| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.49913475_49913482dup | CA754007655 | ALG12 | c.198_205dup (p.Leu69ArgfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.49913480G>A | CA252770 | ALG12 | c.200C>T (p.Thr67Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.49913480G>C | CA412080027 | ALG12 | c.200C>G (p.Thr67Arg) | |
| 22 | g.49913480G= | CA2410564763 | ALG12 | c.200C= (p.Thr67=) | |
| 22 | g.49913480G>T | CA412080028 | ALG12 | c.200C>A (p.Thr67Lys) | |
| 22 | g.49913481T>A | CA412080029 | ALG12 | c.199A>T (p.Thr67Ser) | |
| 22 | g.49913481T>C | CA412080030 | ALG12 | c.199A>G (p.Thr67Ala) | |
| 22 | g.49913481T>G | CA412080031 | ALG12 | c.199A>C (p.Thr67Pro) | |
| 22 | g.49913482C>A | CA412080034 | ALG12 | c.198G>T (p.Arg66Ser) | |
| 22 | g.49913482C= | CA2410564764 | ALG12 | c.198G= (p.Arg66=) | |
| 22 | g.49913482C>G | CA325433411 | ALG12 | c.198G>C (p.Arg66Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.49913482C>T | CA515106741 | ALG12 | c.198G>A (p.Arg66=) | |
| 22 | g.49913483C>A | CA412080039 | ALG12 | c.197G>T (p.Arg66Met) | |
| 22 | g.49913483C>G | CA412080047 | ALG12 | c.197G>C (p.Arg66Thr) | |
| 22 | g.49913483C>T | CA412080050 | ALG12 | c.197G>A (p.Arg66Lys) | |
| 22 | g.49913484T>A | CA412080067 | ALG12 | c.196A>T (p.Arg66Trp) | |
| 22 | g.49913484T>C | CA412080055 | ALG12 | c.196A>G (p.Arg66Gly) | |
| 22 | g.49913484T>G | CA515106744 | ALG12 | c.196A>C (p.Arg66=) | |
| 22 | g.49913485G>A | CA515106745 | ALG12 | c.195C>T (p.Pro65=) | |
| 22 | g.49913485G>C | CA515106746 | ALG12 | c.195C>G (p.Pro65=) | |
| 22 | g.49913485G>T | CA515106748 | ALG12 | c.195C>A (p.Pro65=) | |
| 22 | g.49913488del | CA2531048268 | ALG12 | c.195del (p.Arg66GlyfsTer8) | |
| 22 | g.49913486G>A | CA412080070 | ALG12 | c.194C>T (p.Pro65Leu) | |
| 22 | g.49913486G>C | CA412080071 | ALG12 | c.194C>G (p.Pro65Arg) | |
| 22 | g.49913486G>T | CA412080073 | ALG12 | c.194C>A (p.Pro65His) | |
| 22 | g.49913487G>A | CA10300700 | ALG12 | c.193C>T (p.Pro65Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.49913487G>C | CA412080081 | ALG12 | c.193C>G (p.Pro65Ala) | |
| 22 | g.49913487G= | CA2410564765 | ALG12 | c.193C= (p.Pro65=) | |
| 22 | g.49913487G>T | CA412080084 | ALG12 | c.193C>A (p.Pro65Thr) | |
| 22 | g.49913488G>A | CA515106752 | ALG12 | c.192C>T (p.Val64=) | gnomAD v4 |
| 22 | g.49913488G>C | CA515106754 | ALG12 | c.192C>G (p.Val64=) | |
| 22 | g.49913488G= | CA2410564766 | ALG12 | c.192C= (p.Val64=) | |
| 22 | g.49913488G>T | CA10300701 | ALG12 | c.192C>A (p.Val64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.49913489A>C | CA412080114 | ALG12 | c.191T>G (p.Val64Gly) | |
| 22 | g.49913489A>G | CA412080120 | ALG12 | c.191T>C (p.Val64Ala) | |
| 22 | g.49913489A>T | CA412080117 | ALG12 | c.191T>A (p.Val64Asp) | |
| 22 | g.49913489dup | CA640352371 | ALG12 | c.191dup (p.Arg66GlnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.49913490C>A | CA412080150 | ALG12 | c.190G>T (p.Val64Phe) | |
| 22 | g.49913490C= | CA2410564767 | ALG12 | c.190G= (p.Val64=) | |
| 22 | g.49913490C>G | CA412080154 | ALG12 | c.190G>C (p.Val64Leu) | |
| 22 | g.49913490C>T | CA10300702 | ALG12 | c.190G>A (p.Val64Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.49913491G>A | CA10300703 | ALG12 | c.189C>T (p.Val63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.49913491G>C | CA515106756 | ALG12 | c.189C>G (p.Val63=) | gnomAD v4 |
| 22 | g.49913491G= | CA2410564768 | ALG12 | c.189C= (p.Val63=) | |
| 22 | g.49913491G>T | CA515106757 | ALG12 | c.189C>A (p.Val63=) | ClinVar |
| 22 | g.49913492A>C | CA412080174 | ALG12 | c.188T>G (p.Val63Gly) | gnomAD v4 |
| 22 | g.49913492A>G | CA412080167 | ALG12 | c.188T>C (p.Val63Ala) | gnomAD v4 |
| 22 | g.49913492A>T | CA412080170 | ALG12 | c.188T>A (p.Val63Asp) | |
| 22 | g.49913493C>A | CA412080181 | ALG12 | c.187G>T (p.Val63Phe) | |
| 22 | g.49913493C>G | CA412080188 | ALG12 | c.187G>C (p.Val63Leu) |