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 |
|---|---|---|---|---|---|
| 1 | g.209625704del | CA2573051471 | LAMB3 | c.1923del (p.Ala642GlnfsTer?) c.1731del (p.Ala578GlnfsTer?) | dbSNP |
| 1 | g.209625704G>A | CA423142578 | LAMB3 | c.1920C>T (p.Ser640=) c.1728C>T (p.Ser576=) | |
| 1 | g.209625704G>C | CA344589130 | LAMB3 | c.1920C>G (p.Ser640Arg) c.1728C>G (p.Ser576Arg) | |
| 1 | g.209625704G= | CA2484299207 | LAMB3 | c.1920C= (p.Ser640=) c.1728C= (p.Ser576=) | |
| 1 | g.209625704G>T | CA344589131 | LAMB3 | c.1920C>A (p.Ser640Arg) c.1728C>A (p.Ser576Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209625705C>A | CA344589132 | LAMB3 | c.1919G>T (p.Ser640Ile) c.1727G>T (p.Ser576Ile) | |
| 1 | g.209625705C= | CA2484299208 | LAMB3 | c.1919G= (p.Ser640=) c.1727G= (p.Ser576=) | |
| 1 | g.209625705C>G | CA344589133 | LAMB3 | c.1919G>C (p.Ser640Thr) c.1727G>C (p.Ser576Thr) | COSMIC |
| 1 | g.209625705C>T | CA344589134 | LAMB3 | c.1919G>A (p.Ser640Asn) c.1727G>A (p.Ser576Asn) | dbSNP |
| 1 | g.209625706T>A | CA344589135 | LAMB3 | c.1918A>T (p.Ser640Cys) c.1726A>T (p.Ser576Cys) | |
| 1 | g.209625706T>C | CA344589136 | LAMB3 | c.1918A>G (p.Ser640Gly) c.1726A>G (p.Ser576Gly) | dbSNP |
| 1 | g.209625706T>G | CA344589137 | LAMB3 | c.1918A>C (p.Ser640Arg) c.1726A>C (p.Ser576Arg) | |
| 1 | g.209625706T= | CA2484299209 | LAMB3 | c.1918A= (p.Ser640=) c.1726A= (p.Ser576=) | |
| 1 | g.209625707G>A | CA1375430 | LAMB3 | c.1917C>T (p.Ser639=) c.1725C>T (p.Ser575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625707G>C | CA344589139 | LAMB3 | c.1917C>G (p.Ser639Arg) c.1725C>G (p.Ser575Arg) | |
| 1 | g.209625707G= | CA2484299210 | LAMB3 | c.1917C= (p.Ser639=) c.1725C= (p.Ser575=) | |
| 1 | g.209625707G>T | CA344589138 | LAMB3 | c.1917C>A (p.Ser639Arg) c.1725C>A (p.Ser575Arg) | |
| 1 | g.209625708C>A | CA344589140 | LAMB3 | c.1916G>T (p.Ser639Ile) c.1724G>T (p.Ser575Ile) | |
| 1 | g.209625708C>G | CA344589141 | LAMB3 | c.1916G>C (p.Ser639Thr) c.1724G>C (p.Ser575Thr) | |
| 1 | g.209625708C>T | CA344589142 | LAMB3 | c.1916G>A (p.Ser639Asn) c.1724G>A (p.Ser575Asn) | |
| 1 | g.209625709T>A | CA344589143 | LAMB3 | c.1915A>T (p.Ser639Cys) c.1723A>T (p.Ser575Cys) | |
| 1 | g.209625709T>C | CA344589144 | LAMB3 | c.1915A>G (p.Ser639Gly) c.1723A>G (p.Ser575Gly) | gnomAD v4 |
| 1 | g.209625709T>G | CA344589145 | LAMB3 | c.1915A>C (p.Ser639Arg) c.1723A>C (p.Ser575Arg) | |
| 1 | g.209625710G>A | CA423142579 | LAMB3 | c.1914C>T (p.Leu638=) c.1722C>T (p.Leu574=) | |
| 1 | g.209625710G>C | CA423142580 | LAMB3 | c.1914C>G (p.Leu638=) c.1722C>G (p.Leu574=) | |
| 1 | g.209625710G>T | CA423142581 | LAMB3 | c.1914C>A (p.Leu638=) c.1722C>A (p.Leu574=) | |
| 1 | g.209625711A>C | CA344589146 | LAMB3 | c.1913T>G (p.Leu638Arg) c.1721T>G (p.Leu574Arg) | |
| 1 | g.209625711A>G | CA344589147 | LAMB3 | c.1913T>C (p.Leu638Pro) c.1721T>C (p.Leu574Pro) | |
| 1 | g.209625711A>T | CA344589148 | LAMB3 | c.1913T>A (p.Leu638His) c.1721T>A (p.Leu574His) | |
| 1 | g.209625712G>A | CA344589149 | LAMB3 | c.1912C>T (p.Leu638Phe) c.1720C>T (p.Leu574Phe) | |
| 1 | g.209625712G>C | CA344589150 | LAMB3 | c.1912C>G (p.Leu638Val) c.1720C>G (p.Leu574Val) | |
| 1 | g.209625712G>T | CA344589151 | LAMB3 | c.1912C>A (p.Leu638Ile) c.1720C>A (p.Leu574Ile) | |
| 1 | g.209625713A>C | CA423142582 | LAMB3 | c.1911T>G (p.Val637=) c.1719T>G (p.Val573=) | |
| 1 | g.209625713A>G | CA423142583 | LAMB3 | c.1911T>C (p.Val637=) c.1719T>C (p.Val573=) | |
| 1 | g.209625713A>T | CA423142584 | LAMB3 | c.1911T>A (p.Val637=) c.1719T>A (p.Val573=) | |
| 1 | g.209625714A= | CA2484299211 | LAMB3 | c.1910T= (p.Val637=) c.1718T= (p.Val573=) | |
| 1 | g.209625714A>C | CA344589153 | LAMB3 | c.1910T>G (p.Val637Gly) c.1718T>G (p.Val573Gly) | |
| 1 | g.209625714A>G | CA1375431 | LAMB3 | c.1910T>C (p.Val637Ala) c.1718T>C (p.Val573Ala) | dbSNP ExAC |
| 1 | g.209625714A>T | CA344589152 | LAMB3 | c.1910T>A (p.Val637Asp) c.1718T>A (p.Val573Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625715C>A | CA344589154 | LAMB3 | c.1909G>T (p.Val637Phe) c.1717G>T (p.Val573Phe) | |
| 1 | g.209625715C>G | CA344589155 | LAMB3 | c.1909G>C (p.Val637Leu) c.1717G>C (p.Val573Leu) | |
| 1 | g.209625715C>T | CA344589156 | LAMB3 | c.1909G>A (p.Val637Ile) c.1717G>A (p.Val573Ile) | |
| 1 | g.209625721_209625730del | CA2573130650 | LAMB3 | c.1900_1909del (p.Ile634PhefsTer?) c.1708_1717del (p.Ile570PhefsTer?) | ClinVar dbSNP |
| 1 | g.209625716T>A | CA423142585 | LAMB3 | c.1908A>T (p.Ala636=) c.1716A>T (p.Ala572=) | |
| 1 | g.209625716T>C | CA423142586 | LAMB3 | c.1908A>G (p.Ala636=) c.1716A>G (p.Ala572=) | |
| 1 | g.209625716T>G | CA423142587 | LAMB3 | c.1908A>C (p.Ala636=) c.1716A>C (p.Ala572=) | |
| 1 | g.209625717G>A | CA344589157 | LAMB3 | c.1907C>T (p.Ala636Val) c.1715C>T (p.Ala572Val) | |
| 1 | g.209625717G>C | CA344589158 | LAMB3 | c.1907C>G (p.Ala636Gly) c.1715C>G (p.Ala572Gly) | |
| 1 | g.209625717G>T | CA344589159 | LAMB3 | c.1907C>A (p.Ala636Glu) c.1715C>A (p.Ala572Glu) | |
| 1 | g.209625718C>A | CA344589160 | LAMB3 | c.1906G>T (p.Ala636Ser) c.1714G>T (p.Ala572Ser) |