Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94762674_94762769del | CA595318368 | CYP2C19 | c.-32_64del c.932-12384_932-12289del (n.932-12384_932-12289del) | gnomAD v2 gnomAD v4 |
10 | g.94762706A= | CA1929213619 | CYP2C19 | c.1A= (p.Met1=) c.932-12352A= (n.932-12352A=) | |
10 | g.94762706A>C | CA377667727 | CYP2C19 | c.1A>C (p.Met1Leu) c.932-12352A>C (n.932-12352A>C) | |
10 | g.94762706A>G | CA250055 | CYP2C19 | c.1A>G (p.Met1Val) c.932-12352A>G (n.932-12352A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94762706A>T | CA5616274 | CYP2C19 | c.1A>T (p.Met1Leu) c.932-12352A>T (n.932-12352A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94762707T>A | CA377667730 | CYP2C19 | c.2T>A (p.Met1Lys) c.932-12351T>A (n.932-12351T>A) | |
10 | g.94762707T>C | CA377667734 | CYP2C19 | c.2T>C (p.Met1Thr) c.932-12351T>C (n.932-12351T>C) | |
10 | g.94762707T>G | CA377667732 | CYP2C19 | c.2T>G (p.Met1Arg) c.932-12351T>G (n.932-12351T>G) | |
10 | g.94762708G>A | CA377667736 | CYP2C19 | c.3G>A (p.Met1Ile) c.932-12350G>A (n.932-12350G>A) | |
10 | g.94762708G>C | CA377667739 | CYP2C19 | c.3G>C (p.Met1Ile) c.932-12350G>C (n.932-12350G>C) | |
10 | g.94762708G>T | CA377667737 | CYP2C19 | c.3G>T (p.Met1Ile) c.932-12350G>T (n.932-12350G>T) | gnomAD v4 |
10 | g.94762709G>A | CA377667741 | CYP2C19 | c.4G>A (p.Asp2Asn) c.932-12349G>A (n.932-12349G>A) | |
10 | g.94762709G>C | CA211666230 | CYP2C19 | c.4G>C (p.Asp2His) c.932-12349G>C (n.932-12349G>C) | dbSNP gnomAD v4 |
10 | g.94762709G= | CA1929213627 | CYP2C19 | c.4G= (p.Asp2=) c.932-12349G= (n.932-12349G=) | |
10 | g.94762709G>T | CA377667743 | CYP2C19 | c.4G>T (p.Asp2Tyr) c.932-12349G>T (n.932-12349G>T) | gnomAD v4 |
10 | g.94762710A>C | CA377667745 | CYP2C19 | c.5A>C (p.Asp2Ala) c.932-12348A>C (n.932-12348A>C) | |
10 | g.94762710A>G | CA377667747 | CYP2C19 | c.5A>G (p.Asp2Gly) c.932-12348A>G (n.932-12348A>G) | |
10 | g.94762710A>T | CA377667749 | CYP2C19 | c.5A>T (p.Asp2Val) c.932-12348A>T (n.932-12348A>T) | gnomAD v4 |
10 | g.94762710_94762711dup | CA2741120235 | CYP2C19 | c.5_6dup (p.Pro3IlefsTer?) c.932-12348_932-12347dup (n.932-12348_932-12347dup) | |
10 | g.94762711T>A | CA377667750 | CYP2C19 | c.6T>A (p.Asp2Glu) c.932-12347T>A (n.932-12347T>A) | gnomAD v4 |
10 | g.94762711T>C | CA470823828 | CYP2C19 | c.6T>C (p.Asp2=) c.932-12347T>C (n.932-12347T>C) | |
10 | g.94762711T>G | CA377667751 | CYP2C19 | c.6T>G (p.Asp2Glu) c.932-12347T>G (n.932-12347T>G) | |
10 | g.94762712C>A | CA377667753 | CYP2C19 | c.7C>A (p.Pro3Thr) c.932-12346C>A (n.932-12346C>A) | |
10 | g.94762712C= | CA1929213630 | CYP2C19 | c.7C= (p.Pro3=) c.932-12346C= (n.932-12346C=) | |
10 | g.94762712C>G | CA377667756 | CYP2C19 | c.7C>G (p.Pro3Ala) c.932-12346C>G (n.932-12346C>G) | |
10 | g.94762712C>T | CA5616275 | CYP2C19 | c.7C>T (p.Pro3Ser) c.932-12346C>T (n.932-12346C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.94762712_94762715delinsTCTC | CA2695212478 | CYP2C19 | c.7_10delinsTCTC (p.Pro3_Phe4delinsSerLeu) c.932-12346_932-12343delinsTCTC (n.932-12346_932-12343delinsTCTC) | |
10 | g.94762713C>A | CA377667760 | CYP2C19 | c.8C>A (p.Pro3His) c.932-12345C>A (n.932-12345C>A) | dbSNP gnomAD v4 |
10 | g.94762713C= | CA1929213635 | CYP2C19 | c.8C= (p.Pro3=) c.932-12345C= (n.932-12345C=) | |
10 | g.94762713C>G | CA377667759 | CYP2C19 | c.8C>G (p.Pro3Arg) c.932-12345C>G (n.932-12345C>G) | |
10 | g.94762713C>T | CA5616276 | CYP2C19 | c.8C>T (p.Pro3Leu) c.932-12345C>T (n.932-12345C>T) | dbSNP ExAC gnomAD v2 COSMIC |
10 | g.94762714T>A | CA470823842 | CYP2C19 | c.9T>A (p.Pro3=) c.932-12344T>A (n.932-12344T>A) | |
10 | g.94762714T>C | CA470823844 | CYP2C19 | c.9T>C (p.Pro3=) c.932-12344T>C (n.932-12344T>C) | |
10 | g.94762714T>G | CA470823847 | CYP2C19 | c.9T>G (p.Pro3=) c.932-12344T>G (n.932-12344T>G) | |
10 | g.94762714_94762724delinsTTTTGTGGTCC | CA1929213638 | CYP2C19 | c.9_19delinsTTTTGTGGTCC (p.Pro3=) c.932-12344_932-12334delinsTTTTGTGGTCC (n.932-12344_932-12334delinsTTTTGTGGTCC) | |
10 | g.94762715T>A | CA377667762 | CYP2C19 | c.10T>A (p.Phe4Ile) c.932-12343T>A (n.932-12343T>A) | |
10 | g.94762715T>C | CA5616277 | CYP2C19 | c.10T>C (p.Phe4Leu) c.932-12343T>C (n.932-12343T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94762715T>G | CA377667764 | CYP2C19 | c.10T>G (p.Phe4Val) c.932-12343T>G (n.932-12343T>G) | |
10 | g.94762715T= | CA1929213644 | CYP2C19 | c.10T= (p.Phe4=) c.932-12343T= (n.932-12343T=) | |
10 | g.94762717_94762726del | CA1929213643 | CYP2C19 | c.12_21del (p.Phe4LeufsTer?) c.932-12341_932-12332del (n.932-12341_932-12332del) | dbSNP |
10 | g.94762716T>A | CA377667766 | CYP2C19 | c.11T>A (p.Phe4Tyr) c.932-12342T>A (n.932-12342T>A) | |
10 | g.94762716T>C | CA377667768 | CYP2C19 | c.11T>C (p.Phe4Ser) c.932-12342T>C (n.932-12342T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94762716T>G | CA377667770 | CYP2C19 | c.11T>G (p.Phe4Cys) c.932-12342T>G (n.932-12342T>G) | |
10 | g.94762716T= | CA1929213646 | CYP2C19 | c.11T= (p.Phe4=) c.932-12342T= (n.932-12342T=) | |
10 | g.94762717T>A | CA377667771 | CYP2C19 | c.12T>A (p.Phe4Leu) c.932-12341T>A (n.932-12341T>A) | |
10 | g.94762717T>C | CA211666242 | CYP2C19 | c.12T>C (p.Phe4=) c.932-12341T>C (n.932-12341T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94762717T>G | CA377667773 | CYP2C19 | c.12T>G (p.Phe4Leu) c.932-12341T>G (n.932-12341T>G) | |
10 | g.94762717T= | CA1929213648 | CYP2C19 | c.12T= (p.Phe4=) c.932-12341T= (n.932-12341T=) | |
10 | g.94762718G>A | CA377667774 | CYP2C19 | c.13G>A (p.Val5Met) c.932-12340G>A (n.932-12340G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.94762718G>C | CA377667776 | CYP2C19 | c.13G>C (p.Val5Leu) c.932-12340G>C (n.932-12340G>C) |