Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
22 | g.49913619C>T | CA412080710 | ALG12 | c.147G>A (p.Trp49Ter) | gnomAD v4 |
22 | g.49913620C>A | CA412080724 | ALG12 | c.146G>T (p.Trp49Leu) | |
22 | g.49913620C= | CA2410564845 | ALG12 | c.146G= (p.Trp49=) | |
22 | g.49913620C>G | CA412080725 | ALG12 | c.146G>C (p.Trp49Ser) | dbSNP |
22 | g.49913620C>T | CA412080726 | ALG12 | c.146G>A (p.Trp49Ter) | |
22 | g.49913621A>C | CA412080734 | ALG12 | c.145T>G (p.Trp49Gly) | |
22 | g.49913621A>G | CA412080738 | ALG12 | c.145T>C (p.Trp49Arg) | |
22 | g.49913621A>T | CA412080731 | ALG12 | c.145T>A (p.Trp49Arg) | |
22 | g.49913622G>A | CA515106853 | ALG12 | c.144C>T (p.His48=) | |
22 | g.49913622G>C | CA412080742 | ALG12 | c.144C>G (p.His48Gln) | |
22 | g.49913622G>T | CA412080744 | ALG12 | c.144C>A (p.His48Gln) | |
22 | g.49913623T>A | CA412080749 | ALG12 | c.143A>T (p.His48Leu) | |
22 | g.49913623T>C | CA412080751 | ALG12 | c.143A>G (p.His48Arg) | |
22 | g.49913623T>G | CA412080756 | ALG12 | c.143A>C (p.His48Pro) | |
22 | g.49913624G>A | CA412080764 | ALG12 | c.142C>T (p.His48Tyr) | dbSNP |
22 | g.49913624G>C | CA412080762 | ALG12 | c.142C>G (p.His48Asp) | |
22 | g.49913624G= | CA2410564846 | ALG12 | c.142C= (p.His48=) | |
22 | g.49913624G>T | CA412080758 | ALG12 | c.142C>A (p.His48Asn) | gnomAD v4 |
22 | g.49913625G>A | CA10300728 | ALG12 | c.141C>T (p.Tyr47=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913625G>C | CA412080768 | ALG12 | c.141C>G (p.Tyr47Ter) | |
22 | g.49913625G= | CA2410564847 | ALG12 | c.141C= (p.Tyr47=) | |
22 | g.49913625G>T | CA412080772 | ALG12 | c.141C>A (p.Tyr47Ter) | |
22 | g.49913626T>A | CA412080776 | ALG12 | c.140A>T (p.Tyr47Phe) | |
22 | g.49913626T>C | CA10300729 | ALG12 | c.140A>G (p.Tyr47Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913626T>G | CA412080791 | ALG12 | c.140A>C (p.Tyr47Ser) | |
22 | g.49913626T= | CA2410564848 | ALG12 | c.140A= (p.Tyr47=) | |
22 | g.49913627A= | CA2410564849 | ALG12 | c.139T= (p.Tyr47=) | |
22 | g.49913627A>C | CA412080808 | ALG12 | c.139T>G (p.Tyr47Asp) | |
22 | g.49913627A>G | CA412080819 | ALG12 | c.139T>C (p.Tyr47His) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913627A>T | CA412080816 | ALG12 | c.139T>A (p.Tyr47Asn) | |
22 | g.49913628G>A | CA515106860 | ALG12 | c.138C>T (p.Leu46=) | dbSNP gnomAD v4 |