| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.23049242_23049278delinsATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT | CA2355681463 | THBD | c.227_263delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT (p.Asn76=) | |
| 20 | g.23049245_23049280del | CA635265826 | THBD | c.227_262del (p.Asn76_Trp87del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049259_23049349del | CA2652141672 | THBD | c.158_248del (p.Asp53AlafsTer?) | gnomAD v4 |
| 20 | g.23049278T>A | CA408408122 | THBD | c.227A>T (p.Asn76Ile) | |
| 20 | g.23049278T>C | CA408408123 | THBD | c.227A>G (p.Asn76Ser) | |
| 20 | g.23049278T>G | CA408408121 | THBD | c.227A>C (p.Asn76Thr) | dbSNP gnomAD v4 |
| 20 | g.23049278T= | CA2355681493 | THBD | c.227A= (p.Asn76=) | |
| 20 | g.23049279T>A | CA408408124 | THBD | c.226A>T (p.Asn76Tyr) | |
| 20 | g.23049279T>C | CA408408125 | THBD | c.226A>G (p.Asn76Asp) | |
| 20 | g.23049279T>G | CA408408126 | THBD | c.226A>C (p.Asn76His) | |
| 20 | g.23049280C>A | CA510161054 | THBD | c.225G>T (p.Leu75=) | |
| 20 | g.23049280C= | CA2355681494 | THBD | c.225G= (p.Leu75=) | |
| 20 | g.23049280C>G | CA510161056 | THBD | c.225G>C (p.Leu75=) | gnomAD v4 |
| 20 | g.23049280C>T | CA510161055 | THBD | c.225G>A (p.Leu75=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049281A= | CA2355681495 | THBD | c.224T= (p.Leu75=) | |
| 20 | g.23049281A>C | CA408408127 | THBD | c.224T>G (p.Leu75Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049281A>G | CA408408128 | THBD | c.224T>C (p.Leu75Pro) | |
| 20 | g.23049281A>T | CA408408129 | THBD | c.224T>A (p.Leu75Gln) | |
| 20 | g.23049282G>A | CA510161061 | THBD | c.223C>T (p.Leu75=) | COSMIC |
| 20 | g.23049282G>C | CA408408130 | THBD | c.223C>G (p.Leu75Val) | gnomAD v4 |
| 20 | g.23049282G>T | CA408408131 | THBD | c.223C>A (p.Leu75Met) | |
| 20 | g.23049283del | CA2577353604 | THBD | c.222del (p.Leu75Ter) | |
| 20 | g.23049283T>A | CA510161065 | THBD | c.222A>T (p.Leu74=) | |
| 20 | g.23049283T>C | CA510161067 | THBD | c.222A>G (p.Leu74=) | |
| 20 | g.23049283T>G | CA510161068 | THBD | c.222A>C (p.Leu74=) | |
| 20 | g.23049284A>C | CA408408132 | THBD | c.221T>G (p.Leu74Arg) | |
| 20 | g.23049284A>G | CA408408133 | THBD | c.221T>C (p.Leu74Pro) | gnomAD v4 |
| 20 | g.23049284A>T | CA408408134 | THBD | c.221T>A (p.Leu74Gln) | |
| 20 | g.23049285G>A | CA510161071 | THBD | c.220C>T (p.Leu74=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.23049285G>C | CA408408135 | THBD | c.220C>G (p.Leu74Val) | gnomAD v4 |
| 20 | g.23049285G= | CA2355681496 | THBD | c.220C= (p.Leu74=) | |
| 20 | g.23049285G>T | CA408408136 | THBD | c.220C>A (p.Leu74Ile) | gnomAD v4 |
| 20 | g.23049286C>A | CA408408137 | THBD | c.219G>T (p.Leu73Phe) | gnomAD v4 |
| 20 | g.23049286C>G | CA408408138 | THBD | c.219G>C (p.Leu73Phe) | |
| 20 | g.23049286C>T | CA510161077 | THBD | c.219G>A (p.Leu73=) | gnomAD v4 |
| 20 | g.23049287A= | CA2355681497 | THBD | c.218T= (p.Leu73=) | |
| 20 | g.23049287A>C | CA408408139 | THBD | c.218T>G (p.Leu73Trp) | |
| 20 | g.23049287A>G | CA313552355 | THBD | c.218T>C (p.Leu73Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049287A>T | CA408408140 | THBD | c.218T>A (p.Leu73Ter) | |
| 20 | g.23049288A>C | CA408408141 | THBD | c.217T>G (p.Leu73Val) | |
| 20 | g.23049288A>G | CA510161082 | THBD | c.217T>C (p.Leu73=) | gnomAD v4 |
| 20 | g.23049288A>T | CA408408142 | THBD | c.217T>A (p.Leu73Met) | |
| 20 | g.23049288_23049289delinsAG | CA2355681498 | THBD | c.216_217delinsCT (p.Ser72=) | |
| 20 | g.23049289G>A | CA510161088 | THBD | c.216C>T (p.Ser72=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049289G>C | CA510161087 | THBD | c.216C>G (p.Ser72=) | |
| 20 | g.23049289G= | CA2355681500 | THBD | c.216C= (p.Ser72=) | |
| 20 | g.23049289G>T | CA510161086 | THBD | c.216C>A (p.Ser72=) | gnomAD v4 |
| 20 | g.23049290del | CA2355681499 | THBD | c.216del (p.Leu73CysfsTer3) | dbSNP |
| 20 | g.23049290G>A | CA408408143 | THBD | c.215C>T (p.Ser72Phe) | dbSNP gnomAD v4 |
| 20 | g.23049290G>C | CA408408144 | THBD | c.215C>G (p.Ser72Cys) |