Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.106099336G>A | CA161620 | ATG5,PRDM1 | c.448G>A (p.Gly150Ser) c.458-21021C>T (n.458-21021C>T) c.458-52511C>T (n.458-52511C>T) c.490G>A (p.Gly164Ser) c.340G>A (p.Gly114Ser) c.46G>A (p.Gly16Ser) c.85G>A (p.Gly29Ser) n.207G>A c.-27G>A (n.-27G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.106099336G>C | CA365146628 | ATG5,PRDM1 | c.448G>C (p.Gly150Arg) c.458-21021C>G (n.458-21021C>G) c.458-52511C>G (n.458-52511C>G) c.490G>C (p.Gly164Arg) c.340G>C (p.Gly114Arg) c.46G>C (p.Gly16Arg) c.85G>C (p.Gly29Arg) n.207G>C c.-27G>C (n.-27G>C) | |
6 | g.106099336G= | CA1653274625 | ATG5,PRDM1 | c.448G= (p.Gly150=) c.458-21021C= (n.458-21021C=) c.458-52511C= (n.458-52511C=) c.490G= (p.Gly164=) c.340G= (p.Gly114=) c.46G= (p.Gly16=) c.85G= (p.Gly29=) n.207G= c.-27G= (n.-27G=) | |
6 | g.106099336G>T | CA365146629 | ATG5,PRDM1 | c.448G>T (p.Gly150Cys) c.458-21021C>A (n.458-21021C>A) c.458-52511C>A (n.458-52511C>A) c.490G>T (p.Gly164Cys) c.340G>T (p.Gly114Cys) c.46G>T (p.Gly16Cys) c.85G>T (p.Gly29Cys) n.207G>T c.-27G>T (n.-27G>T) | |
6 | g.106099337G>A | CA365146630 | ATG5,PRDM1 | c.449G>A (p.Gly150Asp) c.458-21022C>T (n.458-21022C>T) c.458-52512C>T (n.458-52512C>T) c.491G>A (p.Gly164Asp) c.341G>A (p.Gly114Asp) c.47G>A (p.Gly16Asp) c.86G>A (p.Gly29Asp) n.208G>A c.-26G>A (n.-26G>A) | dbSNP |
6 | g.106099337G>C | CA365146631 | ATG5,PRDM1 | c.449G>C (p.Gly150Ala) c.458-21022C>G (n.458-21022C>G) c.458-52512C>G (n.458-52512C>G) c.491G>C (p.Gly164Ala) c.341G>C (p.Gly114Ala) c.47G>C (p.Gly16Ala) c.86G>C (p.Gly29Ala) n.208G>C c.-26G>C (n.-26G>C) | |
6 | g.106099337G>T | CA365146632 | ATG5,PRDM1 | c.449G>T (p.Gly150Val) c.458-21022C>A (n.458-21022C>A) c.458-52512C>A (n.458-52512C>A) c.491G>T (p.Gly164Val) c.341G>T (p.Gly114Val) c.47G>T (p.Gly16Val) c.86G>T (p.Gly29Val) n.208G>T c.-26G>T (n.-26G>T) | |
6 | g.106099338C>A | CA451576304 | ATG5,PRDM1 | c.450C>A (p.Gly150=) c.458-21023G>T (n.458-21023G>T) c.458-52513G>T (n.458-52513G>T) c.492C>A (p.Gly164=) c.342C>A (p.Gly114=) c.48C>A (p.Gly16=) c.87C>A (p.Gly29=) n.209C>A c.-25C>A (n.-25C>A) | |
6 | g.106099338C>G | CA451576305 | ATG5,PRDM1 | c.450C>G (p.Gly150=) c.458-21023G>C (n.458-21023G>C) c.458-52513G>C (n.458-52513G>C) c.492C>G (p.Gly164=) c.342C>G (p.Gly114=) c.48C>G (p.Gly16=) c.87C>G (p.Gly29=) n.209C>G c.-25C>G (n.-25C>G) | dbSNP |
6 | g.106099338C>T | CA451576306 | ATG5,PRDM1 | c.450C>T (p.Gly150=) c.458-21023G>A (n.458-21023G>A) c.458-52513G>A (n.458-52513G>A) c.492C>T (p.Gly164=) c.342C>T (p.Gly114=) c.48C>T (p.Gly16=) c.87C>T (p.Gly29=) n.209C>T c.-25C>T (n.-25C>T) | dbSNP |
6 | g.106099339T>A | CA365146633 | ATG5,PRDM1 | c.451T>A (p.Phe151Ile) c.458-21024A>T (n.458-21024A>T) c.458-52514A>T (n.458-52514A>T) c.493T>A (p.Phe165Ile) c.343T>A (p.Phe115Ile) c.49T>A (p.Phe17Ile) c.88T>A (p.Phe30Ile) n.210T>A c.-24T>A (n.-24T>A) | dbSNP |
6 | g.106099339T>C | CA365146634 | ATG5,PRDM1 | c.451T>C (p.Phe151Leu) c.458-21024A>G (n.458-21024A>G) c.458-52514A>G (n.458-52514A>G) c.493T>C (p.Phe165Leu) c.343T>C (p.Phe115Leu) c.49T>C (p.Phe17Leu) c.88T>C (p.Phe30Leu) n.210T>C c.-24T>C (n.-24T>C) | |
6 | g.106099339T>G | CA365146635 | ATG5,PRDM1 | c.451T>G (p.Phe151Val) c.458-21024A>C (n.458-21024A>C) c.458-52514A>C (n.458-52514A>C) c.493T>G (p.Phe165Val) c.343T>G (p.Phe115Val) c.49T>G (p.Phe17Val) c.88T>G (p.Phe30Val) n.210T>G c.-24T>G (n.-24T>G) | |
6 | g.106099339T= | CA1653274631 | ATG5,PRDM1 | c.451T= (p.Phe151=) c.458-21024A= (n.458-21024A=) c.458-52514A= (n.458-52514A=) c.493T= (p.Phe165=) c.343T= (p.Phe115=) c.49T= (p.Phe17=) c.88T= (p.Phe30=) n.210T= c.-24T= (n.-24T=) | |
6 | g.106099340T>A | CA365146636 | ATG5,PRDM1 | c.452T>A (p.Phe151Tyr) c.458-21025A>T (n.458-21025A>T) c.458-52515A>T (n.458-52515A>T) c.494T>A (p.Phe165Tyr) c.344T>A (p.Phe115Tyr) c.50T>A (p.Phe17Tyr) c.89T>A (p.Phe30Tyr) n.211T>A c.-23T>A (n.-23T>A) | |
6 | g.106099340T>C | CA365146637 | ATG5,PRDM1 | c.452T>C (p.Phe151Ser) c.458-21025A>G (n.458-21025A>G) c.458-52515A>G (n.458-52515A>G) c.494T>C (p.Phe165Ser) c.344T>C (p.Phe115Ser) c.50T>C (p.Phe17Ser) c.89T>C (p.Phe30Ser) n.211T>C c.-23T>C (n.-23T>C) | |
6 | g.106099340T>G | CA365146638 | ATG5,PRDM1 | c.452T>G (p.Phe151Cys) c.458-21025A>C (n.458-21025A>C) c.458-52515A>C (n.458-52515A>C) c.494T>G (p.Phe165Cys) c.344T>G (p.Phe115Cys) c.50T>G (p.Phe17Cys) c.89T>G (p.Phe30Cys) n.211T>G c.-23T>G (n.-23T>G) | |
6 | g.106099341T>A | CA365146639 | ATG5,PRDM1 | c.453T>A (p.Phe151Leu) c.458-21026A>T (n.458-21026A>T) c.458-52516A>T (n.458-52516A>T) c.495T>A (p.Phe165Leu) c.345T>A (p.Phe115Leu) c.51T>A (p.Phe17Leu) c.90T>A (p.Phe30Leu) n.212T>A c.-22T>A (n.-22T>A) | |
6 | g.106099341T>C | CA451576309 | ATG5,PRDM1 | c.453T>C (p.Phe151=) c.458-21026A>G (n.458-21026A>G) c.458-52516A>G (n.458-52516A>G) c.495T>C (p.Phe165=) c.345T>C (p.Phe115=) c.51T>C (p.Phe17=) c.90T>C (p.Phe30=) n.212T>C c.-22T>C (n.-22T>C) | |
6 | g.106099341T>G | CA365146640 | ATG5,PRDM1 | c.453T>G (p.Phe151Leu) c.458-21026A>C (n.458-21026A>C) c.458-52516A>C (n.458-52516A>C) c.495T>G (p.Phe165Leu) c.345T>G (p.Phe115Leu) c.51T>G (p.Phe17Leu) c.90T>G (p.Phe30Leu) n.212T>G c.-22T>G (n.-22T>G) | |
6 | g.106099342A>C | CA365146642 | ATG5,PRDM1 | c.454A>C (p.Asn152His) c.458-21027T>G (n.458-21027T>G) c.458-52517T>G (n.458-52517T>G) c.496A>C (p.Asn166His) c.346A>C (p.Asn116His) c.52A>C (p.Asn18His) c.91A>C (p.Asn31His) n.213A>C c.-21A>C (n.-21A>C) | |
6 | g.106099342A>G | CA365146643 | ATG5,PRDM1 | c.454A>G (p.Asn152Asp) c.458-21027T>C (n.458-21027T>C) c.458-52517T>C (n.458-52517T>C) c.496A>G (p.Asn166Asp) c.346A>G (p.Asn116Asp) c.52A>G (p.Asn18Asp) c.91A>G (p.Asn31Asp) n.213A>G c.-21A>G (n.-21A>G) | |
6 | g.106099342A>T | CA365146641 | ATG5,PRDM1 | c.454A>T (p.Asn152Tyr) c.458-21027T>A (n.458-21027T>A) c.458-52517T>A (n.458-52517T>A) c.496A>T (p.Asn166Tyr) c.346A>T (p.Asn116Tyr) c.52A>T (p.Asn18Tyr) c.91A>T (p.Asn31Tyr) n.213A>T c.-21A>T (n.-21A>T) | dbSNP |
6 | g.106099343A= | CA1653274635 | ATG5,PRDM1 | c.455A= (p.Asn152=) c.458-21028T= (n.458-21028T=) c.458-52518T= (n.458-52518T=) c.497A= (p.Asn166=) c.347A= (p.Asn116=) c.53A= (p.Asn18=) c.92A= (p.Asn31=) n.214A= c.-20A= (n.-20A=) | |
6 | g.106099343A>C | CA365146644 | ATG5,PRDM1 | c.455A>C (p.Asn152Thr) c.458-21028T>G (n.458-21028T>G) c.458-52518T>G (n.458-52518T>G) c.497A>C (p.Asn166Thr) c.347A>C (p.Asn116Thr) c.53A>C (p.Asn18Thr) c.92A>C (p.Asn31Thr) n.214A>C c.-20A>C (n.-20A>C) | |
6 | g.106099343A>G | CA365146645 | ATG5,PRDM1 | c.455A>G (p.Asn152Ser) c.458-21028T>C (n.458-21028T>C) c.458-52518T>C (n.458-52518T>C) c.497A>G (p.Asn166Ser) c.347A>G (p.Asn116Ser) c.53A>G (p.Asn18Ser) c.92A>G (p.Asn31Ser) n.214A>G c.-20A>G (n.-20A>G) | dbSNP |
6 | g.106099343A>T | CA365146646 | ATG5,PRDM1 | c.455A>T (p.Asn152Ile) c.458-21028T>A (n.458-21028T>A) c.458-52518T>A (n.458-52518T>A) c.497A>T (p.Asn166Ile) c.347A>T (p.Asn116Ile) c.53A>T (p.Asn18Ile) c.92A>T (p.Asn31Ile) n.214A>T c.-20A>T (n.-20A>T) | |
6 | g.106099344T>A | CA365146647 | ATG5,PRDM1 | c.456T>A (p.Asn152Lys) c.458-21029A>T (n.458-21029A>T) c.458-52519A>T (n.458-52519A>T) c.498T>A (p.Asn166Lys) c.348T>A (p.Asn116Lys) c.54T>A (p.Asn18Lys) c.93T>A (p.Asn31Lys) n.215T>A c.-19T>A (n.-19T>A) | |
6 | g.106099344T>C | CA451576313 | ATG5,PRDM1 | c.456T>C (p.Asn152=) c.458-21029A>G (n.458-21029A>G) c.458-52519A>G (n.458-52519A>G) c.498T>C (p.Asn166=) c.348T>C (p.Asn116=) c.54T>C (p.Asn18=) c.93T>C (p.Asn31=) n.215T>C c.-19T>C (n.-19T>C) | |
6 | g.106099344T>G | CA365146648 | ATG5,PRDM1 | c.456T>G (p.Asn152Lys) c.458-21029A>C (n.458-21029A>C) c.458-52519A>C (n.458-52519A>C) c.498T>G (p.Asn166Lys) c.348T>G (p.Asn116Lys) c.54T>G (p.Asn18Lys) c.93T>G (p.Asn31Lys) n.215T>G c.-19T>G (n.-19T>G) | |
6 | g.106099345G>A | CA365146649 | ATG5,PRDM1 | c.457G>A (p.Glu153Lys) c.458-21030C>T (n.458-21030C>T) c.458-52520C>T (n.458-52520C>T) c.499G>A (p.Glu167Lys) c.349G>A (p.Glu117Lys) c.55G>A (p.Glu19Lys) c.94G>A (p.Glu32Lys) n.216G>A c.-18G>A (n.-18G>A) | |
6 | g.106099345G>C | CA365146650 | ATG5,PRDM1 | c.457G>C (p.Glu153Gln) c.458-21030C>G (n.458-21030C>G) c.458-52520C>G (n.458-52520C>G) c.499G>C (p.Glu167Gln) c.349G>C (p.Glu117Gln) c.55G>C (p.Glu19Gln) c.94G>C (p.Glu32Gln) n.216G>C c.-18G>C (n.-18G>C) | |
6 | g.106099345G>T | CA365146651 | ATG5,PRDM1 | c.457G>T (p.Glu153Ter) c.458-21030C>A (n.458-21030C>A) c.458-52520C>A (n.458-52520C>A) c.499G>T (p.Glu167Ter) c.349G>T (p.Glu117Ter) c.55G>T (p.Glu19Ter) c.94G>T (p.Glu32Ter) n.216G>T c.-18G>T (n.-18G>T) | |
6 | g.106099346A= | CA1653274639 | ATG5,PRDM1 | c.458A= (p.Glu153=) c.458-21031T= (n.458-21031T=) c.458-52521T= (n.458-52521T=) c.500A= (p.Glu167=) c.350A= (p.Glu117=) c.56A= (p.Glu19=) c.95A= (p.Glu32=) n.217A= c.-17A= (n.-17A=) | |
6 | g.106099346A>C | CA365146652 | ATG5,PRDM1 | c.458A>C (p.Glu153Ala) c.458-21031T>G (n.458-21031T>G) c.458-52521T>G (n.458-52521T>G) c.500A>C (p.Glu167Ala) c.350A>C (p.Glu117Ala) c.56A>C (p.Glu19Ala) c.95A>C (p.Glu32Ala) n.217A>C c.-17A>C (n.-17A>C) | |
6 | g.106099346A>G | CA365146653 | ATG5,PRDM1 | c.458A>G (p.Glu153Gly) c.458-21031T>C (n.458-21031T>C) c.458-52521T>C (n.458-52521T>C) c.500A>G (p.Glu167Gly) c.350A>G (p.Glu117Gly) c.56A>G (p.Glu19Gly) c.95A>G (p.Glu32Gly) n.217A>G c.-17A>G (n.-17A>G) | |
6 | g.106099346A>T | CA3942151 | ATG5,PRDM1 | c.458A>T (p.Glu153Val) c.458-21031T>A (n.458-21031T>A) c.458-52521T>A (n.458-52521T>A) c.500A>T (p.Glu167Val) c.350A>T (p.Glu117Val) c.56A>T (p.Glu19Val) c.95A>T (p.Glu32Val) n.217A>T c.-17A>T (n.-17A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.106099347A>C | CA365146654 | ATG5,PRDM1 | c.459A>C (p.Glu153Asp) c.458-21032T>G (n.458-21032T>G) c.458-52522T>G (n.458-52522T>G) c.501A>C (p.Glu167Asp) c.351A>C (p.Glu117Asp) c.57A>C (p.Glu19Asp) c.96A>C (p.Glu32Asp) n.218A>C c.-16A>C (n.-16A>C) | |
6 | g.106099347A>G | CA451576316 | ATG5,PRDM1 | c.459A>G (p.Glu153=) c.458-21032T>C (n.458-21032T>C) c.458-52522T>C (n.458-52522T>C) c.501A>G (p.Glu167=) c.351A>G (p.Glu117=) c.57A>G (p.Glu19=) c.96A>G (p.Glu32=) n.218A>G c.-16A>G (n.-16A>G) | |
6 | g.106099347A>T | CA365146655 | ATG5,PRDM1 | c.459A>T (p.Glu153Asp) c.458-21032T>A (n.458-21032T>A) c.458-52522T>A (n.458-52522T>A) c.501A>T (p.Glu167Asp) c.351A>T (p.Glu117Asp) c.57A>T (p.Glu19Asp) c.96A>T (p.Glu32Asp) n.218A>T c.-16A>T (n.-16A>T) | |
6 | g.106099348G>A | CA365146658 | ATG5,PRDM1 | c.460G>A (p.Glu154Lys) c.458-21033C>T (n.458-21033C>T) c.458-52523C>T (n.458-52523C>T) c.502G>A (p.Glu168Lys) c.352G>A (p.Glu118Lys) c.58G>A (p.Glu20Lys) c.97G>A (p.Glu33Lys) n.219G>A c.-15G>A (n.-15G>A) | |
6 | g.106099348G>C | CA365146656 | ATG5,PRDM1 | c.460G>C (p.Glu154Gln) c.458-21033C>G (n.458-21033C>G) c.458-52523C>G (n.458-52523C>G) c.502G>C (p.Glu168Gln) c.352G>C (p.Glu118Gln) c.58G>C (p.Glu20Gln) c.97G>C (p.Glu33Gln) n.219G>C c.-15G>C (n.-15G>C) | dbSNP |
6 | g.106099348G>T | CA365146657 | ATG5,PRDM1 | c.460G>T (p.Glu154Ter) c.458-21033C>A (n.458-21033C>A) c.458-52523C>A (n.458-52523C>A) c.502G>T (p.Glu168Ter) c.352G>T (p.Glu118Ter) c.58G>T (p.Glu20Ter) c.97G>T (p.Glu33Ter) n.219G>T c.-15G>T (n.-15G>T) | |
6 | g.106099349A>C | CA365146659 | ATG5,PRDM1 | c.461A>C (p.Glu154Ala) c.458-21034T>G (n.458-21034T>G) c.458-52524T>G (n.458-52524T>G) c.503A>C (p.Glu168Ala) c.353A>C (p.Glu118Ala) c.59A>C (p.Glu20Ala) c.98A>C (p.Glu33Ala) n.220A>C c.-14A>C (n.-14A>C) | gnomAD v4 |
6 | g.106099349A>G | CA365146660 | ATG5,PRDM1 | c.461A>G (p.Glu154Gly) c.458-21034T>C (n.458-21034T>C) c.458-52524T>C (n.458-52524T>C) c.503A>G (p.Glu168Gly) c.353A>G (p.Glu118Gly) c.59A>G (p.Glu20Gly) c.98A>G (p.Glu33Gly) n.220A>G c.-14A>G (n.-14A>G) | COSMIC COSMIC |
6 | g.106099349A>T | CA365146661 | ATG5,PRDM1 | c.461A>T (p.Glu154Val) c.458-21034T>A (n.458-21034T>A) c.458-52524T>A (n.458-52524T>A) c.503A>T (p.Glu168Val) c.353A>T (p.Glu118Val) c.59A>T (p.Glu20Val) c.98A>T (p.Glu33Val) n.220A>T c.-14A>T (n.-14A>T) | gnomAD v4 |
6 | g.106099350G>A | CA451576320 | ATG5,PRDM1 | c.462G>A (p.Glu154=) c.458-21035C>T (n.458-21035C>T) c.458-52525C>T (n.458-52525C>T) c.504G>A (p.Glu168=) c.354G>A (p.Glu118=) c.60G>A (p.Glu20=) c.99G>A (p.Glu33=) n.221G>A c.-13G>A (n.-13G>A) | dbSNP |
6 | g.106099350G>C | CA365146662 | ATG5,PRDM1 | c.462G>C (p.Glu154Asp) c.458-21035C>G (n.458-21035C>G) c.458-52525C>G (n.458-52525C>G) c.504G>C (p.Glu168Asp) c.354G>C (p.Glu118Asp) c.60G>C (p.Glu20Asp) c.99G>C (p.Glu33Asp) n.221G>C c.-13G>C (n.-13G>C) | |
6 | g.106099350G>T | CA365146663 | ATG5,PRDM1 | c.462G>T (p.Glu154Asp) c.458-21035C>A (n.458-21035C>A) c.458-52525C>A (n.458-52525C>A) c.504G>T (p.Glu168Asp) c.354G>T (p.Glu118Asp) c.60G>T (p.Glu20Asp) c.99G>T (p.Glu33Asp) n.221G>T c.-13G>T (n.-13G>T) | |
6 | g.106099351A>C | CA365146664 | ATG5,PRDM1 | c.463A>C (p.Lys155Gln) c.458-21036T>G (n.458-21036T>G) c.458-52526T>G (n.458-52526T>G) c.505A>C (p.Lys169Gln) c.355A>C (p.Lys119Gln) c.61A>C (p.Lys21Gln) c.100A>C (p.Lys34Gln) n.222A>C c.-12A>C (n.-12A>C) | |
6 | g.106099351A>G | CA365146665 | ATG5,PRDM1 | c.463A>G (p.Lys155Glu) c.458-21036T>C (n.458-21036T>C) c.458-52526T>C (n.458-52526T>C) c.505A>G (p.Lys169Glu) c.355A>G (p.Lys119Glu) c.61A>G (p.Lys21Glu) c.100A>G (p.Lys34Glu) n.222A>G c.-12A>G (n.-12A>G) | |
6 | g.106099351A>T | CA365146666 | ATG5,PRDM1 | c.463A>T (p.Lys155Ter) c.458-21036T>A (n.458-21036T>A) c.458-52526T>A (n.458-52526T>A) c.505A>T (p.Lys169Ter) c.355A>T (p.Lys119Ter) c.61A>T (p.Lys21Ter) c.100A>T (p.Lys34Ter) n.222A>T c.-12A>T (n.-12A>T) | |
6 | g.106099353_106099354del | CA645550653 | ATG5,PRDM1 | c.465_466del (p.Ser156GlnfsTer?) c.458-21037_458-21036del (n.458-21037_458-21036del) c.458-52527_458-52526del (n.458-52527_458-52526del) c.507_508del (p.Ser170GlnfsTer?) c.357_358del (p.Ser120GlnfsTer?) c.63_64del (p.Ser22GlnfsTer?) c.102_103del (p.Ser35GlnfsTer?) n.224_225del c.-10_-9del (n.-10_-9del) | COSMIC |
6 | g.106099352A>C | CA365146667 | ATG5,PRDM1 | c.464A>C (p.Lys155Thr) c.458-21037T>G (n.458-21037T>G) c.458-52527T>G (n.458-52527T>G) c.506A>C (p.Lys169Thr) c.356A>C (p.Lys119Thr) c.62A>C (p.Lys21Thr) c.101A>C (p.Lys34Thr) n.223A>C c.-11A>C (n.-11A>C) | |
6 | g.106099352A>G | CA365146668 | ATG5,PRDM1 | c.464A>G (p.Lys155Arg) c.458-21037T>C (n.458-21037T>C) c.458-52527T>C (n.458-52527T>C) c.506A>G (p.Lys169Arg) c.356A>G (p.Lys119Arg) c.62A>G (p.Lys21Arg) c.101A>G (p.Lys34Arg) n.223A>G c.-11A>G (n.-11A>G) | |
6 | g.106099352A>T | CA365146669 | ATG5,PRDM1 | c.464A>T (p.Lys155Ile) c.458-21037T>A (n.458-21037T>A) c.458-52527T>A (n.458-52527T>A) c.506A>T (p.Lys169Ile) c.356A>T (p.Lys119Ile) c.62A>T (p.Lys21Ile) c.101A>T (p.Lys34Ile) n.223A>T c.-11A>T (n.-11A>T) | |
6 | g.106099353A= | CA1653274644 | ATG5,PRDM1 | c.465A= (p.Lys155=) c.458-21038T= (n.458-21038T=) c.458-52528T= (n.458-52528T=) c.507A= (p.Lys169=) c.357A= (p.Lys119=) c.63A= (p.Lys21=) c.102A= (p.Lys34=) n.224A= c.-10A= (n.-10A=) | |
6 | g.106099353A>C | CA365146670 | ATG5,PRDM1 | c.465A>C (p.Lys155Asn) c.458-21038T>G (n.458-21038T>G) c.458-52528T>G (n.458-52528T>G) c.507A>C (p.Lys169Asn) c.357A>C (p.Lys119Asn) c.63A>C (p.Lys21Asn) c.102A>C (p.Lys34Asn) n.224A>C c.-10A>C (n.-10A>C) | |
6 | g.106099353A>G | CA3942152 | ATG5,PRDM1 | c.465A>G (p.Lys155=) c.458-21038T>C (n.458-21038T>C) c.458-52528T>C (n.458-52528T>C) c.507A>G (p.Lys169=) c.357A>G (p.Lys119=) c.63A>G (p.Lys21=) c.102A>G (p.Lys34=) n.224A>G c.-10A>G (n.-10A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.106099353A>T | CA365146671 | ATG5,PRDM1 | c.465A>T (p.Lys155Asn) c.458-21038T>A (n.458-21038T>A) c.458-52528T>A (n.458-52528T>A) c.507A>T (p.Lys169Asn) c.357A>T (p.Lys119Asn) c.63A>T (p.Lys21Asn) c.102A>T (p.Lys34Asn) n.224A>T c.-10A>T (n.-10A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.106099354A>C | CA365146672 | ATG5,PRDM1 | c.466A>C (p.Ser156Arg) c.458-21039T>G (n.458-21039T>G) c.458-52529T>G (n.458-52529T>G) c.508A>C (p.Ser170Arg) c.358A>C (p.Ser120Arg) c.64A>C (p.Ser22Arg) c.103A>C (p.Ser35Arg) n.225A>C c.-9A>C (n.-9A>C) | dbSNP |
6 | g.106099354A>G | CA365146674 | ATG5,PRDM1 | c.466A>G (p.Ser156Gly) c.458-21039T>C (n.458-21039T>C) c.458-52529T>C (n.458-52529T>C) c.508A>G (p.Ser170Gly) c.358A>G (p.Ser120Gly) c.64A>G (p.Ser22Gly) c.103A>G (p.Ser35Gly) n.225A>G c.-9A>G (n.-9A>G) | dbSNP |
6 | g.106099354A>T | CA365146673 | ATG5,PRDM1 | c.466A>T (p.Ser156Cys) c.458-21039T>A (n.458-21039T>A) c.458-52529T>A (n.458-52529T>A) c.508A>T (p.Ser170Cys) c.358A>T (p.Ser120Cys) c.64A>T (p.Ser22Cys) c.103A>T (p.Ser35Cys) n.225A>T c.-9A>T (n.-9A>T) | dbSNP |
6 | g.106099355G>A | CA365146675 | ATG5,PRDM1 | c.467G>A (p.Ser156Asn) c.458-21040C>T (n.458-21040C>T) c.458-52530C>T (n.458-52530C>T) c.509G>A (p.Ser170Asn) c.359G>A (p.Ser120Asn) c.65G>A (p.Ser22Asn) c.104G>A (p.Ser35Asn) n.226G>A c.-8G>A (n.-8G>A) | dbSNP |
6 | g.106099355G>C | CA365146676 | ATG5,PRDM1 | c.467G>C (p.Ser156Thr) c.458-21040C>G (n.458-21040C>G) c.458-52530C>G (n.458-52530C>G) c.509G>C (p.Ser170Thr) c.359G>C (p.Ser120Thr) c.65G>C (p.Ser22Thr) c.104G>C (p.Ser35Thr) n.226G>C c.-8G>C (n.-8G>C) | dbSNP |
6 | g.106099355G>T | CA365146677 | ATG5,PRDM1 | c.467G>T (p.Ser156Ile) c.458-21040C>A (n.458-21040C>A) c.458-52530C>A (n.458-52530C>A) c.509G>T (p.Ser170Ile) c.359G>T (p.Ser120Ile) c.65G>T (p.Ser22Ile) c.104G>T (p.Ser35Ile) n.226G>T c.-8G>T (n.-8G>T) | |
6 | g.106099356C>A | CA365146678 | ATG5,PRDM1 | c.468C>A (p.Ser156Arg) c.458-21041G>T (n.458-21041G>T) c.458-52531G>T (n.458-52531G>T) c.510C>A (p.Ser170Arg) c.360C>A (p.Ser120Arg) c.66C>A (p.Ser22Arg) c.105C>A (p.Ser35Arg) n.227C>A c.-7C>A (n.-7C>A) | |
6 | g.106099356C>G | CA365146679 | ATG5,PRDM1 | c.468C>G (p.Ser156Arg) c.458-21041G>C (n.458-21041G>C) c.458-52531G>C (n.458-52531G>C) c.510C>G (p.Ser170Arg) c.360C>G (p.Ser120Arg) c.66C>G (p.Ser22Arg) c.105C>G (p.Ser35Arg) n.227C>G c.-7C>G (n.-7C>G) | |
6 | g.106099356C>T | CA451576323 | ATG5,PRDM1 | c.468C>T (p.Ser156=) c.458-21041G>A (n.458-21041G>A) c.458-52531G>A (n.458-52531G>A) c.510C>T (p.Ser170=) c.360C>T (p.Ser120=) c.66C>T (p.Ser22=) c.105C>T (p.Ser35=) n.227C>T c.-7C>T (n.-7C>T) | dbSNP |
6 | g.106099357A>C | CA365146682 | ATG5,PRDM1 | c.469A>C (p.Asn157His) c.458-21042T>G (n.458-21042T>G) c.458-52532T>G (n.458-52532T>G) c.511A>C (p.Asn171His) c.361A>C (p.Asn121His) c.67A>C (p.Asn23His) c.106A>C (p.Asn36His) n.228A>C c.-6A>C (n.-6A>C) | |
6 | g.106099357A>G | CA365146681 | ATG5,PRDM1 | c.469A>G (p.Asn157Asp) c.458-21042T>C (n.458-21042T>C) c.458-52532T>C (n.458-52532T>C) c.511A>G (p.Asn171Asp) c.361A>G (p.Asn121Asp) c.67A>G (p.Asn23Asp) c.106A>G (p.Asn36Asp) n.228A>G c.-6A>G (n.-6A>G) | |
6 | g.106099357A>T | CA365146680 | ATG5,PRDM1 | c.469A>T (p.Asn157Tyr) c.458-21042T>A (n.458-21042T>A) c.458-52532T>A (n.458-52532T>A) c.511A>T (p.Asn171Tyr) c.361A>T (p.Asn121Tyr) c.67A>T (p.Asn23Tyr) c.106A>T (p.Asn36Tyr) n.228A>T c.-6A>T (n.-6A>T) | |
6 | g.106099358A>C | CA365146683 | ATG5,PRDM1 | c.470A>C (p.Asn157Thr) c.458-21043T>G (n.458-21043T>G) c.458-52533T>G (n.458-52533T>G) c.512A>C (p.Asn171Thr) c.362A>C (p.Asn121Thr) c.68A>C (p.Asn23Thr) c.107A>C (p.Asn36Thr) n.229A>C c.-5A>C (n.-5A>C) | COSMIC COSMIC |
6 | g.106099358A>G | CA365146684 | ATG5,PRDM1 | c.470A>G (p.Asn157Ser) c.458-21043T>C (n.458-21043T>C) c.458-52533T>C (n.458-52533T>C) c.512A>G (p.Asn171Ser) c.362A>G (p.Asn121Ser) c.68A>G (p.Asn23Ser) c.107A>G (p.Asn36Ser) n.229A>G c.-5A>G (n.-5A>G) | gnomAD v4 |
6 | g.106099358A>T | CA365146685 | ATG5,PRDM1 | c.470A>T (p.Asn157Ile) c.458-21043T>A (n.458-21043T>A) c.458-52533T>A (n.458-52533T>A) c.512A>T (p.Asn171Ile) c.362A>T (p.Asn121Ile) c.68A>T (p.Asn23Ile) c.107A>T (p.Asn36Ile) n.229A>T c.-5A>T (n.-5A>T) | |
6 | g.106099359C>A | CA365146686 | ATG5,PRDM1 | c.471C>A (p.Asn157Lys) c.458-21044G>T (n.458-21044G>T) c.458-52534G>T (n.458-52534G>T) c.513C>A (p.Asn171Lys) c.363C>A (p.Asn121Lys) c.69C>A (p.Asn23Lys) c.108C>A (p.Asn36Lys) n.230C>A c.-4C>A (n.-4C>A) | |
6 | g.106099359C= | CA1653274651 | ATG5,PRDM1 | c.471C= (p.Asn157=) c.458-21044G= (n.458-21044G=) c.458-52534G= (n.458-52534G=) c.513C= (p.Asn171=) c.363C= (p.Asn121=) c.69C= (p.Asn23=) c.108C= (p.Asn36=) n.230C= c.-4C= (n.-4C=) | |
6 | g.106099359C>G | CA365146687 | ATG5,PRDM1 | c.471C>G (p.Asn157Lys) c.458-21044G>C (n.458-21044G>C) c.458-52534G>C (n.458-52534G>C) c.513C>G (p.Asn171Lys) c.363C>G (p.Asn121Lys) c.69C>G (p.Asn23Lys) c.108C>G (p.Asn36Lys) n.230C>G c.-4C>G (n.-4C>G) | |
6 | g.106099359C>T | CA3942153 | ATG5,PRDM1 | c.471C>T (p.Asn157=) c.458-21044G>A (n.458-21044G>A) c.458-52534G>A (n.458-52534G>A) c.513C>T (p.Asn171=) c.363C>T (p.Asn121=) c.69C>T (p.Asn23=) c.108C>T (p.Asn36=) n.230C>T c.-4C>T (n.-4C>T) | dbSNP ExAC gnomAD v2 |
6 | g.106099360_106099390del | CA645550654 | ATG5,PRDM1 | c.472_502del (p.Trp158ProfsTer13) c.458-21074_458-21044del (n.458-21074_458-21044del) c.458-52564_458-52534del (n.458-52564_458-52534del) c.514_544del (p.Trp172ProfsTer13) c.364_394del (p.Trp122ProfsTer13) c.70_100del (p.Trp24ProfsTer13) c.109_139del (p.Trp37ProfsTer13) n.231_261del c.-3_28del | COSMIC COSMIC |
6 | g.106099360T>A | CA365146690 | ATG5,PRDM1 | c.472T>A (p.Trp158Arg) c.458-21045A>T (n.458-21045A>T) c.458-52535A>T (n.458-52535A>T) c.514T>A (p.Trp172Arg) c.364T>A (p.Trp122Arg) c.70T>A (p.Trp24Arg) c.109T>A (p.Trp37Arg) n.231T>A c.-3T>A (n.-3T>A) | |
6 | g.106099360T>C | CA365146688 | ATG5,PRDM1 | c.472T>C (p.Trp158Arg) c.458-21045A>G (n.458-21045A>G) c.458-52535A>G (n.458-52535A>G) c.514T>C (p.Trp172Arg) c.364T>C (p.Trp122Arg) c.70T>C (p.Trp24Arg) c.109T>C (p.Trp37Arg) n.231T>C c.-3T>C (n.-3T>C) | gnomAD v4 |
6 | g.106099360T>G | CA365146689 | ATG5,PRDM1 | c.472T>G (p.Trp158Gly) c.458-21045A>C (n.458-21045A>C) c.458-52535A>C (n.458-52535A>C) c.514T>G (p.Trp172Gly) c.364T>G (p.Trp122Gly) c.70T>G (p.Trp24Gly) c.109T>G (p.Trp37Gly) n.231T>G c.-3T>G (n.-3T>G) | |
6 | g.106099361G>A | CA365146691 | ATG5,PRDM1 | c.473G>A (p.Trp158Ter) c.458-21046C>T (n.458-21046C>T) c.458-52536C>T (n.458-52536C>T) c.515G>A (p.Trp172Ter) c.365G>A (p.Trp122Ter) c.71G>A (p.Trp24Ter) c.110G>A (p.Trp37Ter) n.232G>A c.-2G>A (n.-2G>A) | dbSNP |
6 | g.106099361G>C | CA365146692 | ATG5,PRDM1 | c.473G>C (p.Trp158Ser) c.458-21046C>G (n.458-21046C>G) c.458-52536C>G (n.458-52536C>G) c.515G>C (p.Trp172Ser) c.365G>C (p.Trp122Ser) c.71G>C (p.Trp24Ser) c.110G>C (p.Trp37Ser) n.232G>C c.-2G>C (n.-2G>C) | |
6 | g.106099361G>T | CA365146693 | ATG5,PRDM1 | c.473G>T (p.Trp158Leu) c.458-21046C>A (n.458-21046C>A) c.458-52536C>A (n.458-52536C>A) c.515G>T (p.Trp172Leu) c.365G>T (p.Trp122Leu) c.71G>T (p.Trp24Leu) c.110G>T (p.Trp37Leu) n.232G>T c.-2G>T (n.-2G>T) | |
6 | g.106099362G>A | CA365146694 | ATG5,PRDM1 | c.474G>A (p.Trp158Ter) c.458-21047C>T (n.458-21047C>T) c.458-52537C>T (n.458-52537C>T) c.516G>A (p.Trp172Ter) c.366G>A (p.Trp122Ter) c.72G>A (p.Trp24Ter) c.111G>A (p.Trp37Ter) n.233G>A c.-1G>A (n.-1G>A) | |
6 | g.106099362G>C | CA365146695 | ATG5,PRDM1 | c.474G>C (p.Trp158Cys) c.458-21047C>G (n.458-21047C>G) c.458-52537C>G (n.458-52537C>G) c.516G>C (p.Trp172Cys) c.366G>C (p.Trp122Cys) c.72G>C (p.Trp24Cys) c.111G>C (p.Trp37Cys) n.233G>C c.-1G>C (n.-1G>C) | dbSNP |
6 | g.106099362G>T | CA365146696 | ATG5,PRDM1 | c.474G>T (p.Trp158Cys) c.458-21047C>A (n.458-21047C>A) c.458-52537C>A (n.458-52537C>A) c.516G>T (p.Trp172Cys) c.366G>T (p.Trp122Cys) c.72G>T (p.Trp24Cys) c.111G>T (p.Trp37Cys) n.233G>T c.-1G>T (n.-1G>T) | |
6 | g.106099363A>C | CA365146697 | ATG5,PRDM1 | c.475A>C (p.Met159Leu) c.458-21048T>G (n.458-21048T>G) c.458-52538T>G (n.458-52538T>G) c.517A>C (p.Met173Leu) c.367A>C (p.Met123Leu) c.73A>C (p.Met25Leu) c.112A>C (p.Met38Leu) n.234A>C c.1A>C (p.Met1Leu) | |
6 | g.106099363A>G | CA365146698 | ATG5,PRDM1 | c.475A>G (p.Met159Val) c.458-21048T>C (n.458-21048T>C) c.458-52538T>C (n.458-52538T>C) c.517A>G (p.Met173Val) c.367A>G (p.Met123Val) c.73A>G (p.Met25Val) c.112A>G (p.Met38Val) n.234A>G c.1A>G (p.Met1Val) | |
6 | g.106099363A>T | CA365146699 | ATG5,PRDM1 | c.475A>T (p.Met159Leu) c.458-21048T>A (n.458-21048T>A) c.458-52538T>A (n.458-52538T>A) c.517A>T (p.Met173Leu) c.367A>T (p.Met123Leu) c.73A>T (p.Met25Leu) c.112A>T (p.Met38Leu) n.234A>T c.1A>T (p.Met1Leu) | |
6 | g.106099364T>A | CA365146700 | ATG5,PRDM1 | c.476T>A (p.Met159Lys) c.458-21049A>T (n.458-21049A>T) c.458-52539A>T (n.458-52539A>T) c.518T>A (p.Met173Lys) c.368T>A (p.Met123Lys) c.74T>A (p.Met25Lys) c.113T>A (p.Met38Lys) n.235T>A c.2T>A (p.Met1Lys) | |
6 | g.106099364T>C | CA365146701 | ATG5,PRDM1 | c.476T>C (p.Met159Thr) c.458-21049A>G (n.458-21049A>G) c.458-52539A>G (n.458-52539A>G) c.518T>C (p.Met173Thr) c.368T>C (p.Met123Thr) c.74T>C (p.Met25Thr) c.113T>C (p.Met38Thr) n.235T>C c.2T>C (p.Met1Thr) | |
6 | g.106099364T>G | CA365146702 | ATG5,PRDM1 | c.476T>G (p.Met159Arg) c.458-21049A>C (n.458-21049A>C) c.458-52539A>C (n.458-52539A>C) c.518T>G (p.Met173Arg) c.368T>G (p.Met123Arg) c.74T>G (p.Met25Arg) c.113T>G (p.Met38Arg) n.235T>G c.2T>G (p.Met1Arg) | |
6 | g.106099365G>A | CA365146703 | ATG5,PRDM1 | c.477G>A (p.Met159Ile) c.458-21050C>T (n.458-21050C>T) c.458-52540C>T (n.458-52540C>T) c.519G>A (p.Met173Ile) c.369G>A (p.Met123Ile) c.75G>A (p.Met25Ile) c.114G>A (p.Met38Ile) n.236G>A c.3G>A (p.Met1Ile) | |
6 | g.106099365G>C | CA144944197 | ATG5,PRDM1 | c.477G>C (p.Met159Ile) c.458-21050C>G (n.458-21050C>G) c.458-52540C>G (n.458-52540C>G) c.519G>C (p.Met173Ile) c.369G>C (p.Met123Ile) c.75G>C (p.Met25Ile) c.114G>C (p.Met38Ile) n.236G>C c.3G>C (p.Met1Ile) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.106099365G= | CA1653274654 | ATG5,PRDM1 | c.477G= (p.Met159=) c.458-21050C= (n.458-21050C=) c.458-52540C= (n.458-52540C=) c.519G= (p.Met173=) c.369G= (p.Met123=) c.75G= (p.Met25=) c.114G= (p.Met38=) n.236G= c.3G= (p.Met1=) | |
6 | g.106099365G>T | CA365146704 | ATG5,PRDM1 | c.477G>T (p.Met159Ile) c.458-21050C>A (n.458-21050C>A) c.458-52540C>A (n.458-52540C>A) c.519G>T (p.Met173Ile) c.369G>T (p.Met123Ile) c.75G>T (p.Met25Ile) c.114G>T (p.Met38Ile) n.236G>T c.3G>T (p.Met1Ile) | |
6 | g.106099366C>A | CA365146705 | ATG5,PRDM1 | c.478C>A (p.Arg160Ser) c.458-21051G>T (n.458-21051G>T) c.458-52541G>T (n.458-52541G>T) c.520C>A (p.Arg174Ser) c.370C>A (p.Arg124Ser) c.76C>A (p.Arg26Ser) c.115C>A (p.Arg39Ser) n.237C>A c.4C>A (p.Arg2Ser) | dbSNP |
6 | g.106099366C>G | CA365146706 | ATG5,PRDM1 | c.478C>G (p.Arg160Gly) c.458-21051G>C (n.458-21051G>C) c.458-52541G>C (n.458-52541G>C) c.520C>G (p.Arg174Gly) c.370C>G (p.Arg124Gly) c.76C>G (p.Arg26Gly) c.115C>G (p.Arg39Gly) n.237C>G c.4C>G (p.Arg2Gly) | |
6 | g.106099366C>T | CA365146707 | ATG5,PRDM1 | c.478C>T (p.Arg160Cys) c.458-21051G>A (n.458-21051G>A) c.458-52541G>A (n.458-52541G>A) c.520C>T (p.Arg174Cys) c.370C>T (p.Arg124Cys) c.76C>T (p.Arg26Cys) c.115C>T (p.Arg39Cys) n.237C>T c.4C>T (p.Arg2Cys) | dbSNP |
6 | g.106099367G>A | CA365146708 | ATG5,PRDM1 | c.479G>A (p.Arg160His) c.458-21052C>T (n.458-21052C>T) c.458-52542C>T (n.458-52542C>T) c.521G>A (p.Arg174His) c.371G>A (p.Arg124His) c.77G>A (p.Arg26His) c.116G>A (p.Arg39His) n.238G>A c.5G>A (p.Arg2His) | dbSNP |
6 | g.106099367G>C | CA365146709 | ATG5,PRDM1 | c.479G>C (p.Arg160Pro) c.458-21052C>G (n.458-21052C>G) c.458-52542C>G (n.458-52542C>G) c.521G>C (p.Arg174Pro) c.371G>C (p.Arg124Pro) c.77G>C (p.Arg26Pro) c.116G>C (p.Arg39Pro) n.238G>C c.5G>C (p.Arg2Pro) | dbSNP |
6 | g.106099367G= | CA1653274657 | ATG5,PRDM1 | c.479G= (p.Arg160=) c.458-21052C= (n.458-21052C=) c.458-52542C= (n.458-52542C=) c.521G= (p.Arg174=) c.371G= (p.Arg124=) c.77G= (p.Arg26=) c.116G= (p.Arg39=) n.238G= c.5G= (p.Arg2=) | |
6 | g.106099367G>T | CA365146710 | ATG5,PRDM1 | c.479G>T (p.Arg160Leu) c.458-21052C>A (n.458-21052C>A) c.458-52542C>A (n.458-52542C>A) c.521G>T (p.Arg174Leu) c.371G>T (p.Arg124Leu) c.77G>T (p.Arg26Leu) c.116G>T (p.Arg39Leu) n.238G>T c.5G>T (p.Arg2Leu) | COSMIC |
6 | g.106099368C>A | CA451576333 | ATG5,PRDM1 | c.480C>A (p.Arg160=) c.458-21053G>T (n.458-21053G>T) c.458-52543G>T (n.458-52543G>T) c.522C>A (p.Arg174=) c.372C>A (p.Arg124=) c.78C>A (p.Arg26=) c.117C>A (p.Arg39=) n.239C>A c.6C>A (p.Arg2=) | gnomAD v4 |
6 | g.106099368C>G | CA451576331 | ATG5,PRDM1 | c.480C>G (p.Arg160=) c.458-21053G>C (n.458-21053G>C) c.458-52543G>C (n.458-52543G>C) c.522C>G (p.Arg174=) c.372C>G (p.Arg124=) c.78C>G (p.Arg26=) c.117C>G (p.Arg39=) n.239C>G c.6C>G (p.Arg2=) | |
6 | g.106099368C>T | CA451576332 | ATG5,PRDM1 | c.480C>T (p.Arg160=) c.458-21053G>A (n.458-21053G>A) c.458-52543G>A (n.458-52543G>A) c.522C>T (p.Arg174=) c.372C>T (p.Arg124=) c.78C>T (p.Arg26=) c.117C>T (p.Arg39=) n.239C>T c.6C>T (p.Arg2=) | |
6 | g.106099369T>A | CA365146711 | ATG5,PRDM1 | c.481T>A (p.Tyr161Asn) c.458-21054A>T (n.458-21054A>T) c.458-52544A>T (n.458-52544A>T) c.523T>A (p.Tyr175Asn) c.373T>A (p.Tyr125Asn) c.79T>A (p.Tyr27Asn) c.118T>A (p.Tyr40Asn) n.240T>A c.7T>A (p.Tyr3Asn) | |
6 | g.106099369T>C | CA3942154 | ATG5,PRDM1 | c.481T>C (p.Tyr161His) c.458-21054A>G (n.458-21054A>G) c.458-52544A>G (n.458-52544A>G) c.523T>C (p.Tyr175His) c.373T>C (p.Tyr125His) c.79T>C (p.Tyr27His) c.118T>C (p.Tyr40His) n.240T>C c.7T>C (p.Tyr3His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.106099369T>G | CA365146712 | ATG5,PRDM1 | c.481T>G (p.Tyr161Asp) c.458-21054A>C (n.458-21054A>C) c.458-52544A>C (n.458-52544A>C) c.523T>G (p.Tyr175Asp) c.373T>G (p.Tyr125Asp) c.79T>G (p.Tyr27Asp) c.118T>G (p.Tyr40Asp) n.240T>G c.7T>G (p.Tyr3Asp) | |
6 | g.106099369T= | CA1653274661 | ATG5,PRDM1 | c.481T= (p.Tyr161=) c.458-21054A= (n.458-21054A=) c.458-52544A= (n.458-52544A=) c.523T= (p.Tyr175=) c.373T= (p.Tyr125=) c.79T= (p.Tyr27=) c.118T= (p.Tyr40=) n.240T= c.7T= (p.Tyr3=) | |
6 | g.106099370A>C | CA365146713 | ATG5,PRDM1 | c.482A>C (p.Tyr161Ser) c.458-21055T>G (n.458-21055T>G) c.458-52545T>G (n.458-52545T>G) c.524A>C (p.Tyr175Ser) c.374A>C (p.Tyr125Ser) c.80A>C (p.Tyr27Ser) c.119A>C (p.Tyr40Ser) n.241A>C c.8A>C (p.Tyr3Ser) | gnomAD v4 |
6 | g.106099370A>G | CA365146714 | ATG5,PRDM1 | c.482A>G (p.Tyr161Cys) c.458-21055T>C (n.458-21055T>C) c.458-52545T>C (n.458-52545T>C) c.524A>G (p.Tyr175Cys) c.374A>G (p.Tyr125Cys) c.80A>G (p.Tyr27Cys) c.119A>G (p.Tyr40Cys) n.241A>G c.8A>G (p.Tyr3Cys) | gnomAD v4 |
6 | g.106099370A>T | CA365146715 | ATG5,PRDM1 | c.482A>T (p.Tyr161Phe) c.458-21055T>A (n.458-21055T>A) c.458-52545T>A (n.458-52545T>A) c.524A>T (p.Tyr175Phe) c.374A>T (p.Tyr125Phe) c.80A>T (p.Tyr27Phe) c.119A>T (p.Tyr40Phe) n.241A>T c.8A>T (p.Tyr3Phe) | gnomAD v4 |
6 | g.106099371T>A | CA365146717 | ATG5,PRDM1 | c.483T>A (p.Tyr161Ter) c.458-21056A>T (n.458-21056A>T) c.458-52546A>T (n.458-52546A>T) c.525T>A (p.Tyr175Ter) c.375T>A (p.Tyr125Ter) c.81T>A (p.Tyr27Ter) c.120T>A (p.Tyr40Ter) n.242T>A c.9T>A (p.Tyr3Ter) | |
6 | g.106099371T>C | CA451576337 | ATG5,PRDM1 | c.483T>C (p.Tyr161=) c.458-21056A>G (n.458-21056A>G) c.458-52546A>G (n.458-52546A>G) c.525T>C (p.Tyr175=) c.375T>C (p.Tyr125=) c.81T>C (p.Tyr27=) c.120T>C (p.Tyr40=) n.242T>C c.9T>C (p.Tyr3=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.106099371T>G | CA365146716 | ATG5,PRDM1 | c.483T>G (p.Tyr161Ter) c.458-21056A>C (n.458-21056A>C) c.458-52546A>C (n.458-52546A>C) c.525T>G (p.Tyr175Ter) c.375T>G (p.Tyr125Ter) c.81T>G (p.Tyr27Ter) c.120T>G (p.Tyr40Ter) n.242T>G c.9T>G (p.Tyr3Ter) | |
6 | g.106099371T= | CA1653274666 | ATG5,PRDM1 | c.483T= (p.Tyr161=) c.458-21056A= (n.458-21056A=) c.458-52546A= (n.458-52546A=) c.525T= (p.Tyr175=) c.375T= (p.Tyr125=) c.81T= (p.Tyr27=) c.120T= (p.Tyr40=) n.242T= c.9T= (p.Tyr3=) | |
6 | g.106099372G>A | CA365146718 | ATG5,PRDM1 | c.484G>A (p.Val162Met) c.458-21057C>T (n.458-21057C>T) c.458-52547C>T (n.458-52547C>T) c.526G>A (p.Val176Met) c.376G>A (p.Val126Met) c.82G>A (p.Val28Met) c.121G>A (p.Val41Met) n.243G>A c.10G>A (p.Val4Met) | |
6 | g.106099372G>C | CA365146719 | ATG5,PRDM1 | c.484G>C (p.Val162Leu) c.458-21057C>G (n.458-21057C>G) c.458-52547C>G (n.458-52547C>G) c.526G>C (p.Val176Leu) c.376G>C (p.Val126Leu) c.82G>C (p.Val28Leu) c.121G>C (p.Val41Leu) n.243G>C c.10G>C (p.Val4Leu) | |
6 | g.106099372G>T | CA365146720 | ATG5,PRDM1 | c.484G>T (p.Val162Leu) c.458-21057C>A (n.458-21057C>A) c.458-52547C>A (n.458-52547C>A) c.526G>T (p.Val176Leu) c.376G>T (p.Val126Leu) c.82G>T (p.Val28Leu) c.121G>T (p.Val41Leu) n.243G>T c.10G>T (p.Val4Leu) | |
6 | g.106099373T>A | CA365146721 | ATG5,PRDM1 | c.485T>A (p.Val162Glu) c.458-21058A>T (n.458-21058A>T) c.458-52548A>T (n.458-52548A>T) c.527T>A (p.Val176Glu) c.377T>A (p.Val126Glu) c.83T>A (p.Val28Glu) c.122T>A (p.Val41Glu) n.244T>A c.11T>A (p.Val4Glu) | |
6 | g.106099373T>C | CA365146722 | ATG5,PRDM1 | c.485T>C (p.Val162Ala) c.458-21058A>G (n.458-21058A>G) c.458-52548A>G (n.458-52548A>G) c.527T>C (p.Val176Ala) c.377T>C (p.Val126Ala) c.83T>C (p.Val28Ala) c.122T>C (p.Val41Ala) n.244T>C c.11T>C (p.Val4Ala) | |
6 | g.106099373T>G | CA365146723 | ATG5,PRDM1 | c.485T>G (p.Val162Gly) c.458-21058A>C (n.458-21058A>C) c.458-52548A>C (n.458-52548A>C) c.527T>G (p.Val176Gly) c.377T>G (p.Val126Gly) c.83T>G (p.Val28Gly) c.122T>G (p.Val41Gly) n.244T>G c.11T>G (p.Val4Gly) | |
6 | g.106099374G>A | CA451576340 | ATG5,PRDM1 | c.486G>A (p.Val162=) c.458-21059C>T (n.458-21059C>T) c.458-52549C>T (n.458-52549C>T) c.528G>A (p.Val176=) c.378G>A (p.Val126=) c.84G>A (p.Val28=) c.123G>A (p.Val41=) n.245G>A c.12G>A (p.Val4=) | |
6 | g.106099374G>C | CA451576341 | ATG5,PRDM1 | c.486G>C (p.Val162=) c.458-21059C>G (n.458-21059C>G) c.458-52549C>G (n.458-52549C>G) c.528G>C (p.Val176=) c.378G>C (p.Val126=) c.84G>C (p.Val28=) c.123G>C (p.Val41=) n.245G>C c.12G>C (p.Val4=) | |
6 | g.106099374G>T | CA451576342 | ATG5,PRDM1 | c.486G>T (p.Val162=) c.458-21059C>A (n.458-21059C>A) c.458-52549C>A (n.458-52549C>A) c.528G>T (p.Val176=) c.378G>T (p.Val126=) c.84G>T (p.Val28=) c.123G>T (p.Val41=) n.245G>T c.12G>T (p.Val4=) | |
6 | g.106099375A>C | CA365146724 | ATG5,PRDM1 | c.487A>C (p.Asn163His) c.458-21060T>G (n.458-21060T>G) c.458-52550T>G (n.458-52550T>G) c.529A>C (p.Asn177His) c.379A>C (p.Asn127His) c.85A>C (p.Asn29His) c.124A>C (p.Asn42His) n.246A>C c.13A>C (p.Asn5His) | |
6 | g.106099375A>G | CA365146725 | ATG5,PRDM1 | c.487A>G (p.Asn163Asp) c.458-21060T>C (n.458-21060T>C) c.458-52550T>C (n.458-52550T>C) c.529A>G (p.Asn177Asp) c.379A>G (p.Asn127Asp) c.85A>G (p.Asn29Asp) c.124A>G (p.Asn42Asp) n.246A>G c.13A>G (p.Asn5Asp) | |
6 | g.106099375A>T | CA365146726 | ATG5,PRDM1 | c.487A>T (p.Asn163Tyr) c.458-21060T>A (n.458-21060T>A) c.458-52550T>A (n.458-52550T>A) c.529A>T (p.Asn177Tyr) c.379A>T (p.Asn127Tyr) c.85A>T (p.Asn29Tyr) c.124A>T (p.Asn42Tyr) n.246A>T c.13A>T (p.Asn5Tyr) | |
6 | g.106099376A>C | CA365146727 | ATG5,PRDM1 | c.488A>C (p.Asn163Thr) c.458-21061T>G (n.458-21061T>G) c.458-52551T>G (n.458-52551T>G) c.530A>C (p.Asn177Thr) c.380A>C (p.Asn127Thr) c.86A>C (p.Asn29Thr) c.125A>C (p.Asn42Thr) n.247A>C c.14A>C (p.Asn5Thr) | |
6 | g.106099376A>G | CA365146728 | ATG5,PRDM1 | c.488A>G (p.Asn163Ser) c.458-21061T>C (n.458-21061T>C) c.458-52551T>C (n.458-52551T>C) c.530A>G (p.Asn177Ser) c.380A>G (p.Asn127Ser) c.86A>G (p.Asn29Ser) c.125A>G (p.Asn42Ser) n.247A>G c.14A>G (p.Asn5Ser) | |
6 | g.106099376A>T | CA365146729 | ATG5,PRDM1 | c.488A>T (p.Asn163Ile) c.458-21061T>A (n.458-21061T>A) c.458-52551T>A (n.458-52551T>A) c.530A>T (p.Asn177Ile) c.380A>T (p.Asn127Ile) c.86A>T (p.Asn29Ile) c.125A>T (p.Asn42Ile) n.247A>T c.14A>T (p.Asn5Ile) | |
6 | g.106099377T>A | CA3942155 | ATG5,PRDM1 | c.489T>A (p.Asn163Lys) c.458-21062A>T (n.458-21062A>T) c.458-52552A>T (n.458-52552A>T) c.531T>A (p.Asn177Lys) c.381T>A (p.Asn127Lys) c.87T>A (p.Asn29Lys) c.126T>A (p.Asn42Lys) n.248T>A c.15T>A (p.Asn5Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.106099377T>C | CA451576344 | ATG5,PRDM1 | c.489T>C (p.Asn163=) c.458-21062A>G (n.458-21062A>G) c.458-52552A>G (n.458-52552A>G) c.531T>C (p.Asn177=) c.381T>C (p.Asn127=) c.87T>C (p.Asn29=) c.126T>C (p.Asn42=) n.248T>C c.15T>C (p.Asn5=) | gnomAD v4 |
6 | g.106099377T>G | CA365146730 | ATG5,PRDM1 | c.489T>G (p.Asn163Lys) c.458-21062A>C (n.458-21062A>C) c.458-52552A>C (n.458-52552A>C) c.531T>G (p.Asn177Lys) c.381T>G (p.Asn127Lys) c.87T>G (p.Asn29Lys) c.126T>G (p.Asn42Lys) n.248T>G c.15T>G (p.Asn5Lys) | |
6 | g.106099377T= | CA1653274668 | ATG5,PRDM1 | c.489T= (p.Asn163=) c.458-21062A= (n.458-21062A=) c.458-52552A= (n.458-52552A=) c.531T= (p.Asn177=) c.381T= (p.Asn127=) c.87T= (p.Asn29=) c.126T= (p.Asn42=) n.248T= c.15T= (p.Asn5=) | |
6 | g.106099378C>A | CA365146731 | ATG5,PRDM1 | c.490C>A (p.Pro164Thr) c.458-21063G>T (n.458-21063G>T) c.458-52553G>T (n.458-52553G>T) c.532C>A (p.Pro178Thr) c.382C>A (p.Pro128Thr) c.88C>A (p.Pro30Thr) c.127C>A (p.Pro43Thr) n.249C>A c.16C>A (p.Pro6Thr) | |
6 | g.106099378C>G | CA365146732 | ATG5,PRDM1 | c.490C>G (p.Pro164Ala) c.458-21063G>C (n.458-21063G>C) c.458-52553G>C (n.458-52553G>C) c.532C>G (p.Pro178Ala) c.382C>G (p.Pro128Ala) c.88C>G (p.Pro30Ala) c.127C>G (p.Pro43Ala) n.249C>G c.16C>G (p.Pro6Ala) | |
6 | g.106099378C>T | CA365146733 | ATG5,PRDM1 | c.490C>T (p.Pro164Ser) c.458-21063G>A (n.458-21063G>A) c.458-52553G>A (n.458-52553G>A) c.532C>T (p.Pro178Ser) c.382C>T (p.Pro128Ser) c.88C>T (p.Pro30Ser) c.127C>T (p.Pro43Ser) n.249C>T c.16C>T (p.Pro6Ser) | |
6 | g.106099379C>A | CA365146734 | ATG5,PRDM1 | c.491C>A (p.Pro164Gln) c.458-21064G>T (n.458-21064G>T) c.458-52554G>T (n.458-52554G>T) c.533C>A (p.Pro178Gln) c.383C>A (p.Pro128Gln) c.89C>A (p.Pro30Gln) c.128C>A (p.Pro43Gln) n.250C>A c.17C>A (p.Pro6Gln) | |
6 | g.106099379C>G | CA365146735 | ATG5,PRDM1 | c.491C>G (p.Pro164Arg) c.458-21064G>C (n.458-21064G>C) c.458-52554G>C (n.458-52554G>C) c.533C>G (p.Pro178Arg) c.383C>G (p.Pro128Arg) c.89C>G (p.Pro30Arg) c.128C>G (p.Pro43Arg) n.250C>G c.17C>G (p.Pro6Arg) | |
6 | g.106099379C>T | CA365146736 | ATG5,PRDM1 | c.491C>T (p.Pro164Leu) c.458-21064G>A (n.458-21064G>A) c.458-52554G>A (n.458-52554G>A) c.533C>T (p.Pro178Leu) c.383C>T (p.Pro128Leu) c.89C>T (p.Pro30Leu) c.128C>T (p.Pro43Leu) n.250C>T c.17C>T (p.Pro6Leu) | dbSNP |
6 | g.106099380A>C | CA451576346 | ATG5,PRDM1 | c.492A>C (p.Pro164=) c.458-21065T>G (n.458-21065T>G) c.458-52555T>G (n.458-52555T>G) c.534A>C (p.Pro178=) c.384A>C (p.Pro128=) c.90A>C (p.Pro30=) c.129A>C (p.Pro43=) n.251A>C c.18A>C (p.Pro6=) | |
6 | g.106099380A>G | CA451576347 | ATG5,PRDM1 | c.492A>G (p.Pro164=) c.458-21065T>C (n.458-21065T>C) c.458-52555T>C (n.458-52555T>C) c.534A>G (p.Pro178=) c.384A>G (p.Pro128=) c.90A>G (p.Pro30=) c.129A>G (p.Pro43=) n.251A>G c.18A>G (p.Pro6=) | |
6 | g.106099380A>T | CA451576348 | ATG5,PRDM1 | c.492A>T (p.Pro164=) c.458-21065T>A (n.458-21065T>A) c.458-52555T>A (n.458-52555T>A) c.534A>T (p.Pro178=) c.384A>T (p.Pro128=) c.90A>T (p.Pro30=) c.129A>T (p.Pro43=) n.251A>T c.18A>T (p.Pro6=) | |
6 | g.106099381G>A | CA365146738 | ATG5,PRDM1 | c.493G>A (p.Ala165Thr) c.458-21066C>T (n.458-21066C>T) c.458-52556C>T (n.458-52556C>T) c.535G>A (p.Ala179Thr) c.385G>A (p.Ala129Thr) c.91G>A (p.Ala31Thr) c.130G>A (p.Ala44Thr) n.252G>A c.19G>A (p.Ala7Thr) | dbSNP |
6 | g.106099381G>C | CA365146737 | ATG5,PRDM1 | c.493G>C (p.Ala165Pro) c.458-21066C>G (n.458-21066C>G) c.458-52556C>G (n.458-52556C>G) c.535G>C (p.Ala179Pro) c.385G>C (p.Ala129Pro) c.91G>C (p.Ala31Pro) c.130G>C (p.Ala44Pro) n.252G>C c.19G>C (p.Ala7Pro) | |
6 | g.106099381G= | CA1653274671 | ATG5,PRDM1 | c.493G= (p.Ala165=) c.458-21066C= (n.458-21066C=) c.458-52556C= (n.458-52556C=) c.535G= (p.Ala179=) c.385G= (p.Ala129=) c.91G= (p.Ala31=) c.130G= (p.Ala44=) n.252G= c.19G= (p.Ala7=) | |
6 | g.106099381G>T | CA3942156 | ATG5,PRDM1 | c.493G>T (p.Ala165Ser) c.458-21066C>A (n.458-21066C>A) c.458-52556C>A (n.458-52556C>A) c.535G>T (p.Ala179Ser) c.385G>T (p.Ala129Ser) c.91G>T (p.Ala31Ser) c.130G>T (p.Ala44Ser) n.252G>T c.19G>T (p.Ala7Ser) | dbSNP ExAC gnomAD v2 |
6 | g.106099382C>A | CA365146739 | ATG5,PRDM1 | c.494C>A (p.Ala165Glu) c.458-21067G>T (n.458-21067G>T) c.458-52557G>T (n.458-52557G>T) c.536C>A (p.Ala179Glu) c.386C>A (p.Ala129Glu) c.92C>A (p.Ala31Glu) c.131C>A (p.Ala44Glu) n.253C>A c.20C>A (p.Ala7Glu) | |
6 | g.106099382C= | CA1653274675 | ATG5,PRDM1 | c.494C= (p.Ala165=) c.458-21067G= (n.458-21067G=) c.458-52557G= (n.458-52557G=) c.536C= (p.Ala179=) c.386C= (p.Ala129=) c.92C= (p.Ala31=) c.131C= (p.Ala44=) n.253C= c.20C= (p.Ala7=) | |
6 | g.106099382C>G | CA365146740 | ATG5,PRDM1 | c.494C>G (p.Ala165Gly) c.458-21067G>C (n.458-21067G>C) c.458-52557G>C (n.458-52557G>C) c.536C>G (p.Ala179Gly) c.386C>G (p.Ala129Gly) c.92C>G (p.Ala31Gly) c.131C>G (p.Ala44Gly) n.253C>G c.20C>G (p.Ala7Gly) | |
6 | g.106099382C>T | CA3942157 | ATG5,PRDM1 | c.494C>T (p.Ala165Val) c.458-21067G>A (n.458-21067G>A) c.458-52557G>A (n.458-52557G>A) c.536C>T (p.Ala179Val) c.386C>T (p.Ala129Val) c.92C>T (p.Ala31Val) c.131C>T (p.Ala44Val) n.253C>T c.20C>T (p.Ala7Val) | dbSNP ExAC gnomAD v2 |
6 | g.106099383A>C | CA451576352 | ATG5,PRDM1 | c.495A>C (p.Ala165=) c.458-21068T>G (n.458-21068T>G) c.458-52558T>G (n.458-52558T>G) c.537A>C (p.Ala179=) c.387A>C (p.Ala129=) c.93A>C (p.Ala31=) c.132A>C (p.Ala44=) n.254A>C c.21A>C (p.Ala7=) | |
6 | g.106099383A>G | CA451576353 | ATG5,PRDM1 | c.495A>G (p.Ala165=) c.458-21068T>C (n.458-21068T>C) c.458-52558T>C (n.458-52558T>C) c.537A>G (p.Ala179=) c.387A>G (p.Ala129=) c.93A>G (p.Ala31=) c.132A>G (p.Ala44=) n.254A>G c.21A>G (p.Ala7=) | gnomAD v4 |
6 | g.106099383A>T | CA451576354 | ATG5,PRDM1 | c.495A>T (p.Ala165=) c.458-21068T>A (n.458-21068T>A) c.458-52558T>A (n.458-52558T>A) c.537A>T (p.Ala179=) c.387A>T (p.Ala129=) c.93A>T (p.Ala31=) c.132A>T (p.Ala44=) n.254A>T c.21A>T (p.Ala7=) | |
6 | g.106099384C>A | CA365146741 | ATG5,PRDM1 | c.496C>A (p.His166Asn) c.458-21069G>T (n.458-21069G>T) c.458-52559G>T (n.458-52559G>T) c.538C>A (p.His180Asn) c.388C>A (p.His130Asn) c.94C>A (p.His32Asn) c.133C>A (p.His45Asn) n.255C>A c.22C>A (p.His8Asn) | |
6 | g.106099384C= | CA1653274680 | ATG5,PRDM1 | c.496C= (p.His166=) c.458-21069G= (n.458-21069G=) c.458-52559G= (n.458-52559G=) c.538C= (p.His180=) c.388C= (p.His130=) c.94C= (p.His32=) c.133C= (p.His45=) n.255C= c.22C= (p.His8=) | |
6 | g.106099384C>G | CA365146742 | ATG5,PRDM1 | c.496C>G (p.His166Asp) c.458-21069G>C (n.458-21069G>C) c.458-52559G>C (n.458-52559G>C) c.538C>G (p.His180Asp) c.388C>G (p.His130Asp) c.94C>G (p.His32Asp) c.133C>G (p.His45Asp) n.255C>G c.22C>G (p.His8Asp) | gnomAD v4 |
6 | g.106099384C>T | CA365146743 | ATG5,PRDM1 | c.496C>T (p.His166Tyr) c.458-21069G>A (n.458-21069G>A) c.458-52559G>A (n.458-52559G>A) c.538C>T (p.His180Tyr) c.388C>T (p.His130Tyr) c.94C>T (p.His32Tyr) c.133C>T (p.His45Tyr) n.255C>T c.22C>T (p.His8Tyr) | dbSNP gnomAD v4 |
6 | g.106099385A>C | CA365146744 | ATG5,PRDM1 | c.497A>C (p.His166Pro) c.458-21070T>G (n.458-21070T>G) c.458-52560T>G (n.458-52560T>G) c.539A>C (p.His180Pro) c.389A>C (p.His130Pro) c.95A>C (p.His32Pro) c.134A>C (p.His45Pro) n.256A>C c.23A>C (p.His8Pro) | |
6 | g.106099385A>G | CA365146746 | ATG5,PRDM1 | c.497A>G (p.His166Arg) c.458-21070T>C (n.458-21070T>C) c.458-52560T>C (n.458-52560T>C) c.539A>G (p.His180Arg) c.389A>G (p.His130Arg) c.95A>G (p.His32Arg) c.134A>G (p.His45Arg) n.256A>G c.23A>G (p.His8Arg) | |
6 | g.106099385A>T | CA365146745 | ATG5,PRDM1 | c.497A>T (p.His166Leu) c.458-21070T>A (n.458-21070T>A) c.458-52560T>A (n.458-52560T>A) c.539A>T (p.His180Leu) c.389A>T (p.His130Leu) c.95A>T (p.His32Leu) c.134A>T (p.His45Leu) n.256A>T c.23A>T (p.His8Leu) | |
6 | g.106099386C>A | CA365146747 | ATG5,PRDM1 | c.498C>A (p.His166Gln) c.458-21071G>T (n.458-21071G>T) c.458-52561G>T (n.458-52561G>T) c.540C>A (p.His180Gln) c.390C>A (p.His130Gln) c.96C>A (p.His32Gln) c.135C>A (p.His45Gln) n.257C>A c.24C>A (p.His8Gln) | |
6 | g.106099386C>G | CA365146748 | ATG5,PRDM1 | c.498C>G (p.His166Gln) c.458-21071G>C (n.458-21071G>C) c.458-52561G>C (n.458-52561G>C) c.540C>G (p.His180Gln) c.390C>G (p.His130Gln) c.96C>G (p.His32Gln) c.135C>G (p.His45Gln) n.257C>G c.24C>G (p.His8Gln) | |
6 | g.106099386C>T | CA451576359 | ATG5,PRDM1 | c.498C>T (p.His166=) c.458-21071G>A (n.458-21071G>A) c.458-52561G>A (n.458-52561G>A) c.540C>T (p.His180=) c.390C>T (p.His130=) c.96C>T (p.His32=) c.135C>T (p.His45=) n.257C>T c.24C>T (p.His8=) | gnomAD v4 |
6 | g.106099387T>A | CA365146749 | ATG5,PRDM1 | c.499T>A (p.Ser167Thr) c.458-21072A>T (n.458-21072A>T) c.458-52562A>T (n.458-52562A>T) c.541T>A (p.Ser181Thr) c.391T>A (p.Ser131Thr) c.97T>A (p.Ser33Thr) c.136T>A (p.Ser46Thr) n.258T>A c.25T>A (p.Ser9Thr) | |
6 | g.106099387T>C | CA365146750 | ATG5,PRDM1 | c.499T>C (p.Ser167Pro) c.458-21072A>G (n.458-21072A>G) c.458-52562A>G (n.458-52562A>G) c.541T>C (p.Ser181Pro) c.391T>C (p.Ser131Pro) c.97T>C (p.Ser33Pro) c.136T>C (p.Ser46Pro) n.258T>C c.25T>C (p.Ser9Pro) | |
6 | g.106099387T>G | CA365146751 | ATG5,PRDM1 | c.499T>G (p.Ser167Ala) c.458-21072A>C (n.458-21072A>C) c.458-52562A>C (n.458-52562A>C) c.541T>G (p.Ser181Ala) c.391T>G (p.Ser131Ala) c.97T>G (p.Ser33Ala) c.136T>G (p.Ser46Ala) n.258T>G c.25T>G (p.Ser9Ala) | |
6 | g.106099388C>A | CA365146752 | ATG5,PRDM1 | c.500C>A (p.Ser167Tyr) c.458-21073G>T (n.458-21073G>T) c.458-52563G>T (n.458-52563G>T) c.542C>A (p.Ser181Tyr) c.392C>A (p.Ser131Tyr) c.98C>A (p.Ser33Tyr) c.137C>A (p.Ser46Tyr) n.259C>A c.26C>A (p.Ser9Tyr) | gnomAD v4 |
6 | g.106099388C= | CA1653274685 | ATG5,PRDM1 | c.500C= (p.Ser167=) c.458-21073G= (n.458-21073G=) c.458-52563G= (n.458-52563G=) c.542C= (p.Ser181=) c.392C= (p.Ser131=) c.98C= (p.Ser33=) c.137C= (p.Ser46=) n.259C= c.26C= (p.Ser9=) | |
6 | g.106099388C>G | CA365146753 | ATG5,PRDM1 | c.500C>G (p.Ser167Cys) c.458-21073G>C (n.458-21073G>C) c.458-52563G>C (n.458-52563G>C) c.542C>G (p.Ser181Cys) c.392C>G (p.Ser131Cys) c.98C>G (p.Ser33Cys) c.137C>G (p.Ser46Cys) n.259C>G c.26C>G (p.Ser9Cys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.106099388C>T | CA365146754 | ATG5,PRDM1 | c.500C>T (p.Ser167Phe) c.458-21073G>A (n.458-21073G>A) c.458-52563G>A (n.458-52563G>A) c.542C>T (p.Ser181Phe) c.392C>T (p.Ser131Phe) c.98C>T (p.Ser33Phe) c.137C>T (p.Ser46Phe) n.259C>T c.26C>T (p.Ser9Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.106099389T>A | CA451576361 | ATG5,PRDM1 | c.501T>A (p.Ser167=) c.458-21074A>T (n.458-21074A>T) c.458-52564A>T (n.458-52564A>T) c.543T>A (p.Ser181=) c.393T>A (p.Ser131=) c.99T>A (p.Ser33=) c.138T>A (p.Ser46=) n.260T>A c.27T>A (p.Ser9=) | dbSNP |
6 | g.106099389T>C | CA451576362 | ATG5,PRDM1 | c.501T>C (p.Ser167=) c.458-21074A>G (n.458-21074A>G) c.458-52564A>G (n.458-52564A>G) c.543T>C (p.Ser181=) c.393T>C (p.Ser131=) c.99T>C (p.Ser33=) c.138T>C (p.Ser46=) n.260T>C c.27T>C (p.Ser9=) | |
6 | g.106099389T>G | CA451576363 | ATG5,PRDM1 | c.501T>G (p.Ser167=) c.458-21074A>C (n.458-21074A>C) c.458-52564A>C (n.458-52564A>C) c.543T>G (p.Ser181=) c.393T>G (p.Ser131=) c.99T>G (p.Ser33=) c.138T>G (p.Ser46=) n.260T>G c.27T>G (p.Ser9=) | |
6 | g.106099389T= | CA1653274688 | ATG5,PRDM1 | c.501T= (p.Ser167=) c.458-21074A= (n.458-21074A=) c.458-52564A= (n.458-52564A=) c.543T= (p.Ser181=) c.393T= (p.Ser131=) c.99T= (p.Ser33=) c.138T= (p.Ser46=) n.260T= c.27T= (p.Ser9=) | |
6 | g.106099390C>A | CA365146755 | ATG5,PRDM1 | c.502C>A (p.Pro168Thr) c.458-21075G>T (n.458-21075G>T) c.458-52565G>T (n.458-52565G>T) c.544C>A (p.Pro182Thr) c.394C>A (p.Pro132Thr) c.100C>A (p.Pro34Thr) c.139C>A (p.Pro47Thr) n.261C>A c.28C>A (p.Pro10Thr) | |
6 | g.106099390C= | CA1653274694 | ATG5,PRDM1 | c.502C= (p.Pro168=) c.458-21075G= (n.458-21075G=) c.458-52565G= (n.458-52565G=) c.544C= (p.Pro182=) c.394C= (p.Pro132=) c.100C= (p.Pro34=) c.139C= (p.Pro47=) n.261C= c.28C= (p.Pro10=) | |
6 | g.106099390C>G | CA161616 | ATG5,PRDM1 | c.502C>G (p.Pro168Ala) c.458-21075G>C (n.458-21075G>C) c.458-52565G>C (n.458-52565G>C) c.544C>G (p.Pro182Ala) c.394C>G (p.Pro132Ala) c.100C>G (p.Pro34Ala) c.139C>G (p.Pro47Ala) n.261C>G c.28C>G (p.Pro10Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.106099390C>T | CA365146756 | ATG5,PRDM1 | c.502C>T (p.Pro168Ser) c.458-21075G>A (n.458-21075G>A) c.458-52565G>A (n.458-52565G>A) c.544C>T (p.Pro182Ser) c.394C>T (p.Pro132Ser) c.100C>T (p.Pro34Ser) c.139C>T (p.Pro47Ser) n.261C>T c.28C>T (p.Pro10Ser) | gnomAD v4 |
6 | g.106099391C>A | CA365146757 | ATG5,PRDM1 | c.503C>A (p.Pro168His) c.458-21076G>T (n.458-21076G>T) c.458-52566G>T (n.458-52566G>T) c.545C>A (p.Pro182His) c.395C>A (p.Pro132His) c.101C>A (p.Pro34His) c.140C>A (p.Pro47His) n.262C>A c.29C>A (p.Pro10His) | gnomAD v4 |
6 | g.106099391C>G | CA365146759 | ATG5,PRDM1 | c.503C>G (p.Pro168Arg) c.458-21076G>C (n.458-21076G>C) c.458-52566G>C (n.458-52566G>C) c.545C>G (p.Pro182Arg) c.395C>G (p.Pro132Arg) c.101C>G (p.Pro34Arg) c.140C>G (p.Pro47Arg) n.262C>G c.29C>G (p.Pro10Arg) | |
6 | g.106099391C>T | CA365146758 | ATG5,PRDM1 | c.503C>T (p.Pro168Leu) c.458-21076G>A (n.458-21076G>A) c.458-52566G>A (n.458-52566G>A) c.545C>T (p.Pro182Leu) c.395C>T (p.Pro132Leu) c.101C>T (p.Pro34Leu) c.140C>T (p.Pro47Leu) n.262C>T c.29C>T (p.Pro10Leu) | |
6 | g.106099392C>A | CA451576365 | ATG5,PRDM1 | c.504C>A (p.Pro168=) c.458-21077G>T (n.458-21077G>T) c.458-52567G>T (n.458-52567G>T) c.546C>A (p.Pro182=) c.396C>A (p.Pro132=) c.102C>A (p.Pro34=) c.141C>A (p.Pro47=) n.263C>A c.30C>A (p.Pro10=) | |
6 | g.106099392C>G | CA451576367 | ATG5,PRDM1 | c.504C>G (p.Pro168=) c.458-21077G>C (n.458-21077G>C) c.458-52567G>C (n.458-52567G>C) c.546C>G (p.Pro182=) c.396C>G (p.Pro132=) c.102C>G (p.Pro34=) c.141C>G (p.Pro47=) n.263C>G c.30C>G (p.Pro10=) | dbSNP |
6 | g.106099392C>T | CA451576369 | ATG5,PRDM1 | c.504C>T (p.Pro168=) c.458-21077G>A (n.458-21077G>A) c.458-52567G>A (n.458-52567G>A) c.546C>T (p.Pro182=) c.396C>T (p.Pro132=) c.102C>T (p.Pro34=) c.141C>T (p.Pro47=) n.263C>T c.30C>T (p.Pro10=) | |
6 | g.106099393C>A | CA451576370 | ATG5,PRDM1 | c.505C>A (p.Arg169=) c.458-21078G>T (n.458-21078G>T) c.458-52568G>T (n.458-52568G>T) c.547C>A (p.Arg183=) c.397C>A (p.Arg133=) c.103C>A (p.Arg35=) c.142C>A (p.Arg48=) n.264C>A c.31C>A (p.Arg11=) | dbSNP |
6 | g.106099393C= | CA1653274701 | ATG5,PRDM1 | c.505C= (p.Arg169=) c.458-21078G= (n.458-21078G=) c.458-52568G= (n.458-52568G=) c.547C= (p.Arg183=) c.397C= (p.Arg133=) c.103C= (p.Arg35=) c.142C= (p.Arg48=) n.264C= c.31C= (p.Arg11=) | |
6 | g.106099393C>G | CA3942158 | ATG5,PRDM1 | c.505C>G (p.Arg169Gly) c.458-21078G>C (n.458-21078G>C) c.458-52568G>C (n.458-52568G>C) c.547C>G (p.Arg183Gly) c.397C>G (p.Arg133Gly) c.103C>G (p.Arg35Gly) c.142C>G (p.Arg48Gly) n.264C>G c.31C>G (p.Arg11Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.106099393C>T | CA365146760 | ATG5,PRDM1 | c.505C>T (p.Arg169Trp) c.458-21078G>A (n.458-21078G>A) c.458-52568G>A (n.458-52568G>A) c.547C>T (p.Arg183Trp) c.397C>T (p.Arg133Trp) c.103C>T (p.Arg35Trp) c.142C>T (p.Arg48Trp) n.264C>T c.31C>T (p.Arg11Trp) | dbSNP gnomAD v4 |
6 | g.106099394G>A | CA3942159 | ATG5,PRDM1 | c.506G>A (p.Arg169Gln) c.458-21079C>T (n.458-21079C>T) c.458-52569C>T (n.458-52569C>T) c.548G>A (p.Arg183Gln) c.398G>A (p.Arg133Gln) c.104G>A (p.Arg35Gln) c.143G>A (p.Arg48Gln) n.265G>A c.32G>A (p.Arg11Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.106099394G>C | CA365146761 | ATG5,PRDM1 | c.506G>C (p.Arg169Pro) c.458-21079C>G (n.458-21079C>G) c.458-52569C>G (n.458-52569C>G) c.548G>C (p.Arg183Pro) c.398G>C (p.Arg133Pro) c.104G>C (p.Arg35Pro) c.143G>C (p.Arg48Pro) n.265G>C c.32G>C (p.Arg11Pro) | dbSNP gnomAD v4 |
6 | g.106099394G= | CA1653274704 | ATG5,PRDM1 | c.506G= (p.Arg169=) c.458-21079C= (n.458-21079C=) c.458-52569C= (n.458-52569C=) c.548G= (p.Arg183=) c.398G= (p.Arg133=) c.104G= (p.Arg35=) c.143G= (p.Arg48=) n.265G= c.32G= (p.Arg11=) | |
6 | g.106099394G>T | CA3942160 | ATG5,PRDM1 | c.506G>T (p.Arg169Leu) c.458-21079C>A (n.458-21079C>A) c.458-52569C>A (n.458-52569C>A) c.548G>T (p.Arg183Leu) c.398G>T (p.Arg133Leu) c.104G>T (p.Arg35Leu) c.143G>T (p.Arg48Leu) n.265G>T c.32G>T (p.Arg11Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.106099395G>A | CA451576372 | ATG5,PRDM1 | c.507G>A (p.Arg169=) c.458-21080C>T (n.458-21080C>T) c.458-52570C>T (n.458-52570C>T) c.549G>A (p.Arg183=) c.399G>A (p.Arg133=) c.105G>A (p.Arg35=) c.144G>A (p.Arg48=) n.266G>A c.33G>A (p.Arg11=) | dbSNP |
6 | g.106099395G>C | CA451576374 | ATG5,PRDM1 | c.507G>C (p.Arg169=) c.458-21080C>G (n.458-21080C>G) c.458-52570C>G (n.458-52570C>G) c.549G>C (p.Arg183=) c.399G>C (p.Arg133=) c.105G>C (p.Arg35=) c.144G>C (p.Arg48=) n.266G>C c.33G>C (p.Arg11=) | dbSNP |
6 | g.106099395G>T | CA451576375 | ATG5,PRDM1 | c.507G>T (p.Arg169=) c.458-21080C>A (n.458-21080C>A) c.458-52570C>A (n.458-52570C>A) c.549G>T (p.Arg183=) c.399G>T (p.Arg133=) c.105G>T (p.Arg35=) c.144G>T (p.Arg48=) n.266G>T c.33G>T (p.Arg11=) | dbSNP |
6 | g.106099396G>A | CA365146762 | ATG5,PRDM1 | c.508G>A (p.Glu170Lys) c.458-21081C>T (n.458-21081C>T) c.458-52571C>T (n.458-52571C>T) c.550G>A (p.Glu184Lys) c.400G>A (p.Glu134Lys) c.106G>A (p.Glu36Lys) c.145G>A (p.Glu49Lys) n.267G>A c.34G>A (p.Glu12Lys) | COSMIC COSMIC |
6 | g.106099396G>C | CA365146763 | ATG5,PRDM1 | c.508G>C (p.Glu170Gln) c.458-21081C>G (n.458-21081C>G) c.458-52571C>G (n.458-52571C>G) c.550G>C (p.Glu184Gln) c.400G>C (p.Glu134Gln) c.106G>C (p.Glu36Gln) c.145G>C (p.Glu49Gln) n.267G>C c.34G>C (p.Glu12Gln) | |
6 | g.106099396G>T | CA365146764 | ATG5,PRDM1 | c.508G>T (p.Glu170Ter) c.458-21081C>A (n.458-21081C>A) c.458-52571C>A (n.458-52571C>A) c.550G>T (p.Glu184Ter) c.400G>T (p.Glu134Ter) c.106G>T (p.Glu36Ter) c.145G>T (p.Glu49Ter) n.267G>T c.34G>T (p.Glu12Ter) | |
6 | g.106099397A>C | CA365146765 | ATG5,PRDM1 | c.509A>C (p.Glu170Ala) c.458-21082T>G (n.458-21082T>G) c.458-52572T>G (n.458-52572T>G) c.551A>C (p.Glu184Ala) c.401A>C (p.Glu134Ala) c.107A>C (p.Glu36Ala) c.146A>C (p.Glu49Ala) n.268A>C c.35A>C (p.Glu12Ala) | |
6 | g.106099397A>G | CA365146766 | ATG5,PRDM1 | c.509A>G (p.Glu170Gly) c.458-21082T>C (n.458-21082T>C) c.458-52572T>C (n.458-52572T>C) c.551A>G (p.Glu184Gly) c.401A>G (p.Glu134Gly) c.107A>G (p.Glu36Gly) c.146A>G (p.Glu49Gly) n.268A>G c.35A>G (p.Glu12Gly) | |
6 | g.106099397A>T | CA365146767 | ATG5,PRDM1 | c.509A>T (p.Glu170Val) c.458-21082T>A (n.458-21082T>A) c.458-52572T>A (n.458-52572T>A) c.551A>T (p.Glu184Val) c.401A>T (p.Glu134Val) c.107A>T (p.Glu36Val) c.146A>T (p.Glu49Val) n.268A>T c.35A>T (p.Glu12Val) | gnomAD v4 |
6 | g.106099397dup | CA2695206847 | ATG5,PRDM1 | c.509dup (p.Gln171AlafsTer18) c.458-21082dup (n.458-21082dup) c.458-52572dup (n.458-52572dup) c.551dup (p.Gln185AlafsTer18) c.401dup (p.Gln135AlafsTer18) c.107dup (p.Gln37AlafsTer18) c.146dup (p.Gln50AlafsTer18) n.268dup c.35dup (p.Gln13AlafsTer18) | |
6 | g.106099398G>A | CA451576376 | ATG5,PRDM1 | c.510G>A (p.Glu170=) c.458-21083C>T (n.458-21083C>T) c.458-52573C>T (n.458-52573C>T) c.552G>A (p.Glu184=) c.402G>A (p.Glu134=) c.108G>A (p.Glu36=) c.147G>A (p.Glu49=) n.269G>A c.36G>A (p.Glu12=) | dbSNP |
6 | g.106099398G>C | CA365146768 | ATG5,PRDM1 | c.510G>C (p.Glu170Asp) c.458-21083C>G (n.458-21083C>G) c.458-52573C>G (n.458-52573C>G) c.552G>C (p.Glu184Asp) c.402G>C (p.Glu134Asp) c.108G>C (p.Glu36Asp) c.147G>C (p.Glu49Asp) n.269G>C c.36G>C (p.Glu12Asp) | |
6 | g.106099398G>T | CA365146769 | ATG5,PRDM1 | c.510G>T (p.Glu170Asp) c.458-21083C>A (n.458-21083C>A) c.458-52573C>A (n.458-52573C>A) c.552G>T (p.Glu184Asp) c.402G>T (p.Glu134Asp) c.108G>T (p.Glu36Asp) c.147G>T (p.Glu49Asp) n.269G>T c.36G>T (p.Glu12Asp) | |
6 | g.106099399C>A | CA365146770 | ATG5,PRDM1 | c.511C>A (p.Gln171Lys) c.458-21084G>T (n.458-21084G>T) c.458-52574G>T (n.458-52574G>T) c.553C>A (p.Gln185Lys) c.403C>A (p.Gln135Lys) c.109C>A (p.Gln37Lys) c.148C>A (p.Gln50Lys) n.270C>A c.37C>A (p.Gln13Lys) | dbSNP |
6 | g.106099399C>G | CA365146772 | ATG5,PRDM1 | c.511C>G (p.Gln171Glu) c.458-21084G>C (n.458-21084G>C) c.458-52574G>C (n.458-52574G>C) c.553C>G (p.Gln185Glu) c.403C>G (p.Gln135Glu) c.109C>G (p.Gln37Glu) c.148C>G (p.Gln50Glu) n.270C>G c.37C>G (p.Gln13Glu) | |
6 | g.106099399C>T | CA365146771 | ATG5,PRDM1 | c.511C>T (p.Gln171Ter) c.458-21084G>A (n.458-21084G>A) c.458-52574G>A (n.458-52574G>A) c.553C>T (p.Gln185Ter) c.403C>T (p.Gln135Ter) c.109C>T (p.Gln37Ter) c.148C>T (p.Gln50Ter) n.270C>T c.37C>T (p.Gln13Ter) | |
6 | g.106099400A>C | CA365146773 | ATG5,PRDM1 | c.512A>C (p.Gln171Pro) c.458-21085T>G (n.458-21085T>G) c.458-52575T>G (n.458-52575T>G) c.554A>C (p.Gln185Pro) c.404A>C (p.Gln135Pro) c.110A>C (p.Gln37Pro) c.149A>C (p.Gln50Pro) n.271A>C c.38A>C (p.Gln13Pro) | |
6 | g.106099400A>G | CA365146774 | ATG5,PRDM1 | c.512A>G (p.Gln171Arg) c.458-21085T>C (n.458-21085T>C) c.458-52575T>C (n.458-52575T>C) c.554A>G (p.Gln185Arg) c.404A>G (p.Gln135Arg) c.110A>G (p.Gln37Arg) c.149A>G (p.Gln50Arg) n.271A>G c.38A>G (p.Gln13Arg) | |
6 | g.106099400A>T | CA365146775 | ATG5,PRDM1 | c.512A>T (p.Gln171Leu) c.458-21085T>A (n.458-21085T>A) c.458-52575T>A (n.458-52575T>A) c.554A>T (p.Gln185Leu) c.404A>T (p.Gln135Leu) c.110A>T (p.Gln37Leu) c.149A>T (p.Gln50Leu) n.271A>T c.38A>T (p.Gln13Leu) | |
6 | g.106099401A>C | CA365146776 | ATG5,PRDM1 | c.513A>C (p.Gln171His) c.458-21086T>G (n.458-21086T>G) c.458-52576T>G (n.458-52576T>G) c.555A>C (p.Gln185His) c.405A>C (p.Gln135His) c.111A>C (p.Gln37His) c.150A>C (p.Gln50His) n.272A>C c.39A>C (p.Gln13His) | |
6 | g.106099401A>G | CA451576380 | ATG5,PRDM1 | c.513A>G (p.Gln171=) c.458-21086T>C (n.458-21086T>C) c.458-52576T>C (n.458-52576T>C) c.555A>G (p.Gln185=) c.405A>G (p.Gln135=) c.111A>G (p.Gln37=) c.150A>G (p.Gln50=) n.272A>G c.39A>G (p.Gln13=) | |
6 | g.106099401A>T | CA365146777 | ATG5,PRDM1 | c.513A>T (p.Gln171His) c.458-21086T>A (n.458-21086T>A) c.458-52576T>A (n.458-52576T>A) c.555A>T (p.Gln185His) c.405A>T (p.Gln135His) c.111A>T (p.Gln37His) c.150A>T (p.Gln50His) n.272A>T c.39A>T (p.Gln13His) | |
6 | g.106099402A>C | CA365146778 | ATG5,PRDM1 | c.514A>C (p.Asn172His) c.458-21087T>G (n.458-21087T>G) c.458-52577T>G (n.458-52577T>G) c.556A>C (p.Asn186His) c.406A>C (p.Asn136His) c.112A>C (p.Asn38His) c.151A>C (p.Asn51His) n.273A>C c.40A>C (p.Asn14His) | |
6 | g.106099402A>G | CA365146779 | ATG5,PRDM1 | c.514A>G (p.Asn172Asp) c.458-21087T>C (n.458-21087T>C) c.458-52577T>C (n.458-52577T>C) c.556A>G (p.Asn186Asp) c.406A>G (p.Asn136Asp) c.112A>G (p.Asn38Asp) c.151A>G (p.Asn51Asp) n.273A>G c.40A>G (p.Asn14Asp) | |
6 | g.106099402A>T | CA365146780 | ATG5,PRDM1 | c.514A>T (p.Asn172Tyr) c.458-21087T>A (n.458-21087T>A) c.458-52577T>A (n.458-52577T>A) c.556A>T (p.Asn186Tyr) c.406A>T (p.Asn136Tyr) c.112A>T (p.Asn38Tyr) c.151A>T (p.Asn51Tyr) n.273A>T c.40A>T (p.Asn14Tyr) | |
6 | g.106099403A>C | CA365146781 | ATG5,PRDM1 | c.515A>C (p.Asn172Thr) c.458-21088T>G (n.458-21088T>G) c.458-52578T>G (n.458-52578T>G) c.557A>C (p.Asn186Thr) c.407A>C (p.Asn136Thr) c.113A>C (p.Asn38Thr) c.152A>C (p.Asn51Thr) n.274A>C c.41A>C (p.Asn14Thr) | |
6 | g.106099403A>G | CA365146782 | ATG5,PRDM1 | c.515A>G (p.Asn172Ser) c.458-21088T>C (n.458-21088T>C) c.458-52578T>C (n.458-52578T>C) c.557A>G (p.Asn186Ser) c.407A>G (p.Asn136Ser) c.113A>G (p.Asn38Ser) c.152A>G (p.Asn51Ser) n.274A>G c.41A>G (p.Asn14Ser) | |
6 | g.106099403A>T | CA365146783 | ATG5,PRDM1 | c.515A>T (p.Asn172Ile) c.458-21088T>A (n.458-21088T>A) c.458-52578T>A (n.458-52578T>A) c.557A>T (p.Asn186Ile) c.407A>T (p.Asn136Ile) c.113A>T (p.Asn38Ile) c.152A>T (p.Asn51Ile) n.274A>T c.41A>T (p.Asn14Ile) | |
6 | g.106099404C>A | CA365146784 | ATG5,PRDM1 | c.516C>A (p.Asn172Lys) c.458-21089G>T (n.458-21089G>T) c.458-52579G>T (n.458-52579G>T) c.558C>A (p.Asn186Lys) c.408C>A (p.Asn136Lys) c.114C>A (p.Asn38Lys) c.153C>A (p.Asn51Lys) n.275C>A c.42C>A (p.Asn14Lys) | |
6 | g.106099404C>G | CA365146785 | ATG5,PRDM1 | c.516C>G (p.Asn172Lys) c.458-21089G>C (n.458-21089G>C) c.458-52579G>C (n.458-52579G>C) c.558C>G (p.Asn186Lys) c.408C>G (p.Asn136Lys) c.114C>G (p.Asn38Lys) c.153C>G (p.Asn51Lys) n.275C>G c.42C>G (p.Asn14Lys) | |
6 | g.106099404C>T | CA451576416 | ATG5,PRDM1 | c.516C>T (p.Asn172=) c.458-21089G>A (n.458-21089G>A) c.458-52579G>A (n.458-52579G>A) c.558C>T (p.Asn186=) c.408C>T (p.Asn136=) c.114C>T (p.Asn38=) c.153C>T (p.Asn51=) n.275C>T c.42C>T (p.Asn14=) | |
6 | g.106099405C>A | CA365146786 | ATG5,PRDM1 | c.517C>A (p.Leu173Met) c.458-21090G>T (n.458-21090G>T) c.458-52580G>T (n.458-52580G>T) c.559C>A (p.Leu187Met) c.409C>A (p.Leu137Met) c.115C>A (p.Leu39Met) c.154C>A (p.Leu52Met) n.276C>A c.43C>A (p.Leu15Met) | |
6 | g.106099405C>G | CA365146787 | ATG5,PRDM1 | c.517C>G (p.Leu173Val) c.458-21090G>C (n.458-21090G>C) c.458-52580G>C (n.458-52580G>C) c.559C>G (p.Leu187Val) c.409C>G (p.Leu137Val) c.115C>G (p.Leu39Val) c.154C>G (p.Leu52Val) n.276C>G c.43C>G (p.Leu15Val) | dbSNP |
6 | g.106099405C>T | CA451576418 | ATG5,PRDM1 | c.517C>T (p.Leu173=) c.458-21090G>A (n.458-21090G>A) c.458-52580G>A (n.458-52580G>A) c.559C>T (p.Leu187=) c.409C>T (p.Leu137=) c.115C>T (p.Leu39=) c.154C>T (p.Leu52=) n.276C>T c.43C>T (p.Leu15=) | |
6 | g.106099406T>A | CA365146788 | ATG5,PRDM1 | c.518T>A (p.Leu173Gln) c.458-21091A>T (n.458-21091A>T) c.458-52581A>T (n.458-52581A>T) c.560T>A (p.Leu187Gln) c.410T>A (p.Leu137Gln) c.116T>A (p.Leu39Gln) c.155T>A (p.Leu52Gln) n.277T>A c.44T>A (p.Leu15Gln) | |
6 | g.106099406T>C | CA365146790 | ATG5,PRDM1 | c.518T>C (p.Leu173Pro) c.458-21091A>G (n.458-21091A>G) c.458-52581A>G (n.458-52581A>G) c.560T>C (p.Leu187Pro) c.410T>C (p.Leu137Pro) c.116T>C (p.Leu39Pro) c.155T>C (p.Leu52Pro) n.277T>C c.44T>C (p.Leu15Pro) | |
6 | g.106099406T>G | CA365146789 | ATG5,PRDM1 | c.518T>G (p.Leu173Arg) c.458-21091A>C (n.458-21091A>C) c.458-52581A>C (n.458-52581A>C) c.560T>G (p.Leu187Arg) c.410T>G (p.Leu137Arg) c.116T>G (p.Leu39Arg) c.155T>G (p.Leu52Arg) n.277T>G c.44T>G (p.Leu15Arg) | |
6 | g.106099407G>A | CA451576421 | ATG5,PRDM1 | c.519G>A (p.Leu173=) c.458-21092C>T (n.458-21092C>T) c.458-52582C>T (n.458-52582C>T) c.561G>A (p.Leu187=) c.411G>A (p.Leu137=) c.117G>A (p.Leu39=) c.156G>A (p.Leu52=) n.278G>A c.45G>A (p.Leu15=) | |
6 | g.106099407G>C | CA451576423 | ATG5,PRDM1 | c.519G>C (p.Leu173=) c.458-21092C>G (n.458-21092C>G) c.458-52582C>G (n.458-52582C>G) c.561G>C (p.Leu187=) c.411G>C (p.Leu137=) c.117G>C (p.Leu39=) c.156G>C (p.Leu52=) n.278G>C c.45G>C (p.Leu15=) | dbSNP gnomAD v4 |
6 | g.106099407G>T | CA451576424 | ATG5,PRDM1 | c.519G>T (p.Leu173=) c.458-21092C>A (n.458-21092C>A) c.458-52582C>A (n.458-52582C>A) c.561G>T (p.Leu187=) c.411G>T (p.Leu137=) c.117G>T (p.Leu39=) c.156G>T (p.Leu52=) n.278G>T c.45G>T (p.Leu15=) | |
6 | g.106099408G>A | CA365146791 | ATG5,PRDM1 | c.520G>A (p.Ala174Thr) c.458-21093C>T (n.458-21093C>T) c.458-52583C>T (n.458-52583C>T) c.562G>A (p.Ala188Thr) c.412G>A (p.Ala138Thr) c.118G>A (p.Ala40Thr) c.157G>A (p.Ala53Thr) n.279G>A c.46G>A (p.Ala16Thr) | |
6 | g.106099408G>C | CA365146793 | ATG5,PRDM1 | c.520G>C (p.Ala174Pro) c.458-21093C>G (n.458-21093C>G) c.458-52583C>G (n.458-52583C>G) c.562G>C (p.Ala188Pro) c.412G>C (p.Ala138Pro) c.118G>C (p.Ala40Pro) c.157G>C (p.Ala53Pro) n.279G>C c.46G>C (p.Ala16Pro) | dbSNP |
6 | g.106099408G>T | CA365146792 | ATG5,PRDM1 | c.520G>T (p.Ala174Ser) c.458-21093C>A (n.458-21093C>A) c.458-52583C>A (n.458-52583C>A) c.562G>T (p.Ala188Ser) c.412G>T (p.Ala138Ser) c.118G>T (p.Ala40Ser) c.157G>T (p.Ala53Ser) n.279G>T c.46G>T (p.Ala16Ser) | |
6 | g.106099409C>A | CA365146794 | ATG5,PRDM1 | c.521C>A (p.Ala174Asp) c.458-21094G>T (n.458-21094G>T) c.458-52584G>T (n.458-52584G>T) c.563C>A (p.Ala188Asp) c.413C>A (p.Ala138Asp) c.119C>A (p.Ala40Asp) c.158C>A (p.Ala53Asp) n.280C>A c.47C>A (p.Ala16Asp) | COSMIC |
6 | g.106099409C>G | CA365146795 | ATG5,PRDM1 | c.521C>G (p.Ala174Gly) c.458-21094G>C (n.458-21094G>C) c.458-52584G>C (n.458-52584G>C) c.563C>G (p.Ala188Gly) c.413C>G (p.Ala138Gly) c.119C>G (p.Ala40Gly) c.158C>G (p.Ala53Gly) n.280C>G c.47C>G (p.Ala16Gly) | |
6 | g.106099409C>T | CA365146796 | ATG5,PRDM1 | c.521C>T (p.Ala174Val) c.458-21094G>A (n.458-21094G>A) c.458-52584G>A (n.458-52584G>A) c.563C>T (p.Ala188Val) c.413C>T (p.Ala138Val) c.119C>T (p.Ala40Val) c.158C>T (p.Ala53Val) n.280C>T c.47C>T (p.Ala16Val) | dbSNP |
6 | g.106099410T>A | CA451576426 | ATG5,PRDM1 | c.522T>A (p.Ala174=) c.458-21095A>T (n.458-21095A>T) c.458-52585A>T (n.458-52585A>T) c.564T>A (p.Ala188=) c.414T>A (p.Ala138=) c.120T>A (p.Ala40=) c.159T>A (p.Ala53=) n.281T>A c.48T>A (p.Ala16=) | |
6 | g.106099410T>C | CA451576428 | ATG5,PRDM1 | c.522T>C (p.Ala174=) c.458-21095A>G (n.458-21095A>G) c.458-52585A>G (n.458-52585A>G) c.564T>C (p.Ala188=) c.414T>C (p.Ala138=) c.120T>C (p.Ala40=) c.159T>C (p.Ala53=) n.281T>C c.48T>C (p.Ala16=) | |
6 | g.106099410T>G | CA451576427 | ATG5,PRDM1 | c.522T>G (p.Ala174=) c.458-21095A>C (n.458-21095A>C) c.458-52585A>C (n.458-52585A>C) c.564T>G (p.Ala188=) c.414T>G (p.Ala138=) c.120T>G (p.Ala40=) c.159T>G (p.Ala53=) n.281T>G c.48T>G (p.Ala16=) | dbSNP gnomAD v4 |
6 | g.106099410T= | CA1653274707 | ATG5,PRDM1 | c.522T= (p.Ala174=) c.458-21095A= (n.458-21095A=) c.458-52585A= (n.458-52585A=) c.564T= (p.Ala188=) c.414T= (p.Ala138=) c.120T= (p.Ala40=) c.159T= (p.Ala53=) n.281T= c.48T= (p.Ala16=) | |
6 | g.106099411G>A | CA365146797 | ATG5,PRDM1 | c.523G>A (p.Ala175Thr) c.458-21096C>T (n.458-21096C>T) c.458-52586C>T (n.458-52586C>T) c.565G>A (p.Ala189Thr) c.415G>A (p.Ala139Thr) c.121G>A (p.Ala41Thr) c.160G>A (p.Ala54Thr) n.282G>A c.49G>A (p.Ala17Thr) | dbSNP gnomAD v4 |
6 | g.106099411G>C | CA365146798 | ATG5,PRDM1 | c.523G>C (p.Ala175Pro) c.458-21096C>G (n.458-21096C>G) c.458-52586C>G (n.458-52586C>G) c.565G>C (p.Ala189Pro) c.415G>C (p.Ala139Pro) c.121G>C (p.Ala41Pro) c.160G>C (p.Ala54Pro) n.282G>C c.49G>C (p.Ala17Pro) | |
6 | g.106099411G>T | CA365146799 | ATG5,PRDM1 | c.523G>T (p.Ala175Ser) c.458-21096C>A (n.458-21096C>A) c.458-52586C>A (n.458-52586C>A) c.565G>T (p.Ala189Ser) c.415G>T (p.Ala139Ser) c.121G>T (p.Ala41Ser) c.160G>T (p.Ala54Ser) n.282G>T c.49G>T (p.Ala17Ser) | |
6 | g.106099412C>A | CA365146800 | ATG5,PRDM1 | c.524C>A (p.Ala175Glu) c.458-21097G>T (n.458-21097G>T) c.458-52587G>T (n.458-52587G>T) c.566C>A (p.Ala189Glu) c.416C>A (p.Ala139Glu) c.122C>A (p.Ala41Glu) c.161C>A (p.Ala54Glu) n.283C>A c.50C>A (p.Ala17Glu) | dbSNP |
6 | g.106099412C= | CA1653274711 | ATG5,PRDM1 | c.524C= (p.Ala175=) c.458-21097G= (n.458-21097G=) c.458-52587G= (n.458-52587G=) c.566C= (p.Ala189=) c.416C= (p.Ala139=) c.122C= (p.Ala41=) c.161C= (p.Ala54=) n.283C= c.50C= (p.Ala17=) | |
6 | g.106099412C>G | CA365146801 | ATG5,PRDM1 | c.524C>G (p.Ala175Gly) c.458-21097G>C (n.458-21097G>C) c.458-52587G>C (n.458-52587G>C) c.566C>G (p.Ala189Gly) c.416C>G (p.Ala139Gly) c.122C>G (p.Ala41Gly) c.161C>G (p.Ala54Gly) n.283C>G c.50C>G (p.Ala17Gly) | |
6 | g.106099412C>T | CA144944228 | ATG5,PRDM1 | c.524C>T (p.Ala175Val) c.458-21097G>A (n.458-21097G>A) c.458-52587G>A (n.458-52587G>A) c.566C>T (p.Ala189Val) c.416C>T (p.Ala139Val) c.122C>T (p.Ala41Val) c.161C>T (p.Ala54Val) n.283C>T c.50C>T (p.Ala17Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.106099413G>A | CA3942161 | ATG5,PRDM1 | c.525G>A (p.Ala175=) c.458-21098C>T (n.458-21098C>T) c.458-52588C>T (n.458-52588C>T) c.567G>A (p.Ala189=) c.417G>A (p.Ala139=) c.123G>A (p.Ala41=) c.162G>A (p.Ala54=) n.284G>A c.51G>A (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.106099413G>C | CA3942162 | ATG5,PRDM1 | c.525G>C (p.Ala175=) c.458-21098C>G (n.458-21098C>G) c.458-52588C>G (n.458-52588C>G) c.567G>C (p.Ala189=) c.417G>C (p.Ala139=) c.123G>C (p.Ala41=) c.162G>C (p.Ala54=) n.284G>C c.51G>C (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.106099413G= | CA1653274718 | ATG5,PRDM1 | c.525G= (p.Ala175=) c.458-21098C= (n.458-21098C=) c.458-52588C= (n.458-52588C=) c.567G= (p.Ala189=) c.417G= (p.Ala139=) c.123G= (p.Ala41=) c.162G= (p.Ala54=) n.284G= c.51G= (p.Ala17=) | |
6 | g.106099413G>T | CA3942163 | ATG5,PRDM1 | c.525G>T (p.Ala175=) c.458-21098C>A (n.458-21098C>A) c.458-52588C>A (n.458-52588C>A) c.567G>T (p.Ala189=) c.417G>T (p.Ala139=) c.123G>T (p.Ala41=) c.162G>T (p.Ala54=) n.284G>T c.51G>T (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.106099414T>A | CA365146802 | ATG5,PRDM1 | c.526T>A (p.Cys176Ser) c.458-21099A>T (n.458-21099A>T) c.458-52589A>T (n.458-52589A>T) c.568T>A (p.Cys190Ser) c.418T>A (p.Cys140Ser) c.124T>A (p.Cys42Ser) c.163T>A (p.Cys55Ser) n.285T>A c.52T>A (p.Cys18Ser) | |
6 | g.106099414T>C | CA365146803 | ATG5,PRDM1 | c.526T>C (p.Cys176Arg) c.458-21099A>G (n.458-21099A>G) c.458-52589A>G (n.458-52589A>G) c.568T>C (p.Cys190Arg) c.418T>C (p.Cys140Arg) c.124T>C (p.Cys42Arg) c.163T>C (p.Cys55Arg) n.285T>C c.52T>C (p.Cys18Arg) | |
6 | g.106099414T>G | CA365146804 | ATG5,PRDM1 | c.526T>G (p.Cys176Gly) c.458-21099A>C (n.458-21099A>C) c.458-52589A>C (n.458-52589A>C) c.568T>G (p.Cys190Gly) c.418T>G (p.Cys140Gly) c.124T>G (p.Cys42Gly) c.163T>G (p.Cys55Gly) n.285T>G c.52T>G (p.Cys18Gly) | |
6 | g.106099415G>A | CA365146805 | ATG5,PRDM1 | c.527G>A (p.Cys176Tyr) c.458-21100C>T (n.458-21100C>T) c.458-52590C>T (n.458-52590C>T) c.569G>A (p.Cys190Tyr) c.419G>A (p.Cys140Tyr) c.125G>A (p.Cys42Tyr) c.164G>A (p.Cys55Tyr) n.286G>A c.53G>A (p.Cys18Tyr) | dbSNP |
6 | g.106099415G>C | CA365146806 | ATG5,PRDM1 | c.527G>C (p.Cys176Ser) c.458-21100C>G (n.458-21100C>G) c.458-52590C>G (n.458-52590C>G) c.569G>C (p.Cys190Ser) c.419G>C (p.Cys140Ser) c.125G>C (p.Cys42Ser) c.164G>C (p.Cys55Ser) n.286G>C c.53G>C (p.Cys18Ser) | |
6 | g.106099415G>T | CA365146807 | ATG5,PRDM1 | c.527G>T (p.Cys176Phe) c.458-21100C>A (n.458-21100C>A) c.458-52590C>A (n.458-52590C>A) c.569G>T (p.Cys190Phe) c.419G>T (p.Cys140Phe) c.125G>T (p.Cys42Phe) c.164G>T (p.Cys55Phe) n.286G>T c.53G>T (p.Cys18Phe) | |
6 | g.106099416T>A | CA365146808 | ATG5,PRDM1 | c.528T>A (p.Cys176Ter) c.458-21101A>T (n.458-21101A>T) c.458-52591A>T (n.458-52591A>T) c.570T>A (p.Cys190Ter) c.420T>A (p.Cys140Ter) c.126T>A (p.Cys42Ter) c.165T>A (p.Cys55Ter) n.287T>A c.54T>A (p.Cys18Ter) | dbSNP |
6 | g.106099416T>C | CA451576429 | ATG5,PRDM1 | c.528T>C (p.Cys176=) c.458-21101A>G (n.458-21101A>G) c.458-52591A>G (n.458-52591A>G) c.570T>C (p.Cys190=) c.420T>C (p.Cys140=) c.126T>C (p.Cys42=) c.165T>C (p.Cys55=) n.287T>C c.54T>C (p.Cys18=) | |
6 | g.106099416T>G | CA365146809 | ATG5,PRDM1 | c.528T>G (p.Cys176Trp) c.458-21101A>C (n.458-21101A>C) c.458-52591A>C (n.458-52591A>C) c.570T>G (p.Cys190Trp) c.420T>G (p.Cys140Trp) c.126T>G (p.Cys42Trp) c.165T>G (p.Cys55Trp) n.287T>G c.54T>G (p.Cys18Trp) | |
6 | g.106099417C>A | CA365146810 | ATG5,PRDM1 | c.529C>A (p.Gln177Lys) c.458-21102G>T (n.458-21102G>T) c.458-52592G>T (n.458-52592G>T) c.571C>A (p.Gln191Lys) c.421C>A (p.Gln141Lys) c.127C>A (p.Gln43Lys) c.166C>A (p.Gln56Lys) n.288C>A c.55C>A (p.Gln19Lys) | |
6 | g.106099417C>G | CA365146811 | ATG5,PRDM1 | c.529C>G (p.Gln177Glu) c.458-21102G>C (n.458-21102G>C) c.458-52592G>C (n.458-52592G>C) c.571C>G (p.Gln191Glu) c.421C>G (p.Gln141Glu) c.127C>G (p.Gln43Glu) c.166C>G (p.Gln56Glu) n.288C>G c.55C>G (p.Gln19Glu) | COSMIC |
6 | g.106099417C>T | CA365146812 | ATG5,PRDM1 | c.529C>T (p.Gln177Ter) c.458-21102G>A (n.458-21102G>A) c.458-52592G>A (n.458-52592G>A) c.571C>T (p.Gln191Ter) c.421C>T (p.Gln141Ter) c.127C>T (p.Gln43Ter) c.166C>T (p.Gln56Ter) n.288C>T c.55C>T (p.Gln19Ter) | |
6 | g.106099418A= | CA1653274727 | ATG5,PRDM1 | c.530A= (p.Gln177=) c.458-21103T= (n.458-21103T=) c.458-52593T= (n.458-52593T=) c.572A= (p.Gln191=) c.422A= (p.Gln141=) c.128A= (p.Gln43=) c.167A= (p.Gln56=) n.289A= c.56A= (p.Gln19=) | |
6 | g.106099418A>C | CA365146814 | ATG5,PRDM1 | c.530A>C (p.Gln177Pro) c.458-21103T>G (n.458-21103T>G) c.458-52593T>G (n.458-52593T>G) c.572A>C (p.Gln191Pro) c.422A>C (p.Gln141Pro) c.128A>C (p.Gln43Pro) c.167A>C (p.Gln56Pro) n.289A>C c.56A>C (p.Gln19Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.106099418A>G | CA365146815 | ATG5,PRDM1 | c.530A>G (p.Gln177Arg) c.458-21103T>C (n.458-21103T>C) c.458-52593T>C (n.458-52593T>C) c.572A>G (p.Gln191Arg) c.422A>G (p.Gln141Arg) c.128A>G (p.Gln43Arg) c.167A>G (p.Gln56Arg) n.289A>G c.56A>G (p.Gln19Arg) | |
6 | g.106099418A>T | CA365146813 | ATG5,PRDM1 | c.530A>T (p.Gln177Leu) c.458-21103T>A (n.458-21103T>A) c.458-52593T>A (n.458-52593T>A) c.572A>T (p.Gln191Leu) c.422A>T (p.Gln141Leu) c.128A>T (p.Gln43Leu) c.167A>T (p.Gln56Leu) n.289A>T c.56A>T (p.Gln19Leu) | |
6 | g.106099419G>A | CA451576430 | ATG5,PRDM1 | c.531G>A (p.Gln177=) c.458-21104C>T (n.458-21104C>T) c.458-52594C>T (n.458-52594C>T) c.573G>A (p.Gln191=) c.423G>A (p.Gln141=) c.129G>A (p.Gln43=) c.168G>A (p.Gln56=) n.290G>A c.57G>A (p.Gln19=) | dbSNP |
6 | g.106099419G>C | CA365146816 | ATG5,PRDM1 | c.531G>C (p.Gln177His) c.458-21104C>G (n.458-21104C>G) c.458-52594C>G (n.458-52594C>G) c.573G>C (p.Gln191His) c.423G>C (p.Gln141His) c.129G>C (p.Gln43His) c.168G>C (p.Gln56His) n.290G>C c.57G>C (p.Gln19His) | |
6 | g.106099419G>T | CA365146817 | ATG5,PRDM1 | c.531G>T (p.Gln177His) c.458-21104C>A (n.458-21104C>A) c.458-52594C>A (n.458-52594C>A) c.573G>T (p.Gln191His) c.423G>T (p.Gln141His) c.129G>T (p.Gln43His) c.168G>T (p.Gln56His) n.290G>T c.57G>T (p.Gln19His) | |
6 | g.106099420A>C | CA365146818 | ATG5,PRDM1 | c.532A>C (p.Asn178His) c.458-21105T>G (n.458-21105T>G) c.458-52595T>G (n.458-52595T>G) c.574A>C (p.Asn192His) c.424A>C (p.Asn142His) c.130A>C (p.Asn44His) c.169A>C (p.Asn57His) n.291A>C c.58A>C (p.Asn20His) | |
6 | g.106099420A>G | CA365146819 | ATG5,PRDM1 | c.532A>G (p.Asn178Asp) c.458-21105T>C (n.458-21105T>C) c.458-52595T>C (n.458-52595T>C) c.574A>G (p.Asn192Asp) c.424A>G (p.Asn142Asp) c.130A>G (p.Asn44Asp) c.169A>G (p.Asn57Asp) n.291A>G c.58A>G (p.Asn20Asp) | |
6 | g.106099420A>T | CA365146820 | ATG5,PRDM1 | c.532A>T (p.Asn178Tyr) c.458-21105T>A (n.458-21105T>A) c.458-52595T>A (n.458-52595T>A) c.574A>T (p.Asn192Tyr) c.424A>T (p.Asn142Tyr) c.130A>T (p.Asn44Tyr) c.169A>T (p.Asn57Tyr) n.291A>T c.58A>T (p.Asn20Tyr) | |
6 | g.106099421A>C | CA365146821 | ATG5,PRDM1 | c.533A>C (p.Asn178Thr) c.458-21106T>G (n.458-21106T>G) c.458-52596T>G (n.458-52596T>G) c.575A>C (p.Asn192Thr) c.425A>C (p.Asn142Thr) c.131A>C (p.Asn44Thr) c.170A>C (p.Asn57Thr) n.292A>C c.59A>C (p.Asn20Thr) | |
6 | g.106099421A>G | CA365146822 | ATG5,PRDM1 | c.533A>G (p.Asn178Ser) c.458-21106T>C (n.458-21106T>C) c.458-52596T>C (n.458-52596T>C) c.575A>G (p.Asn192Ser) c.425A>G (p.Asn142Ser) c.131A>G (p.Asn44Ser) c.170A>G (p.Asn57Ser) n.292A>G c.59A>G (p.Asn20Ser) | COSMIC COSMIC |
6 | g.106099421A>T | CA365146823 | ATG5,PRDM1 | c.533A>T (p.Asn178Ile) c.458-21106T>A (n.458-21106T>A) c.458-52596T>A (n.458-52596T>A) c.575A>T (p.Asn192Ile) c.425A>T (p.Asn142Ile) c.131A>T (p.Asn44Ile) c.170A>T (p.Asn57Ile) n.292A>T c.59A>T (p.Asn20Ile) | |
6 | g.106099422C>A | CA365146824 | ATG5,PRDM1 | c.534C>A (p.Asn178Lys) c.458-21107G>T (n.458-21107G>T) c.458-52597G>T (n.458-52597G>T) c.576C>A (p.Asn192Lys) c.426C>A (p.Asn142Lys) c.132C>A (p.Asn44Lys) c.171C>A (p.Asn57Lys) n.293C>A c.60C>A (p.Asn20Lys) | |
6 | g.106099422C= | CA1653274734 | ATG5,PRDM1 | c.534C= (p.Asn178=) c.458-21107G= (n.458-21107G=) c.458-52597G= (n.458-52597G=) c.576C= (p.Asn192=) c.426C= (p.Asn142=) c.132C= (p.Asn44=) c.171C= (p.Asn57=) n.293C= c.60C= (p.Asn20=) | |
6 | g.106099422C>G | CA365146825 | ATG5,PRDM1 | c.534C>G (p.Asn178Lys) c.458-21107G>C (n.458-21107G>C) c.458-52597G>C (n.458-52597G>C) c.576C>G (p.Asn192Lys) c.426C>G (p.Asn142Lys) c.132C>G (p.Asn44Lys) c.171C>G (p.Asn57Lys) n.293C>G c.60C>G (p.Asn20Lys) | |
6 | g.106099422C>T | CA3942164 | ATG5,PRDM1 | c.534C>T (p.Asn178=) c.458-21107G>A (n.458-21107G>A) c.458-52597G>A (n.458-52597G>A) c.576C>T (p.Asn192=) c.426C>T (p.Asn142=) c.132C>T (p.Asn44=) c.171C>T (p.Asn57=) n.293C>T c.60C>T (p.Asn20=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.106099423G>A | CA3942165 | ATG5,PRDM1 | c.535G>A (p.Gly179Arg) c.458-21108C>T (n.458-21108C>T) c.458-52598C>T (n.458-52598C>T) c.577G>A (p.Gly193Arg) c.427G>A (p.Gly143Arg) c.133G>A (p.Gly45Arg) c.172G>A (p.Gly58Arg) n.294G>A c.61G>A (p.Gly21Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.106099423G>C | CA365146827 | ATG5,PRDM1 | c.535G>C (p.Gly179Arg) c.458-21108C>G (n.458-21108C>G) c.458-52598C>G (n.458-52598C>G) c.577G>C (p.Gly193Arg) c.427G>C (p.Gly143Arg) c.133G>C (p.Gly45Arg) c.172G>C (p.Gly58Arg) n.294G>C c.61G>C (p.Gly21Arg) | gnomAD v4 |
6 | g.106099423G= | CA1653274739 | ATG5,PRDM1 | c.535G= (p.Gly179=) c.458-21108C= (n.458-21108C=) c.458-52598C= (n.458-52598C=) c.577G= (p.Gly193=) c.427G= (p.Gly143=) c.133G= (p.Gly45=) c.172G= (p.Gly58=) n.294G= c.61G= (p.Gly21=) | |
6 | g.106099423G>T | CA365146826 | ATG5,PRDM1 | c.535G>T (p.Gly179Trp) c.458-21108C>A (n.458-21108C>A) c.458-52598C>A (n.458-52598C>A) c.577G>T (p.Gly193Trp) c.427G>T (p.Gly143Trp) c.133G>T (p.Gly45Trp) c.172G>T (p.Gly58Trp) n.294G>T c.61G>T (p.Gly21Trp) | |
6 | g.106099424G>A | CA144944253 | ATG5,PRDM1 | c.536G>A (p.Gly179Glu) c.458-21109C>T (n.458-21109C>T) c.458-52599C>T (n.458-52599C>T) c.578G>A (p.Gly193Glu) c.428G>A (p.Gly143Glu) c.134G>A (p.Gly45Glu) c.173G>A (p.Gly58Glu) n.295G>A c.62G>A (p.Gly21Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.106099424G>C | CA365146828 | ATG5,PRDM1 | c.536G>C (p.Gly179Ala) c.458-21109C>G (n.458-21109C>G) c.458-52599C>G (n.458-52599C>G) c.578G>C (p.Gly193Ala) c.428G>C (p.Gly143Ala) c.134G>C (p.Gly45Ala) c.173G>C (p.Gly58Ala) n.295G>C c.62G>C (p.Gly21Ala) | |
6 | g.106099424G= | CA1653274743 | ATG5,PRDM1 | c.536G= (p.Gly179=) c.458-21109C= (n.458-21109C=) c.458-52599C= (n.458-52599C=) c.578G= (p.Gly193=) c.428G= (p.Gly143=) c.134G= (p.Gly45=) c.173G= (p.Gly58=) n.295G= c.62G= (p.Gly21=) | |
6 | g.106099424G>T | CA365146829 | ATG5,PRDM1 | c.536G>T (p.Gly179Val) c.458-21109C>A (n.458-21109C>A) c.458-52599C>A (n.458-52599C>A) c.578G>T (p.Gly193Val) c.428G>T (p.Gly143Val) c.134G>T (p.Gly45Val) c.173G>T (p.Gly58Val) n.295G>T c.62G>T (p.Gly21Val) | |
6 | g.106099425G>A | CA3942166 | ATG5,PRDM1 | c.537G>A (p.Gly179=) c.458-21110C>T (n.458-21110C>T) c.458-52600C>T (n.458-52600C>T) c.579G>A (p.Gly193=) c.429G>A (p.Gly143=) c.135G>A (p.Gly45=) c.174G>A (p.Gly58=) n.296G>A c.63G>A (p.Gly21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.106099425G>C | CA451576431 | ATG5,PRDM1 | c.537G>C (p.Gly179=) c.458-21110C>G (n.458-21110C>G) c.458-52600C>G (n.458-52600C>G) c.579G>C (p.Gly193=) c.429G>C (p.Gly143=) c.135G>C (p.Gly45=) c.174G>C (p.Gly58=) n.296G>C c.63G>C (p.Gly21=) | |
6 | g.106099425G= | CA1653274745 | ATG5,PRDM1 | c.537G= (p.Gly179=) c.458-21110C= (n.458-21110C=) c.458-52600C= (n.458-52600C=) c.579G= (p.Gly193=) c.429G= (p.Gly143=) c.135G= (p.Gly45=) c.174G= (p.Gly58=) n.296G= c.63G= (p.Gly21=) | |
6 | g.106099425G>T | CA451576432 | ATG5,PRDM1 | c.537G>T (p.Gly179=) c.458-21110C>A (n.458-21110C>A) c.458-52600C>A (n.458-52600C>A) c.579G>T (p.Gly193=) c.429G>T (p.Gly143=) c.135G>T (p.Gly45=) c.174G>T (p.Gly58=) n.296G>T c.63G>T (p.Gly21=) | |
6 | g.106099426A>C | CA365146830 | ATG5,PRDM1 | c.538A>C (p.Met180Leu) c.458-21111T>G (n.458-21111T>G) c.458-52601T>G (n.458-52601T>G) c.580A>C (p.Met194Leu) c.430A>C (p.Met144Leu) c.136A>C (p.Met46Leu) c.175A>C (p.Met59Leu) n.297A>C c.64A>C (p.Met22Leu) | |
6 | g.106099426A>G | CA365146831 | ATG5,PRDM1 | c.538A>G (p.Met180Val) c.458-21111T>C (n.458-21111T>C) c.458-52601T>C (n.458-52601T>C) c.580A>G (p.Met194Val) c.430A>G (p.Met144Val) c.136A>G (p.Met46Val) c.175A>G (p.Met59Val) n.297A>G c.64A>G (p.Met22Val) | dbSNP |
6 | g.106099426A>T | CA365146832 | ATG5,PRDM1 | c.538A>T (p.Met180Leu) c.458-21111T>A (n.458-21111T>A) c.458-52601T>A (n.458-52601T>A) c.580A>T (p.Met194Leu) c.430A>T (p.Met144Leu) c.136A>T (p.Met46Leu) c.175A>T (p.Met59Leu) n.297A>T c.64A>T (p.Met22Leu) | |
6 | g.106099427T>A | CA365146833 | ATG5,PRDM1 | c.539T>A (p.Met180Lys) c.458-21112A>T (n.458-21112A>T) c.458-52602A>T (n.458-52602A>T) c.581T>A (p.Met194Lys) c.431T>A (p.Met144Lys) c.137T>A (p.Met46Lys) c.176T>A (p.Met59Lys) n.298T>A c.65T>A (p.Met22Lys) | dbSNP gnomAD v2 |
6 | g.106099427T>C | CA365146834 | ATG5,PRDM1 | c.539T>C (p.Met180Thr) c.458-21112A>G (n.458-21112A>G) c.458-52602A>G (n.458-52602A>G) c.581T>C (p.Met194Thr) c.431T>C (p.Met144Thr) c.137T>C (p.Met46Thr) c.176T>C (p.Met59Thr) n.298T>C c.65T>C (p.Met22Thr) | |
6 | g.106099427T>G | CA365146835 | ATG5,PRDM1 | c.539T>G (p.Met180Arg) c.458-21112A>C (n.458-21112A>C) c.458-52602A>C (n.458-52602A>C) c.581T>G (p.Met194Arg) c.431T>G (p.Met144Arg) c.137T>G (p.Met46Arg) c.176T>G (p.Met59Arg) n.298T>G c.65T>G (p.Met22Arg) | |
6 | g.106099427T= | CA1653274751 | ATG5,PRDM1 | c.539T= (p.Met180=) c.458-21112A= (n.458-21112A=) c.458-52602A= (n.458-52602A=) c.581T= (p.Met194=) c.431T= (p.Met144=) c.137T= (p.Met46=) c.176T= (p.Met59=) n.298T= c.65T= (p.Met22=) | |
6 | g.106099428G>A | CA365146836 | ATG5,PRDM1 | c.540G>A (p.Met180Ile) c.458-21113C>T (n.458-21113C>T) c.458-52603C>T (n.458-52603C>T) c.582G>A (p.Met194Ile) c.432G>A (p.Met144Ile) c.138G>A (p.Met46Ile) c.177G>A (p.Met59Ile) n.299G>A c.66G>A (p.Met22Ile) | |
6 | g.106099428G>C | CA365146837 | ATG5,PRDM1 | c.540G>C (p.Met180Ile) c.458-21113C>G (n.458-21113C>G) c.458-52603C>G (n.458-52603C>G) c.582G>C (p.Met194Ile) c.432G>C (p.Met144Ile) c.138G>C (p.Met46Ile) c.177G>C (p.Met59Ile) n.299G>C c.66G>C (p.Met22Ile) | |
6 | g.106099428G>T | CA365146838 | ATG5,PRDM1 | c.540G>T (p.Met180Ile) c.458-21113C>A (n.458-21113C>A) c.458-52603C>A (n.458-52603C>A) c.582G>T (p.Met194Ile) c.432G>T (p.Met144Ile) c.138G>T (p.Met46Ile) c.177G>T (p.Met59Ile) n.299G>T c.66G>T (p.Met22Ile) | |
6 | g.106099429A>C | CA365146840 | ATG5,PRDM1 | c.541A>C (p.Asn181His) c.458-21114T>G (n.458-21114T>G) c.458-52604T>G (n.458-52604T>G) c.583A>C (p.Asn195His) c.433A>C (p.Asn145His) c.139A>C (p.Asn47His) c.178A>C (p.Asn60His) n.300A>C c.67A>C (p.Asn23His) | |
6 | g.106099429A>G | CA365146841 | ATG5,PRDM1 | c.541A>G (p.Asn181Asp) c.458-21114T>C (n.458-21114T>C) c.458-52604T>C (n.458-52604T>C) c.583A>G (p.Asn195Asp) c.433A>G (p.Asn145Asp) c.139A>G (p.Asn47Asp) c.178A>G (p.Asn60Asp) n.300A>G c.67A>G (p.Asn23Asp) | |
6 | g.106099429A>T | CA365146839 | ATG5,PRDM1 | c.541A>T (p.Asn181Tyr) c.458-21114T>A (n.458-21114T>A) c.458-52604T>A (n.458-52604T>A) c.583A>T (p.Asn195Tyr) c.433A>T (p.Asn145Tyr) c.139A>T (p.Asn47Tyr) c.178A>T (p.Asn60Tyr) n.300A>T c.67A>T (p.Asn23Tyr) | |
6 | g.106099430A>C | CA365146844 | ATG5,PRDM1 | c.542A>C (p.Asn181Thr) c.458-21115T>G (n.458-21115T>G) c.458-52605T>G (n.458-52605T>G) c.584A>C (p.Asn195Thr) c.434A>C (p.Asn145Thr) c.140A>C (p.Asn47Thr) c.179A>C (p.Asn60Thr) n.301A>C c.68A>C (p.Asn23Thr) | |
6 | g.106099430A>G | CA365146842 | ATG5,PRDM1 | c.542A>G (p.Asn181Ser) c.458-21115T>C (n.458-21115T>C) c.458-52605T>C (n.458-52605T>C) c.584A>G (p.Asn195Ser) c.434A>G (p.Asn145Ser) c.140A>G (p.Asn47Ser) c.179A>G (p.Asn60Ser) n.301A>G c.68A>G (p.Asn23Ser) | gnomAD v4 |
6 | g.106099430A>T | CA365146843 | ATG5,PRDM1 | c.542A>T (p.Asn181Ile) c.458-21115T>A (n.458-21115T>A) c.458-52605T>A (n.458-52605T>A) c.584A>T (p.Asn195Ile) c.434A>T (p.Asn145Ile) c.140A>T (p.Asn47Ile) c.179A>T (p.Asn60Ile) n.301A>T c.68A>T (p.Asn23Ile) | |
6 | g.106099431C>A | CA365146845 | ATG5,PRDM1 | c.543C>A (p.Asn181Lys) c.458-21116G>T (n.458-21116G>T) c.458-52606G>T (n.458-52606G>T) c.585C>A (p.Asn195Lys) c.435C>A (p.Asn145Lys) c.141C>A (p.Asn47Lys) c.180C>A (p.Asn60Lys) n.302C>A c.69C>A (p.Asn23Lys) | dbSNP gnomAD v2 |
6 | g.106099431C= | CA1653274755 | ATG5,PRDM1 | c.543C= (p.Asn181=) c.458-21116G= (n.458-21116G=) c.458-52606G= (n.458-52606G=) c.585C= (p.Asn195=) c.435C= (p.Asn145=) c.141C= (p.Asn47=) c.180C= (p.Asn60=) n.302C= c.69C= (p.Asn23=) | |
6 | g.106099431C>G | CA365146846 | ATG5,PRDM1 | c.543C>G (p.Asn181Lys) c.458-21116G>C (n.458-21116G>C) c.458-52606G>C (n.458-52606G>C) c.585C>G (p.Asn195Lys) c.435C>G (p.Asn145Lys) c.141C>G (p.Asn47Lys) c.180C>G (p.Asn60Lys) n.302C>G c.69C>G (p.Asn23Lys) | |
6 | g.106099431C>T | CA451576433 | ATG5,PRDM1 | c.543C>T (p.Asn181=) c.458-21116G>A (n.458-21116G>A) c.458-52606G>A (n.458-52606G>A) c.585C>T (p.Asn195=) c.435C>T (p.Asn145=) c.141C>T (p.Asn47=) c.180C>T (p.Asn60=) n.302C>T c.69C>T (p.Asn23=) | |
6 | g.106099432A>C | CA365146847 | ATG5,PRDM1 | c.544A>C (p.Ile182Leu) c.458-21117T>G (n.458-21117T>G) c.458-52607T>G (n.458-52607T>G) c.586A>C (p.Ile196Leu) c.436A>C (p.Ile146Leu) c.142A>C (p.Ile48Leu) c.181A>C (p.Ile61Leu) n.303A>C c.70A>C (p.Ile24Leu) | |
6 | g.106099432A>G | CA365146848 | ATG5,PRDM1 | c.544A>G (p.Ile182Val) c.458-21117T>C (n.458-21117T>C) c.458-52607T>C (n.458-52607T>C) c.586A>G (p.Ile196Val) c.436A>G (p.Ile146Val) c.142A>G (p.Ile48Val) c.181A>G (p.Ile61Val) n.303A>G c.70A>G (p.Ile24Val) | gnomAD v4 |
6 | g.106099432A>T | CA365146849 | ATG5,PRDM1 | c.544A>T (p.Ile182Phe) c.458-21117T>A (n.458-21117T>A) c.458-52607T>A (n.458-52607T>A) c.586A>T (p.Ile196Phe) c.436A>T (p.Ile146Phe) c.142A>T (p.Ile48Phe) c.181A>T (p.Ile61Phe) n.303A>T c.70A>T (p.Ile24Phe) | |
6 | g.106099433T>A | CA365146850 | ATG5,PRDM1 | c.545T>A (p.Ile182Asn) c.458-21118A>T (n.458-21118A>T) c.458-52608A>T (n.458-52608A>T) c.587T>A (p.Ile196Asn) c.437T>A (p.Ile146Asn) c.143T>A (p.Ile48Asn) c.182T>A (p.Ile61Asn) n.304T>A c.71T>A (p.Ile24Asn) | gnomAD v4 |
6 | g.106099433T>C | CA365146851 | ATG5,PRDM1 | c.545T>C (p.Ile182Thr) c.458-21118A>G (n.458-21118A>G) c.458-52608A>G (n.458-52608A>G) c.587T>C (p.Ile196Thr) c.437T>C (p.Ile146Thr) c.143T>C (p.Ile48Thr) c.182T>C (p.Ile61Thr) n.304T>C c.71T>C (p.Ile24Thr) | |
6 | g.106099433T>G | CA365146852 | ATG5,PRDM1 | c.545T>G (p.Ile182Ser) c.458-21118A>C (n.458-21118A>C) c.458-52608A>C (n.458-52608A>C) c.587T>G (p.Ile196Ser) c.437T>G (p.Ile146Ser) c.143T>G (p.Ile48Ser) c.182T>G (p.Ile61Ser) n.304T>G c.71T>G (p.Ile24Ser) | dbSNP gnomAD v2 |
6 | g.106099433T= | CA1653274758 | ATG5,PRDM1 | c.545T= (p.Ile182=) c.458-21118A= (n.458-21118A=) c.458-52608A= (n.458-52608A=) c.587T= (p.Ile196=) c.437T= (p.Ile146=) c.143T= (p.Ile48=) c.182T= (p.Ile61=) n.304T= c.71T= (p.Ile24=) | |
6 | g.106099434C>A | CA451576434 | ATG5,PRDM1 | c.546C>A (p.Ile182=) c.458-21119G>T (n.458-21119G>T) c.458-52609G>T (n.458-52609G>T) c.588C>A (p.Ile196=) c.438C>A (p.Ile146=) c.144C>A (p.Ile48=) c.183C>A (p.Ile61=) n.305C>A c.72C>A (p.Ile24=) | |
6 | g.106099434C= | CA1653274763 | ATG5,PRDM1 | c.546C= (p.Ile182=) c.458-21119G= (n.458-21119G=) c.458-52609G= (n.458-52609G=) c.588C= (p.Ile196=) c.438C= (p.Ile146=) c.144C= (p.Ile48=) c.183C= (p.Ile61=) n.305C= c.72C= (p.Ile24=) | |
6 | g.106099434C>G | CA365146853 | ATG5,PRDM1 | c.546C>G (p.Ile182Met) c.458-21119G>C (n.458-21119G>C) c.458-52609G>C (n.458-52609G>C) c.588C>G (p.Ile196Met) c.438C>G (p.Ile146Met) c.144C>G (p.Ile48Met) c.183C>G (p.Ile61Met) n.305C>G c.72C>G (p.Ile24Met) | dbSNP |
6 | g.106099434C>T | CA451576435 | ATG5,PRDM1 | c.546C>T (p.Ile182=) c.458-21119G>A (n.458-21119G>A) c.458-52609G>A (n.458-52609G>A) c.588C>T (p.Ile196=) c.438C>T (p.Ile146=) c.144C>T (p.Ile48=) c.183C>T (p.Ile61=) n.305C>T c.72C>T (p.Ile24=) | |
6 | g.106099435T>A | CA365146856 | ATG5,PRDM1 | c.547T>A (p.Tyr183Asn) c.458-21120A>T (n.458-21120A>T) c.458-52610A>T (n.458-52610A>T) c.589T>A (p.Tyr197Asn) c.439T>A (p.Tyr147Asn) c.145T>A (p.Tyr49Asn) c.184T>A (p.Tyr62Asn) n.306T>A c.73T>A (p.Tyr25Asn) | |
6 | g.106099435T>C | CA365146855 | ATG5,PRDM1 | c.547T>C (p.Tyr183His) c.458-21120A>G (n.458-21120A>G) c.458-52610A>G (n.458-52610A>G) c.589T>C (p.Tyr197His) c.439T>C (p.Tyr147His) c.145T>C (p.Tyr49His) c.184T>C (p.Tyr62His) n.306T>C c.73T>C (p.Tyr25His) | |
6 | g.106099435T>G | CA365146854 | ATG5,PRDM1 | c.547T>G (p.Tyr183Asp) c.458-21120A>C (n.458-21120A>C) c.458-52610A>C (n.458-52610A>C) c.589T>G (p.Tyr197Asp) c.439T>G (p.Tyr147Asp) c.145T>G (p.Tyr49Asp) c.184T>G (p.Tyr62Asp) n.306T>G c.73T>G (p.Tyr25Asp) | |
6 | g.106099436A>C | CA365146857 | ATG5,PRDM1 | c.548A>C (p.Tyr183Ser) c.458-21121T>G (n.458-21121T>G) c.458-52611T>G (n.458-52611T>G) c.590A>C (p.Tyr197Ser) c.440A>C (p.Tyr147Ser) c.146A>C (p.Tyr49Ser) c.185A>C (p.Tyr62Ser) n.307A>C c.74A>C (p.Tyr25Ser) | |
6 | g.106099436A>G | CA365146858 | ATG5,PRDM1 | c.548A>G (p.Tyr183Cys) c.458-21121T>C (n.458-21121T>C) c.458-52611T>C (n.458-52611T>C) c.590A>G (p.Tyr197Cys) c.440A>G (p.Tyr147Cys) c.146A>G (p.Tyr49Cys) c.185A>G (p.Tyr62Cys) n.307A>G c.74A>G (p.Tyr25Cys) | gnomAD v4 |
6 | g.106099436A>T | CA365146859 | ATG5,PRDM1 | c.548A>T (p.Tyr183Phe) c.458-21121T>A (n.458-21121T>A) c.458-52611T>A (n.458-52611T>A) c.590A>T (p.Tyr197Phe) c.440A>T (p.Tyr147Phe) c.146A>T (p.Tyr49Phe) c.185A>T (p.Tyr62Phe) n.307A>T c.74A>T (p.Tyr25Phe) |