Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.54042610A>G | CA2693830985 | PHF8 | c.98+21T>C (n.98+21T>C) c.206+21T>C (n.206+21T>C) n.86+21T>C | gnomAD v4 |
X | g.54042611G>A | CA10423685 | PHF8 | c.98+20C>T (n.98+20C>T) c.206+20C>T (n.206+20C>T) n.86+20C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54042611G= | CA2430051078 | PHF8 | c.98+20C= (n.98+20C=) c.206+20C= (n.206+20C=) n.86+20C= | |
X | g.54042612C>A | CA2693830986 | PHF8 | c.98+19G>T (n.98+19G>T) c.206+19G>T (n.206+19G>T) n.86+19G>T | gnomAD v4 |
X | g.54042612C>G | CA2820976729 | PHF8 | c.98+19G>C (n.98+19G>C) c.206+19G>C (n.206+19G>C) n.86+19G>C | |
X | g.54042612C>T | CA2579619963 | PHF8 | c.98+19G>A (n.98+19G>A) c.206+19G>A (n.206+19G>A) n.86+19G>A | |
X | g.54042613C>A | CA2579619964 | PHF8 | c.98+18G>T (n.98+18G>T) c.206+18G>T (n.206+18G>T) n.86+18G>T | |
X | g.54042613C= | CA2430051079 | PHF8 | c.98+18G= (n.98+18G=) c.206+18G= (n.206+18G=) n.86+18G= | |
X | g.54042613C>T | CA2430051080 | PHF8 | c.98+18G>A (n.98+18G>A) c.206+18G>A (n.206+18G>A) n.86+18G>A | dbSNP |
X | g.54042614T>C | CA2693830987 | PHF8 | c.98+17A>G (n.98+17A>G) c.206+17A>G (n.206+17A>G) n.86+17A>G | gnomAD v4 |
X | g.54042615G>A | CA2693830988 | PHF8 | c.98+16C>T (n.98+16C>T) c.206+16C>T (n.206+16C>T) n.86+16C>T | gnomAD v4 |
X | g.54042615G= | CA2430051081 | PHF8 | c.98+16C= (n.98+16C=) c.206+16C= (n.206+16C=) n.86+16C= | |
X | g.54042615G>T | CA2430051082 | PHF8 | c.98+16C>A (n.98+16C>A) c.206+16C>A (n.206+16C>A) n.86+16C>A | dbSNP |
X | g.54042616G>A | CA2693830989 | PHF8 | c.98+15C>T (n.98+15C>T) c.206+15C>T (n.206+15C>T) n.86+15C>T | gnomAD v4 |
X | g.54042616G>C | CA641907070 | PHF8 | c.98+15C>G (n.98+15C>G) c.206+15C>G (n.206+15C>G) n.86+15C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042616G= | CA2430051083 | PHF8 | c.98+15C= (n.98+15C=) c.206+15C= (n.206+15C=) n.86+15C= | |
X | g.54042617C>T | CA2535266428 | PHF8 | c.98+14G>A (n.98+14G>A) c.206+14G>A (n.206+14G>A) n.86+14G>A | |
X | g.54042618C>G | CA2693830990 | PHF8 | c.98+13G>C (n.98+13G>C) c.206+13G>C (n.206+13G>C) n.86+13G>C | gnomAD v4 |
X | g.54042618C>T | CA2693830991 | PHF8 | c.98+13G>A (n.98+13G>A) c.206+13G>A (n.206+13G>A) n.86+13G>A | gnomAD v4 |
X | g.54042619T>G | CA641907071 | PHF8 | c.98+12A>C (n.98+12A>C) c.206+12A>C (n.206+12A>C) n.86+12A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.54042619T= | CA2430051084 | PHF8 | c.98+12A= (n.98+12A=) c.206+12A= (n.206+12A=) n.86+12A= | |
X | g.54042620G>A | CA1133218859 | PHF8 | c.98+11C>T (n.98+11C>T) c.206+11C>T (n.206+11C>T) n.86+11C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.54042620G>C | CA2579619965 | PHF8 | c.98+11C>G (n.98+11C>G) c.206+11C>G (n.206+11C>G) n.86+11C>G | gnomAD v4 |
X | g.54042620G= | CA2430051085 | PHF8 | c.98+11C= (n.98+11C=) c.206+11C= (n.206+11C=) n.86+11C= | |
X | g.54042621C>T | CA2579619966 | PHF8 | c.98+10G>A (n.98+10G>A) c.206+10G>A (n.206+10G>A) n.86+10G>A | gnomAD v4 |
X | g.54042622C= | CA2430051086 | PHF8 | c.98+9G= (n.98+9G=) c.206+9G= (n.206+9G=) n.86+9G= | |
X | g.54042622C>G | CA1133218862 | PHF8 | c.98+9G>C (n.98+9G>C) c.206+9G>C (n.206+9G>C) n.86+9G>C | gnomAD v3 gnomAD v4 |
X | g.54042622C>T | CA10423686 | PHF8 | c.98+9G>A (n.98+9G>A) c.206+9G>A (n.206+9G>A) n.86+9G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042624T>C | CA876338028 | PHF8 | c.98+7A>G (n.98+7A>G) c.206+7A>G (n.206+7A>G) n.86+7A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.54042624T= | CA2430051087 | PHF8 | c.98+7A= (n.98+7A=) c.206+7A= (n.206+7A=) n.86+7A= | |
X | g.54042625C>A | CA2529640643 | PHF8 | c.98+6G>T (n.98+6G>T) c.206+6G>T (n.206+6G>T) n.86+6G>T | |
X | g.54042628del | CA2579619967 | PHF8 | c.98+4del (n.98+4del) c.206+4del (n.206+4del) n.86+4del | |
X | g.54042629A= | CA2430051088 | PHF8 | c.98+2T= (n.98+2T=) c.206+2T= (n.206+2T=) n.86+2T= | |
X | g.54042629A>C | CA413249663 | PHF8 | c.98+2T>G (n.98+2T>G) c.206+2T>G (n.206+2T>G) n.86+2T>G | dbSNP gnomAD v2 |
X | g.54042629A>G | CA413249662 | PHF8 | c.98+2T>C (n.98+2T>C) c.206+2T>C (n.206+2T>C) n.86+2T>C | |
X | g.54042629A>T | CA413249661 | PHF8 | c.98+2T>A (n.98+2T>A) c.206+2T>A (n.206+2T>A) n.86+2T>A | |
X | g.54042630C>A | CA413249664 | PHF8 | c.98+1G>T (n.98+1G>T) c.206+1G>T (n.206+1G>T) n.86+1G>T | |
X | g.54042630C>G | CA413249665 | PHF8 | c.98+1G>C (n.98+1G>C) c.206+1G>C (n.206+1G>C) n.86+1G>C | |
X | g.54042630C>T | CA413249666 | PHF8 | c.98+1G>A (n.98+1G>A) c.206+1G>A (n.206+1G>A) n.86+1G>A | |
X | g.54042631C>A | CA413249667 | PHF8 | c.98G>T (p.Ser33Ile) c.206G>T (p.Ser69Ile) n.86G>T | |
X | g.54042631C>G | CA413249668 | PHF8 | c.98G>C (p.Ser33Thr) c.206G>C (p.Ser69Thr) n.86G>C | |
X | g.54042631C>T | CA413249669 | PHF8 | c.98G>A (p.Ser33Asn) c.206G>A (p.Ser69Asn) n.86G>A | |
X | g.54042632T>A | CA413249670 | PHF8 | c.97A>T (p.Ser33Cys) c.205A>T (p.Ser69Cys) n.85A>T | |
X | g.54042632T>C | CA413249672 | PHF8 | c.97A>G (p.Ser33Gly) c.205A>G (p.Ser69Gly) n.85A>G | |
X | g.54042632T>G | CA413249671 | PHF8 | c.97A>C (p.Ser33Arg) c.205A>C (p.Ser69Arg) n.85A>C | |
X | g.54042633G>A | CA516566180 | PHF8 | c.96C>T (p.Gly32=) c.204C>T (p.Gly68=) n.84C>T | |
X | g.54042633G>C | CA516566181 | PHF8 | c.96C>G (p.Gly32=) c.204C>G (p.Gly68=) n.84C>G | |
X | g.54042633G>T | CA516566182 | PHF8 | c.96C>A (p.Gly32=) c.204C>A (p.Gly68=) n.84C>A | |
X | g.54042634C>A | CA413249673 | PHF8 | c.95G>T (p.Gly32Val) c.203G>T (p.Gly68Val) n.83G>T | |
X | g.54042634C= | CA2430051089 | PHF8 | c.95G= (p.Gly32=) c.203G= (p.Gly68=) n.83G= | |
X | g.54042634C>G | CA413249674 | PHF8 | c.95G>C (p.Gly32Ala) c.203G>C (p.Gly68Ala) n.83G>C | |
X | g.54042634C>T | CA413249675 | PHF8 | c.95G>A (p.Gly32Asp) c.203G>A (p.Gly68Asp) n.83G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.54042635C>A | CA413249676 | PHF8 | c.94G>T (p.Gly32Cys) c.202G>T (p.Gly68Cys) n.82G>T | |
X | g.54042635C>G | CA413249677 | PHF8 | c.94G>C (p.Gly32Arg) c.202G>C (p.Gly68Arg) n.82G>C | |
X | g.54042635C>T | CA413249678 | PHF8 | c.94G>A (p.Gly32Ser) c.202G>A (p.Gly68Ser) n.82G>A | |
X | g.54042636A>C | CA413249679 | PHF8 | c.93T>G (p.His31Gln) c.201T>G (p.His67Gln) n.81T>G | |
X | g.54042636A>G | CA516566183 | PHF8 | c.93T>C (p.His31=) c.201T>C (p.His67=) n.81T>C | |
X | g.54042636A>T | CA413249680 | PHF8 | c.93T>A (p.His31Gln) c.201T>A (p.His67Gln) n.81T>A | |
X | g.54042637T>A | CA413249681 | PHF8 | c.92A>T (p.His31Leu) c.200A>T (p.His67Leu) n.80A>T | |
X | g.54042637T>C | CA413249682 | PHF8 | c.92A>G (p.His31Arg) c.200A>G (p.His67Arg) n.80A>G | |
X | g.54042637T>G | CA413249683 | PHF8 | c.92A>C (p.His31Pro) c.200A>C (p.His67Pro) n.80A>C | |
X | g.54042638G>A | CA413249684 | PHF8 | c.91C>T (p.His31Tyr) c.199C>T (p.His67Tyr) n.79C>T | |
X | g.54042638G>C | CA413249686 | PHF8 | c.91C>G (p.His31Asp) c.199C>G (p.His67Asp) n.79C>G | |
X | g.54042638G>T | CA413249685 | PHF8 | c.91C>A (p.His31Asn) c.199C>A (p.His67Asn) n.79C>A | gnomAD v4 |
X | g.54042639A>C | CA413249687 | PHF8 | c.90T>G (p.Phe30Leu) c.198T>G (p.Phe66Leu) n.78T>G | |
X | g.54042639A>G | CA516566184 | PHF8 | c.90T>C (p.Phe30=) c.198T>C (p.Phe66=) n.78T>C | |
X | g.54042639A>T | CA413249688 | PHF8 | c.90T>A (p.Phe30Leu) c.198T>A (p.Phe66Leu) n.78T>A | |
X | g.54042640A>C | CA413249689 | PHF8 | c.89T>G (p.Phe30Cys) c.197T>G (p.Phe66Cys) n.77T>G | |
X | g.54042640A>G | CA413249690 | PHF8 | c.89T>C (p.Phe30Ser) c.197T>C (p.Phe66Ser) n.77T>C | |
X | g.54042640A>T | CA413249691 | PHF8 | c.89T>A (p.Phe30Tyr) c.197T>A (p.Phe66Tyr) n.77T>A | |
X | g.54042641A>C | CA413249692 | PHF8 | c.88T>G (p.Phe30Val) c.196T>G (p.Phe66Val) n.76T>G | |
X | g.54042641A>G | CA413249693 | PHF8 | c.88T>C (p.Phe30Leu) c.196T>C (p.Phe66Leu) n.76T>C | |
X | g.54042641A>T | CA413249694 | PHF8 | c.88T>A (p.Phe30Ile) c.196T>A (p.Phe66Ile) n.76T>A | |
X | g.54042642C>A | CA413249695 | PHF8 | c.87G>T (p.Trp29Cys) c.195G>T (p.Trp65Cys) n.75G>T | gnomAD v4 |
X | g.54042642C>G | CA413249696 | PHF8 | c.87G>C (p.Trp29Cys) c.195G>C (p.Trp65Cys) n.75G>C | |
X | g.54042642C>T | CA413249697 | PHF8 | c.87G>A (p.Trp29Ter) c.195G>A (p.Trp65Ter) n.75G>A | |
X | g.54042643C>A | CA413249700 | PHF8 | c.86G>T (p.Trp29Leu) c.194G>T (p.Trp65Leu) n.74G>T | |
X | g.54042643C>G | CA413249699 | PHF8 | c.86G>C (p.Trp29Ser) c.194G>C (p.Trp65Ser) n.74G>C | |
X | g.54042643C>T | CA413249698 | PHF8 | c.86G>A (p.Trp29Ter) c.194G>A (p.Trp65Ter) n.74G>A | |
X | g.54042644A>C | CA413249701 | PHF8 | c.85T>G (p.Trp29Gly) c.193T>G (p.Trp65Gly) n.73T>G | |
X | g.54042644A>G | CA413249702 | PHF8 | c.85T>C (p.Trp29Arg) c.193T>C (p.Trp65Arg) n.73T>C | |
X | g.54042644A>T | CA413249703 | PHF8 | c.85T>A (p.Trp29Arg) c.193T>A (p.Trp65Arg) n.73T>A | |
X | g.54042645G>A | CA516566185 | PHF8 | c.84C>T (p.Asp28=) c.192C>T (p.Asp64=) n.72C>T | gnomAD v3 gnomAD v4 |
X | g.54042645G>C | CA413249704 | PHF8 | c.84C>G (p.Asp28Glu) c.192C>G (p.Asp64Glu) n.72C>G | |
X | g.54042645G>T | CA413249705 | PHF8 | c.84C>A (p.Asp28Glu) c.192C>A (p.Asp64Glu) n.72C>A | |
X | g.54042646T>A | CA413249706 | PHF8 | c.83A>T (p.Asp28Val) c.191A>T (p.Asp64Val) n.71A>T | |
X | g.54042646T>C | CA413249707 | PHF8 | c.83A>G (p.Asp28Gly) c.191A>G (p.Asp64Gly) n.71A>G | |
X | g.54042646T>G | CA413249708 | PHF8 | c.83A>C (p.Asp28Ala) c.191A>C (p.Asp64Ala) n.71A>C | |
X | g.54042647C>A | CA413249709 | PHF8 | c.82G>T (p.Asp28Tyr) c.190G>T (p.Asp64Tyr) n.70G>T | |
X | g.54042647C>G | CA413249710 | PHF8 | c.82G>C (p.Asp28His) c.190G>C (p.Asp64His) n.70G>C | |
X | g.54042647C>T | CA413249711 | PHF8 | c.82G>A (p.Asp28Asn) c.190G>A (p.Asp64Asn) n.70G>A | |
X | g.54042648C>A | CA413249712 | PHF8 | c.81G>T (p.Gln27His) c.189G>T (p.Gln63His) n.69G>T | |
X | g.54042648C>G | CA413249713 | PHF8 | c.81G>C (p.Gln27His) c.189G>C (p.Gln63His) n.69G>C | |
X | g.54042648C>T | CA516566186 | PHF8 | c.81G>A (p.Gln27=) c.189G>A (p.Gln63=) n.69G>A | |
X | g.54042649T>A | CA413249716 | PHF8 | c.80A>T (p.Gln27Leu) c.188A>T (p.Gln63Leu) n.68A>T | |
X | g.54042649T>C | CA413249715 | PHF8 | c.80A>G (p.Gln27Arg) c.188A>G (p.Gln63Arg) n.68A>G | |
X | g.54042649T>G | CA413249714 | PHF8 | c.80A>C (p.Gln27Pro) c.188A>C (p.Gln63Pro) n.68A>C | |
X | g.54042650G>A | CA413249717 | PHF8 | c.79C>T (p.Gln27Ter) c.187C>T (p.Gln63Ter) n.67C>T | |
X | g.54042650G>C | CA10423687 | PHF8 | c.79C>G (p.Gln27Glu) c.187C>G (p.Gln63Glu) n.67C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54042650G= | CA2430051090 | PHF8 | c.79C= (p.Gln27=) c.187C= (p.Gln63=) n.67C= | |
X | g.54042650G>T | CA413249718 | PHF8 | c.79C>A (p.Gln27Lys) c.187C>A (p.Gln63Lys) n.67C>A | |
X | g.54042651G>A | CA10423688 | PHF8 | c.78C>T (p.Cys26=) c.186C>T (p.Cys62=) n.66C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.54042651G>C | CA413249719 | PHF8 | c.78C>G (p.Cys26Trp) c.186C>G (p.Cys62Trp) n.66C>G | |
X | g.54042651G= | CA2430051091 | PHF8 | c.78C= (p.Cys26=) c.186C= (p.Cys62=) n.66C= | |
X | g.54042651G>T | CA413249720 | PHF8 | c.78C>A (p.Cys26Ter) c.186C>A (p.Cys62Ter) n.66C>A | |
X | g.54042652C>A | CA413249721 | PHF8 | c.77G>T (p.Cys26Phe) c.185G>T (p.Cys62Phe) n.65G>T | |
X | g.54042652C>G | CA413249722 | PHF8 | c.77G>C (p.Cys26Ser) c.185G>C (p.Cys62Ser) n.65G>C | |
X | g.54042652C>T | CA413249723 | PHF8 | c.77G>A (p.Cys26Tyr) c.185G>A (p.Cys62Tyr) n.65G>A | |
X | g.54042653A>C | CA413249724 | PHF8 | c.76T>G (p.Cys26Gly) c.184T>G (p.Cys62Gly) n.64T>G | |
X | g.54042653A>G | CA413249725 | PHF8 | c.76T>C (p.Cys26Arg) c.184T>C (p.Cys62Arg) n.64T>C | |
X | g.54042653A>T | CA413249726 | PHF8 | c.76T>A (p.Cys26Ser) c.184T>A (p.Cys62Ser) n.64T>A | |
X | g.54042654C>A | CA413249727 | PHF8 | c.75G>T (p.Met25Ile) c.183G>T (p.Met61Ile) n.63G>T | |
X | g.54042654C>G | CA413249728 | PHF8 | c.75G>C (p.Met25Ile) c.183G>C (p.Met61Ile) n.63G>C | |
X | g.54042654C>T | CA413249729 | PHF8 | c.75G>A (p.Met25Ile) c.183G>A (p.Met61Ile) n.63G>A | |
X | g.54042655A>C | CA413249733 | PHF8 | c.74T>G (p.Met25Arg) c.182T>G (p.Met61Arg) n.62T>G | |
X | g.54042655A>G | CA413249730 | PHF8 | c.74T>C (p.Met25Thr) c.182T>C (p.Met61Thr) n.62T>C | |
X | g.54042655A>T | CA413249732 | PHF8 | c.74T>A (p.Met25Lys) c.182T>A (p.Met61Lys) n.62T>A | |
X | g.54042656T>A | CA413249735 | PHF8 | c.73A>T (p.Met25Leu) c.181A>T (p.Met61Leu) n.61A>T | |
X | g.54042656T>C | CA413249736 | PHF8 | c.73A>G (p.Met25Val) c.181A>G (p.Met61Val) n.61A>G | gnomAD v4 |
X | g.54042656T>G | CA413249737 | PHF8 | c.73A>C (p.Met25Leu) c.181A>C (p.Met61Leu) n.61A>C | |
X | g.54042657G>A | CA10423689 | PHF8 | c.72C>T (p.Asp24=) c.180C>T (p.Asp60=) n.60C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54042657G>C | CA413249738 | PHF8 | c.72C>G (p.Asp24Glu) c.180C>G (p.Asp60Glu) n.60C>G | |
X | g.54042657G= | CA2430051092 | PHF8 | c.72C= (p.Asp24=) c.180C= (p.Asp60=) n.60C= | |
X | g.54042657G>T | CA413249739 | PHF8 | c.72C>A (p.Asp24Glu) c.180C>A (p.Asp60Glu) n.60C>A | gnomAD v4 |
X | g.54042658T>A | CA413249740 | PHF8 | c.71A>T (p.Asp24Val) c.179A>T (p.Asp60Val) n.59A>T | |
X | g.54042658T>C | CA413249741 | PHF8 | c.71A>G (p.Asp24Gly) c.179A>G (p.Asp60Gly) n.59A>G | |
X | g.54042658T>G | CA413249742 | PHF8 | c.71A>C (p.Asp24Ala) c.179A>C (p.Asp60Ala) n.59A>C | |
X | g.54042659C>A | CA413249743 | PHF8 | c.70G>T (p.Asp24Tyr) c.178G>T (p.Asp60Tyr) n.58G>T | |
X | g.54042659C>G | CA413249744 | PHF8 | c.70G>C (p.Asp24His) c.178G>C (p.Asp60His) n.58G>C | |
X | g.54042659C>T | CA413249745 | PHF8 | c.70G>A (p.Asp24Asn) c.178G>A (p.Asp60Asn) n.58G>A | |
X | g.54042662_54042663del | CA2820976732 | PHF8 | c.69_70del (p.Cys23Ter) c.177_178del (p.Cys59Ter) n.57_58del | |
X | g.54042660A>C | CA413249747 | PHF8 | c.69T>G (p.Cys23Trp) c.177T>G (p.Cys59Trp) n.57T>G | |
X | g.54042660A>G | CA516566187 | PHF8 | c.69T>C (p.Cys23=) c.177T>C (p.Cys59=) n.57T>C | |
X | g.54042660A>T | CA413249746 | PHF8 | c.69T>A (p.Cys23Ter) c.177T>A (p.Cys59Ter) n.57T>A | |
X | g.54042661C>A | CA413249748 | PHF8 | c.68G>T (p.Cys23Phe) c.176G>T (p.Cys59Phe) n.56G>T | |
X | g.54042661C>G | CA413249749 | PHF8 | c.68G>C (p.Cys23Ser) c.176G>C (p.Cys59Ser) n.56G>C | |
X | g.54042661C>T | CA413249750 | PHF8 | c.68G>A (p.Cys23Tyr) c.176G>A (p.Cys59Tyr) n.56G>A | |
X | g.54042662A>C | CA413249751 | PHF8 | c.67T>G (p.Cys23Gly) c.175T>G (p.Cys59Gly) n.55T>G | |
X | g.54042662A>G | CA413249752 | PHF8 | c.67T>C (p.Cys23Arg) c.175T>C (p.Cys59Arg) n.55T>C | |
X | g.54042662A>T | CA413249753 | PHF8 | c.67T>A (p.Cys23Ser) c.175T>A (p.Cys59Ser) n.55T>A | |
X | g.54042663C>A | CA413249754 | PHF8 | c.66G>T (p.Glu22Asp) c.174G>T (p.Glu58Asp) n.54G>T | |
X | g.54042663C>G | CA413249755 | PHF8 | c.66G>C (p.Glu22Asp) c.174G>C (p.Glu58Asp) n.54G>C | |
X | g.54042663C>T | CA516566188 | PHF8 | c.66G>A (p.Glu22=) c.174G>A (p.Glu58=) n.54G>A | |
X | g.54042664T>A | CA413249756 | PHF8 | c.65A>T (p.Glu22Val) c.173A>T (p.Glu58Val) n.53A>T | |
X | g.54042664T>C | CA413249758 | PHF8 | c.65A>G (p.Glu22Gly) c.173A>G (p.Glu58Gly) n.53A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.54042664T>G | CA413249757 | PHF8 | c.65A>C (p.Glu22Ala) c.173A>C (p.Glu58Ala) n.53A>C | |
X | g.54042664T= | CA2430051093 | PHF8 | c.65A= (p.Glu22=) c.173A= (p.Glu58=) n.53A= | |
X | g.54042665C>A | CA413249759 | PHF8 | c.64G>T (p.Glu22Ter) c.172G>T (p.Glu58Ter) n.52G>T | gnomAD v4 |
X | g.54042665C= | CA2430051094 | PHF8 | c.64G= (p.Glu22=) c.172G= (p.Glu58=) n.52G= | |
X | g.54042665C>G | CA413249760 | PHF8 | c.64G>C (p.Glu22Gln) c.172G>C (p.Glu58Gln) n.52G>C | dbSNP |
X | g.54042665C>T | CA413249762 | PHF8 | c.64G>A (p.Glu22Lys) c.172G>A (p.Glu58Lys) n.52G>A | |
X | g.54042666G>A | CA516566189 | PHF8 | c.63C>T (p.Ile21=) c.171C>T (p.Ile57=) n.51C>T | gnomAD v4 |
X | g.54042666G>C | CA413249764 | PHF8 | c.63C>G (p.Ile21Met) c.171C>G (p.Ile57Met) n.51C>G | |
X | g.54042666G>T | CA516566190 | PHF8 | c.63C>A (p.Ile21=) c.171C>A (p.Ile57=) n.51C>A | |
X | g.54042667A>C | CA413249765 | PHF8 | c.62T>G (p.Ile21Ser) c.170T>G (p.Ile57Ser) n.50T>G | |
X | g.54042667A>G | CA413249767 | PHF8 | c.62T>C (p.Ile21Thr) c.170T>C (p.Ile57Thr) n.50T>C | |
X | g.54042667A>T | CA413249766 | PHF8 | c.62T>A (p.Ile21Asn) c.170T>A (p.Ile57Asn) n.50T>A | |
X | g.54042668T>A | CA413249768 | PHF8 | c.61A>T (p.Ile21Phe) c.169A>T (p.Ile57Phe) n.49A>T | |
X | g.54042668T>C | CA413249769 | PHF8 | c.61A>G (p.Ile21Val) c.169A>G (p.Ile57Val) n.49A>G | |
X | g.54042668T>G | CA413249770 | PHF8 | c.61A>C (p.Ile21Leu) c.169A>C (p.Ile57Leu) n.49A>C | |
X | g.54042669C>A | CA413249771 | PHF8 | c.60G>T (p.Met20Ile) c.168G>T (p.Met56Ile) n.48G>T | |
X | g.54042669C>G | CA413249772 | PHF8 | c.60G>C (p.Met20Ile) c.168G>C (p.Met56Ile) n.48G>C | |
X | g.54042669C>T | CA413249773 | PHF8 | c.60G>A (p.Met20Ile) c.168G>A (p.Met56Ile) n.48G>A | |
X | g.54042670A>C | CA413249774 | PHF8 | c.59T>G (p.Met20Arg) c.167T>G (p.Met56Arg) n.47T>G | |
X | g.54042670A>G | CA413249775 | PHF8 | c.59T>C (p.Met20Thr) c.167T>C (p.Met56Thr) n.47T>C | |
X | g.54042670A>T | CA413249776 | PHF8 | c.59T>A (p.Met20Lys) c.167T>A (p.Met56Lys) n.47T>A | |
X | g.54042671T>A | CA413249777 | PHF8 | c.58A>T (p.Met20Leu) c.166A>T (p.Met56Leu) n.46A>T | |
X | g.54042671T>C | CA413249778 | PHF8 | c.58A>G (p.Met20Val) c.166A>G (p.Met56Val) n.46A>G | |
X | g.54042671T>G | CA413249779 | PHF8 | c.58A>C (p.Met20Leu) c.166A>C (p.Met56Leu) n.46A>C | |
X | g.54042672G>A | CA10423690 | PHF8 | c.57C>T (p.Phe19=) c.165C>T (p.Phe55=) n.45C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.54042672G>C | CA413249781 | PHF8 | c.57C>G (p.Phe19Leu) c.165C>G (p.Phe55Leu) n.45C>G | |
X | g.54042672G= | CA2430051095 | PHF8 | c.57C= (p.Phe19=) c.165C= (p.Phe55=) n.45C= | |
X | g.54042672G>T | CA413249780 | PHF8 | c.57C>A (p.Phe19Leu) c.165C>A (p.Phe55Leu) n.45C>A | |
X | g.54042673A>C | CA413249782 | PHF8 | c.56T>G (p.Phe19Cys) c.164T>G (p.Phe55Cys) n.44T>G | |
X | g.54042673A>G | CA413249784 | PHF8 | c.56T>C (p.Phe19Ser) c.164T>C (p.Phe55Ser) n.44T>C | |
X | g.54042673A>T | CA413249783 | PHF8 | c.56T>A (p.Phe19Tyr) c.164T>A (p.Phe55Tyr) n.44T>A | |
X | g.54042674A>C | CA413249785 | PHF8 | c.55T>G (p.Phe19Val) c.163T>G (p.Phe55Val) n.43T>G | |
X | g.54042674A>G | CA413249787 | PHF8 | c.55T>C (p.Phe19Leu) c.163T>C (p.Phe55Leu) n.43T>C | |
X | g.54042674A>T | CA413249786 | PHF8 | c.55T>A (p.Phe19Ile) c.163T>A (p.Phe55Ile) n.43T>A | |
X | g.54042675G>A | CA10423691 | PHF8 | c.54C>T (p.Arg18=) c.162C>T (p.Arg54=) n.42C>T | dbSNP ExAC gnomAD v2 |
X | g.54042675G>C | CA516566191 | PHF8 | c.54C>G (p.Arg18=) c.162C>G (p.Arg54=) n.42C>G | |
X | g.54042675G= | CA2430051096 | PHF8 | c.54C= (p.Arg18=) c.162C= (p.Arg54=) n.42C= | |
X | g.54042675G>T | CA516566192 | PHF8 | c.54C>A (p.Arg18=) c.162C>A (p.Arg54=) n.42C>A | |
X | g.54042675dup | CA2843604415 | PHF8 | c.54dup (p.Phe19LeufsTer6) c.162dup (p.Phe55LeufsTer6) n.42dup | |
X | g.54042676C>A | CA413249788 | PHF8 | c.53G>T (p.Arg18Leu) c.161G>T (p.Arg54Leu) n.41G>T | |
X | g.54042676C>G | CA413249789 | PHF8 | c.53G>C (p.Arg18Pro) c.161G>C (p.Arg54Pro) n.41G>C | |
X | g.54042676C>T | CA413249790 | PHF8 | c.53G>A (p.Arg18His) c.161G>A (p.Arg54His) n.41G>A | |
X | g.54042677G>A | CA413249791 | PHF8 | c.52C>T (p.Arg18Cys) c.160C>T (p.Arg54Cys) n.40C>T | |
X | g.54042677G>C | CA413249792 | PHF8 | c.52C>G (p.Arg18Gly) c.160C>G (p.Arg54Gly) n.40C>G | |
X | g.54042677G>T | CA413249793 | PHF8 | c.52C>A (p.Arg18Ser) c.160C>A (p.Arg54Ser) n.40C>A | |
X | g.54042678G>A | CA516566195 | PHF8 | c.51C>T (p.Thr17=) c.159C>T (p.Thr53=) n.39C>T | dbSNP |
X | g.54042678G>C | CA516566193 | PHF8 | c.51C>G (p.Thr17=) c.159C>G (p.Thr53=) n.39C>G | |
X | g.54042678G= | CA2430051097 | PHF8 | c.51C= (p.Thr17=) c.159C= (p.Thr53=) n.39C= | |
X | g.54042678G>T | CA516566194 | PHF8 | c.51C>A (p.Thr17=) c.159C>A (p.Thr53=) n.39C>A | COSMIC COSMIC COSMIC COSMIC |
X | g.54042679G>A | CA413249794 | PHF8 | c.50C>T (p.Thr17Ile) c.158C>T (p.Thr53Ile) n.38C>T | |
X | g.54042679G>C | CA413249795 | PHF8 | c.50C>G (p.Thr17Ser) c.158C>G (p.Thr53Ser) n.38C>G | |
X | g.54042679G>T | CA413249796 | PHF8 | c.50C>A (p.Thr17Asn) c.158C>A (p.Thr53Asn) n.38C>A | |
X | g.54042680T>A | CA413249799 | PHF8 | c.49A>T (p.Thr17Ser) c.157A>T (p.Thr53Ser) n.37A>T | |
X | g.54042680T>C | CA413249798 | PHF8 | c.49A>G (p.Thr17Ala) c.157A>G (p.Thr53Ala) n.37A>G | |
X | g.54042680T>G | CA413249797 | PHF8 | c.49A>C (p.Thr17Pro) c.157A>C (p.Thr53Pro) n.37A>C | |
X | g.54042681C>A | CA516566196 | PHF8 | c.48G>T (p.Val16=) c.156G>T (p.Val52=) n.36G>T | |
X | g.54042681C>G | CA516566197 | PHF8 | c.48G>C (p.Val16=) c.156G>C (p.Val52=) n.36G>C | |
X | g.54042681C>T | CA516566198 | PHF8 | c.48G>A (p.Val16=) c.156G>A (p.Val52=) n.36G>A | |
X | g.54042682A>C | CA413249800 | PHF8 | c.47T>G (p.Val16Gly) c.155T>G (p.Val52Gly) n.35T>G | |
X | g.54042682A>G | CA413249801 | PHF8 | c.47T>C (p.Val16Ala) c.155T>C (p.Val52Ala) n.35T>C | |
X | g.54042682A>T | CA413249802 | PHF8 | c.47T>A (p.Val16Glu) c.155T>A (p.Val52Glu) n.35T>A | |
X | g.54042683C>A | CA413249803 | PHF8 | c.46G>T (p.Val16Leu) c.154G>T (p.Val52Leu) n.34G>T | |
X | g.54042683C>G | CA413249804 | PHF8 | c.46G>C (p.Val16Leu) c.154G>C (p.Val52Leu) n.34G>C | |
X | g.54042683C>T | CA413249805 | PHF8 | c.46G>A (p.Val16Met) c.154G>A (p.Val52Met) n.34G>A | gnomAD v4 |
X | g.54042684A>C | CA413249806 | PHF8 | c.45T>G (p.Asp15Glu) c.153T>G (p.Asp51Glu) n.33T>G | |
X | g.54042684A>G | CA516566199 | PHF8 | c.45T>C (p.Asp15=) c.153T>C (p.Asp51=) n.33T>C | |
X | g.54042684A>T | CA413249807 | PHF8 | c.45T>A (p.Asp15Glu) c.153T>A (p.Asp51Glu) n.33T>A | |
X | g.54042685T>A | CA413249808 | PHF8 | c.44A>T (p.Asp15Val) c.152A>T (p.Asp51Val) n.32A>T | |
X | g.54042685T>C | CA413249809 | PHF8 | c.44A>G (p.Asp15Gly) c.152A>G (p.Asp51Gly) n.32A>G | |
X | g.54042685T>G | CA413249810 | PHF8 | c.44A>C (p.Asp15Ala) c.152A>C (p.Asp51Ala) n.32A>C | |
X | g.54042686C>A | CA413249813 | PHF8 | c.43G>T (p.Asp15Tyr) c.151G>T (p.Asp51Tyr) n.31G>T | |
X | g.54042686C>G | CA413249812 | PHF8 | c.43G>C (p.Asp15His) c.151G>C (p.Asp51His) n.31G>C | |
X | g.54042686C>T | CA413249811 | PHF8 | c.43G>A (p.Asp15Asn) c.151G>A (p.Asp51Asn) n.31G>A | COSMIC COSMIC COSMIC COSMIC |
X | g.54042687G>A | CA516566200 | PHF8 | c.42C>T (p.Tyr14=) c.150C>T (p.Tyr50=) n.30C>T | |
X | g.54042687G>C | CA413249814 | PHF8 | c.42C>G (p.Tyr14Ter) c.150C>G (p.Tyr50Ter) n.30C>G | |
X | g.54042687G>T | CA413249815 | PHF8 | c.42C>A (p.Tyr14Ter) c.150C>A (p.Tyr50Ter) n.30C>A | |
X | g.54042688T>A | CA413249816 | PHF8 | c.41A>T (p.Tyr14Phe) c.149A>T (p.Tyr50Phe) n.29A>T | |
X | g.54042688T>C | CA413249817 | PHF8 | c.41A>G (p.Tyr14Cys) c.149A>G (p.Tyr50Cys) n.29A>G | gnomAD v4 |
X | g.54042688T>G | CA413249818 | PHF8 | c.41A>C (p.Tyr14Ser) c.149A>C (p.Tyr50Ser) n.29A>C | |
X | g.54042689A>C | CA413249819 | PHF8 | c.40T>G (p.Tyr14Asp) c.148T>G (p.Tyr50Asp) n.28T>G | |
X | g.54042689A>G | CA413249820 | PHF8 | c.40T>C (p.Tyr14His) c.148T>C (p.Tyr50His) n.28T>C | |
X | g.54042689A>T | CA413249821 | PHF8 | c.40T>A (p.Tyr14Asn) c.148T>A (p.Tyr50Asn) n.28T>A | |
X | g.54042690A>C | CA516566203 | PHF8 | c.39T>G (p.Pro13=) c.147T>G (p.Pro49=) n.27T>G | |
X | g.54042690A>G | CA516566202 | PHF8 | c.39T>C (p.Pro13=) c.147T>C (p.Pro49=) n.27T>C | |
X | g.54042690A>T | CA516566201 | PHF8 | c.39T>A (p.Pro13=) c.147T>A (p.Pro49=) n.27T>A | |
X | g.54042691G>A | CA413249822 | PHF8 | c.38C>T (p.Pro13Leu) c.146C>T (p.Pro49Leu) n.26C>T | |
X | g.54042691G>C | CA413249823 | PHF8 | c.38C>G (p.Pro13Arg) c.146C>G (p.Pro49Arg) n.26C>G | |
X | g.54042691G>T | CA413249824 | PHF8 | c.38C>A (p.Pro13His) c.146C>A (p.Pro49His) n.26C>A | |
X | g.54042692G>A | CA413249827 | PHF8 | c.37C>T (p.Pro13Ser) c.145C>T (p.Pro49Ser) n.25C>T | |
X | g.54042692G>C | CA413249826 | PHF8 | c.37C>G (p.Pro13Ala) c.145C>G (p.Pro49Ala) n.25C>G | |
X | g.54042692G>T | CA413249825 | PHF8 | c.37C>A (p.Pro13Thr) c.145C>A (p.Pro49Thr) n.25C>A | |
X | g.54042693C>A | CA516566204 | PHF8 | c.36G>T (p.Leu12=) c.144G>T (p.Leu48=) n.24G>T | |
X | g.54042693C>G | CA516566206 | PHF8 | c.36G>C (p.Leu12=) c.144G>C (p.Leu48=) n.24G>C | |
X | g.54042693C>T | CA516566205 | PHF8 | c.36G>A (p.Leu12=) c.144G>A (p.Leu48=) n.24G>A | |
X | g.54042694A>C | CA413249828 | PHF8 | c.35T>G (p.Leu12Arg) c.143T>G (p.Leu48Arg) n.23T>G | |
X | g.54042694A>G | CA413249829 | PHF8 | c.35T>C (p.Leu12Pro) c.143T>C (p.Leu48Pro) n.23T>C | |
X | g.54042694A>T | CA413249830 | PHF8 | c.35T>A (p.Leu12Gln) c.143T>A (p.Leu48Gln) n.23T>A | |
X | g.54042695G>A | CA516566207 | PHF8 | c.34C>T (p.Leu12=) c.142C>T (p.Leu48=) n.22C>T | gnomAD v4 |
X | g.54042695G>C | CA413249831 | PHF8 | c.34C>G (p.Leu12Val) c.142C>G (p.Leu48Val) n.22C>G | |
X | g.54042695G>T | CA413249832 | PHF8 | c.34C>A (p.Leu12Met) c.142C>A (p.Leu48Met) n.22C>A | |
X | g.54042696C>A | CA516566208 | PHF8 | c.33G>T (p.Arg11=) c.141G>T (p.Arg47=) n.21G>T | |
X | g.54042696C>G | CA516566209 | PHF8 | c.33G>C (p.Arg11=) c.141G>C (p.Arg47=) n.21G>C | |
X | g.54042696C>T | CA516566210 | PHF8 | c.33G>A (p.Arg11=) c.141G>A (p.Arg47=) n.21G>A | |
X | g.54042697C>A | CA413249833 | PHF8 | c.32G>T (p.Arg11Leu) c.140G>T (p.Arg47Leu) n.20G>T | |
X | g.54042697C= | CA2430051098 | PHF8 | c.32G= (p.Arg11=) c.140G= (p.Arg47=) n.20G= | |
X | g.54042697C>G | CA413249834 | PHF8 | c.32G>C (p.Arg11Pro) c.140G>C (p.Arg47Pro) n.20G>C | |
X | g.54042697C>T | CA413249835 | PHF8 | c.32G>A (p.Arg11Gln) c.140G>A (p.Arg47Gln) n.20G>A | dbSNP |
X | g.54042698G>A | CA413249836 | PHF8 | c.31C>T (p.Arg11Trp) c.139C>T (p.Arg47Trp) n.19C>T | |
X | g.54042698G>C | CA413249837 | PHF8 | c.31C>G (p.Arg11Gly) c.139C>G (p.Arg47Gly) n.19C>G | |
X | g.54042698G>T | CA516566211 | PHF8 | c.31C>A (p.Arg11=) c.139C>A (p.Arg47=) n.19C>A | gnomAD v4 |
X | g.54042699G>A | CA516566212 | PHF8 | c.30C>T (p.Cys10=) c.138C>T (p.Cys46=) n.18C>T | COSMIC COSMIC COSMIC COSMIC |
X | g.54042699G>C | CA413249838 | PHF8 | c.30C>G (p.Cys10Trp) c.138C>G (p.Cys46Trp) n.18C>G | |
X | g.54042699G>T | CA413249839 | PHF8 | c.30C>A (p.Cys10Ter) c.138C>A (p.Cys46Ter) n.18C>A | |
X | g.54042700C>A | CA413249841 | PHF8 | c.29G>T (p.Cys10Phe) c.137G>T (p.Cys46Phe) n.17G>T | |
X | g.54042700C>G | CA413249842 | PHF8 | c.29G>C (p.Cys10Ser) c.137G>C (p.Cys46Ser) n.17G>C | |
X | g.54042700C>T | CA413249840 | PHF8 | c.29G>A (p.Cys10Tyr) c.137G>A (p.Cys46Tyr) n.17G>A | |
X | g.54042701A>C | CA413249845 | PHF8 | c.28T>G (p.Cys10Gly) c.136T>G (p.Cys46Gly) n.16T>G | |
X | g.54042701A>G | CA413249843 | PHF8 | c.28T>C (p.Cys10Arg) c.136T>C (p.Cys46Arg) n.16T>C | |
X | g.54042701A>T | CA413249844 | PHF8 | c.28T>A (p.Cys10Ser) c.136T>A (p.Cys46Ser) n.16T>A | |
X | g.54042702G>A | CA516566213 | PHF8 | c.27C>T (p.Leu9=) c.135C>T (p.Leu45=) n.15C>T | |
X | g.54042702G>C | CA516566214 | PHF8 | c.27C>G (p.Leu9=) c.135C>G (p.Leu45=) n.15C>G | |
X | g.54042702G>T | CA516566215 | PHF8 | c.27C>A (p.Leu9=) c.135C>A (p.Leu45=) n.15C>A | |
X | g.54042703A>C | CA413249846 | PHF8 | c.26T>G (p.Leu9Arg) c.134T>G (p.Leu45Arg) n.14T>G | |
X | g.54042703A>G | CA413249847 | PHF8 | c.26T>C (p.Leu9Pro) c.134T>C (p.Leu45Pro) n.14T>C | |
X | g.54042703A>T | CA413249848 | PHF8 | c.26T>A (p.Leu9His) c.134T>A (p.Leu45His) n.14T>A | |
X | g.54042704G>A | CA413249851 | PHF8 | c.25C>T (p.Leu9Phe) c.133C>T (p.Leu45Phe) n.13C>T | gnomAD v4 |
X | g.54042704G>C | CA413249850 | PHF8 | c.25C>G (p.Leu9Val) c.133C>G (p.Leu45Val) n.13C>G | |
X | g.54042704G>T | CA413249849 | PHF8 | c.25C>A (p.Leu9Ile) c.133C>A (p.Leu45Ile) n.13C>A | |
X | g.54042705G>A | CA10423692 | PHF8 | c.24C>T (p.Cys8=) c.132C>T (p.Cys44=) n.12C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.54042705G>C | CA413249852 | PHF8 | c.24C>G (p.Cys8Trp) c.132C>G (p.Cys44Trp) n.12C>G | |
X | g.54042705G= | CA2430051099 | PHF8 | c.24C= (p.Cys8=) c.132C= (p.Cys44=) n.12C= | |
X | g.54042705G>T | CA413249853 | PHF8 | c.24C>A (p.Cys8Ter) c.132C>A (p.Cys44Ter) n.12C>A | |
X | g.54042706C>A | CA413249854 | PHF8 | c.23G>T (p.Cys8Phe) c.131G>T (p.Cys44Phe) n.11G>T | |
X | g.54042706C>G | CA413249855 | PHF8 | c.23G>C (p.Cys8Ser) c.131G>C (p.Cys44Ser) n.11G>C | |
X | g.54042706C>T | CA413249856 | PHF8 | c.23G>A (p.Cys8Tyr) c.131G>A (p.Cys44Tyr) n.11G>A | |
X | g.54042707A>C | CA413249857 | PHF8 | c.22T>G (p.Cys8Gly) c.130T>G (p.Cys44Gly) n.10T>G | |
X | g.54042707A>G | CA413249859 | PHF8 | c.22T>C (p.Cys8Arg) c.130T>C (p.Cys44Arg) n.10T>C | |
X | g.54042707A>T | CA413249858 | PHF8 | c.22T>A (p.Cys8Ser) c.130T>A (p.Cys44Ser) n.10T>A | |
X | g.54042708A>C | CA413249860 | PHF8 | c.21T>G (p.Tyr7Ter) c.129T>G (p.Tyr43Ter) n.9T>G | |
X | g.54042708A>G | CA516566216 | PHF8 | c.21T>C (p.Tyr7=) c.129T>C (p.Tyr43=) n.9T>C | |
X | g.54042708A>T | CA413249861 | PHF8 | c.21T>A (p.Tyr7Ter) c.129T>A (p.Tyr43Ter) n.9T>A | |
X | g.54042709T>A | CA413249862 | PHF8 | c.20A>T (p.Tyr7Phe) c.128A>T (p.Tyr43Phe) n.8A>T | |
X | g.54042709T>C | CA413249863 | PHF8 | c.20A>G (p.Tyr7Cys) c.128A>G (p.Tyr43Cys) n.8A>G | |
X | g.54042709T>G | CA413249864 | PHF8 | c.20A>C (p.Tyr7Ser) c.128A>C (p.Tyr43Ser) n.8A>C |