| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.49913603C>A | CA16043186 | ALG12 | c.162+1G>T (n.162+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.49913603C= | CA2410564837 | ALG12 | c.162+1G= (n.162+1G=) | |
| 22 | g.49913603C>G | CA412080547 | ALG12 | c.162+1G>C (n.162+1G>C) | |
| 22 | g.49913603C>T | CA412080541 | ALG12 | c.162+1G>A (n.162+1G>A) | |
| 22 | g.49913604C>A | CA412080552 | ALG12 | c.162G>T (p.Gln54His) | |
| 22 | g.49913604C>G | CA412080556 | ALG12 | c.162G>C (p.Gln54His) | |
| 22 | g.49913604C>T | CA515106813 | ALG12 | c.162G>A (p.Gln54=) | |
| 22 | g.49913605T>A | CA412080561 | ALG12 | c.161A>T (p.Gln54Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.49913605T>C | CA412080562 | ALG12 | c.161A>G (p.Gln54Arg) | |
| 22 | g.49913605T>G | CA412080563 | ALG12 | c.161A>C (p.Gln54Pro) | gnomAD v4 |
| 22 | g.49913605T= | CA2410564838 | ALG12 | c.161A= (p.Gln54=) | |
| 22 | g.49913606G>A | CA412080572 | ALG12 | c.160C>T (p.Gln54Ter) | ClinVar |
| 22 | g.49913606G>C | CA412080564 | ALG12 | c.160C>G (p.Gln54Glu) | |
| 22 | g.49913606G= | CA2410564839 | ALG12 | c.160C= (p.Gln54=) | |
| 22 | g.49913606G>T | CA412080566 | ALG12 | c.160C>A (p.Gln54Lys) | |
| 22 | g.49913607C>A | CA412080577 | ALG12 | c.159G>T (p.Glu53Asp) | COSMIC |
| 22 | g.49913607C>G | CA412080578 | ALG12 | c.159G>C (p.Glu53Asp) | |
| 22 | g.49913607C>T | CA515106823 | ALG12 | c.159G>A (p.Glu53=) | |
| 22 | g.49913607_49913608insAAGAC | CA640352386 | ALG12 | c.159_160insTCTTG (p.Gln54SerfsTer22) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.49913608T>A | CA412080579 | ALG12 | c.158A>T (p.Glu53Val) | |
| 22 | g.49913608T>C | CA412080580 | ALG12 | c.158A>G (p.Glu53Gly) | |
| 22 | g.49913608T>G | CA412080584 | ALG12 | c.158A>C (p.Glu53Ala) | |
| 22 | g.49913609C>A | CA412080587 | ALG12 | c.157G>T (p.Glu53Ter) | |
| 22 | g.49913609C= | CA2410564840 | ALG12 | c.157G= (p.Glu53=) | |
| 22 | g.49913609C>G | CA325433523 | ALG12 | c.157G>C (p.Glu53Gln) | dbSNP gnomAD v4 |
| 22 | g.49913609C>T | CA412080588 | ALG12 | c.157G>A (p.Glu53Lys) | gnomAD v4 |
| 22 | g.49913610C>A | CA515106830 | ALG12 | c.156G>T (p.Leu52=) | |
| 22 | g.49913610C>G | CA515106829 | ALG12 | c.156G>C (p.Leu52=) | |
| 22 | g.49913610C>T | CA515106828 | ALG12 | c.156G>A (p.Leu52=) | gnomAD v4 |
| 22 | g.49913611A>C | CA412080598 | ALG12 | c.155T>G (p.Leu52Arg) | |
| 22 | g.49913611A>G | CA412080605 | ALG12 | c.155T>C (p.Leu52Pro) | |
| 22 | g.49913611A>T | CA412080600 | ALG12 | c.155T>A (p.Leu52Gln) | |
| 22 | g.49913612G>A | CA515106835 | ALG12 | c.154C>T (p.Leu52=) | |
| 22 | g.49913612G>C | CA412080612 | ALG12 | c.154C>G (p.Leu52Val) | gnomAD v4 |
| 22 | g.49913612G>T | CA412080616 | ALG12 | c.154C>A (p.Leu52Met) | |
| 22 | g.49913613G>A | CA515106836 | ALG12 | c.153C>T (p.Asp51=) | |
| 22 | g.49913613G>C | CA412080622 | ALG12 | c.153C>G (p.Asp51Glu) | |
| 22 | g.49913613G>T | CA412080632 | ALG12 | c.153C>A (p.Asp51Glu) | |
| 22 | g.49913613_49913614insGCCC | CA2657454418 | ALG12 | c.152_153insGGGC (p.Asp51GlufsTer10) | gnomAD v4 |
| 22 | g.49913614T>A | CA412080638 | ALG12 | c.152A>T (p.Asp51Val) | |
| 22 | g.49913614T>C | CA412080653 | ALG12 | c.152A>G (p.Asp51Gly) | |
| 22 | g.49913614T>G | CA412080655 | ALG12 | c.152A>C (p.Asp51Ala) | |
| 22 | g.49913615C>A | CA412080657 | ALG12 | c.151G>T (p.Asp51Tyr) | |
| 22 | g.49913615C= | CA2410564841 | ALG12 | c.151G= (p.Asp51=) | |
| 22 | g.49913615C>G | CA412080659 | ALG12 | c.151G>C (p.Asp51His) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.49913615C>T | CA412080663 | ALG12 | c.151G>A (p.Asp51Asn) | |
| 22 | g.49913616T>A | CA412080666 | ALG12 | c.150A>T (p.Gln50His) | |
| 22 | g.49913616T>C | CA515106841 | ALG12 | c.150A>G (p.Gln50=) | dbSNP gnomAD v4 |
| 22 | g.49913616T>G | CA412080667 | ALG12 | c.150A>C (p.Gln50His) | |
| 22 | g.49913616T= | CA2410564842 | ALG12 | c.150A= (p.Gln50=) |