Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108518dup | CA2580095322 | GAA | c.1105dup (p.Leu369ProfsTer?) | ClinVar |
17 | g.80108518C>A | CA401364961 | GAA | c.1105C>A (p.Leu369Met) | |
17 | g.80108518C>G | CA401364962 | GAA | c.1105C>G (p.Leu369Val) | gnomAD v4 |
17 | g.80108518C>T | CA502402386 | GAA | c.1105C>T (p.Leu369=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108519T>A | CA401364963 | GAA | c.1106T>A (p.Leu369Gln) | ClinVar |
17 | g.80108519T>C | CA401364964 | GAA | c.1106T>C (p.Leu369Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.80108519T>G | CA401364965 | GAA | c.1106T>G (p.Leu369Arg) | |
17 | g.80108519T= | CA2277812798 | GAA | c.1106T= (p.Leu369=) | |
17 | g.80108520G>A | CA502402387 | GAA | c.1107G>A (p.Leu369=) | ClinVar |
17 | g.80108520G>C | CA502402388 | GAA | c.1107G>C (p.Leu369=) | ClinVar |
17 | g.80108520G= | CA2277812799 | GAA | c.1107G= (p.Leu369=) | |
17 | g.80108520G>T | CA8815172 | GAA | c.1107G>T (p.Leu369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108521G>A | CA401364966 | GAA | c.1108G>A (p.Gly370Ser) | |
17 | g.80108521G>C | CA401364968 | GAA | c.1108G>C (p.Gly370Arg) | |
17 | g.80108521G>T | CA401364967 | GAA | c.1108G>T (p.Gly370Cys) | |
17 | g.80108522G>A | CA401364969 | GAA | c.1109G>A (p.Gly370Asp) | ClinVar dbSNP |
17 | g.80108522G>C | CA401364971 | GAA | c.1109G>C (p.Gly370Ala) | |
17 | g.80108522G= | CA2277812800 | GAA | c.1109G= (p.Gly370=) | |
17 | g.80108522G>T | CA401364970 | GAA | c.1109G>T (p.Gly370Val) | |
17 | g.80108523C>A | CA502402390 | GAA | c.1110C>A (p.Gly370=) | |
17 | g.80108523C= | CA2277812801 | GAA | c.1110C= (p.Gly370=) | |
17 | g.80108523C>G | CA8815173 | GAA | c.1110C>G (p.Gly370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108523C>T | CA502402389 | GAA | c.1110C>T (p.Gly370=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108524T>A | CA401364972 | GAA | c.1111T>A (p.Phe371Ile) | |
17 | g.80108524T>C | CA401364973 | GAA | c.1111T>C (p.Phe371Leu) | |
17 | g.80108524T>G | CA401364974 | GAA | c.1111T>G (p.Phe371Val) | |
17 | g.80108525T>A | CA401364975 | GAA | c.1112T>A (p.Phe371Tyr) | |
17 | g.80108525T>C | CA401364976 | GAA | c.1112T>C (p.Phe371Ser) | |
17 | g.80108525T>G | CA401364977 | GAA | c.1112T>G (p.Phe371Cys) | |
17 | g.80108526C>A | CA401364978 | GAA | c.1113C>A (p.Phe371Leu) | |
17 | g.80108526C>G | CA401364979 | GAA | c.1113C>G (p.Phe371Leu) | |
17 | g.80108526C>T | CA502402391 | GAA | c.1113C>T (p.Phe371=) | |
17 | g.80108527C>A | CA401364980 | GAA | c.1114C>A (p.His372Asn) | |
17 | g.80108527C= | CA2277812802 | GAA | c.1114C= (p.His372=) | |
17 | g.80108527C>G | CA401364981 | GAA | c.1114C>G (p.His372Asp) | dbSNP |
17 | g.80108527C>T | CA401364982 | GAA | c.1114C>T (p.His372Tyr) | ClinVar dbSNP gnomAD v4 |
17 | g.80108528A= | CA2277812803 | GAA | c.1115A= (p.His372=) | |
17 | g.80108528A>C | CA401364983 | GAA | c.1115A>C (p.His372Pro) | |
17 | g.80108528A>G | CA401364984 | GAA | c.1115A>G (p.His372Arg) | |
17 | g.80108528A>T | CA16041889 | GAA | c.1115A>T (p.His372Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.80108529C>A | CA401364985 | GAA | c.1116C>A (p.His372Gln) | dbSNP |
17 | g.80108529C= | CA2277812804 | GAA | c.1116C= (p.His372=) | |
17 | g.80108529C>G | CA401364986 | GAA | c.1116C>G (p.His372Gln) | |
17 | g.80108529C>T | CA8815174 | GAA | c.1116C>T (p.His372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108530del | CA2695200353 | GAA | c.1117del (p.Leu373CysfsTer19) | ClinVar |
17 | g.80108530C>A | CA401364987 | GAA | c.1117C>A (p.Leu373Met) | |
17 | g.80108530C>G | CA401364988 | GAA | c.1117C>G (p.Leu373Val) | |
17 | g.80108530C>T | CA502402392 | GAA | c.1117C>T (p.Leu373=) | |
17 | g.80108531T>A | CA401364989 | GAA | c.1118T>A (p.Leu373Gln) | |
17 | g.80108531T>C | CA401364990 | GAA | c.1118T>C (p.Leu373Pro) |