Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.65077396_65077424del | CA2628987120 | KBTBD13 | c.581_609del (p.Pro194ArgfsTer?) | gnomAD v4 |
15 | g.65077420_65077437del | CA2628987124 | KBTBD13 | c.605_622del (p.Ala202_Leu207del) | gnomAD v4 |
15 | g.65077416_65077425delinsCTGGCCGGGG | CA2183439964 | KBTBD13 | c.601_610delinsCTGGCCGGGG (p.Leu201=) | |
15 | g.65077417T>A | CA392861701 | KBTBD13 | c.602T>A (p.Leu201Gln) | |
15 | g.65077417T>C | CA392861703 | KBTBD13 | c.602T>C (p.Leu201Pro) | gnomAD v4 |
15 | g.65077417T>G | CA392861699 | KBTBD13 | c.602T>G (p.Leu201Arg) | gnomAD v4 |
15 | g.65077422_65077430del | CA915946036 | KBTBD13 | c.607_615del (p.Gly203_Ala205del) | ClinVar dbSNP |
15 | g.65077418G>A | CA490899100 | KBTBD13 | c.603G>A (p.Leu201=) | gnomAD v4 |
15 | g.65077418G>C | CA490899101 | KBTBD13 | c.603G>C (p.Leu201=) | |
15 | g.65077418G>T | CA490899103 | KBTBD13 | c.603G>T (p.Leu201=) | gnomAD v4 |
15 | g.65077419G>A | CA392861705 | KBTBD13 | c.604G>A (p.Ala202Thr) | gnomAD v4 COSMIC |
15 | g.65077419G>C | CA392861707 | KBTBD13 | c.604G>C (p.Ala202Pro) | |
15 | g.65077419G>T | CA392861710 | KBTBD13 | c.604G>T (p.Ala202Ser) | gnomAD v4 |
15 | g.65077420C>A | CA392861713 | KBTBD13 | c.605C>A (p.Ala202Asp) | gnomAD v4 |
15 | g.65077420C>G | CA392861716 | KBTBD13 | c.605C>G (p.Ala202Gly) | |
15 | g.65077420C>T | CA392861718 | KBTBD13 | c.605C>T (p.Ala202Val) | gnomAD v4 |
15 | g.65077421C>A | CA490899108 | KBTBD13 | c.606C>A (p.Ala202=) | gnomAD v4 |
15 | g.65077421C= | CA2183439969 | KBTBD13 | c.606C= (p.Ala202=) | |
15 | g.65077421C>G | CA490899109 | KBTBD13 | c.606C>G (p.Ala202=) | |
15 | g.65077421C>T | CA7613944 | KBTBD13 | c.606C>T (p.Ala202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077422G>A | CA392861723 | KBTBD13 | c.607G>A (p.Gly203Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
15 | g.65077422G>C | CA271503774 | KBTBD13 | c.607G>C (p.Gly203Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077422G= | CA2183439970 | KBTBD13 | c.607G= (p.Gly203=) | |
15 | g.65077422G>T | CA392861725 | KBTBD13 | c.607G>T (p.Gly203Trp) | gnomAD v4 |
15 | g.65077425del | CA2628987144 | KBTBD13 | c.610del (p.Val204TrpfsTer22) | gnomAD v4 |
15 | g.65077423G>A | CA392861728 | KBTBD13 | c.608G>A (p.Gly203Glu) | gnomAD v4 |
15 | g.65077423G>C | CA392861731 | KBTBD13 | c.608G>C (p.Gly203Ala) | gnomAD v4 |
15 | g.65077423G>T | CA392861734 | KBTBD13 | c.608G>T (p.Gly203Val) | gnomAD v4 |
15 | g.65077424G>A | CA7613945 | KBTBD13 | c.609G>A (p.Gly203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077424G>C | CA490899114 | KBTBD13 | c.609G>C (p.Gly203=) | |
15 | g.65077424G= | CA2183439973 | KBTBD13 | c.609G= (p.Gly203=) | |
15 | g.65077424G>T | CA490899115 | KBTBD13 | c.609G>T (p.Gly203=) | gnomAD v4 |
15 | g.65077425G>A | CA392861739 | KBTBD13 | c.610G>A (p.Val204Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077425G>C | CA392861743 | KBTBD13 | c.610G>C (p.Val204Leu) | |
15 | g.65077425G= | CA2183439975 | KBTBD13 | c.610G= (p.Val204=) | |
15 | g.65077425G>T | CA392861741 | KBTBD13 | c.610G>T (p.Val204Leu) | ClinVar dbSNP gnomAD v4 |
15 | g.65077426T>A | CA392861746 | KBTBD13 | c.611T>A (p.Val204Glu) | |
15 | g.65077426T>C | CA271503778 | KBTBD13 | c.611T>C (p.Val204Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077426T>G | CA392861749 | KBTBD13 | c.611T>G (p.Val204Gly) | |
15 | g.65077426T= | CA2183439976 | KBTBD13 | c.611T= (p.Val204=) | |
15 | g.65077429_65077437dup | CA970810913 | KBTBD13 | c.614_622dup (p.Leu207_Gly208insAlaThrLeu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077427G>A | CA490899118 | KBTBD13 | c.612G>A (p.Val204=) | |
15 | g.65077427G>C | CA490899120 | KBTBD13 | c.612G>C (p.Val204=) | |
15 | g.65077427G>T | CA490899122 | KBTBD13 | c.612G>T (p.Val204=) | gnomAD v4 |
15 | g.65077428G>A | CA392861752 | KBTBD13 | c.613G>A (p.Ala205Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077428G>C | CA392861755 | KBTBD13 | c.613G>C (p.Ala205Pro) | |
15 | g.65077428G= | CA2183439982 | KBTBD13 | c.613G= (p.Ala205=) | |
15 | g.65077428G>T | CA392861758 | KBTBD13 | c.613G>T (p.Ala205Ser) | gnomAD v4 |
15 | g.65077429C>A | CA392861763 | KBTBD13 | c.614C>A (p.Ala205Asp) | gnomAD v4 |
15 | g.65077429C= | CA2183439983 | KBTBD13 | c.614C= (p.Ala205=) |