| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3083168C>A | CA10654930 | AVP | c.131G>T (p.Cys44Phe) | ClinVar dbSNP gnomAD v4 |
| 20 | g.3083168C= | CA2346405610 | AVP | c.131G= (p.Cys44=) | |
| 20 | g.3083168C>G | CA408061871 | AVP | c.131G>C (p.Cys44Ser) | |
| 20 | g.3083168C>T | CA408061872 | AVP | c.131G>A (p.Cys44Tyr) | gnomAD v4 |
| 20 | g.3083169A= | CA2346405612 | AVP | c.130T= (p.Cys44=) | |
| 20 | g.3083169A>C | CA408061873 | AVP | c.130T>G (p.Cys44Gly) | dbSNP |
| 20 | g.3083169A>G | CA408061874 | AVP | c.130T>C (p.Cys44Arg) | gnomAD v4 |
| 20 | g.3083169A>T | CA408061875 | AVP | c.130T>A (p.Cys44Ser) | gnomAD v4 |
| 20 | g.3083169_3083170delinsAG | CA2346405611 | AVP | c.129_130delinsCT (p.Pro43=) | |
| 20 | g.3083170G>A | CA509554763 | AVP | c.129C>T (p.Pro43=) | gnomAD v4 |
| 20 | g.3083170G>C | CA509554764 | AVP | c.129C>G (p.Pro43=) | |
| 20 | g.3083170G>T | CA509554765 | AVP | c.129C>A (p.Pro43=) | gnomAD v4 |
| 20 | g.3083173dup | CA2651674854 | AVP | c.129dup (p.Cys44LeufsTer28) | gnomAD v4 |
| 20 | g.3083173del | CA1014830920 | AVP | c.129del (p.Cys44AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.3083171G>A | CA408061876 | AVP | c.128C>T (p.Pro43Leu) | dbSNP gnomAD v4 |
| 20 | g.3083171G>C | CA408061877 | AVP | c.128C>G (p.Pro43Arg) | |
| 20 | g.3083171G= | CA2346405613 | AVP | c.128C= (p.Pro43=) | |
| 20 | g.3083171G>T | CA408061878 | AVP | c.128C>A (p.Pro43His) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3083172G>A | CA408061879 | AVP | c.127C>T (p.Pro43Ser) | gnomAD v4 |
| 20 | g.3083172G>C | CA9739469 | AVP | c.127C>G (p.Pro43Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3083172G= | CA2346405614 | AVP | c.127C= (p.Pro43=) | |
| 20 | g.3083172G>T | CA9739470 | AVP | c.127C>A (p.Pro43Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3083173G>A | CA509554766 | AVP | c.126C>T (p.Leu42=) | gnomAD v4 |
| 20 | g.3083173G>C | CA509554767 | AVP | c.126C>G (p.Leu42=) | |
| 20 | g.3083173G>T | CA509554768 | AVP | c.126C>A (p.Leu42=) | gnomAD v4 |
| 20 | g.3083174A>C | CA408061880 | AVP | c.125T>G (p.Leu42Arg) | |
| 20 | g.3083174A>G | CA408061881 | AVP | c.125T>C (p.Leu42Pro) | gnomAD v4 |
| 20 | g.3083174A>T | CA408061882 | AVP | c.125T>A (p.Leu42His) | gnomAD v4 |
| 20 | g.3083175G>A | CA408061883 | AVP | c.124C>T (p.Leu42Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.3083175G>C | CA408061884 | AVP | c.124C>G (p.Leu42Val) | |
| 20 | g.3083175G= | CA2346405615 | AVP | c.124C= (p.Leu42=) | |
| 20 | g.3083175G>T | CA408061885 | AVP | c.124C>A (p.Leu42Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3083176G>A | CA509554769 | AVP | c.123C>T (p.Cys41=) | gnomAD v4 COSMIC |
| 20 | g.3083176G>C | CA408061887 | AVP | c.123C>G (p.Cys41Trp) | |
| 20 | g.3083176G>T | CA408061886 | AVP | c.123C>A (p.Cys41Ter) | gnomAD v4 |
| 20 | g.3083177C>A | CA408061888 | AVP | c.122G>T (p.Cys41Phe) | gnomAD v4 |
| 20 | g.3083177C>G | CA408061889 | AVP | c.122G>C (p.Cys41Ser) | |
| 20 | g.3083177C>T | CA408061890 | AVP | c.122G>A (p.Cys41Tyr) | gnomAD v4 |
| 20 | g.3083178A>C | CA408061891 | AVP | c.121T>G (p.Cys41Gly) | |
| 20 | g.3083178A>G | CA408061892 | AVP | c.121T>C (p.Cys41Arg) | gnomAD v4 |
| 20 | g.3083178A>T | CA408061893 | AVP | c.121T>A (p.Cys41Ser) | |
| 20 | g.3083179C>A | CA408061894 | AVP | c.121-1G>T (n.121-1G>T) | gnomAD v4 |
| 20 | g.3083179C>G | CA408061896 | AVP | c.121-1G>C (n.121-1G>C) | |
| 20 | g.3083179C>T | CA408061895 | AVP | c.121-1G>A (n.121-1G>A) | gnomAD v4 |
| 20 | g.3083180T>A | CA408061897 | AVP | c.121-2A>T (n.121-2A>T) | |
| 20 | g.3083180T>C | CA310943379 | AVP | c.121-2A>G (n.121-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3083180T>G | CA408061898 | AVP | c.121-2A>C (n.121-2A>C) | |
| 20 | g.3083180T= | CA2346405616 | AVP | c.121-2A= (n.121-2A=) | |
| 20 | g.3083181G>A | CA2651674855 | AVP | c.121-3C>T (n.121-3C>T) | gnomAD v4 |
| 20 | g.3083182C>A | CA2651674856 | AVP | c.121-4G>T (n.121-4G>T) | gnomAD v4 |