Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.2417328_2417359dup | CA915953073 | TGM6 | c.1433_1464dup (p.Pro489ValfsTer25) | ClinVar dbSNP |
20 | g.2417345G>A | CA408015103 | TGM6 | c.1450G>A (p.Asp484Asn) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417345G>C | CA408015104 | TGM6 | c.1450G>C (p.Asp484His) | |
20 | g.2417345G= | CA2346098401 | TGM6 | c.1450G= (p.Asp484=) | |
20 | g.2417345G>T | CA408015106 | TGM6 | c.1450G>T (p.Asp484Tyr) | |
20 | g.2417346A>C | CA408015108 | TGM6 | c.1451A>C (p.Asp484Ala) | |
20 | g.2417346A>G | CA408015109 | TGM6 | c.1451A>G (p.Asp484Gly) | |
20 | g.2417346A>T | CA408015111 | TGM6 | c.1451A>T (p.Asp484Val) | |
20 | g.2417347C>A | CA408015112 | TGM6 | c.1452C>A (p.Asp484Glu) | |
20 | g.2417347C= | CA2346098402 | TGM6 | c.1452C= (p.Asp484=) | |
20 | g.2417347C>G | CA408015114 | TGM6 | c.1452C>G (p.Asp484Glu) | ClinVar gnomAD v4 |
20 | g.2417347C>T | CA9732109 | TGM6 | c.1452C>T (p.Asp484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417348G>A | CA310850167 | TGM6 | c.1453G>A (p.Asp485Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.2417348G>C | CA408015116 | TGM6 | c.1453G>C (p.Asp485His) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417348G= | CA2346098403 | TGM6 | c.1453G= (p.Asp485=) | |
20 | g.2417348G>T | CA408015118 | TGM6 | c.1453G>T (p.Asp485Tyr) | dbSNP gnomAD v2 |
20 | g.2417349A>C | CA408015120 | TGM6 | c.1454A>C (p.Asp485Ala) | |
20 | g.2417349A>G | CA408015122 | TGM6 | c.1454A>G (p.Asp485Gly) | |
20 | g.2417349A>T | CA408015123 | TGM6 | c.1454A>T (p.Asp485Val) | |
20 | g.2417350C>A | CA408015125 | TGM6 | c.1455C>A (p.Asp485Glu) | |
20 | g.2417350C= | CA2346098404 | TGM6 | c.1455C= (p.Asp485=) | |
20 | g.2417350C>G | CA408015127 | TGM6 | c.1455C>G (p.Asp485Glu) | |
20 | g.2417350C>T | CA509547573 | TGM6 | c.1455C>T (p.Asp485=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417351C>A | CA408015129 | TGM6 | c.1456C>A (p.Leu486Ile) | dbSNP |
20 | g.2417351C= | CA2346098405 | TGM6 | c.1456C= (p.Leu486=) | |
20 | g.2417351C>G | CA408015130 | TGM6 | c.1456C>G (p.Leu486Val) | dbSNP |
20 | g.2417351C>T | CA408015132 | TGM6 | c.1456C>T (p.Leu486Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417352T>A | CA408015133 | TGM6 | c.1457T>A (p.Leu486His) | |
20 | g.2417352T>C | CA408015134 | TGM6 | c.1457T>C (p.Leu486Pro) | |
20 | g.2417352T>G | CA408015136 | TGM6 | c.1457T>G (p.Leu486Arg) | |
20 | g.2417353C>A | CA509547576 | TGM6 | c.1458C>A (p.Leu486=) | |
20 | g.2417353C>G | CA509547575 | TGM6 | c.1458C>G (p.Leu486=) | |
20 | g.2417353C>T | CA509547574 | TGM6 | c.1458C>T (p.Leu486=) | |
20 | g.2417354C>A | CA408015138 | TGM6 | c.1459C>A (p.Leu487Met) | |
20 | g.2417354C>G | CA408015139 | TGM6 | c.1459C>G (p.Leu487Val) | |
20 | g.2417354C>T | CA509547577 | TGM6 | c.1459C>T (p.Leu487=) | gnomAD v4 |
20 | g.2417355T>A | CA408015141 | TGM6 | c.1460T>A (p.Leu487Gln) | |
20 | g.2417355T>C | CA408015143 | TGM6 | c.1460T>C (p.Leu487Pro) | |
20 | g.2417355T>G | CA408015144 | TGM6 | c.1460T>G (p.Leu487Arg) | gnomAD v4 |
20 | g.2417356G>A | CA310850172 | TGM6 | c.1461G>A (p.Leu487=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417356G>C | CA509547578 | TGM6 | c.1461G>C (p.Leu487=) | |
20 | g.2417356G= | CA2346098406 | TGM6 | c.1461G= (p.Leu487=) | |
20 | g.2417356G>T | CA509547579 | TGM6 | c.1461G>T (p.Leu487=) | |
20 | g.2417357G>A | CA408015146 | TGM6 | c.1462G>A (p.Glu488Lys) | |
20 | g.2417357G>C | CA408015147 | TGM6 | c.1462G>C (p.Glu488Gln) | |
20 | g.2417357G= | CA2346098407 | TGM6 | c.1462G= (p.Glu488=) | |
20 | g.2417357G>T | CA310850173 | TGM6 | c.1462G>T (p.Glu488Ter) | dbSNP gnomAD v4 |
20 | g.2417358A>C | CA408015149 | TGM6 | c.1463A>C (p.Glu488Ala) | |
20 | g.2417358A>G | CA408015151 | TGM6 | c.1463A>G (p.Glu488Gly) | |
20 | g.2417358A>T | CA408015153 | TGM6 | c.1463A>T (p.Glu488Val) |