.Leu140Ile) c.256C>A (p.Leu86Ile) n.931C>A c.349C>A (p.Leu117Ile) n.884C>A n.906C>A | |
| 16 | g.50710833C= | CA2221859671 | NOD2 | c.841C= (p.Leu281=) c.922C= (p.Leu308=) n.982C= c.418C= (p.Leu140=) c.256C= (p.Leu86=) n.931C= c.349C= (p.Leu117=) n.884C= n.906C= | |
| 16 | g.50710833C>G | CA395867850 | NOD2 | c.841C>G (p.Leu281Val) c.922C>G (p.Leu308Val) n.982C>G c.418C>G (p.Leu140Val) c.256C>G (p.Leu86Val) n.931C>G c.349C>G (p.Leu117Val) n.884C>G n.906C>G | |
| 16 | g.50710833C>T | CA395867851 | NOD2 | c.841C>T (p.Leu281Phe) c.922C>T (p.Leu308Phe) n.982C>T c.418C>T (p.Leu140Phe) c.256C>T (p.Leu86Phe) n.931C>T c.349C>T (p.Leu117Phe) n.884C>T n.906C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.50710834T>A | CA395867852 | NOD2 | c.842T>A (p.Leu281His) c.923T>A (p.Leu308His) n.983T>A c.419T>A (p.Leu140His) c.257T>A (p.Leu86His) n.932T>A c.350T>A (p.Leu117His) n.885T>A n.907T>A | |
| 16 | g.50710834T>C | CA395867853 | NOD2 | c.842T>C (p.Leu281Pro) c.923T>C (p.Leu308Pro) n.983T>C c.419T>C (p.Leu140Pro) c.257T>C (p.Leu86Pro) n.932T>C c.350T>C (p.Leu117Pro) n.885T>C n.907T>C | |
| 16 | g.50710834T>G | CA395867854 | NOD2 | c.842T>G (p.Leu281Arg) c.923T>G (p.Leu308Arg) n.983T>G c.419T>G (p.Leu140Arg) c.257T>G (p.Leu86Arg) n.932T>G c.350T>G (p.Leu117Arg) n.885T>G n.907T>G | |
| 16 | g.50710835C>A | CA495778224 | NOD2 | c.843C>A (p.Leu281=) c.924C>A (p.Leu308=) n.984C>A c.420C>A (p.Leu140=) c.258C>A (p.Leu86=) n.933C>A c.351C>A (p.Leu117=) n.886C>A n.908C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.50710835C= | CA2221859679 | NOD2 | c.843C= (p.Leu281=) c.924C= (p.Leu308=) n.984C= c.420C= (p.Leu140=) c.258C= (p.Leu86=) n.933C= c.351C= (p.Leu117=) n.886C= n.908C= | |
| 16 | g.50710835C>G | CA495778227 | NOD2 | c.843C>G (p.Leu281=) c.924C>G (p.Leu308=) n.984C>G c.420C>G (p.Leu140=) c.258C>G (p.Leu86=) n.933C>G c.351C>G (p.Leu117=) n.886C>G n.908C>G | |
| 16 | g.50710835C>T | CA495778228 | NOD2 | c.843C>T (p.Leu281=) c.924C>T (p.Leu308=) n.984C>T c.420C>T (p.Leu140=) c.258C>T (p.Leu86=) n.933C>T c.351C>T (p.Leu117=) n.886C>T n.908C>T | gnomAD v4 |
| 16 | g.50710836C>A | CA395867855 | NOD2 | c.844C>A (p.Leu282Met) c.925C>A (p.Leu309Met) n.985C>A c.421C>A (p.Leu141Met) c.259C>A (p.Leu87Met) n.934C>A c.352C>A (p.Leu118Met) n.887C>A n.909C>A | |
| 16 | g.50710836C>G | CA395867856 | NOD2 | c.844C>G (p.Leu282Val) c.925C>G (p.Leu309Val) n.985C>G c.421C>G (p.Leu141Val) c.259C>G (p.Leu87Val) n.934C>G c.352C>G (p.Leu118Val) n.887C>G n.909C>G | |
| 16 | g.50710836C>T | CA495778232 | NOD2 | c.844C>T (p.Leu282=) c.925C>T (p.Leu309=) n.985C>T c.421C>T (p.Leu141=) c.259C>T (p.Leu87=) n.934C>T c.352C>T (p.Leu118=) n.887C>T n.909C>T | gnomAD v4 |
| 16 | g.50710837T>A | CA395867858 | NOD2 | c.845T>A (p.Leu282Gln) c.926T>A (p.Leu309Gln) n.986T>A c.422T>A (p.Leu141Gln) c.260T>A (p.Leu87Gln) n.935T>A c.353T>A (p.Leu118Gln) n.888T>A n.910T>A | |
| 16 | g.50710837T>C | CA8051425 | NOD2 | c.845T>C (p.Leu282Pro) c.926T>C (p.Leu309Pro) n.986T>C c.422T>C (p.Leu141Pro) c.260T>C (p.Leu87Pro) n.935T>C c.353T>C (p.Leu118Pro) n.888T>C n.910T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50710837T>G | CA395867857 | NOD2 | c.845T>G (p.Leu282Arg) c.926T>G (p.Leu309Arg) n.986T>G c.422T>G (p.Leu141Arg) c.260T>G (p.Leu87Arg) n.935T>G c.353T>G (p.Leu118Arg) n.888T>G n.910T>G | |
| 16 | g.50710837T= | CA2221859685 | NOD2 | c.845T= (p.Leu282=) c.926T= (p.Leu309=) n.986T= c.422T= (p.Leu141=) c.260T= (p.Leu87=) n.935T= c.353T= (p.Leu118=) n.888T= n.910T= | |
| 16 | g.50710838G>A | CA8051426 | NOD2 | c.846G>A (p.Leu282=) c.927G>A (p.Leu309=) n.987G>A c.423G>A (p.Leu141=) c.261G>A (p.Leu87=) n.936G>A c.354G>A (p.Leu118=) n.889G>A n.911G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50710838G>C | CA495778236 | NOD2 | c.846G>C (p.Leu282=) c.927G>C (p.Leu309=) n.987G>C c.423G>C (p.Leu141=) c.261G>C (p.Leu87=) n.936G>C c.354G>C (p.Leu118=) n.889G>C n.911G>C |