Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.40472091A= | CA2171795393 | CHST14 | c.878A= (p.Tyr293=) c.803A= (p.Tyr268=) | |
15 | g.40472091A>C | CA391767734 | CHST14 | c.878A>C (p.Tyr293Ser) c.803A>C (p.Tyr268Ser) | |
15 | g.40472091A>G | CA281524 | CHST14 | c.878A>G (p.Tyr293Cys) c.803A>G (p.Tyr268Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472091A>T | CA391767740 | CHST14 | c.878A>T (p.Tyr293Phe) c.803A>T (p.Tyr268Phe) | |
15 | g.40472092T>A | CA391767742 | CHST14 | c.879T>A (p.Tyr293Ter) c.804T>A (p.Tyr268Ter) | |
15 | g.40472092T>C | CA489975175 | CHST14 | c.879T>C (p.Tyr293=) c.804T>C (p.Tyr268=) | |
15 | g.40472092T>G | CA391767745 | CHST14 | c.879T>G (p.Tyr293Ter) c.804T>G (p.Tyr268Ter) | |
15 | g.40472093G>A | CA391767751 | CHST14 | c.880G>A (p.Asp294Asn) c.805G>A (p.Asp269Asn) | gnomAD v4 |
15 | g.40472093G>C | CA391767753 | CHST14 | c.880G>C (p.Asp294His) c.805G>C (p.Asp269His) | |
15 | g.40472093G>T | CA391767748 | CHST14 | c.880G>T (p.Asp294Tyr) c.805G>T (p.Asp269Tyr) | |
15 | g.40472094A>C | CA391767757 | CHST14 | c.881A>C (p.Asp294Ala) c.806A>C (p.Asp269Ala) | |
15 | g.40472094A>G | CA391767761 | CHST14 | c.881A>G (p.Asp294Gly) c.806A>G (p.Asp269Gly) | |
15 | g.40472094A>T | CA391767763 | CHST14 | c.881A>T (p.Asp294Val) c.806A>T (p.Asp269Val) | |
15 | g.40472095C>A | CA391767764 | CHST14 | c.882C>A (p.Asp294Glu) c.807C>A (p.Asp269Glu) | |
15 | g.40472095C>G | CA391767765 | CHST14 | c.882C>G (p.Asp294Glu) c.807C>G (p.Asp269Glu) | |
15 | g.40472095C>T | CA489975183 | CHST14 | c.882C>T (p.Asp294=) c.807C>T (p.Asp269=) | |
15 | g.40472096T>A | CA391767766 | CHST14 | c.883T>A (p.Phe295Ile) c.808T>A (p.Phe270Ile) | |
15 | g.40472096T>C | CA391767767 | CHST14 | c.883T>C (p.Phe295Leu) c.808T>C (p.Phe270Leu) | |
15 | g.40472096T>G | CA391767769 | CHST14 | c.883T>G (p.Phe295Val) c.808T>G (p.Phe270Val) | |
15 | g.40472097_40472098del | CA2695219940 | CHST14 | c.884_885del (p.Phe295CysfsTer5) c.809_810del (p.Phe270CysfsTer5) | |
15 | g.40472097T>A | CA391767770 | CHST14 | c.884T>A (p.Phe295Tyr) c.809T>A (p.Phe270Tyr) | dbSNP |
15 | g.40472097T>C | CA391767772 | CHST14 | c.884T>C (p.Phe295Ser) c.809T>C (p.Phe270Ser) | |
15 | g.40472097T>G | CA391767776 | CHST14 | c.884T>G (p.Phe295Cys) c.809T>G (p.Phe270Cys) | |
15 | g.40472097T= | CA2171795394 | CHST14 | c.884T= (p.Phe295=) c.809T= (p.Phe270=) | |
15 | g.40472098T>A | CA391767781 | CHST14 | c.885T>A (p.Phe295Leu) c.810T>A (p.Phe270Leu) | |
15 | g.40472098T>C | CA489975190 | CHST14 | c.885T>C (p.Phe295=) c.810T>C (p.Phe270=) | |
15 | g.40472098T>G | CA391767782 | CHST14 | c.885T>G (p.Phe295Leu) c.810T>G (p.Phe270Leu) | |
15 | g.40472099G>A | CA391767788 | CHST14 | c.886G>A (p.Val296Met) c.811G>A (p.Val271Met) | |
15 | g.40472099G>C | CA391767786 | CHST14 | c.886G>C (p.Val296Leu) c.811G>C (p.Val271Leu) | gnomAD v4 |
15 | g.40472099G>T | CA391767784 | CHST14 | c.886G>T (p.Val296Leu) c.811G>T (p.Val271Leu) | |
15 | g.40472100T>A | CA391767792 | CHST14 | c.887T>A (p.Val296Glu) c.812T>A (p.Val271Glu) | |
15 | g.40472100T>C | CA391767805 | CHST14 | c.887T>C (p.Val296Ala) c.812T>C (p.Val271Ala) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472100T>G | CA391767808 | CHST14 | c.887T>G (p.Val296Gly) c.812T>G (p.Val271Gly) | |
15 | g.40472100T= | CA2171795395 | CHST14 | c.887T= (p.Val296=) c.812T= (p.Val271=) | |
15 | g.40472101G>A | CA489975191 | CHST14 | c.888G>A (p.Val296=) c.813G>A (p.Val271=) | |
15 | g.40472101G>C | CA489975192 | CHST14 | c.888G>C (p.Val296=) c.813G>C (p.Val271=) | gnomAD v4 |
15 | g.40472101G>T | CA489975194 | CHST14 | c.888G>T (p.Val296=) c.813G>T (p.Val271=) | |
15 | g.40472102G>A | CA391767812 | CHST14 | c.889G>A (p.Gly297Ser) c.814G>A (p.Gly272Ser) | COSMIC |
15 | g.40472102G>C | CA391767814 | CHST14 | c.889G>C (p.Gly297Arg) c.814G>C (p.Gly272Arg) | |
15 | g.40472102G>T | CA391767818 | CHST14 | c.889G>T (p.Gly297Cys) c.814G>T (p.Gly272Cys) | |
15 | g.40472104_40472138dup | CA2627824990 | CHST14 | c.891_925dup (p.Val309AlafsTer?) c.816_850dup (p.Val284AlafsTer?) | gnomAD v4 |
15 | g.40472103G>A | CA391767824 | CHST14 | c.890G>A (p.Gly297Asp) c.815G>A (p.Gly272Asp) | gnomAD v4 |
15 | g.40472103G>C | CA391767825 | CHST14 | c.890G>C (p.Gly297Ala) c.815G>C (p.Gly272Ala) | |
15 | g.40472103G>T | CA391767828 | CHST14 | c.890G>T (p.Gly297Val) c.815G>T (p.Gly272Val) | |
15 | g.40472104C>A | CA489975200 | CHST14 | c.891C>A (p.Gly297=) c.816C>A (p.Gly272=) | |
15 | g.40472104C= | CA2171795396 | CHST14 | c.891C= (p.Gly297=) c.816C= (p.Gly272=) | |
15 | g.40472104C>G | CA7481663 | CHST14 | c.891C>G (p.Gly297=) c.816C>G (p.Gly272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472104C>T | CA489975204 | CHST14 | c.891C>T (p.Gly297=) c.816C>T (p.Gly272=) | |
15 | g.40472106_40472108del | CA2627824991 | CHST14 | c.893_895del (p.Ser298del) c.818_820del (p.Ser273del) | gnomAD v4 |
15 | g.40472105T>A | CA391767835 | CHST14 | c.892T>A (p.Ser298Thr) c.817T>A (p.Ser273Thr) | gnomAD v4 |