Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39872423A>C | CA399279990 | ZPBP2 | c.560A>C (p.Tyr187Ser) c.494A>C (p.Tyr165Ser) c.206A>C (p.Tyr69Ser) c.407-621A>C (n.407-621A>C) n.751A>C | gnomAD v4 |
17 | g.39872423A>G | CA399279988 | ZPBP2 | c.560A>G (p.Tyr187Cys) c.494A>G (p.Tyr165Cys) c.206A>G (p.Tyr69Cys) c.407-621A>G (n.407-621A>G) n.751A>G | |
17 | g.39872423A>T | CA399279993 | ZPBP2 | c.560A>T (p.Tyr187Phe) c.494A>T (p.Tyr165Phe) c.206A>T (p.Tyr69Phe) c.407-621A>T (n.407-621A>T) n.751A>T | |
17 | g.39872424del | CA2576255762 | ZPBP2 | c.561del (p.Tyr187Ter) c.495del (p.Tyr165Ter) c.207del (p.Tyr69Ter) c.407-620del (n.407-620del) n.752del | |
17 | g.39872424T>A | CA399279997 | ZPBP2 | c.561T>A (p.Tyr187Ter) c.495T>A (p.Tyr165Ter) c.207T>A (p.Tyr69Ter) c.407-620T>A (n.407-620T>A) n.752T>A | |
17 | g.39872424T>C | CA499931752 | ZPBP2 | c.561T>C (p.Tyr187=) c.495T>C (p.Tyr165=) c.207T>C (p.Tyr69=) c.407-620T>C (n.407-620T>C) n.752T>C | |
17 | g.39872424T>G | CA399279999 | ZPBP2 | c.561T>G (p.Tyr187Ter) c.495T>G (p.Tyr165Ter) c.207T>G (p.Tyr69Ter) c.407-620T>G (n.407-620T>G) n.752T>G | |
17 | g.39872425A>C | CA399280000 | ZPBP2 | c.562A>C (p.Lys188Gln) c.496A>C (p.Lys166Gln) c.208A>C (p.Lys70Gln) c.407-619A>C (n.407-619A>C) n.753A>C | |
17 | g.39872425A>G | CA399280007 | ZPBP2 | c.562A>G (p.Lys188Glu) c.496A>G (p.Lys166Glu) c.208A>G (p.Lys70Glu) c.407-619A>G (n.407-619A>G) n.753A>G | |
17 | g.39872425A>T | CA399280010 | ZPBP2 | c.562A>T (p.Lys188Ter) c.496A>T (p.Lys166Ter) c.208A>T (p.Lys70Ter) c.407-619A>T (n.407-619A>T) n.753A>T | |
17 | g.39872426A>C | CA399280012 | ZPBP2 | c.563A>C (p.Lys188Thr) c.497A>C (p.Lys166Thr) c.209A>C (p.Lys70Thr) c.407-618A>C (n.407-618A>C) n.754A>C | |
17 | g.39872426A>G | CA399280015 | ZPBP2 | c.563A>G (p.Lys188Arg) c.497A>G (p.Lys166Arg) c.209A>G (p.Lys70Arg) c.407-618A>G (n.407-618A>G) n.754A>G | |
17 | g.39872426A>T | CA399280017 | ZPBP2 | c.563A>T (p.Lys188Ile) c.497A>T (p.Lys166Ile) c.209A>T (p.Lys70Ile) c.407-618A>T (n.407-618A>T) n.754A>T | |
17 | g.39872427A>C | CA399280019 | ZPBP2 | c.564A>C (p.Lys188Asn) c.498A>C (p.Lys166Asn) c.210A>C (p.Lys70Asn) c.407-617A>C (n.407-617A>C) n.755A>C | |
17 | g.39872427A>G | CA499931753 | ZPBP2 | c.564A>G (p.Lys188=) c.498A>G (p.Lys166=) c.210A>G (p.Lys70=) c.407-617A>G (n.407-617A>G) n.755A>G | |
17 | g.39872427A>T | CA399280020 | ZPBP2 | c.564A>T (p.Lys188Asn) c.498A>T (p.Lys166Asn) c.210A>T (p.Lys70Asn) c.407-617A>T (n.407-617A>T) n.755A>T | |
17 | g.39872428T>A | CA399280023 | ZPBP2 | c.565T>A (p.Cys189Ser) c.499T>A (p.Cys167Ser) c.211T>A (p.Cys71Ser) c.407-616T>A (n.407-616T>A) n.756T>A | |
17 | g.39872428T>C | CA399280025 | ZPBP2 | c.565T>C (p.Cys189Arg) c.499T>C (p.Cys167Arg) c.211T>C (p.Cys71Arg) c.407-616T>C (n.407-616T>C) n.756T>C | gnomAD v4 |
17 | g.39872428T>G | CA399280026 | ZPBP2 | c.565T>G (p.Cys189Gly) c.499T>G (p.Cys167Gly) c.211T>G (p.Cys71Gly) c.407-616T>G (n.407-616T>G) n.756T>G | |
17 | g.39872429G>A | CA399280027 | ZPBP2 | c.566G>A (p.Cys189Tyr) c.500G>A (p.Cys167Tyr) c.212G>A (p.Cys71Tyr) c.407-615G>A (n.407-615G>A) n.757G>A | dbSNP gnomAD v4 |
17 | g.39872429G>C | CA399280029 | ZPBP2 | c.566G>C (p.Cys189Ser) c.500G>C (p.Cys167Ser) c.212G>C (p.Cys71Ser) c.407-615G>C (n.407-615G>C) n.757G>C | |
17 | g.39872429G= | CA2259290902 | ZPBP2 | c.566G= (p.Cys189=) c.500G= (p.Cys167=) c.212G= (p.Cys71=) c.407-615G= (n.407-615G=) n.757G= | |
17 | g.39872429G>T | CA399280028 | ZPBP2 | c.566G>T (p.Cys189Phe) c.500G>T (p.Cys167Phe) c.212G>T (p.Cys71Phe) c.407-615G>T (n.407-615G>T) n.757G>T | |
17 | g.39872430C>A | CA399280030 | ZPBP2 | c.567C>A (p.Cys189Ter) c.501C>A (p.Cys167Ter) c.213C>A (p.Cys71Ter) c.407-614C>A (n.407-614C>A) n.758C>A | |
17 | g.39872430C>G | CA399280031 | ZPBP2 | c.567C>G (p.Cys189Trp) c.501C>G (p.Cys167Trp) c.213C>G (p.Cys71Trp) c.407-614C>G (n.407-614C>G) n.758C>G | |
17 | g.39872430C>T | CA499931754 | ZPBP2 | c.567C>T (p.Cys189=) c.501C>T (p.Cys167=) c.213C>T (p.Cys71=) c.407-614C>T (n.407-614C>T) n.758C>T | |
17 | g.39872430_39872434delinsCCATT | CA2259290903 | ZPBP2 | c.567_571delinsCCATT (p.Cys189=) c.501_505delinsCCATT (p.Cys167=) c.213_217delinsCCATT (p.Cys71=) c.407-614_407-610delinsCCATT (n.407-614_407-610delinsCCATT) n.758_762delinsCCATT | |
17 | g.39872431C>A | CA399280032 | ZPBP2 | c.568C>A (p.His190Asn) c.502C>A (p.His168Asn) c.214C>A (p.His72Asn) c.407-613C>A (n.407-613C>A) n.759C>A | |
17 | g.39872431C>G | CA399280033 | ZPBP2 | c.568C>G (p.His190Asp) c.502C>G (p.His168Asp) c.214C>G (p.His72Asp) c.407-613C>G (n.407-613C>G) n.759C>G | |
17 | g.39872431C>T | CA399280034 | ZPBP2 | c.568C>T (p.His190Tyr) c.502C>T (p.His168Tyr) c.214C>T (p.His72Tyr) c.407-613C>T (n.407-613C>T) n.759C>T | |
17 | g.39872432_39872435del | CA625946588 | ZPBP2 | c.569_572del (p.His190LeufsTer15) c.503_506del (p.His168LeufsTer15) c.215_218del (p.His72LeufsTer15) c.407-612_407-609del (n.407-612_407-609del) n.760_763del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872431_39872442delinsCATTCTGTTGAA | CA2259290904 | ZPBP2 | c.568_579delinsCATTCTGTTGAA (p.His190=) c.502_513delinsCATTCTGTTGAA (p.His168=) c.214_225delinsCATTCTGTTGAA (p.His72=) c.407-613_407-602delinsCATTCTGTTGAA (n.407-613_407-602delinsCATTCTGTTGAA) n.759_770delinsCATTCTGTTGAA | |
17 | g.39872432A= | CA2259290905 | ZPBP2 | c.569A= (p.His190=) c.503A= (p.His168=) c.215A= (p.His72=) c.407-612A= (n.407-612A=) n.760A= | |
17 | g.39872432A>C | CA399280035 | ZPBP2 | c.569A>C (p.His190Pro) c.503A>C (p.His168Pro) c.215A>C (p.His72Pro) c.407-612A>C (n.407-612A>C) n.760A>C | |
17 | g.39872432A>G | CA399280036 | ZPBP2 | c.569A>G (p.His190Arg) c.503A>G (p.His168Arg) c.215A>G (p.His72Arg) c.407-612A>G (n.407-612A>G) n.760A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872432A>T | CA399280037 | ZPBP2 | c.569A>T (p.His190Leu) c.503A>T (p.His168Leu) c.215A>T (p.His72Leu) c.407-612A>T (n.407-612A>T) n.760A>T | |
17 | g.39872436_39872446del | CA625946589 | ZPBP2 | c.573_583del (p.Val192ArgfsTer7) c.507_517del (p.Val170ArgfsTer7) c.219_229del (p.Val74ArgfsTer7) c.407-608_407-598del (n.407-608_407-598del) n.764_774del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872433T>A | CA399280038 | ZPBP2 | c.570T>A (p.His190Gln) c.504T>A (p.His168Gln) c.216T>A (p.His72Gln) c.407-611T>A (n.407-611T>A) n.761T>A | |
17 | g.39872433T>C | CA499931755 | ZPBP2 | c.570T>C (p.His190=) c.504T>C (p.His168=) c.216T>C (p.His72=) c.407-611T>C (n.407-611T>C) n.761T>C | |
17 | g.39872433T>G | CA399280039 | ZPBP2 | c.570T>G (p.His190Gln) c.504T>G (p.His168Gln) c.216T>G (p.His72Gln) c.407-611T>G (n.407-611T>G) n.761T>G | |
17 | g.39872434T>A | CA8535979 | ZPBP2 | c.571T>A (p.Ser191Thr) c.505T>A (p.Ser169Thr) c.217T>A (p.Ser73Thr) c.407-610T>A (n.407-610T>A) n.762T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872434T>C | CA399280041 | ZPBP2 | c.571T>C (p.Ser191Pro) c.505T>C (p.Ser169Pro) c.217T>C (p.Ser73Pro) c.407-610T>C (n.407-610T>C) n.762T>C | |
17 | g.39872434T>G | CA399280040 | ZPBP2 | c.571T>G (p.Ser191Ala) c.505T>G (p.Ser169Ala) c.217T>G (p.Ser73Ala) c.407-610T>G (n.407-610T>G) n.762T>G | |
17 | g.39872434T= | CA2259290906 | ZPBP2 | c.571T= (p.Ser191=) c.505T= (p.Ser169=) c.217T= (p.Ser73=) c.407-610T= (n.407-610T=) n.762T= | |
17 | g.39872435C>A | CA399280042 | ZPBP2 | c.572C>A (p.Ser191Tyr) c.506C>A (p.Ser169Tyr) c.218C>A (p.Ser73Tyr) c.407-609C>A (n.407-609C>A) n.763C>A | |
17 | g.39872435C>G | CA399280043 | ZPBP2 | c.572C>G (p.Ser191Cys) c.506C>G (p.Ser169Cys) c.218C>G (p.Ser73Cys) c.407-609C>G (n.407-609C>G) n.763C>G | |
17 | g.39872435C>T | CA399280044 | ZPBP2 | c.572C>T (p.Ser191Phe) c.506C>T (p.Ser169Phe) c.218C>T (p.Ser73Phe) c.407-609C>T (n.407-609C>T) n.763C>T | |
17 | g.39872436T>A | CA499931756 | ZPBP2 | c.573T>A (p.Ser191=) c.507T>A (p.Ser169=) c.219T>A (p.Ser73=) c.407-608T>A (n.407-608T>A) n.764T>A | |
17 | g.39872436T>C | CA499931757 | ZPBP2 | c.573T>C (p.Ser191=) c.507T>C (p.Ser169=) c.219T>C (p.Ser73=) c.407-608T>C (n.407-608T>C) n.764T>C | |
17 | g.39872436T>G | CA499931758 | ZPBP2 | c.573T>G (p.Ser191=) c.507T>G (p.Ser169=) c.219T>G (p.Ser73=) c.407-608T>G (n.407-608T>G) n.764T>G | |
17 | g.39872437G>A | CA399280045 | ZPBP2 | c.574G>A (p.Val192Ile) c.508G>A (p.Val170Ile) c.220G>A (p.Val74Ile) c.407-607G>A (n.407-607G>A) n.765G>A | |
17 | g.39872437G>C | CA399280046 | ZPBP2 | c.574G>C (p.Val192Leu) c.508G>C (p.Val170Leu) c.220G>C (p.Val74Leu) c.407-607G>C (n.407-607G>C) n.765G>C | |
17 | g.39872437G>T | CA399280047 | ZPBP2 | c.574G>T (p.Val192Phe) c.508G>T (p.Val170Phe) c.220G>T (p.Val74Phe) c.407-607G>T (n.407-607G>T) n.765G>T | |
17 | g.39872438T>A | CA399280048 | ZPBP2 | c.575T>A (p.Val192Asp) c.509T>A (p.Val170Asp) c.221T>A (p.Val74Asp) c.407-606T>A (n.407-606T>A) n.766T>A | |
17 | g.39872438T>C | CA399280049 | ZPBP2 | c.575T>C (p.Val192Ala) c.509T>C (p.Val170Ala) c.221T>C (p.Val74Ala) c.407-606T>C (n.407-606T>C) n.766T>C | COSMIC |
17 | g.39872438T>G | CA399280050 | ZPBP2 | c.575T>G (p.Val192Gly) c.509T>G (p.Val170Gly) c.221T>G (p.Val74Gly) c.407-606T>G (n.407-606T>G) n.766T>G | |
17 | g.39872439T>A | CA499931759 | ZPBP2 | c.576T>A (p.Val192=) c.510T>A (p.Val170=) c.222T>A (p.Val74=) c.407-605T>A (n.407-605T>A) n.767T>A | |
17 | g.39872439T>C | CA499931760 | ZPBP2 | c.576T>C (p.Val192=) c.510T>C (p.Val170=) c.222T>C (p.Val74=) c.407-605T>C (n.407-605T>C) n.767T>C | |
17 | g.39872439T>G | CA499931761 | ZPBP2 | c.576T>G (p.Val192=) c.510T>G (p.Val170=) c.222T>G (p.Val74=) c.407-605T>G (n.407-605T>G) n.767T>G | |
17 | g.39872440G>A | CA399280051 | ZPBP2 | c.577G>A (p.Glu193Lys) c.511G>A (p.Glu171Lys) c.223G>A (p.Glu75Lys) c.407-604G>A (n.407-604G>A) n.768G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.39872440G>C | CA399280052 | ZPBP2 | c.577G>C (p.Glu193Gln) c.511G>C (p.Glu171Gln) c.223G>C (p.Glu75Gln) c.407-604G>C (n.407-604G>C) n.768G>C | |
17 | g.39872440G= | CA2259290907 | ZPBP2 | c.577G= (p.Glu193=) c.511G= (p.Glu171=) c.223G= (p.Glu75=) c.407-604G= (n.407-604G=) n.768G= | |
17 | g.39872440G>T | CA399280053 | ZPBP2 | c.577G>T (p.Glu193Ter) c.511G>T (p.Glu171Ter) c.223G>T (p.Glu75Ter) c.407-604G>T (n.407-604G>T) n.768G>T | |
17 | g.39872441A= | CA2259290908 | ZPBP2 | c.578A= (p.Glu193=) c.512A= (p.Glu171=) c.224A= (p.Glu75=) c.407-603A= (n.407-603A=) n.769A= | |
17 | g.39872441A>C | CA399280058 | ZPBP2 | c.578A>C (p.Glu193Ala) c.512A>C (p.Glu171Ala) c.224A>C (p.Glu75Ala) c.407-603A>C (n.407-603A>C) n.769A>C | |
17 | g.39872441A>G | CA399280059 | ZPBP2 | c.578A>G (p.Glu193Gly) c.512A>G (p.Glu171Gly) c.224A>G (p.Glu75Gly) c.407-603A>G (n.407-603A>G) n.769A>G | dbSNP gnomAD v4 |
17 | g.39872441A>T | CA399280054 | ZPBP2 | c.578A>T (p.Glu193Val) c.512A>T (p.Glu171Val) c.224A>T (p.Glu75Val) c.407-603A>T (n.407-603A>T) n.769A>T | |
17 | g.39872442A>C | CA399280061 | ZPBP2 | c.579A>C (p.Glu193Asp) c.513A>C (p.Glu171Asp) c.225A>C (p.Glu75Asp) c.407-602A>C (n.407-602A>C) n.770A>C | |
17 | g.39872442A>G | CA499931762 | ZPBP2 | c.579A>G (p.Glu193=) c.513A>G (p.Glu171=) c.225A>G (p.Glu75=) c.407-602A>G (n.407-602A>G) n.770A>G | |
17 | g.39872442A>T | CA399280063 | ZPBP2 | c.579A>T (p.Glu193Asp) c.513A>T (p.Glu171Asp) c.225A>T (p.Glu75Asp) c.407-602A>T (n.407-602A>T) n.770A>T | |
17 | g.39872443A>C | CA399280070 | ZPBP2 | c.580A>C (p.Ile194Leu) c.514A>C (p.Ile172Leu) c.226A>C (p.Ile76Leu) c.407-601A>C (n.407-601A>C) n.771A>C | |
17 | g.39872443A>G | CA399280071 | ZPBP2 | c.580A>G (p.Ile194Val) c.514A>G (p.Ile172Val) c.226A>G (p.Ile76Val) c.407-601A>G (n.407-601A>G) n.771A>G | |
17 | g.39872443A>T | CA399280074 | ZPBP2 | c.580A>T (p.Ile194Phe) c.514A>T (p.Ile172Phe) c.226A>T (p.Ile76Phe) c.407-601A>T (n.407-601A>T) n.771A>T | |
17 | g.39872444T>A | CA399280079 | ZPBP2 | c.581T>A (p.Ile194Asn) c.515T>A (p.Ile172Asn) c.227T>A (p.Ile76Asn) c.407-600T>A (n.407-600T>A) n.772T>A | |
17 | g.39872444T>C | CA399280078 | ZPBP2 | c.581T>C (p.Ile194Thr) c.515T>C (p.Ile172Thr) c.227T>C (p.Ile76Thr) c.407-600T>C (n.407-600T>C) n.772T>C | |
17 | g.39872444T>G | CA399280076 | ZPBP2 | c.581T>G (p.Ile194Ser) c.515T>G (p.Ile172Ser) c.227T>G (p.Ile76Ser) c.407-600T>G (n.407-600T>G) n.772T>G | |
17 | g.39872445T>A | CA499931763 | ZPBP2 | c.582T>A (p.Ile194=) c.516T>A (p.Ile172=) c.228T>A (p.Ile76=) c.407-599T>A (n.407-599T>A) n.773T>A | |
17 | g.39872445T>C | CA499931764 | ZPBP2 | c.582T>C (p.Ile194=) c.516T>C (p.Ile172=) c.228T>C (p.Ile76=) c.407-599T>C (n.407-599T>C) n.773T>C | |
17 | g.39872445T>G | CA399280082 | ZPBP2 | c.582T>G (p.Ile194Met) c.516T>G (p.Ile172Met) c.228T>G (p.Ile76Met) c.407-599T>G (n.407-599T>G) n.773T>G | |
17 | g.39872446C>A | CA399280084 | ZPBP2 | c.583C>A (p.Pro195Thr) c.517C>A (p.Pro173Thr) c.229C>A (p.Pro77Thr) c.407-598C>A (n.407-598C>A) n.774C>A | |
17 | g.39872446C>G | CA399280087 | ZPBP2 | c.583C>G (p.Pro195Ala) c.517C>G (p.Pro173Ala) c.229C>G (p.Pro77Ala) c.407-598C>G (n.407-598C>G) n.774C>G | |
17 | g.39872446C>T | CA399280092 | ZPBP2 | c.583C>T (p.Pro195Ser) c.517C>T (p.Pro173Ser) c.229C>T (p.Pro77Ser) c.407-598C>T (n.407-598C>T) n.774C>T | |
17 | g.39872447C>A | CA399280102 | ZPBP2 | c.584C>A (p.Pro195Gln) c.518C>A (p.Pro173Gln) c.230C>A (p.Pro77Gln) c.407-597C>A (n.407-597C>A) n.775C>A | |
17 | g.39872447C>G | CA399280105 | ZPBP2 | c.584C>G (p.Pro195Arg) c.518C>G (p.Pro173Arg) c.230C>G (p.Pro77Arg) c.407-597C>G (n.407-597C>G) n.775C>G | gnomAD v4 |
17 | g.39872447C>T | CA399280106 | ZPBP2 | c.584C>T (p.Pro195Leu) c.518C>T (p.Pro173Leu) c.230C>T (p.Pro77Leu) c.407-597C>T (n.407-597C>T) n.775C>T | |
17 | g.39872448A= | CA2259290909 | ZPBP2 | c.585A= (p.Pro195=) c.519A= (p.Pro173=) c.231A= (p.Pro77=) c.407-596A= (n.407-596A=) n.776A= | |
17 | g.39872448A>C | CA499931765 | ZPBP2 | c.585A>C (p.Pro195=) c.519A>C (p.Pro173=) c.231A>C (p.Pro77=) c.407-596A>C (n.407-596A>C) n.776A>C | |
17 | g.39872448A>G | CA499931766 | ZPBP2 | c.585A>G (p.Pro195=) c.519A>G (p.Pro173=) c.231A>G (p.Pro77=) c.407-596A>G (n.407-596A>G) n.776A>G | dbSNP |
17 | g.39872448A>T | CA499931767 | ZPBP2 | c.585A>T (p.Pro195=) c.519A>T (p.Pro173=) c.231A>T (p.Pro77=) c.407-596A>T (n.407-596A>T) n.776A>T | |
17 | g.39872449G>A | CA399280108 | ZPBP2 | c.586G>A (p.Glu196Lys) c.520G>A (p.Glu174Lys) c.232G>A (p.Glu78Lys) c.407-595G>A (n.407-595G>A) n.777G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872449G>C | CA399280109 | ZPBP2 | c.586G>C (p.Glu196Gln) c.520G>C (p.Glu174Gln) c.232G>C (p.Glu78Gln) c.407-595G>C (n.407-595G>C) n.777G>C | |
17 | g.39872449G= | CA2259290910 | ZPBP2 | c.586G= (p.Glu196=) c.520G= (p.Glu174=) c.232G= (p.Glu78=) c.407-595G= (n.407-595G=) n.777G= | |
17 | g.39872449G>T | CA399280107 | ZPBP2 | c.586G>T (p.Glu196Ter) c.520G>T (p.Glu174Ter) c.232G>T (p.Glu78Ter) c.407-595G>T (n.407-595G>T) n.777G>T | gnomAD v4 |
17 | g.39872450A= | CA2259290911 | ZPBP2 | c.587A= (p.Glu196=) c.521A= (p.Glu174=) c.233A= (p.Glu78=) c.407-594A= (n.407-594A=) n.778A= | |
17 | g.39872450A>C | CA399280112 | ZPBP2 | c.587A>C (p.Glu196Ala) c.521A>C (p.Glu174Ala) c.233A>C (p.Glu78Ala) c.407-594A>C (n.407-594A>C) n.778A>C | |
17 | g.39872450A>G | CA399280118 | ZPBP2 | c.587A>G (p.Glu196Gly) c.521A>G (p.Glu174Gly) c.233A>G (p.Glu78Gly) c.407-594A>G (n.407-594A>G) n.778A>G | |
17 | g.39872450A>T | CA290455923 | ZPBP2 | c.587A>T (p.Glu196Val) c.521A>T (p.Glu174Val) c.233A>T (p.Glu78Val) c.407-594A>T (n.407-594A>T) n.778A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872451A>C | CA399280124 | ZPBP2 | c.588A>C (p.Glu196Asp) c.522A>C (p.Glu174Asp) c.234A>C (p.Glu78Asp) c.407-593A>C (n.407-593A>C) n.779A>C | |
17 | g.39872451A>G | CA499931768 | ZPBP2 | c.588A>G (p.Glu196=) c.522A>G (p.Glu174=) c.234A>G (p.Glu78=) c.407-593A>G (n.407-593A>G) n.779A>G | |
17 | g.39872451A>T | CA399280126 | ZPBP2 | c.588A>T (p.Glu196Asp) c.522A>T (p.Glu174Asp) c.234A>T (p.Glu78Asp) c.407-593A>T (n.407-593A>T) n.779A>T | |
17 | g.39872452C>A | CA399280142 | ZPBP2 | c.589C>A (p.His197Asn) c.523C>A (p.His175Asn) c.235C>A (p.His79Asn) c.407-592C>A (n.407-592C>A) n.780C>A | |
17 | g.39872452C= | CA2259290912 | ZPBP2 | c.589C= (p.His197=) c.523C= (p.His175=) c.235C= (p.His79=) c.407-592C= (n.407-592C=) n.780C= | |
17 | g.39872452C>G | CA399280143 | ZPBP2 | c.589C>G (p.His197Asp) c.523C>G (p.His175Asp) c.235C>G (p.His79Asp) c.407-592C>G (n.407-592C>G) n.780C>G | |
17 | g.39872452C>T | CA8535980 | ZPBP2 | c.589C>T (p.His197Tyr) c.523C>T (p.His175Tyr) c.235C>T (p.His79Tyr) c.407-592C>T (n.407-592C>T) n.780C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872453A= | CA2259290913 | ZPBP2 | c.590A= (p.His197=) c.524A= (p.His175=) c.236A= (p.His79=) c.407-591A= (n.407-591A=) n.781A= | |
17 | g.39872453A>C | CA399280153 | ZPBP2 | c.590A>C (p.His197Pro) c.524A>C (p.His175Pro) c.236A>C (p.His79Pro) c.407-591A>C (n.407-591A>C) n.781A>C | |
17 | g.39872453A>G | CA8535981 | ZPBP2 | c.590A>G (p.His197Arg) c.524A>G (p.His175Arg) c.236A>G (p.His79Arg) c.407-591A>G (n.407-591A>G) n.781A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872453A>T | CA399280158 | ZPBP2 | c.590A>T (p.His197Leu) c.524A>T (p.His175Leu) c.236A>T (p.His79Leu) c.407-591A>T (n.407-591A>T) n.781A>T | |
17 | g.39872454T>A | CA399280162 | ZPBP2 | c.591T>A (p.His197Gln) c.525T>A (p.His175Gln) c.237T>A (p.His79Gln) c.407-590T>A (n.407-590T>A) n.782T>A | |
17 | g.39872454T>C | CA499931769 | ZPBP2 | c.591T>C (p.His197=) c.525T>C (p.His175=) c.237T>C (p.His79=) c.407-590T>C (n.407-590T>C) n.782T>C | |
17 | g.39872454T>G | CA399280170 | ZPBP2 | c.591T>G (p.His197Gln) c.525T>G (p.His175Gln) c.237T>G (p.His79Gln) c.407-590T>G (n.407-590T>G) n.782T>G | |
17 | g.39872455G>A | CA399280173 | ZPBP2 | c.592G>A (p.Gly198Ser) c.526G>A (p.Gly176Ser) c.238G>A (p.Gly80Ser) c.407-589G>A (n.407-589G>A) n.783G>A | |
17 | g.39872455G>C | CA399280177 | ZPBP2 | c.592G>C (p.Gly198Arg) c.526G>C (p.Gly176Arg) c.238G>C (p.Gly80Arg) c.407-589G>C (n.407-589G>C) n.783G>C | |
17 | g.39872455G>T | CA399280179 | ZPBP2 | c.592G>T (p.Gly198Cys) c.526G>T (p.Gly176Cys) c.238G>T (p.Gly80Cys) c.407-589G>T (n.407-589G>T) n.783G>T | |
17 | g.39872456G>A | CA399280199 | ZPBP2 | c.593G>A (p.Gly198Asp) c.527G>A (p.Gly176Asp) c.239G>A (p.Gly80Asp) c.407-588G>A (n.407-588G>A) n.784G>A | |
17 | g.39872456G>C | CA399280196 | ZPBP2 | c.593G>C (p.Gly198Ala) c.527G>C (p.Gly176Ala) c.239G>C (p.Gly80Ala) c.407-588G>C (n.407-588G>C) n.784G>C | |
17 | g.39872456G>T | CA399280189 | ZPBP2 | c.593G>T (p.Gly198Val) c.527G>T (p.Gly176Val) c.239G>T (p.Gly80Val) c.407-588G>T (n.407-588G>T) n.784G>T | gnomAD v4 |
17 | g.39872457C>A | CA499931772 | ZPBP2 | c.594C>A (p.Gly198=) c.528C>A (p.Gly176=) c.240C>A (p.Gly80=) c.407-587C>A (n.407-587C>A) n.785C>A | |
17 | g.39872457C= | CA2259290914 | ZPBP2 | c.594C= (p.Gly198=) c.528C= (p.Gly176=) c.240C= (p.Gly80=) c.407-587C= (n.407-587C=) n.785C= | |
17 | g.39872457C>G | CA499931771 | ZPBP2 | c.594C>G (p.Gly198=) c.528C>G (p.Gly176=) c.240C>G (p.Gly80=) c.407-587C>G (n.407-587C>G) n.785C>G | |
17 | g.39872457C>T | CA499931770 | ZPBP2 | c.594C>T (p.Gly198=) c.528C>T (p.Gly176=) c.240C>T (p.Gly80=) c.407-587C>T (n.407-587C>T) n.785C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872458C>A | CA399280202 | ZPBP2 | c.595C>A (p.Leu199Ile) c.529C>A (p.Leu177Ile) c.241C>A (p.Leu81Ile) c.407-586C>A (n.407-586C>A) n.786C>A | |
17 | g.39872458C>G | CA399280205 | ZPBP2 | c.595C>G (p.Leu199Val) c.529C>G (p.Leu177Val) c.241C>G (p.Leu81Val) c.407-586C>G (n.407-586C>G) n.786C>G | |
17 | g.39872458C>T | CA399280209 | ZPBP2 | c.595C>T (p.Leu199Phe) c.529C>T (p.Leu177Phe) c.241C>T (p.Leu81Phe) c.407-586C>T (n.407-586C>T) n.786C>T | |
17 | g.39872459T>A | CA399280211 | ZPBP2 | c.596T>A (p.Leu199His) c.530T>A (p.Leu177His) c.242T>A (p.Leu81His) c.407-585T>A (n.407-585T>A) n.787T>A | |
17 | g.39872459T>C | CA399280213 | ZPBP2 | c.596T>C (p.Leu199Pro) c.530T>C (p.Leu177Pro) c.242T>C (p.Leu81Pro) c.407-585T>C (n.407-585T>C) n.787T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872459T>G | CA399280218 | ZPBP2 | c.596T>G (p.Leu199Arg) c.530T>G (p.Leu177Arg) c.242T>G (p.Leu81Arg) c.407-585T>G (n.407-585T>G) n.787T>G | |
17 | g.39872459T= | CA2259290915 | ZPBP2 | c.596T= (p.Leu199=) c.530T= (p.Leu177=) c.242T= (p.Leu81=) c.407-585T= (n.407-585T=) n.787T= | |
17 | g.39872460C>A | CA499931773 | ZPBP2 | c.597C>A (p.Leu199=) c.531C>A (p.Leu177=) c.243C>A (p.Leu81=) c.407-584C>A (n.407-584C>A) n.788C>A | |
17 | g.39872460C= | CA2259290916 | ZPBP2 | c.597C= (p.Leu199=) c.531C= (p.Leu177=) c.243C= (p.Leu81=) c.407-584C= (n.407-584C=) n.788C= | |
17 | g.39872460C>G | CA499931774 | ZPBP2 | c.597C>G (p.Leu199=) c.531C>G (p.Leu177=) c.243C>G (p.Leu81=) c.407-584C>G (n.407-584C>G) n.788C>G | |
17 | g.39872460C>T | CA499931775 | ZPBP2 | c.597C>T (p.Leu199=) c.531C>T (p.Leu177=) c.243C>T (p.Leu81=) c.407-584C>T (n.407-584C>T) n.788C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872461A>C | CA399280221 | ZPBP2 | c.598A>C (p.Ile200Leu) c.532A>C (p.Ile178Leu) c.244A>C (p.Ile82Leu) c.407-583A>C (n.407-583A>C) n.789A>C | |
17 | g.39872461A>G | CA399280222 | ZPBP2 | c.598A>G (p.Ile200Val) c.532A>G (p.Ile178Val) c.244A>G (p.Ile82Val) c.407-583A>G (n.407-583A>G) n.789A>G | gnomAD v4 |
17 | g.39872461A>T | CA399280225 | ZPBP2 | c.598A>T (p.Ile200Leu) c.532A>T (p.Ile178Leu) c.244A>T (p.Ile82Leu) c.407-583A>T (n.407-583A>T) n.789A>T | |
17 | g.39872462T>A | CA8535982 | ZPBP2 | c.599T>A (p.Ile200Lys) c.533T>A (p.Ile178Lys) c.245T>A (p.Ile82Lys) c.407-582T>A (n.407-582T>A) n.790T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872462T>C | CA399280231 | ZPBP2 | c.599T>C (p.Ile200Thr) c.533T>C (p.Ile178Thr) c.245T>C (p.Ile82Thr) c.407-582T>C (n.407-582T>C) n.790T>C | gnomAD v4 |
17 | g.39872462T>G | CA399280232 | ZPBP2 | c.599T>G (p.Ile200Arg) c.533T>G (p.Ile178Arg) c.245T>G (p.Ile82Arg) c.407-582T>G (n.407-582T>G) n.790T>G | |
17 | g.39872462T= | CA2259290917 | ZPBP2 | c.599T= (p.Ile200=) c.533T= (p.Ile178=) c.245T= (p.Ile82=) c.407-582T= (n.407-582T=) n.790T= | |
17 | g.39872463A= | CA2259290918 | ZPBP2 | c.600A= (p.Ile200=) c.534A= (p.Ile178=) c.246A= (p.Ile82=) c.407-581A= (n.407-581A=) n.791A= | |
17 | g.39872463A>C | CA499931776 | ZPBP2 | c.600A>C (p.Ile200=) c.534A>C (p.Ile178=) c.246A>C (p.Ile82=) c.407-581A>C (n.407-581A>C) n.791A>C | |
17 | g.39872463A>G | CA399280233 | ZPBP2 | c.600A>G (p.Ile200Met) c.534A>G (p.Ile178Met) c.246A>G (p.Ile82Met) c.407-581A>G (n.407-581A>G) n.791A>G | dbSNP |
17 | g.39872463A>T | CA499931778 | ZPBP2 | c.600A>T (p.Ile200=) c.534A>T (p.Ile178=) c.246A>T (p.Ile82=) c.407-581A>T (n.407-581A>T) n.791A>T | |
17 | g.39872464C>A | CA399280236 | ZPBP2 | c.601C>A (p.His201Asn) c.535C>A (p.His179Asn) c.247C>A (p.His83Asn) c.407-580C>A (n.407-580C>A) n.792C>A | |
17 | g.39872464C= | CA2259290919 | ZPBP2 | c.601C= (p.His201=) c.535C= (p.His179=) c.247C= (p.His83=) c.407-580C= (n.407-580C=) n.792C= | |
17 | g.39872464C>G | CA8535983 | ZPBP2 | c.601C>G (p.His201Asp) c.535C>G (p.His179Asp) c.247C>G (p.His83Asp) c.407-580C>G (n.407-580C>G) n.792C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872464C>T | CA399280234 | ZPBP2 | c.601C>T (p.His201Tyr) c.535C>T (p.His179Tyr) c.247C>T (p.His83Tyr) c.407-580C>T (n.407-580C>T) n.792C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872464_39872465insTATTT | CA2637649652 | ZPBP2 | c.601_602insTATTT (p.His201LeufsTer7) c.535_536insTATTT (p.His179LeufsTer7) c.247_248insTATTT (p.His83LeufsTer7) c.407-580_407-579insTATTT (n.407-580_407-579insTATTT) n.792_793insTATTT | gnomAD v4 |
17 | g.39872465A>C | CA399280238 | ZPBP2 | c.602A>C (p.His201Pro) c.536A>C (p.His179Pro) c.248A>C (p.His83Pro) c.407-579A>C (n.407-579A>C) n.793A>C | |
17 | g.39872465A>G | CA399280243 | ZPBP2 | c.602A>G (p.His201Arg) c.536A>G (p.His179Arg) c.248A>G (p.His83Arg) c.407-579A>G (n.407-579A>G) n.793A>G | |
17 | g.39872465A>T | CA399280245 | ZPBP2 | c.602A>T (p.His201Leu) c.536A>T (p.His179Leu) c.248A>T (p.His83Leu) c.407-579A>T (n.407-579A>T) n.793A>T | |
17 | g.39872466T>A | CA399280248 | ZPBP2 | c.603T>A (p.His201Gln) c.537T>A (p.His179Gln) c.249T>A (p.His83Gln) c.407-578T>A (n.407-578T>A) n.794T>A | |
17 | g.39872466T>C | CA499931779 | ZPBP2 | c.603T>C (p.His201=) c.537T>C (p.His179=) c.249T>C (p.His83=) c.407-578T>C (n.407-578T>C) n.794T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872466T>G | CA399280251 | ZPBP2 | c.603T>G (p.His201Gln) c.537T>G (p.His179Gln) c.249T>G (p.His83Gln) c.407-578T>G (n.407-578T>G) n.794T>G | |
17 | g.39872466T= | CA2259290920 | ZPBP2 | c.603T= (p.His201=) c.537T= (p.His179=) c.249T= (p.His83=) c.407-578T= (n.407-578T=) n.794T= | |
17 | g.39872466dup | CA2576255763 | ZPBP2 | c.603dup (p.Glu202Ter) c.537dup (p.Glu180Ter) c.249dup (p.Glu84Ter) c.407-578dup (n.407-578dup) n.794dup | |
17 | g.39872467del | CA2637649653 | ZPBP2 | c.604del (p.Glu202SerfsTer4) c.538del (p.Glu180SerfsTer4) c.250del (p.Glu84SerfsTer4) c.407-577del (n.407-577del) n.795del | gnomAD v4 |
17 | g.39872467G>A | CA399280267 | ZPBP2 | c.604G>A (p.Glu202Lys) c.538G>A (p.Glu180Lys) c.250G>A (p.Glu84Lys) c.407-577G>A (n.407-577G>A) n.795G>A | |
17 | g.39872467G>C | CA399280269 | ZPBP2 | c.604G>C (p.Glu202Gln) c.538G>C (p.Glu180Gln) c.250G>C (p.Glu84Gln) c.407-577G>C (n.407-577G>C) n.795G>C | |
17 | g.39872467G>T | CA399280270 | ZPBP2 | c.604G>T (p.Glu202Ter) c.538G>T (p.Glu180Ter) c.250G>T (p.Glu84Ter) c.407-577G>T (n.407-577G>T) n.795G>T | |
17 | g.39872468A>C | CA399280275 | ZPBP2 | c.605A>C (p.Glu202Ala) c.539A>C (p.Glu180Ala) c.251A>C (p.Glu84Ala) c.407-576A>C (n.407-576A>C) n.796A>C | |
17 | g.39872468A>G | CA399280276 | ZPBP2 | c.605A>G (p.Glu202Gly) c.539A>G (p.Glu180Gly) c.251A>G (p.Glu84Gly) c.407-576A>G (n.407-576A>G) n.796A>G | |
17 | g.39872468A>T | CA399280277 | ZPBP2 | c.605A>T (p.Glu202Val) c.539A>T (p.Glu180Val) c.251A>T (p.Glu84Val) c.407-576A>T (n.407-576A>T) n.796A>T | |
17 | g.39872469G>A | CA8535984 | ZPBP2 | c.606G>A (p.Glu202=) c.540G>A (p.Glu180=) c.252G>A (p.Glu84=) c.407-575G>A (n.407-575G>A) n.797G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872469G>C | CA399280279 | ZPBP2 | c.606G>C (p.Glu202Asp) c.540G>C (p.Glu180Asp) c.252G>C (p.Glu84Asp) c.407-575G>C (n.407-575G>C) n.797G>C | |
17 | g.39872469G= | CA2259290921 | ZPBP2 | c.606G= (p.Glu202=) c.540G= (p.Glu180=) c.252G= (p.Glu84=) c.407-575G= (n.407-575G=) n.797G= | |
17 | g.39872469G>T | CA399280278 | ZPBP2 | c.606G>T (p.Glu202Asp) c.540G>T (p.Glu180Asp) c.252G>T (p.Glu84Asp) c.407-575G>T (n.407-575G>T) n.797G>T | |
17 | g.39872470C>A | CA290455972 | ZPBP2 | c.607C>A (p.Leu203Ile) c.541C>A (p.Leu181Ile) c.253C>A (p.Leu85Ile) c.407-574C>A (n.407-574C>A) n.798C>A | dbSNP |
17 | g.39872470C= | CA2259290922 | ZPBP2 | c.607C= (p.Leu203=) c.541C= (p.Leu181=) c.253C= (p.Leu85=) c.407-574C= (n.407-574C=) n.798C= | |
17 | g.39872470C>G | CA399280281 | ZPBP2 | c.607C>G (p.Leu203Val) c.541C>G (p.Leu181Val) c.253C>G (p.Leu85Val) c.407-574C>G (n.407-574C>G) n.798C>G | |
17 | g.39872470C>T | CA499931780 | ZPBP2 | c.607C>T (p.Leu203=) c.541C>T (p.Leu181=) c.253C>T (p.Leu85=) c.407-574C>T (n.407-574C>T) n.798C>T | |
17 | g.39872471del | CA2637649654 | ZPBP2 | c.608del (p.Leu203HisfsTer3) c.542del (p.Leu181HisfsTer3) c.254del (p.Leu85HisfsTer3) c.407-573del (n.407-573del) n.799del | gnomAD v4 |
17 | g.39872471T>A | CA399280285 | ZPBP2 | c.608T>A (p.Leu203Gln) c.542T>A (p.Leu181Gln) c.254T>A (p.Leu85Gln) c.407-573T>A (n.407-573T>A) n.799T>A | |
17 | g.39872471T>C | CA399280287 | ZPBP2 | c.608T>C (p.Leu203Pro) c.542T>C (p.Leu181Pro) c.254T>C (p.Leu85Pro) c.407-573T>C (n.407-573T>C) n.799T>C | |
17 | g.39872471T>G | CA399280289 | ZPBP2 | c.608T>G (p.Leu203Arg) c.542T>G (p.Leu181Arg) c.254T>G (p.Leu85Arg) c.407-573T>G (n.407-573T>G) n.799T>G | |
17 | g.39872472A= | CA2259290923 | ZPBP2 | c.609A= (p.Leu203=) c.543A= (p.Leu181=) c.255A= (p.Leu85=) c.407-572A= (n.407-572A=) n.800A= | |
17 | g.39872472A>C | CA499931781 | ZPBP2 | c.609A>C (p.Leu203=) c.543A>C (p.Leu181=) c.255A>C (p.Leu85=) c.407-572A>C (n.407-572A>C) n.800A>C | dbSNP gnomAD v4 |
17 | g.39872472A>G | CA499931782 | ZPBP2 | c.609A>G (p.Leu203=) c.543A>G (p.Leu181=) c.255A>G (p.Leu85=) c.407-572A>G (n.407-572A>G) n.800A>G | gnomAD v4 |
17 | g.39872472A>T | CA499931783 | ZPBP2 | c.609A>T (p.Leu203=) c.543A>T (p.Leu181=) c.255A>T (p.Leu85=) c.407-572A>T (n.407-572A>T) n.800A>T | |
17 | g.39872473T>A | CA399280292 | ZPBP2 | c.610T>A (p.Phe204Ile) c.544T>A (p.Phe182Ile) c.256T>A (p.Phe86Ile) c.407-571T>A (n.407-571T>A) n.801T>A | |
17 | g.39872473T>C | CA399280295 | ZPBP2 | c.610T>C (p.Phe204Leu) c.544T>C (p.Phe182Leu) c.256T>C (p.Phe86Leu) c.407-571T>C (n.407-571T>C) n.801T>C | |
17 | g.39872473T>G | CA399280296 | ZPBP2 | c.610T>G (p.Phe204Val) c.544T>G (p.Phe182Val) c.256T>G (p.Phe86Val) c.407-571T>G (n.407-571T>G) n.801T>G | |
17 | g.39872474T>A | CA399280297 | ZPBP2 | c.611T>A (p.Phe204Tyr) c.545T>A (p.Phe182Tyr) c.257T>A (p.Phe86Tyr) c.407-570T>A (n.407-570T>A) n.802T>A | |
17 | g.39872474T>C | CA399280299 | ZPBP2 | c.611T>C (p.Phe204Ser) c.545T>C (p.Phe182Ser) c.257T>C (p.Phe86Ser) c.407-570T>C (n.407-570T>C) n.802T>C | |
17 | g.39872474T>G | CA399280300 | ZPBP2 | c.611T>G (p.Phe204Cys) c.545T>G (p.Phe182Cys) c.257T>G (p.Phe86Cys) c.407-570T>G (n.407-570T>G) n.802T>G | |
17 | g.39872475T>A | CA399280303 | ZPBP2 | c.612T>A (p.Phe204Leu) c.546T>A (p.Phe182Leu) c.258T>A (p.Phe86Leu) c.407-569T>A (n.407-569T>A) n.803T>A | |
17 | g.39872475T>C | CA499931784 | ZPBP2 | c.612T>C (p.Phe204=) c.546T>C (p.Phe182=) c.258T>C (p.Phe86=) c.407-569T>C (n.407-569T>C) n.803T>C | |
17 | g.39872475T>G | CA399280301 | ZPBP2 | c.612T>G (p.Phe204Leu) c.546T>G (p.Phe182Leu) c.258T>G (p.Phe86Leu) c.407-569T>G (n.407-569T>G) n.803T>G | |
17 | g.39872476A= | CA2259290924 | ZPBP2 | c.613A= (p.Ile205=) c.547A= (p.Ile183=) c.259A= (p.Ile87=) c.407-568A= (n.407-568A=) n.804A= | |
17 | g.39872476A>C | CA399280312 | ZPBP2 | c.613A>C (p.Ile205Leu) c.547A>C (p.Ile183Leu) c.259A>C (p.Ile87Leu) c.407-568A>C (n.407-568A>C) n.804A>C | |
17 | g.39872476A>G | CA399280315 | ZPBP2 | c.613A>G (p.Ile205Val) c.547A>G (p.Ile183Val) c.259A>G (p.Ile87Val) c.407-568A>G (n.407-568A>G) n.804A>G | dbSNP gnomAD v4 |
17 | g.39872476A>T | CA399280316 | ZPBP2 | c.613A>T (p.Ile205Leu) c.547A>T (p.Ile183Leu) c.259A>T (p.Ile87Leu) c.407-568A>T (n.407-568A>T) n.804A>T | |
17 | g.39872477T>A | CA399280320 | ZPBP2 | c.614T>A (p.Ile205Lys) c.548T>A (p.Ile183Lys) c.260T>A (p.Ile87Lys) c.407-567T>A (n.407-567T>A) n.805T>A | |
17 | g.39872477T>C | CA399280322 | ZPBP2 | c.614T>C (p.Ile205Thr) c.548T>C (p.Ile183Thr) c.260T>C (p.Ile87Thr) c.407-567T>C (n.407-567T>C) n.805T>C | |
17 | g.39872477T>G | CA399280325 | ZPBP2 | c.614T>G (p.Ile205Arg) c.548T>G (p.Ile183Arg) c.260T>G (p.Ile87Arg) c.407-567T>G (n.407-567T>G) n.805T>G | |
17 | g.39872478A= | CA2259290925 | ZPBP2 | c.615A= (p.Ile205=) c.549A= (p.Ile183=) c.261A= (p.Ile87=) c.407-566A= (n.407-566A=) n.806A= | |
17 | g.39872478A>C | CA499931785 | ZPBP2 | c.615A>C (p.Ile205=) c.549A>C (p.Ile183=) c.261A>C (p.Ile87=) c.407-566A>C (n.407-566A>C) n.806A>C | |
17 | g.39872478A>G | CA8535985 | ZPBP2 | c.615A>G (p.Ile205Met) c.549A>G (p.Ile183Met) c.261A>G (p.Ile87Met) c.407-566A>G (n.407-566A>G) n.806A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872478A>T | CA499931786 | ZPBP2 | c.615A>T (p.Ile205=) c.549A>T (p.Ile183=) c.261A>T (p.Ile87=) c.407-566A>T (n.407-566A>T) n.806A>T | gnomAD v4 |
17 | g.39872479G>A | CA399280329 | ZPBP2 | c.616G>A (p.Ala206Thr) c.550G>A (p.Ala184Thr) c.262G>A (p.Ala88Thr) c.407-565G>A (n.407-565G>A) n.807G>A | |
17 | g.39872479G>C | CA399280332 | ZPBP2 | c.616G>C (p.Ala206Pro) c.550G>C (p.Ala184Pro) c.262G>C (p.Ala88Pro) c.407-565G>C (n.407-565G>C) n.807G>C | |
17 | g.39872479G= | CA2259290926 | ZPBP2 | c.616G= (p.Ala206=) c.550G= (p.Ala184=) c.262G= (p.Ala88=) c.407-565G= (n.407-565G=) n.807G= | |
17 | g.39872479G>T | CA399280333 | ZPBP2 | c.616G>T (p.Ala206Ser) c.550G>T (p.Ala184Ser) c.262G>T (p.Ala88Ser) c.407-565G>T (n.407-565G>T) n.807G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872480C>A | CA399280335 | ZPBP2 | c.617C>A (p.Ala206Glu) c.551C>A (p.Ala184Glu) c.263C>A (p.Ala88Glu) c.407-564C>A (n.407-564C>A) n.808C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872480C= | CA2259290927 | ZPBP2 | c.617C= (p.Ala206=) c.551C= (p.Ala184=) c.263C= (p.Ala88=) c.407-564C= (n.407-564C=) n.808C= | |
17 | g.39872480C>G | CA399280336 | ZPBP2 | c.617C>G (p.Ala206Gly) c.551C>G (p.Ala184Gly) c.263C>G (p.Ala88Gly) c.407-564C>G (n.407-564C>G) n.808C>G | gnomAD v4 |
17 | g.39872480C>T | CA399280337 | ZPBP2 | c.617C>T (p.Ala206Val) c.551C>T (p.Ala184Val) c.263C>T (p.Ala88Val) c.407-564C>T (n.407-564C>T) n.808C>T | gnomAD v4 |
17 | g.39872481A>C | CA499931787 | ZPBP2 | c.618A>C (p.Ala206=) c.552A>C (p.Ala184=) c.264A>C (p.Ala88=) c.407-563A>C (n.407-563A>C) n.809A>C | |
17 | g.39872481A>G | CA499931788 | ZPBP2 | c.618A>G (p.Ala206=) c.552A>G (p.Ala184=) c.264A>G (p.Ala88=) c.407-563A>G (n.407-563A>G) n.809A>G | |
17 | g.39872481A>T | CA499931789 | ZPBP2 | c.618A>T (p.Ala206=) c.552A>T (p.Ala184=) c.264A>T (p.Ala88=) c.407-563A>T (n.407-563A>T) n.809A>T | |
17 | g.39872482T>A | CA399280341 | ZPBP2 | c.619T>A (p.Phe207Ile) c.553T>A (p.Phe185Ile) c.265T>A (p.Phe89Ile) c.407-562T>A (n.407-562T>A) n.810T>A | |
17 | g.39872482T>C | CA399280340 | ZPBP2 | c.619T>C (p.Phe207Leu) c.553T>C (p.Phe185Leu) c.265T>C (p.Phe89Leu) c.407-562T>C (n.407-562T>C) n.810T>C | gnomAD v4 |
17 | g.39872482T>G | CA399280338 | ZPBP2 | c.619T>G (p.Phe207Val) c.553T>G (p.Phe185Val) c.265T>G (p.Phe89Val) c.407-562T>G (n.407-562T>G) n.810T>G | |
17 | g.39872483T>A | CA399280342 | ZPBP2 | c.620T>A (p.Phe207Tyr) c.554T>A (p.Phe185Tyr) c.266T>A (p.Phe89Tyr) c.407-561T>A (n.407-561T>A) n.811T>A | |
17 | g.39872483T>C | CA399280345 | ZPBP2 | c.620T>C (p.Phe207Ser) c.554T>C (p.Phe185Ser) c.266T>C (p.Phe89Ser) c.407-561T>C (n.407-561T>C) n.811T>C | |
17 | g.39872483T>G | CA290455973 | ZPBP2 | c.620T>G (p.Phe207Cys) c.554T>G (p.Phe185Cys) c.266T>G (p.Phe89Cys) c.407-561T>G (n.407-561T>G) n.811T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872483T= | CA2259290928 | ZPBP2 | c.620T= (p.Phe207=) c.554T= (p.Phe185=) c.266T= (p.Phe89=) c.407-561T= (n.407-561T=) n.811T= | |
17 | g.39872484T>A | CA399280349 | ZPBP2 | c.621T>A (p.Phe207Leu) c.555T>A (p.Phe185Leu) c.267T>A (p.Phe89Leu) c.407-560T>A (n.407-560T>A) n.812T>A | |
17 | g.39872484T>C | CA499931790 | ZPBP2 | c.621T>C (p.Phe207=) c.555T>C (p.Phe185=) c.267T>C (p.Phe89=) c.407-560T>C (n.407-560T>C) n.812T>C | |
17 | g.39872484T>G | CA399280351 | ZPBP2 | c.621T>G (p.Phe207Leu) c.555T>G (p.Phe185Leu) c.267T>G (p.Phe89Leu) c.407-560T>G (n.407-560T>G) n.812T>G | |
17 | g.39872485C>A | CA399280352 | ZPBP2 | c.622C>A (p.Gln208Lys) c.556C>A (p.Gln186Lys) c.268C>A (p.Gln90Lys) c.407-559C>A (n.407-559C>A) n.813C>A | gnomAD v4 |
17 | g.39872485C= | CA2259290930 | ZPBP2 | c.622C= (p.Gln208=) c.556C= (p.Gln186=) c.268C= (p.Gln90=) c.407-559C= (n.407-559C=) n.813C= | |
17 | g.39872485C>G | CA399280353 | ZPBP2 | c.622C>G (p.Gln208Glu) c.556C>G (p.Gln186Glu) c.268C>G (p.Gln90Glu) c.407-559C>G (n.407-559C>G) n.813C>G | |
17 | g.39872485C>T | CA399280355 | ZPBP2 | c.622C>T (p.Gln208Ter) c.556C>T (p.Gln186Ter) c.268C>T (p.Gln90Ter) c.407-559C>T (n.407-559C>T) n.813C>T | dbSNP gnomAD v4 |
17 | g.39872485_39872486delinsCA | CA2259290929 | ZPBP2 | c.622_623delinsCA (p.Gln208=) c.556_557delinsCA (p.Gln186=) c.268_269delinsCA (p.Gln90=) c.407-559_407-558delinsCA (n.407-559_407-558delinsCA) n.813_814delinsCA | |
17 | g.39872486A>C | CA399280359 | ZPBP2 | c.623A>C (p.Gln208Pro) c.557A>C (p.Gln186Pro) c.269A>C (p.Gln90Pro) c.407-558A>C (n.407-558A>C) n.814A>C | |
17 | g.39872486A>G | CA399280361 | ZPBP2 | c.623A>G (p.Gln208Arg) c.557A>G (p.Gln186Arg) c.269A>G (p.Gln90Arg) c.407-558A>G (n.407-558A>G) n.814A>G | |
17 | g.39872486A>T | CA399280363 | ZPBP2 | c.623A>T (p.Gln208Leu) c.557A>T (p.Gln186Leu) c.269A>T (p.Gln90Leu) c.407-558A>T (n.407-558A>T) n.814A>T | |
17 | g.39872487del | CA8535986 | ZPBP2 | c.624del (p.Val209LeufsTer?) c.558del (p.Val187LeufsTer?) c.270del (p.Val91LeufsTer?) c.407-557del (n.407-557del) c.624del (p.Val209LeufsTer29) n.815del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872487A>C | CA399280367 | ZPBP2 | c.624A>C (p.Gln208His) c.558A>C (p.Gln186His) c.270A>C (p.Gln90His) c.407-557A>C (n.407-557A>C) n.815A>C | |
17 | g.39872487A>G | CA499931791 | ZPBP2 | c.624A>G (p.Gln208=) c.558A>G (p.Gln186=) c.270A>G (p.Gln90=) c.407-557A>G (n.407-557A>G) n.815A>G | |
17 | g.39872487A>T | CA399280370 | ZPBP2 | c.624A>T (p.Gln208His) c.558A>T (p.Gln186His) c.270A>T (p.Gln90His) c.407-557A>T (n.407-557A>T) n.815A>T | |
17 | g.39872488G>A | CA399280379 | ZPBP2 | c.625G>A (p.Val209Ile) c.559G>A (p.Val187Ile) c.271G>A (p.Val91Ile) c.407-556G>A (n.407-556G>A) n.816G>A | gnomAD v4 |
17 | g.39872488G>C | CA399280381 | ZPBP2 | c.625G>C (p.Val209Leu) c.559G>C (p.Val187Leu) c.271G>C (p.Val91Leu) c.407-556G>C (n.407-556G>C) n.816G>C | |
17 | g.39872488G>T | CA399280377 | ZPBP2 | c.625G>T (p.Val209Phe) c.559G>T (p.Val187Phe) c.271G>T (p.Val91Phe) c.407-556G>T (n.407-556G>T) n.816G>T | |
17 | g.39872488_39872489del | CA2637649655 | ZPBP2 | c.625_625+1del c.559_559+1del c.271_271+1del c.407-556_407-555del (n.407-556_407-555del) n.816_816+1del | gnomAD v4 |
17 | g.39872489G>A | CA399280388 | ZPBP2 | c.625+1G>A (n.625+1G>A) c.559+1G>A (n.559+1G>A) c.271+1G>A (n.271+1G>A) c.407-555G>A (n.407-555G>A) n.816+1G>A | |
17 | g.39872489G>C | CA399280392 | ZPBP2 | c.625+1G>C (n.625+1G>C) c.559+1G>C (n.559+1G>C) c.271+1G>C (n.271+1G>C) c.407-555G>C (n.407-555G>C) n.816+1G>C | |
17 | g.39872489G= | CA2259290931 | ZPBP2 | c.625+1G= (n.625+1G=) c.559+1G= (n.559+1G=) c.271+1G= (n.271+1G=) c.407-555G= (n.407-555G=) n.816+1G= | |
17 | g.39872489G>T | CA399280393 | ZPBP2 | c.625+1G>T (n.625+1G>T) c.559+1G>T (n.559+1G>T) c.271+1G>T (n.271+1G>T) c.407-555G>T (n.407-555G>T) n.816+1G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872490T>A | CA399280396 | ZPBP2 | c.625+2T>A (n.625+2T>A) c.559+2T>A (n.559+2T>A) c.271+2T>A (n.271+2T>A) c.407-554T>A (n.407-554T>A) n.816+2T>A | |
17 | g.39872490T>C | CA399280399 | ZPBP2 | c.625+2T>C (n.625+2T>C) c.559+2T>C (n.559+2T>C) c.271+2T>C (n.271+2T>C) c.407-554T>C (n.407-554T>C) n.816+2T>C | |
17 | g.39872490T>G | CA399280400 | ZPBP2 | c.625+2T>G (n.625+2T>G) c.559+2T>G (n.559+2T>G) c.271+2T>G (n.271+2T>G) c.407-554T>G (n.407-554T>G) n.816+2T>G | |
17 | g.39872491A>G | CA2576255764 | ZPBP2 | c.625+3A>G (n.625+3A>G) c.559+3A>G (n.559+3A>G) c.271+3A>G (n.271+3A>G) c.407-553A>G (n.407-553A>G) n.816+3A>G | |
17 | g.39872491_39872492insCA | CA2637649657 | ZPBP2 | c.625+3_625+4insCA (n.625+3_625+4insCA) c.559+3_559+4insCA (n.559+3_559+4insCA) c.271+3_271+4insCA (n.271+3_271+4insCA) c.407-553_407-552insCA (n.407-553_407-552insCA) n.816+3_816+4insCA | gnomAD v4 |
17 | g.39872494dup | CA2637649656 | ZPBP2 | c.625+6dup (n.625+6dup) c.559+6dup (n.559+6dup) c.271+6dup (n.271+6dup) c.407-550dup (n.407-550dup) n.816+6dup | gnomAD v4 |
17 | g.39872493_39872494insCAC | CA2552707730 | ZPBP2 | c.625+5_625+6insCAC (n.625+5_625+6insCAC) c.559+5_559+6insCAC (n.559+5_559+6insCAC) c.271+5_271+6insCAC (n.271+5_271+6insCAC) c.407-551_407-550insCAC (n.407-551_407-550insCAC) n.816+5_816+6insCAC | |
17 | g.39872494A>T | CA2637649658 | ZPBP2 | c.625+6A>T (n.625+6A>T) c.559+6A>T (n.559+6A>T) c.271+6A>T (n.271+6A>T) c.407-550A>T (n.407-550A>T) n.816+6A>T | gnomAD v4 |
17 | g.39872495T>G | CA2576255765 | ZPBP2 | c.625+7T>G (n.625+7T>G) c.559+7T>G (n.559+7T>G) c.271+7T>G (n.271+7T>G) c.407-549T>G (n.407-549T>G) n.816+7T>G | |
17 | g.39872498_39872500del | CA2557817760 | ZPBP2 | c.625+10_625+12del (n.625+10_625+12del) c.559+10_559+12del (n.559+10_559+12del) c.271+10_271+12del (n.271+10_271+12del) c.407-546_407-544del (n.407-546_407-544del) n.816+10_816+12del | |
17 | g.39872499T>A | CA625946590 | ZPBP2 | c.625+11T>A (n.625+11T>A) c.559+11T>A (n.559+11T>A) c.271+11T>A (n.271+11T>A) c.407-545T>A (n.407-545T>A) n.816+11T>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872499T= | CA2259290932 | ZPBP2 | c.625+11T= (n.625+11T=) c.559+11T= (n.559+11T=) c.271+11T= (n.271+11T=) c.407-545T= (n.407-545T=) n.816+11T= | |
17 | g.39872500A= | CA2259290933 | ZPBP2 | c.625+12A= (n.625+12A=) c.559+12A= (n.559+12A=) c.271+12A= (n.271+12A=) c.407-544A= (n.407-544A=) n.816+12A= | |
17 | g.39872500A>G | CA8535987 | ZPBP2 | c.625+12A>G (n.625+12A>G) c.559+12A>G (n.559+12A>G) c.271+12A>G (n.271+12A>G) c.407-544A>G (n.407-544A>G) n.816+12A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872500A>T | CA625946591 | ZPBP2 | c.625+12A>T (n.625+12A>T) c.559+12A>T (n.559+12A>T) c.271+12A>T (n.271+12A>T) c.407-544A>T (n.407-544A>T) n.816+12A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872503_39872507delinsATTTC | CA2259290934 | ZPBP2 | c.625+15_625+19delinsATTTC (n.625+15_625+19delinsATTTC) c.559+15_559+19delinsATTTC (n.559+15_559+19delinsATTTC) c.271+15_271+19delinsATTTC (n.271+15_271+19delinsATTTC) c.407-541_407-537delinsATTTC (n.407-541_407-537delinsATTTC) n.816+15_816+19delinsATTTC | |
17 | g.39872504T>A | CA2637649659 | ZPBP2 | c.625+16T>A (n.625+16T>A) c.559+16T>A (n.559+16T>A) c.271+16T>A (n.271+16T>A) c.407-540T>A (n.407-540T>A) n.816+16T>A | gnomAD v4 |
17 | g.39872507_39872510del | CA625946592 | ZPBP2 | c.625+19_625+22del (n.625+19_625+22del) c.559+19_559+22del (n.559+19_559+22del) c.271+19_271+22del (n.271+19_271+22del) c.407-537_407-534del (n.407-537_407-534del) n.816+19_816+22del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872506_39872510del | CA2576255766 | ZPBP2 | c.625+18_625+22del (n.625+18_625+22del) c.559+18_559+22del (n.559+18_559+22del) c.271+18_271+22del (n.271+18_271+22del) c.407-538_407-534del (n.407-538_407-534del) n.816+18_816+22del | gnomAD v4 |
17 | g.39872507C>A | CA2259290936 | ZPBP2 | c.625+19C>A (n.625+19C>A) c.559+19C>A (n.559+19C>A) c.271+19C>A (n.271+19C>A) c.407-537C>A (n.407-537C>A) n.816+19C>A | dbSNP gnomAD v4 |
17 | g.39872507C= | CA2259290935 | ZPBP2 | c.625+19C= (n.625+19C=) c.559+19C= (n.559+19C=) c.271+19C= (n.271+19C=) c.407-537C= (n.407-537C=) n.816+19C= | |
17 | g.39872508T>G | CA290455985 | ZPBP2 | c.625+20T>G (n.625+20T>G) c.559+20T>G (n.559+20T>G) c.271+20T>G (n.271+20T>G) c.407-536T>G (n.407-536T>G) n.816+20T>G | dbSNP gnomAD v4 |
17 | g.39872508T= | CA2259290937 | ZPBP2 | c.625+20T= (n.625+20T=) c.559+20T= (n.559+20T=) c.271+20T= (n.271+20T=) c.407-536T= (n.407-536T=) n.816+20T= | |
17 | g.39872509T>G | CA2637649660 | ZPBP2 | c.625+21T>G (n.625+21T>G) c.559+21T>G (n.559+21T>G) c.271+21T>G (n.271+21T>G) c.407-535T>G (n.407-535T>G) n.816+21T>G | gnomAD v4 |
17 | g.39872510T>A | CA2809447763 | ZPBP2 | c.625+22T>A (n.625+22T>A) c.559+22T>A (n.559+22T>A) c.271+22T>A (n.271+22T>A) c.407-534T>A (n.407-534T>A) n.816+22T>A | |
17 | g.39872511A>G | CA2809447764 | ZPBP2 | c.625+23A>G (n.625+23A>G) c.559+23A>G (n.559+23A>G) c.271+23A>G (n.271+23A>G) c.407-533A>G (n.407-533A>G) n.816+23A>G | |
17 | g.39872513T>C | CA2809447765 | ZPBP2 | c.625+25T>C (n.625+25T>C) c.559+25T>C (n.559+25T>C) c.271+25T>C (n.271+25T>C) c.407-531T>C (n.407-531T>C) n.816+25T>C | |
17 | g.39872517G>C | CA8535988 | ZPBP2 | c.625+29G>C (n.625+29G>C) c.559+29G>C (n.559+29G>C) c.271+29G>C (n.271+29G>C) c.407-527G>C (n.407-527G>C) n.816+29G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872517G= | CA2259290938 | ZPBP2 | c.625+29G= (n.625+29G=) c.559+29G= (n.559+29G=) c.271+29G= (n.271+29G=) c.407-527G= (n.407-527G=) n.816+29G= | |
17 | g.39872517G>T | CA2637649661 | ZPBP2 | c.625+29G>T (n.625+29G>T) c.559+29G>T (n.559+29G>T) c.271+29G>T (n.271+29G>T) c.407-527G>T (n.407-527G>T) n.816+29G>T | gnomAD v4 |
17 | g.39872518A= | CA2259290939 | ZPBP2 | c.625+30A= (n.625+30A=) c.559+30A= (n.559+30A=) c.271+30A= (n.271+30A=) c.407-526A= (n.407-526A=) n.816+30A= | |
17 | g.39872518A>C | CA2637649662 | ZPBP2 | c.625+30A>C (n.625+30A>C) c.559+30A>C (n.559+30A>C) c.271+30A>C (n.271+30A>C) c.407-526A>C (n.407-526A>C) n.816+30A>C | gnomAD v4 |
17 | g.39872518A>G | CA625946593 | ZPBP2 | c.625+30A>G (n.625+30A>G) c.559+30A>G (n.559+30A>G) c.271+30A>G (n.271+30A>G) c.407-526A>G (n.407-526A>G) n.816+30A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872518A>T | CA2637649663 | ZPBP2 | c.625+30A>T (n.625+30A>T) c.559+30A>T (n.559+30A>T) c.271+30A>T (n.271+30A>T) c.407-526A>T (n.407-526A>T) n.816+30A>T | gnomAD v4 |
17 | g.39872519A= | CA2259290940 | ZPBP2 | c.625+31A= (n.625+31A=) c.559+31A= (n.559+31A=) c.271+31A= (n.271+31A=) c.407-525A= (n.407-525A=) n.816+31A= | |
17 | g.39872519A>C | CA8535989 | ZPBP2 | c.625+31A>C (n.625+31A>C) c.559+31A>C (n.559+31A>C) c.271+31A>C (n.271+31A>C) c.407-525A>C (n.407-525A>C) n.816+31A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872520T>G | CA771906509 | ZPBP2 | c.625+32T>G (n.625+32T>G) c.559+32T>G (n.559+32T>G) c.271+32T>G (n.271+32T>G) c.407-524T>G (n.407-524T>G) n.816+32T>G | dbSNP |
17 | g.39872520T= | CA2259290941 | ZPBP2 | c.625+32T= (n.625+32T=) c.559+32T= (n.559+32T=) c.271+32T= (n.271+32T=) c.407-524T= (n.407-524T=) n.816+32T= | |
17 | g.39872522del | CA2637649664 | ZPBP2 | c.625+34del (n.625+34del) c.559+34del (n.559+34del) c.271+34del (n.271+34del) c.407-522del (n.407-522del) n.816+34del | gnomAD v4 |
17 | g.39872521T>C | CA2637649665 | ZPBP2 | c.625+33T>C (n.625+33T>C) c.559+33T>C (n.559+33T>C) c.271+33T>C (n.271+33T>C) c.407-523T>C (n.407-523T>C) n.816+33T>C | gnomAD v4 |
17 | g.39872521T>G | CA2637649666 | ZPBP2 | c.625+33T>G (n.625+33T>G) c.559+33T>G (n.559+33T>G) c.271+33T>G (n.271+33T>G) c.407-523T>G (n.407-523T>G) n.816+33T>G | gnomAD v4 |
17 | g.39872523A= | CA2259290942 | ZPBP2 | c.625+35A= (n.625+35A=) c.559+35A= (n.559+35A=) c.271+35A= (n.271+35A=) c.407-521A= (n.407-521A=) n.816+35A= | |
17 | g.39872523A>G | CA625946594 | ZPBP2 | c.625+35A>G (n.625+35A>G) c.559+35A>G (n.559+35A>G) c.271+35A>G (n.271+35A>G) c.407-521A>G (n.407-521A>G) n.816+35A>G | dbSNP gnomAD v2 gnomAD v4 |