| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115732927del | CA1682913324 | CASQ2 | c.306del (p.Lys102AsnfsTer16) c.582del (p.Lys194AsnfsTer16) n.3del | |
| 1 | g.115732926_115732929delinsTTGA | CA1190726920 | CASQ2 | c.302_305delinsTCAA (p.Ile101=) c.578_581delinsTCAA (p.Ile193=) | |
| 1 | g.115732927T>A | CA341768985 | CASQ2 | c.304A>T (p.Lys102Ter) c.580A>T (p.Lys194Ter) n.1A>T | |
| 1 | g.115732927T>C | CA341768987 | CASQ2 | c.304A>G (p.Lys102Glu) c.580A>G (p.Lys194Glu) n.1A>G | |
| 1 | g.115732927T>G | CA341768986 | CASQ2 | c.304A>C (p.Lys102Gln) c.580A>C (p.Lys194Gln) n.1A>C | dbSNP |
| 1 | g.115732927_115732929delinsGT | CA261480 | CASQ2 | c.302_304delinsAC (p.Ile101AsnfsTer17) c.578_580delinsAC (p.Ile193AsnfsTer17) | ClinVar dbSNP |
| 1 | g.115732927_115732929delinsTGA | CA1144228955 | CASQ2 | c.302_304delinsTCA (p.Ile101=) c.578_580delinsTCA (p.Ile193=) | |
| 1 | g.115732928G>A | CA419896046 | CASQ2 | c.303C>T (p.Ile101=) c.579C>T (p.Ile193=) | |
| 1 | g.115732928G>C | CA1023862 | CASQ2 | c.303C>G (p.Ile101Met) c.579C>G (p.Ile193Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115732928G= | CA1190726922 | CASQ2 | c.303C= (p.Ile101=) c.579C= (p.Ile193=) | |
| 1 | g.115732928G>T | CA419896045 | CASQ2 | c.303C>A (p.Ile101=) c.579C>A (p.Ile193=) | gnomAD v4 |
| 1 | g.115732929A= | CA1190726923 | CASQ2 | c.302T= (p.Ile101=) c.578T= (p.Ile193=) | |
| 1 | g.115732929A>C | CA341768988 | CASQ2 | c.302T>G (p.Ile101Ser) c.578T>G (p.Ile193Ser) | |
| 1 | g.115732929A>G | CA341768989 | CASQ2 | c.302T>C (p.Ile101Thr) c.578T>C (p.Ile193Thr) | |
| 1 | g.115732929A>T | CA1023863 | CASQ2 | c.302T>A (p.Ile101Asn) c.578T>A (p.Ile193Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115732930T>A | CA341768990 | CASQ2 | c.301A>T (p.Ile101Phe) c.577A>T (p.Ile193Phe) | |
| 1 | g.115732930T>C | CA341768992 | CASQ2 | c.301A>G (p.Ile101Val) c.577A>G (p.Ile193Val) | |
| 1 | g.115732930T>G | CA341768991 | CASQ2 | c.301A>C (p.Ile101Leu) c.577A>C (p.Ile193Leu) | |
| 1 | g.115732931G>A | CA1023864 | CASQ2 | c.300C>T (p.Tyr100=) c.576C>T (p.Tyr192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115732931G>C | CA341768993 | CASQ2 | c.300C>G (p.Tyr100Ter) c.576C>G (p.Tyr192Ter) | |
| 1 | g.115732931G= | CA1190726924 | CASQ2 | c.300C= (p.Tyr100=) c.576C= (p.Tyr192=) | |
| 1 | g.115732931G>T | CA341768994 | CASQ2 | c.300C>A (p.Tyr100Ter) c.576C>A (p.Tyr192Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115732932T>A | CA341768995 | CASQ2 | c.299A>T (p.Tyr100Phe) c.575A>T (p.Tyr192Phe) | |
| 1 | g.115732932T>C | CA341768996 | CASQ2 | c.299A>G (p.Tyr100Cys) c.575A>G (p.Tyr192Cys) | |
| 1 | g.115732932T>G | CA341768997 | CASQ2 | c.299A>C (p.Tyr100Ser) c.575A>C (p.Tyr192Ser) | |
| 1 | g.115732933A>C | CA341768998 | CASQ2 | c.298T>G (p.Tyr100Asp) c.574T>G (p.Tyr192Asp) | gnomAD v4 |
| 1 | g.115732933A>G | CA341768999 | CASQ2 | c.298T>C (p.Tyr100His) c.574T>C (p.Tyr192His) | |
| 1 | g.115732933A>T | CA341769000 | CASQ2 | c.298T>A (p.Tyr100Asn) c.574T>A (p.Tyr192Asn) | |
| 1 | g.115732934A>C | CA419896047 | CASQ2 | c.297T>G (p.Pro99=) c.573T>G (p.Pro191=) | |
| 1 | g.115732934A>G | CA419896048 | CASQ2 | c.297T>C (p.Pro99=) c.573T>C (p.Pro191=) | |
| 1 | g.115732934A>T | CA419896049 | CASQ2 | c.297T>A (p.Pro99=) c.573T>A (p.Pro191=) | |
| 1 | g.115732935G>A | CA341769001 | CASQ2 | c.296C>T (p.Pro99Leu) c.572C>T (p.Pro191Leu) | gnomAD v4 COSMIC |
| 1 | g.115732935G>C | CA341769002 | CASQ2 | c.296C>G (p.Pro99Arg) c.572C>G (p.Pro191Arg) | |
| 1 | g.115732935G>T | CA341769003 | CASQ2 | c.296C>A (p.Pro99His) c.572C>A (p.Pro191His) | COSMIC |
| 1 | g.115732936G>A | CA341769006 | CASQ2 | c.295C>T (p.Pro99Ser) c.571C>T (p.Pro191Ser) | |
| 1 | g.115732936G>C | CA341769004 | CASQ2 | c.295C>G (p.Pro99Ala) c.571C>G (p.Pro191Ala) | |
| 1 | g.115732936G>T | CA341769005 | CASQ2 | c.295C>A (p.Pro99Thr) c.571C>A (p.Pro191Thr) | |
| 1 | g.115732937C>A | CA341769007 | CASQ2 | c.294G>T (p.Gln98His) c.570G>T (p.Gln190His) | |
| 1 | g.115732937C>G | CA341769008 | CASQ2 | c.294G>C (p.Gln98His) c.570G>C (p.Gln190His) | |
| 1 | g.115732937C>T | CA419896050 | CASQ2 | c.294G>A (p.Gln98=) c.570G>A (p.Gln190=) | gnomAD v4 |
| 1 | g.115732938T>A | CA341769009 | CASQ2 | c.293A>T (p.Gln98Leu) c.569A>T (p.Gln190Leu) | |
| 1 | g.115732938T>C | CA341769010 | CASQ2 | c.293A>G (p.Gln98Arg) c.569A>G (p.Gln190Arg) | dbSNP |
| 1 | g.115732938T>G | CA341769011 | CASQ2 | c.293A>C (p.Gln98Pro) c.569A>C (p.Gln190Pro) | |
| 1 | g.115732938T= | CA1190726925 | CASQ2 | c.293A= (p.Gln98=) c.569A= (p.Gln190=) | |
| 1 | g.115732939G>A | CA341769012 | CASQ2 | c.292C>T (p.Gln98Ter) c.568C>T (p.Gln190Ter) | |
| 1 | g.115732939G>C | CA341769013 | CASQ2 | c.292C>G (p.Gln98Glu) c.568C>G (p.Gln190Glu) | |
| 1 | g.115732939G>T | CA341769014 | CASQ2 | c.292C>A (p.Gln98Lys) c.568C>A (p.Gln190Lys) | |
| 1 | g.115732940G>A | CA419896051 | CASQ2 | c.291C>T (p.Phe97=) c.567C>T (p.Phe189=) | gnomAD v4 COSMIC |
| 1 | g.115732940G>C | CA175364 | CASQ2 | c.291C>G (p.Phe97Leu) c.567C>G (p.Phe189Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115732940G= | CA1142129946 | CASQ2 | c.291C= (p.Phe97=) c.567C= (p.Phe189=) |