| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.134413837del | CA518651024 | PHF6 | c.*519del (n.*519del) c.498del (p.His167ThrfsTer17) c.600del (p.His201ThrfsTer17) c.*212del (n.*212del) c.603del (p.His202ThrfsTer17) | COSMIC |
| X | g.134413837A>C | CA518651019 | PHF6 | c.*519A>C (n.*519A>C) c.498A>C (p.Pro166=) c.600A>C (p.Pro200=) c.*212A>C (n.*212A>C) c.603A>C (p.Pro201=) | |
| X | g.134413837A>G | CA518651021 | PHF6 | c.*519A>G (n.*519A>G) c.498A>G (p.Pro166=) c.600A>G (p.Pro200=) c.*212A>G (n.*212A>G) c.603A>G (p.Pro201=) | |
| X | g.134413837A>T | CA518651023 | PHF6 | c.*519A>T (n.*519A>T) c.498A>T (p.Pro166=) c.600A>T (p.Pro200=) c.*212A>T (n.*212A>T) c.603A>T (p.Pro201=) | |
| X | g.134413838C>A | CA414712794 | PHF6 | c.*520C>A (n.*520C>A) c.499C>A (p.His167Asn) c.601C>A (p.His201Asn) c.*213C>A (n.*213C>A) c.604C>A (p.His202Asn) | |
| X | g.134413838C>G | CA414712792 | PHF6 | c.*520C>G (n.*520C>G) c.499C>G (p.His167Asp) c.601C>G (p.His201Asp) c.*213C>G (n.*213C>G) c.604C>G (p.His202Asp) | |
| X | g.134413838C>T | CA414712793 | PHF6 | c.*520C>T (n.*520C>T) c.499C>T (p.His167Tyr) c.601C>T (p.His201Tyr) c.*213C>T (n.*213C>T) c.604C>T (p.His202Tyr) | |
| X | g.134413839A= | CA2459717450 | PHF6 | c.*521A= (n.*521A=) c.500A= (p.His167=) c.602A= (p.His201=) c.*214A= (n.*214A=) c.605A= (p.His202=) | |
| X | g.134413839A>C | CA414712795 | PHF6 | c.*521A>C (n.*521A>C) c.500A>C (p.His167Pro) c.602A>C (p.His201Pro) c.*214A>C (n.*214A>C) c.605A>C (p.His202Pro) | dbSNP |
| X | g.134413839A>G | CA414712796 | PHF6 | c.*521A>G (n.*521A>G) c.500A>G (p.His167Arg) c.602A>G (p.His201Arg) c.*214A>G (n.*214A>G) c.605A>G (p.His202Arg) | dbSNP |
| X | g.134413839A>T | CA414712797 | PHF6 | c.*521A>T (n.*521A>T) c.500A>T (p.His167Leu) c.602A>T (p.His201Leu) c.*214A>T (n.*214A>T) c.605A>T (p.His202Leu) | |
| X | g.134413840C>A | CA414712798 | PHF6 | c.*522C>A (n.*522C>A) c.501C>A (p.His167Gln) c.603C>A (p.His201Gln) c.*215C>A (n.*215C>A) c.606C>A (p.His202Gln) | |
| X | g.134413840C>G | CA414712799 | PHF6 | c.*522C>G (n.*522C>G) c.501C>G (p.His167Gln) c.603C>G (p.His201Gln) c.*215C>G (n.*215C>G) c.606C>G (p.His202Gln) | |
| X | g.134413840C>T | CA518651030 | PHF6 | c.*522C>T (n.*522C>T) c.501C>T (p.His167=) c.603C>T (p.His201=) c.*215C>T (n.*215C>T) c.606C>T (p.His202=) | |
| X | g.134413841A>C | CA518651032 | PHF6 | c.*523A>C (n.*523A>C) c.502A>C (p.Arg168=) c.604A>C (p.Arg202=) c.*216A>C (n.*216A>C) c.607A>C (p.Arg203=) | |
| X | g.134413841A>G | CA414712800 | PHF6 | c.*523A>G (n.*523A>G) c.502A>G (p.Arg168Gly) c.604A>G (p.Arg202Gly) c.*216A>G (n.*216A>G) c.607A>G (p.Arg203Gly) | gnomAD v4 |
| X | g.134413841A>T | CA414712801 | PHF6 | c.*523A>T (n.*523A>T) c.502A>T (p.Arg168Ter) c.604A>T (p.Arg202Ter) c.*216A>T (n.*216A>T) c.607A>T (p.Arg203Ter) | COSMIC |
| X | g.134413842G>A | CA414712802 | PHF6 | c.*524G>A (n.*524G>A) c.503G>A (p.Arg168Lys) c.605G>A (p.Arg202Lys) c.*217G>A (n.*217G>A) c.608G>A (p.Arg203Lys) | |
| X | g.134413842G>C | CA414712803 | PHF6 | c.*524G>C (n.*524G>C) c.503G>C (p.Arg168Thr) c.605G>C (p.Arg202Thr) c.*217G>C (n.*217G>C) c.608G>C (p.Arg203Thr) | |
| X | g.134413842G>T | CA414712804 | PHF6 | c.*524G>T (n.*524G>T) c.503G>T (p.Arg168Ile) c.605G>T (p.Arg202Ile) c.*217G>T (n.*217G>T) c.608G>T (p.Arg203Ile) | |
| X | g.134413843A>C | CA414712805 | PHF6 | c.*525A>C (n.*525A>C) c.504A>C (p.Arg168Ser) c.606A>C (p.Arg202Ser) c.*218A>C (n.*218A>C) c.609A>C (p.Arg203Ser) | |
| X | g.134413843A>G | CA518651038 | PHF6 | c.*525A>G (n.*525A>G) c.504A>G (p.Arg168=) c.606A>G (p.Arg202=) c.*218A>G (n.*218A>G) c.609A>G (p.Arg203=) | |
| X | g.134413843A>T | CA414712806 | PHF6 | c.*525A>T (n.*525A>T) c.504A>T (p.Arg168Ser) c.606A>T (p.Arg202Ser) c.*218A>T (n.*218A>T) c.609A>T (p.Arg203Ser) | |
| X | g.134413844A>C | CA414712809 | PHF6 | c.*526A>C (n.*526A>C) c.505A>C (p.Ser169Arg) c.607A>C (p.Ser203Arg) c.*219A>C (n.*219A>C) c.610A>C (p.Ser204Arg) | |
| X | g.134413844A>G | CA414712808 | PHF6 | c.*526A>G (n.*526A>G) c.505A>G (p.Ser169Gly) c.607A>G (p.Ser203Gly) c.*219A>G (n.*219A>G) c.610A>G (p.Ser204Gly) | |
| X | g.134413844A>T | CA414712807 | PHF6 | c.*526A>T (n.*526A>T) c.505A>T (p.Ser169Cys) c.607A>T (p.Ser203Cys) c.*219A>T (n.*219A>T) c.610A>T (p.Ser204Cys) | |
| X | g.134413845G>A | CA414712812 | PHF6 | c.*527G>A (n.*527G>A) c.506G>A (p.Ser169Asn) c.608G>A (p.Ser203Asn) c.*220G>A (n.*220G>A) c.611G>A (p.Ser204Asn) | |
| X | g.134413845G>C | CA414712810 | PHF6 | c.*527G>C (n.*527G>C) c.506G>C (p.Ser169Thr) c.608G>C (p.Ser203Thr) c.*220G>C (n.*220G>C) c.611G>C (p.Ser204Thr) | |
| X | g.134413845G>T | CA414712811 | PHF6 | c.*527G>T (n.*527G>T) c.506G>T (p.Ser169Ile) c.608G>T (p.Ser203Ile) c.*220G>T (n.*220G>T) c.611G>T (p.Ser204Ile) | |
| X | g.134413846C>A | CA414712813 | PHF6 | c.*528C>A (n.*528C>A) c.507C>A (p.Ser169Arg) c.609C>A (p.Ser203Arg) c.*221C>A (n.*221C>A) c.612C>A (p.Ser204Arg) | |
| X | g.134413846C>G | CA414712814 | PHF6 | c.*528C>G (n.*528C>G) c.507C>G (p.Ser169Arg) c.609C>G (p.Ser203Arg) c.*221C>G (n.*221C>G) c.612C>G (p.Ser204Arg) | |
| X | g.134413846C>T | CA518651043 | PHF6 | c.*528C>T (n.*528C>T) c.507C>T (p.Ser169=) c.609C>T (p.Ser203=) c.*221C>T (n.*221C>T) c.612C>T (p.Ser204=) | |
| X | g.134413847A>C | CA414712815 | PHF6 | c.*529A>C (n.*529A>C) c.508A>C (p.Ser170Arg) c.610A>C (p.Ser204Arg) c.*222A>C (n.*222A>C) c.613A>C (p.Ser205Arg) | |
| X | g.134413847A>G | CA414712816 | PHF6 | c.*529A>G (n.*529A>G) c.508A>G (p.Ser170Gly) c.610A>G (p.Ser204Gly) c.*222A>G (n.*222A>G) c.613A>G (p.Ser205Gly) | |
| X | g.134413847A>T | CA414712817 | PHF6 | c.*529A>T (n.*529A>T) c.508A>T (p.Ser170Cys) c.610A>T (p.Ser204Cys) c.*222A>T (n.*222A>T) c.613A>T (p.Ser205Cys) | |
| X | g.134413848G>A | CA414712818 | PHF6 | c.*530G>A (n.*530G>A) c.509G>A (p.Ser170Asn) c.611G>A (p.Ser204Asn) c.*223G>A (n.*223G>A) c.614G>A (p.Ser205Asn) | |
| X | g.134413848G>C | CA414712819 | PHF6 | c.*530G>C (n.*530G>C) c.509G>C (p.Ser170Thr) c.611G>C (p.Ser204Thr) c.*223G>C (n.*223G>C) c.614G>C (p.Ser205Thr) | |
| X | g.134413848G>T | CA414712820 | PHF6 | c.*530G>T (n.*530G>T) c.509G>T (p.Ser170Ile) c.611G>T (p.Ser204Ile) c.*223G>T (n.*223G>T) c.614G>T (p.Ser205Ile) | |
| X | g.134413849C>A | CA414712821 | PHF6 | c.*531C>A (n.*531C>A) c.510C>A (p.Ser170Arg) c.612C>A (p.Ser204Arg) c.*224C>A (n.*224C>A) c.615C>A (p.Ser205Arg) | |
| X | g.134413849C>G | CA414712822 | PHF6 | c.*531C>G (n.*531C>G) c.510C>G (p.Ser170Arg) c.612C>G (p.Ser204Arg) c.*224C>G (n.*224C>G) c.615C>G (p.Ser205Arg) | |
| X | g.134413849C>T | CA518651050 | PHF6 | c.*531C>T (n.*531C>T) c.510C>T (p.Ser170=) c.612C>T (p.Ser204=) c.*224C>T (n.*224C>T) c.615C>T (p.Ser205=) | |
| X | g.134413850C>A | CA414712824 | PHF6 | c.*532C>A (n.*532C>A) c.511C>A (p.Pro171Thr) c.613C>A (p.Pro205Thr) c.*225C>A (n.*225C>A) c.616C>A (p.Pro206Thr) | |
| X | g.134413850C>G | CA414712825 | PHF6 | c.*532C>G (n.*532C>G) c.511C>G (p.Pro171Ala) c.613C>G (p.Pro205Ala) c.*225C>G (n.*225C>G) c.616C>G (p.Pro206Ala) | |
| X | g.134413850C>T | CA414712823 | PHF6 | c.*532C>T (n.*532C>T) c.511C>T (p.Pro171Ser) c.613C>T (p.Pro205Ser) c.*225C>T (n.*225C>T) c.616C>T (p.Pro206Ser) | |
| X | g.134413851C>A | CA414712826 | PHF6 | c.*533C>A (n.*533C>A) c.512C>A (p.Pro171His) c.614C>A (p.Pro205His) c.*226C>A (n.*226C>A) c.617C>A (p.Pro206His) | |
| X | g.134413851C>G | CA414712827 | PHF6 | c.*533C>G (n.*533C>G) c.512C>G (p.Pro171Arg) c.614C>G (p.Pro205Arg) c.*226C>G (n.*226C>G) c.617C>G (p.Pro206Arg) | |
| X | g.134413851C>T | CA414712828 | PHF6 | c.*533C>T (n.*533C>T) c.512C>T (p.Pro171Leu) c.614C>T (p.Pro205Leu) c.*226C>T (n.*226C>T) c.617C>T (p.Pro206Leu) | |
| X | g.134413852T>A | CA518651056 | PHF6 | c.*534T>A (n.*534T>A) c.513T>A (p.Pro171=) c.615T>A (p.Pro205=) c.*227T>A (n.*227T>A) c.618T>A (p.Pro206=) | |
| X | g.134413852T>C | CA518651058 | PHF6 | c.*534T>C (n.*534T>C) c.513T>C (p.Pro171=) c.615T>C (p.Pro205=) c.*227T>C (n.*227T>C) c.618T>C (p.Pro206=) | |
| X | g.134413852T>G | CA518651059 | PHF6 | c.*534T>G (n.*534T>G) c.513T>G (p.Pro171=) c.615T>G (p.Pro205=) c.*227T>G (n.*227T>G) c.618T>G (p.Pro206=) |