Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.40471267_40471291del | CA2695219935 | CHST14 | c.54_78del (p.Gly19TrpfsTer19) | |
15 | g.40471276_40471287del | CA2627823994 | CHST14 | c.63_74del (p.Leu22_Ala25del) | gnomAD v4 |
15 | g.40471271_40471298delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | CA2171794986 | CHST14 | c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA (p.Arg20=) | |
15 | g.40471276_40471302del | CA2171794988 | CHST14 | c.63_89del (p.Leu22_Ala30del) | dbSNP gnomAD v4 |
15 | g.40471287C>A | CA10604787 | CHST14 | c.74C>A (p.Ala25Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.40471287C= | CA2171794998 | CHST14 | c.74C= (p.Ala25=) | |
15 | g.40471287C>G | CA391762088 | CHST14 | c.74C>G (p.Ala25Gly) | |
15 | g.40471287C>T | CA391762091 | CHST14 | c.74C>T (p.Ala25Val) | gnomAD v4 |
15 | g.40471290dup | CA391762083 | CHST14 | c.77dup (p.Leu27SerfsTer?) | dbSNP |
15 | g.40471288C>A | CA489764114 | CHST14 | c.75C>A (p.Ala25=) | gnomAD v4 |
15 | g.40471288C>G | CA489764116 | CHST14 | c.75C>G (p.Ala25=) | ClinVar |
15 | g.40471288C>T | CA489764115 | CHST14 | c.75C>T (p.Ala25=) | |
15 | g.40471289C>A | CA391762092 | CHST14 | c.76C>A (p.Pro26Thr) | |
15 | g.40471289C>G | CA391762093 | CHST14 | c.76C>G (p.Pro26Ala) | |
15 | g.40471289C>T | CA391762094 | CHST14 | c.76C>T (p.Pro26Ser) | gnomAD v4 |
15 | g.40471290C>A | CA391762097 | CHST14 | c.77C>A (p.Pro26His) | |
15 | g.40471290C= | CA2171794999 | CHST14 | c.77C= (p.Pro26=) | |
15 | g.40471290C>G | CA391762098 | CHST14 | c.77C>G (p.Pro26Arg) | dbSNP gnomAD v4 |
15 | g.40471290C>T | CA391762099 | CHST14 | c.77C>T (p.Pro26Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40471291T>A | CA489764117 | CHST14 | c.78T>A (p.Pro26=) | dbSNP gnomAD v4 |
15 | g.40471291T>C | CA268822089 | CHST14 | c.78T>C (p.Pro26=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40471291T>G | CA489764118 | CHST14 | c.78T>G (p.Pro26=) | |
15 | g.40471291T= | CA2171795000 | CHST14 | c.78T= (p.Pro26=) | |
15 | g.40471292C>A | CA391762106 | CHST14 | c.79C>A (p.Leu27Met) | gnomAD v4 |
15 | g.40471292C= | CA2171795001 | CHST14 | c.79C= (p.Leu27=) | |
15 | g.40471292C>G | CA391762102 | CHST14 | c.79C>G (p.Leu27Val) | |
15 | g.40471292C>T | CA489764119 | CHST14 | c.79C>T (p.Leu27=) | dbSNP gnomAD v4 |
15 | g.40471293del | CA2575679820 | CHST14 | c.80del (p.Leu27ArgfsTer19) | |
15 | g.40471293T>A | CA391762110 | CHST14 | c.80T>A (p.Leu27Gln) | gnomAD v4 |
15 | g.40471293T>C | CA391762112 | CHST14 | c.80T>C (p.Leu27Pro) | gnomAD v4 |
15 | g.40471293T>G | CA391762115 | CHST14 | c.80T>G (p.Leu27Arg) | |
15 | g.40471294G>A | CA489764120 | CHST14 | c.81G>A (p.Leu27=) | gnomAD v4 |
15 | g.40471294G>C | CA489764121 | CHST14 | c.81G>C (p.Leu27=) | |
15 | g.40471294G>T | CA489764122 | CHST14 | c.81G>T (p.Leu27=) | gnomAD v4 |
15 | g.40471298_40471308del | CA2695219936 | CHST14 | c.85_95del (p.Arg29GlyfsTer?) | |
15 | g.40471295G>A | CA391762116 | CHST14 | c.82G>A (p.Gly28Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40471295G>C | CA391762120 | CHST14 | c.82G>C (p.Gly28Arg) | |
15 | g.40471295G= | CA2171795002 | CHST14 | c.82G= (p.Gly28=) | |
15 | g.40471295G>T | CA391762122 | CHST14 | c.82G>T (p.Gly28Cys) | gnomAD v4 |
15 | g.40471296G>A | CA391762124 | CHST14 | c.83G>A (p.Gly28Asp) | gnomAD v4 COSMIC |
15 | g.40471296G>C | CA391762126 | CHST14 | c.83G>C (p.Gly28Ala) | |
15 | g.40471296G= | CA2171795003 | CHST14 | c.83G= (p.Gly28=) | |
15 | g.40471296G>T | CA391762130 | CHST14 | c.83G>T (p.Gly28Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40471297C>A | CA489764123 | CHST14 | c.84C>A (p.Gly28=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40471297C= | CA2171795004 | CHST14 | c.84C= (p.Gly28=) | |
15 | g.40471297C>G | CA489764124 | CHST14 | c.84C>G (p.Gly28=) | gnomAD v4 |
15 | g.40471297C>T | CA489764125 | CHST14 | c.84C>T (p.Gly28=) | gnomAD v4 |
15 | g.40471298A>C | CA489764126 | CHST14 | c.85A>C (p.Arg29=) | |
15 | g.40471298A>G | CA391762135 | CHST14 | c.85A>G (p.Arg29Gly) | ClinVar |
15 | g.40471298A>T | CA391762137 | CHST14 | c.85A>T (p.Arg29Trp) |