Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
22 | g.49913617del | CA2657454443 | ALG12 | c.150del (p.Asp51ThrfsTer23) | gnomAD v4 |
22 | g.49913617T>A | CA412080670 | ALG12 | c.149A>T (p.Gln50Leu) | |
22 | g.49913617T>C | CA412080674 | ALG12 | c.149A>G (p.Gln50Arg) | |
22 | g.49913617T>G | CA412080672 | ALG12 | c.149A>C (p.Gln50Pro) | |
22 | g.49913618G>A | CA412080677 | ALG12 | c.148C>T (p.Gln50Ter) | gnomAD v4 |
22 | g.49913618G>C | CA412080681 | ALG12 | c.148C>G (p.Gln50Glu) | gnomAD v4 |
22 | g.49913618G= | CA2410564843 | ALG12 | c.148C= (p.Gln50=) | |
22 | g.49913618G>T | CA10300727 | ALG12 | c.148C>A (p.Gln50Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913619C>A | CA412080689 | ALG12 | c.147G>T (p.Trp49Cys) | |
22 | g.49913619C= | CA2410564844 | ALG12 | c.147G= (p.Trp49=) | |
22 | g.49913619C>G | CA412080700 | ALG12 | c.147G>C (p.Trp49Cys) | dbSNP gnomAD v2 gnomAD v4 |