Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.970929_970990del | CA2669481948 | DGKQ | c.351+6_351+67del (n.351+6_351+67del) c.191+6_191+67del c.126+6_126+67del (n.126+6_126+67del) n.414+6_414+67del | gnomAD v4 |
4 | g.970955del | CA2578013634 | DGKQ | c.351+42del (n.351+42del) c.191+42del c.126+42del (n.126+42del) n.414+42del | gnomAD v4 |
4 | g.970955C>A | CA2578013635 | DGKQ | c.351+38G>T (n.351+38G>T) c.191+38G>T c.126+38G>T (n.126+38G>T) n.414+38G>T | |
4 | g.970955C>T | CA2669481997 | DGKQ | c.351+38G>A (n.351+38G>A) c.191+38G>A c.126+38G>A (n.126+38G>A) n.414+38G>A | gnomAD v4 |
4 | g.970957G>A | CA549144561 | DGKQ | c.351+36C>T (n.351+36C>T) c.191+36C>T c.126+36C>T (n.126+36C>T) n.414+36C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.970957G= | CA1433035916 | DGKQ | c.351+36C= (n.351+36C=) c.191+36C= c.126+36C= (n.126+36C=) n.414+36C= | |
4 | g.970957G>T | CA2800996 | DGKQ | c.351+36C>A (n.351+36C>A) c.191+36C>A c.126+36C>A (n.126+36C>A) n.414+36C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.970958C>A | CA2800997 | DGKQ | c.351+35G>T (n.351+35G>T) c.191+35G>T c.126+35G>T (n.126+35G>T) n.414+35G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970958C= | CA1433035921 | DGKQ | c.351+35G= (n.351+35G=) c.191+35G= c.126+35G= (n.126+35G=) n.414+35G= | |
4 | g.970958C>T | CA91138445 | DGKQ | c.351+35G>A (n.351+35G>A) c.191+35G>A c.126+35G>A (n.126+35G>A) n.414+35G>A | dbSNP gnomAD v4 |
4 | g.970959C>A | CA2669482003 | DGKQ | c.351+34G>T (n.351+34G>T) c.191+34G>T c.126+34G>T (n.126+34G>T) n.414+34G>T | gnomAD v4 |
4 | g.970959C>T | CA2669482004 | DGKQ | c.351+34G>A (n.351+34G>A) c.191+34G>A c.126+34G>A (n.126+34G>A) n.414+34G>A | gnomAD v4 |
4 | g.970960T>A | CA2669482005 | DGKQ | c.351+33A>T (n.351+33A>T) c.191+33A>T c.126+33A>T (n.126+33A>T) n.414+33A>T | gnomAD v4 |
4 | g.970962T>C | CA549144569 | DGKQ | c.351+31A>G (n.351+31A>G) c.191+31A>G c.126+31A>G (n.126+31A>G) n.414+31A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.970962T= | CA1433035924 | DGKQ | c.351+31A= (n.351+31A=) c.191+31A= c.126+31A= (n.126+31A=) n.414+31A= | |
4 | g.970963T>G | CA2669482009 | DGKQ | c.351+30A>C (n.351+30A>C) c.191+30A>C c.126+30A>C (n.126+30A>C) n.414+30A>C | gnomAD v4 |
4 | g.970964G>T | CA2578013636 | DGKQ | c.351+29C>A (n.351+29C>A) c.191+29C>A c.126+29C>A (n.126+29C>A) n.414+29C>A | gnomAD v4 |
4 | g.970965C>A | CA2669482011 | DGKQ | c.351+28G>T (n.351+28G>T) c.191+28G>T c.126+28G>T (n.126+28G>T) n.414+28G>T | dbSNP gnomAD v4 |
4 | g.970965C>T | CA2669482012 | DGKQ | c.351+28G>A (n.351+28G>A) c.191+28G>A c.126+28G>A (n.126+28G>A) n.414+28G>A | gnomAD v4 |
4 | g.970966A>G | CA2669482014 | DGKQ | c.351+27T>C (n.351+27T>C) c.191+27T>C c.126+27T>C (n.126+27T>C) n.414+27T>C | gnomAD v4 |
4 | g.970966A>T | CA2669482015 | DGKQ | c.351+27T>A (n.351+27T>A) c.191+27T>A c.126+27T>A (n.126+27T>A) n.414+27T>A | gnomAD v4 |
4 | g.970967G>A | CA549144571 | DGKQ | c.351+26C>T (n.351+26C>T) c.191+26C>T c.126+26C>T (n.126+26C>T) n.414+26C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.970967G>C | CA549144574 | DGKQ | c.351+26C>G (n.351+26C>G) c.191+26C>G c.126+26C>G (n.126+26C>G) n.414+26C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970967G= | CA1433035926 | DGKQ | c.351+26C= (n.351+26C=) c.191+26C= c.126+26C= (n.126+26C=) n.414+26C= | |
4 | g.970967G>T | CA2669482018 | DGKQ | c.351+26C>A (n.351+26C>A) c.191+26C>A c.126+26C>A (n.126+26C>A) n.414+26C>A | gnomAD v4 |
4 | g.970968G>A | CA800428149 | DGKQ | c.351+25C>T (n.351+25C>T) c.191+25C>T c.126+25C>T (n.126+25C>T) n.414+25C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.970968G= | CA1433035928 | DGKQ | c.351+25C= (n.351+25C=) c.191+25C= c.126+25C= (n.126+25C=) n.414+25C= | |
4 | g.970968G>T | CA2669482019 | DGKQ | c.351+25C>A (n.351+25C>A) c.191+25C>A c.126+25C>A (n.126+25C>A) n.414+25C>A | gnomAD v4 |
4 | g.970969del | CA2578013637 | DGKQ | c.351+24del (n.351+24del) c.191+24del c.126+24del (n.126+24del) n.414+24del | |
4 | g.970970del | CA2578013638 | DGKQ | c.351+23del (n.351+23del) c.191+23del c.126+23del (n.126+23del) n.414+23del | |
4 | g.970970G>A | CA2800998 | DGKQ | c.351+23C>T (n.351+23C>T) c.191+23C>T c.126+23C>T (n.126+23C>T) n.414+23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970970G= | CA1433035932 | DGKQ | c.351+23C= (n.351+23C=) c.191+23C= c.126+23C= (n.126+23C=) n.414+23C= | |
4 | g.970970G>T | CA2669482022 | DGKQ | c.351+23C>A (n.351+23C>A) c.191+23C>A c.126+23C>A (n.126+23C>A) n.414+23C>A | gnomAD v4 |
4 | g.970971C= | CA1433035938 | DGKQ | c.351+22G= (n.351+22G=) c.191+22G= c.126+22G= (n.126+22G=) n.414+22G= | |
4 | g.970971C>G | CA91138448 | DGKQ | c.351+22G>C (n.351+22G>C) c.191+22G>C c.126+22G>C (n.126+22G>C) n.414+22G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970971C>T | CA2578013639 | DGKQ | c.351+22G>A (n.351+22G>A) c.191+22G>A c.126+22G>A (n.126+22G>A) n.414+22G>A | gnomAD v4 |
4 | g.970972A>G | CA2669482027 | DGKQ | c.351+21T>C (n.351+21T>C) c.191+21T>C c.126+21T>C (n.126+21T>C) n.414+21T>C | gnomAD v4 |
4 | g.970973A>G | CA2669482028 | DGKQ | c.351+20T>C (n.351+20T>C) c.191+20T>C c.126+20T>C (n.126+20T>C) n.414+20T>C | gnomAD v4 |
4 | g.970974C>A | CA2578013640 | DGKQ | c.351+19G>T (n.351+19G>T) c.191+19G>T c.126+19G>T (n.126+19G>T) n.414+19G>T | gnomAD v4 |
4 | g.970974C>T | CA2669482031 | DGKQ | c.351+19G>A (n.351+19G>A) c.191+19G>A c.126+19G>A (n.126+19G>A) n.414+19G>A | gnomAD v4 |
4 | g.970976C>A | CA2669482033 | DGKQ | c.351+17G>T (n.351+17G>T) c.191+17G>T c.126+17G>T (n.126+17G>T) n.414+17G>T | gnomAD v4 |
4 | g.970976C>T | CA2669482034 | DGKQ | c.351+17G>A (n.351+17G>A) c.191+17G>A c.126+17G>A (n.126+17G>A) n.414+17G>A | gnomAD v4 |
4 | g.970977C>A | CA2669482037 | DGKQ | c.351+16G>T (n.351+16G>T) c.191+16G>T c.126+16G>T (n.126+16G>T) n.414+16G>T | gnomAD v4 |
4 | g.970977C= | CA1433035940 | DGKQ | c.351+16G= (n.351+16G=) c.191+16G= c.126+16G= (n.126+16G=) n.414+16G= | |
4 | g.970977C>T | CA1433035941 | DGKQ | c.351+16G>A (n.351+16G>A) c.191+16G>A c.126+16G>A (n.126+16G>A) n.414+16G>A | dbSNP gnomAD v4 |
4 | g.970978C>A | CA2669482041 | DGKQ | c.351+15G>T (n.351+15G>T) c.191+15G>T c.126+15G>T (n.126+15G>T) n.414+15G>T | gnomAD v4 |
4 | g.970978C= | CA1433035942 | DGKQ | c.351+15G= (n.351+15G=) c.191+15G= c.126+15G= (n.126+15G=) n.414+15G= | |
4 | g.970978C>G | CA549144582 | DGKQ | c.351+15G>C (n.351+15G>C) c.191+15G>C c.126+15G>C (n.126+15G>C) n.414+15G>C | dbSNP gnomAD v2 |
4 | g.970978C>T | CA549144584 | DGKQ | c.351+15G>A (n.351+15G>A) c.191+15G>A c.126+15G>A (n.126+15G>A) n.414+15G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.970980G>A | CA2800999 | DGKQ | c.351+13C>T (n.351+13C>T) c.191+13C>T c.126+13C>T (n.126+13C>T) n.414+13C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970980G= | CA1433035945 | DGKQ | c.351+13C= (n.351+13C=) c.191+13C= c.126+13C= (n.126+13C=) n.414+13C= | |
4 | g.970980G>T | CA2669482044 | DGKQ | c.351+13C>A (n.351+13C>A) c.191+13C>A c.126+13C>A (n.126+13C>A) n.414+13C>A | gnomAD v4 |
4 | g.970981C>G | CA2669482045 | DGKQ | c.351+12G>C (n.351+12G>C) c.191+12G>C c.126+12G>C (n.126+12G>C) n.414+12G>C | gnomAD v4 |
4 | g.970981C>T | CA2669482046 | DGKQ | c.351+12G>A (n.351+12G>A) c.191+12G>A c.126+12G>A (n.126+12G>A) n.414+12G>A | gnomAD v4 |
4 | g.970984del | CA2591009525 | DGKQ | c.351+12del (n.351+12del) c.191+12del c.126+12del (n.126+12del) n.414+12del | gnomAD v3 gnomAD v4 |
4 | g.970982C>A | CA2669482051 | DGKQ | c.351+11G>T (n.351+11G>T) c.191+11G>T c.126+11G>T (n.126+11G>T) n.414+11G>T | gnomAD v4 |
4 | g.970982C= | CA1433035948 | DGKQ | c.351+11G= (n.351+11G=) c.191+11G= c.126+11G= (n.126+11G=) n.414+11G= | |
4 | g.970982C>T | CA549144592 | DGKQ | c.351+11G>A (n.351+11G>A) c.191+11G>A c.126+11G>A (n.126+11G>A) n.414+11G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.970983C>A | CA2669482052 | DGKQ | c.351+10G>T (n.351+10G>T) c.191+10G>T c.126+10G>T (n.126+10G>T) n.414+10G>T | gnomAD v4 |
4 | g.970983C>T | CA2669482054 | DGKQ | c.351+10G>A (n.351+10G>A) c.191+10G>A c.126+10G>A (n.126+10G>A) n.414+10G>A | gnomAD v4 |
4 | g.970984C>A | CA2669482056 | DGKQ | c.351+9G>T (n.351+9G>T) c.191+9G>T c.126+9G>T (n.126+9G>T) n.414+9G>T | gnomAD v4 |
4 | g.970984C= | CA1433035950 | DGKQ | c.351+9G= (n.351+9G=) c.191+9G= c.126+9G= (n.126+9G=) n.414+9G= | |
4 | g.970984C>G | CA2801000 | DGKQ | c.351+9G>C (n.351+9G>C) c.191+9G>C c.126+9G>C (n.126+9G>C) n.414+9G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970984C>T | CA2578013641 | DGKQ | c.351+9G>A (n.351+9G>A) c.191+9G>A c.126+9G>A (n.126+9G>A) n.414+9G>A | |
4 | g.970985A= | CA1433035951 | DGKQ | c.351+8T= (n.351+8T=) c.191+8T= c.126+8T= (n.126+8T=) n.414+8T= | |
4 | g.970985A>G | CA549144596 | DGKQ | c.351+8T>C (n.351+8T>C) c.191+8T>C c.126+8T>C (n.126+8T>C) n.414+8T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970987A= | CA1433035953 | DGKQ | c.351+6T= (n.351+6T=) c.191+6T= c.126+6T= (n.126+6T=) n.414+6T= | |
4 | g.970987A>C | CA549144599 | DGKQ | c.351+6T>G (n.351+6T>G) c.191+6T>G c.126+6T>G (n.126+6T>G) n.414+6T>G | dbSNP gnomAD v2 |
4 | g.970988C>A | CA2669482061 | DGKQ | c.351+5G>T (n.351+5G>T) c.191+5G>T c.126+5G>T (n.126+5G>T) n.414+5G>T | gnomAD v4 |
4 | g.970988C>G | CA2669482062 | DGKQ | c.351+5G>C (n.351+5G>C) c.191+5G>C c.126+5G>C (n.126+5G>C) n.414+5G>C | gnomAD v4 |
4 | g.970988C>T | CA2669482063 | DGKQ | c.351+5G>A (n.351+5G>A) c.191+5G>A c.126+5G>A (n.126+5G>A) n.414+5G>A | gnomAD v4 |
4 | g.970989T>C | CA2669482064 | DGKQ | c.351+4A>G (n.351+4A>G) c.191+4A>G c.126+4A>G (n.126+4A>G) n.414+4A>G | gnomAD v4 |
4 | g.970990C>A | CA2669482065 | DGKQ | c.351+3G>T (n.351+3G>T) c.191+3G>T c.126+3G>T (n.126+3G>T) n.414+3G>T | gnomAD v4 |
4 | g.970990C>T | CA2669482066 | DGKQ | c.351+3G>A (n.351+3G>A) c.191+3G>A c.126+3G>A (n.126+3G>A) n.414+3G>A | gnomAD v4 |
4 | g.970991A>C | CA355941582 | DGKQ | c.351+2T>G (n.351+2T>G) c.191+2T>G c.126+2T>G (n.126+2T>G) n.414+2T>G | |
4 | g.970991A>G | CA355941583 | DGKQ | c.351+2T>C (n.351+2T>C) c.191+2T>C c.126+2T>C (n.126+2T>C) n.414+2T>C | |
4 | g.970991A>T | CA355941584 | DGKQ | c.351+2T>A (n.351+2T>A) c.191+2T>A c.126+2T>A (n.126+2T>A) n.414+2T>A | |
4 | g.970992C>A | CA355941585 | DGKQ | c.351+1G>T (n.351+1G>T) c.191+1G>T c.126+1G>T (n.126+1G>T) n.414+1G>T | |
4 | g.970992C>G | CA355941586 | DGKQ | c.351+1G>C (n.351+1G>C) c.191+1G>C c.126+1G>C (n.126+1G>C) n.414+1G>C | |
4 | g.970992C>T | CA355941587 | DGKQ | c.351+1G>A (n.351+1G>A) c.191+1G>A c.126+1G>A (n.126+1G>A) n.414+1G>A | gnomAD v4 |
4 | g.970993C>A | CA437908050 | DGKQ | c.351G>T (p.Arg117=) c.191G>T c.126G>T (p.Arg42=) n.414G>T | |
4 | g.970993C>G | CA437908049 | DGKQ | c.351G>C (p.Arg117=) c.191G>C c.126G>C (p.Arg42=) n.414G>C | |
4 | g.970993C>T | CA437908051 | DGKQ | c.351G>A (p.Arg117=) c.191G>A c.126G>A (p.Arg42=) n.414G>A | |
4 | g.970994C>A | CA355941588 | DGKQ | c.350G>T (p.Arg117Leu) c.190G>T c.125G>T (p.Arg42Leu) n.413G>T | gnomAD v4 |
4 | g.970994C= | CA1433035959 | DGKQ | c.350G= (p.Arg117=) c.190G= c.125G= (p.Arg42=) n.413G= | |
4 | g.970994C>G | CA355941589 | DGKQ | c.350G>C (p.Arg117Pro) c.190G>C c.125G>C (p.Arg42Pro) n.413G>C | dbSNP gnomAD v4 |
4 | g.970994C>T | CA2801001 | DGKQ | c.350G>A (p.Arg117Gln) c.190G>A c.125G>A (p.Arg42Gln) n.413G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970995G>A | CA2801002 | DGKQ | c.349C>T (p.Arg117Trp) c.189C>T c.124C>T (p.Arg42Trp) n.412C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970995G>C | CA355941590 | DGKQ | c.349C>G (p.Arg117Gly) c.189C>G c.124C>G (p.Arg42Gly) n.412C>G | |
4 | g.970995G= | CA1433035962 | DGKQ | c.349C= (p.Arg117=) c.189C= c.124C= (p.Arg42=) n.412C= | |
4 | g.970995G>T | CA437908052 | DGKQ | c.349C>A (p.Arg117=) c.189C>A c.124C>A (p.Arg42=) n.412C>A | |
4 | g.970996G>A | CA437908053 | DGKQ | c.348C>T (p.Val116=) c.188C>T c.123C>T (p.Val41=) n.411C>T | |
4 | g.970996G>C | CA437908054 | DGKQ | c.348C>G (p.Val116=) c.188C>G c.123C>G (p.Val41=) n.411C>G | |
4 | g.970996G>T | CA437908055 | DGKQ | c.348C>A (p.Val116=) c.188C>A c.123C>A (p.Val41=) n.411C>A | gnomAD v4 |
4 | g.970997A>C | CA355941591 | DGKQ | c.347T>G (p.Val116Gly) c.187T>G c.122T>G (p.Val41Gly) n.410T>G | |
4 | g.970997A>G | CA355941593 | DGKQ | c.347T>C (p.Val116Ala) c.187T>C c.122T>C (p.Val41Ala) n.410T>C | |
4 | g.970997A>T | CA355941592 | DGKQ | c.347T>A (p.Val116Asp) c.187T>A c.122T>A (p.Val41Asp) n.410T>A | |
4 | g.970998C>A | CA355941594 | DGKQ | c.346G>T (p.Val116Phe) c.186G>T c.121G>T (p.Val41Phe) n.409G>T | gnomAD v4 COSMIC |
4 | g.970998C= | CA1433035967 | DGKQ | c.346G= (p.Val116=) c.186G= c.121G= (p.Val41=) n.409G= | |
4 | g.970998C>G | CA355941595 | DGKQ | c.346G>C (p.Val116Leu) c.186G>C c.121G>C (p.Val41Leu) n.409G>C | |
4 | g.970998C>T | CA355941596 | DGKQ | c.346G>A (p.Val116Ile) c.186G>A c.121G>A (p.Val41Ile) n.409G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.970999C>A | CA437908056 | DGKQ | c.345G>T (p.Leu115=) c.185G>T c.120G>T (p.Leu40=) n.408G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.970999C= | CA1433035969 | DGKQ | c.345G= (p.Leu115=) c.185G= c.120G= (p.Leu40=) n.408G= | |
4 | g.970999C>G | CA437908057 | DGKQ | c.345G>C (p.Leu115=) c.185G>C c.120G>C (p.Leu40=) n.408G>C | |
4 | g.970999C>T | CA437908058 | DGKQ | c.345G>A (p.Leu115=) c.185G>A c.120G>A (p.Leu40=) n.408G>A | |
4 | g.971000A>C | CA355941597 | DGKQ | c.344T>G (p.Leu115Arg) c.184T>G c.119T>G (p.Leu40Arg) n.407T>G | |
4 | g.971000A>G | CA355941598 | DGKQ | c.344T>C (p.Leu115Pro) c.184T>C c.119T>C (p.Leu40Pro) n.407T>C | gnomAD v4 |
4 | g.971000A>T | CA355941599 | DGKQ | c.344T>A (p.Leu115Gln) c.184T>A c.119T>A (p.Leu40Gln) n.407T>A | |
4 | g.971001G>A | CA437908059 | DGKQ | c.343C>T (p.Leu115=) c.183C>T c.118C>T (p.Leu40=) n.406C>T | |
4 | g.971001G>C | CA355941600 | DGKQ | c.343C>G (p.Leu115Val) c.183C>G c.118C>G (p.Leu40Val) n.406C>G | gnomAD v4 |
4 | g.971001G>T | CA355941601 | DGKQ | c.343C>A (p.Leu115Met) c.183C>A c.118C>A (p.Leu40Met) n.406C>A | gnomAD v4 |
4 | g.971002G>A | CA437908060 | DGKQ | c.342C>T (p.Ser114=) c.182C>T c.117C>T (p.Ser39=) n.405C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971002G>C | CA355941602 | DGKQ | c.342C>G (p.Ser114Arg) c.182C>G c.117C>G (p.Ser39Arg) n.405C>G | |
4 | g.971002G= | CA1433035971 | DGKQ | c.342C= (p.Ser114=) c.182C= c.117C= (p.Ser39=) n.405C= | |
4 | g.971002G>T | CA355941603 | DGKQ | c.342C>A (p.Ser114Arg) c.182C>A c.117C>A (p.Ser39Arg) n.405C>A | gnomAD v4 |
4 | g.971003C>A | CA355941604 | DGKQ | c.341G>T (p.Ser114Ile) c.181G>T c.116G>T (p.Ser39Ile) n.404G>T | gnomAD v4 |
4 | g.971003C>G | CA355941605 | DGKQ | c.341G>C (p.Ser114Thr) c.181G>C c.116G>C (p.Ser39Thr) n.404G>C | |
4 | g.971003C>T | CA355941606 | DGKQ | c.341G>A (p.Ser114Asn) c.181G>A c.116G>A (p.Ser39Asn) n.404G>A | |
4 | g.971004T>A | CA355941609 | DGKQ | c.340A>T (p.Ser114Cys) c.180A>T c.115A>T (p.Ser39Cys) n.403A>T | |
4 | g.971004T>C | CA355941608 | DGKQ | c.340A>G (p.Ser114Gly) c.180A>G c.115A>G (p.Ser39Gly) n.403A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971004T>G | CA355941607 | DGKQ | c.340A>C (p.Ser114Arg) c.180A>C c.115A>C (p.Ser39Arg) n.403A>C | |
4 | g.971004T= | CA1433035972 | DGKQ | c.340A= (p.Ser114=) c.180A= c.115A= (p.Ser39=) n.403A= | |
4 | g.971005G>A | CA437908061 | DGKQ | c.339C>T (p.Pro113=) c.179C>T c.114C>T (p.Pro38=) n.402C>T | gnomAD v4 |
4 | g.971005G>C | CA437908063 | DGKQ | c.339C>G (p.Pro113=) c.179C>G c.114C>G (p.Pro38=) n.402C>G | |
4 | g.971005G>T | CA437908062 | DGKQ | c.339C>A (p.Pro113=) c.179C>A c.114C>A (p.Pro38=) n.402C>A | gnomAD v4 |
4 | g.971006G>A | CA355941610 | DGKQ | c.338C>T (p.Pro113Leu) c.178C>T c.113C>T (p.Pro38Leu) n.401C>T | gnomAD v4 |
4 | g.971006G>C | CA355941611 | DGKQ | c.338C>G (p.Pro113Arg) c.178C>G c.113C>G (p.Pro38Arg) n.401C>G | |
4 | g.971006G= | CA1433035975 | DGKQ | c.338C= (p.Pro113=) c.178C= c.113C= (p.Pro38=) n.401C= | |
4 | g.971006G>T | CA355941612 | DGKQ | c.338C>A (p.Pro113His) c.178C>A c.113C>A (p.Pro38His) n.401C>A | dbSNP gnomAD v4 |
4 | g.971007G>A | CA355941613 | DGKQ | c.337C>T (p.Pro113Ser) c.177C>T c.112C>T (p.Pro38Ser) n.400C>T | gnomAD v4 |
4 | g.971007G>C | CA355941614 | DGKQ | c.337C>G (p.Pro113Ala) c.177C>G c.112C>G (p.Pro38Ala) n.400C>G | |
4 | g.971007G>T | CA355941615 | DGKQ | c.337C>A (p.Pro113Thr) c.177C>A c.112C>A (p.Pro38Thr) n.400C>A | gnomAD v4 |
4 | g.971008T>A | CA2801003 | DGKQ | c.336A>T (p.Ala112=) c.176A>T c.111A>T (p.Ala37=) n.399A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.971008T>C | CA437908064 | DGKQ | c.336A>G (p.Ala112=) c.176A>G c.111A>G (p.Ala37=) n.399A>G | gnomAD v4 |
4 | g.971008T>G | CA437908065 | DGKQ | c.336A>C (p.Ala112=) c.176A>C c.111A>C (p.Ala37=) n.399A>C | |
4 | g.971008T= | CA1433035978 | DGKQ | c.336A= (p.Ala112=) c.176A= c.111A= (p.Ala37=) n.399A= | |
4 | g.971009G>A | CA355941616 | DGKQ | c.335C>T (p.Ala112Val) c.175C>T c.110C>T (p.Ala37Val) n.398C>T | gnomAD v4 |
4 | g.971009G>C | CA355941617 | DGKQ | c.335C>G (p.Ala112Gly) c.175C>G c.110C>G (p.Ala37Gly) n.398C>G | |
4 | g.971009G>T | CA355941618 | DGKQ | c.335C>A (p.Ala112Glu) c.175C>A c.110C>A (p.Ala37Glu) n.398C>A | gnomAD v4 |
4 | g.971010C>A | CA355941619 | DGKQ | c.334G>T (p.Ala112Ser) c.174G>T c.109G>T (p.Ala37Ser) n.397G>T | gnomAD v4 |
4 | g.971010C>G | CA355941620 | DGKQ | c.334G>C (p.Ala112Pro) c.174G>C c.109G>C (p.Ala37Pro) n.397G>C | |
4 | g.971010C>T | CA355941621 | DGKQ | c.334G>A (p.Ala112Thr) c.174G>A c.109G>A (p.Ala37Thr) n.397G>A | gnomAD v4 |
4 | g.971011C>A | CA437908066 | DGKQ | c.333G>T (p.Val111=) c.173G>T c.108G>T (p.Val36=) n.396G>T | gnomAD v4 |
4 | g.971011C>G | CA437908067 | DGKQ | c.333G>C (p.Val111=) c.173G>C c.108G>C (p.Val36=) n.396G>C | |
4 | g.971011C>T | CA437908068 | DGKQ | c.333G>A (p.Val111=) c.173G>A c.108G>A (p.Val36=) n.396G>A | gnomAD v4 |
4 | g.971012A>C | CA355941623 | DGKQ | c.332T>G (p.Val111Gly) c.172T>G c.107T>G (p.Val36Gly) n.395T>G | |
4 | g.971012A>G | CA355941624 | DGKQ | c.332T>C (p.Val111Ala) c.172T>C c.107T>C (p.Val36Ala) n.395T>C | |
4 | g.971012A>T | CA355941622 | DGKQ | c.332T>A (p.Val111Glu) c.172T>A c.107T>A (p.Val36Glu) n.395T>A | gnomAD v4 |
4 | g.971013C>A | CA355941625 | DGKQ | c.331G>T (p.Val111Leu) c.171G>T c.106G>T (p.Val36Leu) n.394G>T | |
4 | g.971013C>G | CA355941626 | DGKQ | c.331G>C (p.Val111Leu) c.171G>C c.106G>C (p.Val36Leu) n.394G>C | |
4 | g.971013C>T | CA355941627 | DGKQ | c.331G>A (p.Val111Met) c.171G>A c.106G>A (p.Val36Met) n.394G>A | gnomAD v4 |
4 | g.971014A= | CA1433035982 | DGKQ | c.330T= (p.Ser110=) c.170T= c.105T= (p.Ser35=) n.393T= | |
4 | g.971014A>C | CA355941628 | DGKQ | c.330T>G (p.Ser110Arg) c.170T>G c.105T>G (p.Ser35Arg) n.393T>G | |
4 | g.971014A>G | CA437908069 | DGKQ | c.330T>C (p.Ser110=) c.170T>C c.105T>C (p.Ser35=) n.393T>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.971014A>T | CA355941629 | DGKQ | c.330T>A (p.Ser110Arg) c.170T>A c.105T>A (p.Ser35Arg) n.393T>A | |
4 | g.971015C>A | CA355941630 | DGKQ | c.329G>T (p.Ser110Ile) c.169G>T c.104G>T (p.Ser35Ile) n.392G>T | gnomAD v4 |
4 | g.971015C= | CA1433035984 | DGKQ | c.329G= (p.Ser110=) c.169G= c.104G= (p.Ser35=) n.392G= | |
4 | g.971015C>G | CA355941631 | DGKQ | c.329G>C (p.Ser110Thr) c.169G>C c.104G>C (p.Ser35Thr) n.392G>C | |
4 | g.971015C>T | CA355941632 | DGKQ | c.329G>A (p.Ser110Asn) c.169G>A c.104G>A (p.Ser35Asn) n.392G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971016T>A | CA355941633 | DGKQ | c.328A>T (p.Ser110Cys) c.168A>T c.103A>T (p.Ser35Cys) n.391A>T | gnomAD v4 |
4 | g.971016T>C | CA355941634 | DGKQ | c.328A>G (p.Ser110Gly) c.168A>G c.103A>G (p.Ser35Gly) n.391A>G | gnomAD v4 |
4 | g.971016T>G | CA355941635 | DGKQ | c.328A>C (p.Ser110Arg) c.168A>C c.103A>C (p.Ser35Arg) n.391A>C | |
4 | g.971017C>A | CA437908070 | DGKQ | c.327G>T (p.Thr109=) c.167G>T c.102G>T (p.Thr34=) n.390G>T | gnomAD v4 |
4 | g.971017C= | CA1433035989 | DGKQ | c.327G= (p.Thr109=) c.167G= c.102G= (p.Thr34=) n.390G= | |
4 | g.971017C>G | CA437908071 | DGKQ | c.327G>C (p.Thr109=) c.167G>C c.102G>C (p.Thr34=) n.390G>C | gnomAD v4 |
4 | g.971017C>T | CA437908072 | DGKQ | c.327G>A (p.Thr109=) c.167G>A c.102G>A (p.Thr34=) n.390G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971018G>A | CA91138456 | DGKQ | c.326C>T (p.Thr109Met) c.166C>T c.101C>T (p.Thr34Met) n.389C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.971018G>C | CA355941637 | DGKQ | c.326C>G (p.Thr109Arg) c.166C>G c.101C>G (p.Thr34Arg) n.389C>G | gnomAD v4 |
4 | g.971018G= | CA1433035994 | DGKQ | c.326C= (p.Thr109=) c.166C= c.101C= (p.Thr34=) n.389C= | |
4 | g.971018G>T | CA355941636 | DGKQ | c.326C>A (p.Thr109Lys) c.166C>A c.101C>A (p.Thr34Lys) n.389C>A | |
4 | g.971019T>A | CA355941638 | DGKQ | c.325A>T (p.Thr109Ser) c.165A>T c.100A>T (p.Thr34Ser) n.388A>T | |
4 | g.971019T>C | CA355941639 | DGKQ | c.325A>G (p.Thr109Ala) c.165A>G c.100A>G (p.Thr34Ala) n.388A>G | gnomAD v4 |
4 | g.971019T>G | CA355941640 | DGKQ | c.325A>C (p.Thr109Pro) c.165A>C c.100A>C (p.Thr34Pro) n.388A>C | |
4 | g.971020G>A | CA437908073 | DGKQ | c.324C>T (p.Cys108=) c.164C>T c.99C>T (p.Cys33=) n.387C>T | gnomAD v4 |
4 | g.971020G>C | CA355941641 | DGKQ | c.324C>G (p.Cys108Trp) c.164C>G c.99C>G (p.Cys33Trp) n.387C>G | |
4 | g.971020G>T | CA355941642 | DGKQ | c.324C>A (p.Cys108Ter) c.164C>A c.99C>A (p.Cys33Ter) n.387C>A | gnomAD v4 |
4 | g.971021C>A | CA355941643 | DGKQ | c.323G>T (p.Cys108Phe) c.163G>T c.98G>T (p.Cys33Phe) n.386G>T | gnomAD v4 |
4 | g.971021C= | CA1433035996 | DGKQ | c.323G= (p.Cys108=) c.163G= c.98G= (p.Cys33=) n.386G= | |
4 | g.971021C>G | CA355941644 | DGKQ | c.323G>C (p.Cys108Ser) c.163G>C c.98G>C (p.Cys33Ser) n.386G>C | gnomAD v4 |
4 | g.971021C>T | CA355941645 | DGKQ | c.323G>A (p.Cys108Tyr) c.163G>A c.98G>A (p.Cys33Tyr) n.386G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.971022A>C | CA355941646 | DGKQ | c.322T>G (p.Cys108Gly) c.162T>G c.97T>G (p.Cys33Gly) n.385T>G | |
4 | g.971022A>G | CA355941647 | DGKQ | c.322T>C (p.Cys108Arg) c.162T>C c.97T>C (p.Cys33Arg) n.385T>C | gnomAD v4 |
4 | g.971022A>T | CA355941648 | DGKQ | c.322T>A (p.Cys108Ser) c.162T>A c.97T>A (p.Cys33Ser) n.385T>A | gnomAD v4 |
4 | g.971023C>A | CA437908074 | DGKQ | c.321G>T (p.Pro107=) c.161G>T c.96G>T (p.Pro32=) n.384G>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.971023C= | CA1433035998 | DGKQ | c.321G= (p.Pro107=) c.161G= c.96G= (p.Pro32=) n.384G= | |
4 | g.971023C>G | CA437908075 | DGKQ | c.321G>C (p.Pro107=) c.161G>C c.96G>C (p.Pro32=) n.384G>C | |
4 | g.971023C>T | CA2801004 | DGKQ | c.321G>A (p.Pro107=) c.161G>A c.96G>A (p.Pro32=) n.384G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971023_971024delinsCG | CA1433035999 | DGKQ | c.320_321delinsCG (p.Pro107=) c.160_161delinsCG c.95_96delinsCG (p.Pro32=) n.383_384delinsCG | |
4 | g.971024G>A | CA2801005 | DGKQ | c.320C>T (p.Pro107Leu) c.160C>T c.95C>T (p.Pro32Leu) n.383C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971024G>C | CA355941649 | DGKQ | c.320C>G (p.Pro107Arg) c.160C>G c.95C>G (p.Pro32Arg) n.383C>G | gnomAD v4 |
4 | g.971024G= | CA1433036003 | DGKQ | c.320C= (p.Pro107=) c.160C= c.95C= (p.Pro32=) n.383C= | |
4 | g.971024G>T | CA91138459 | DGKQ | c.320C>A (p.Pro107Gln) c.160C>A c.95C>A (p.Pro32Gln) n.383C>A | dbSNP gnomAD v4 |
4 | g.971026del | CA800428261 | DGKQ | c.320del (p.Pro107ArgfsTer14) c.160del c.95del (p.Pro32ArgfsTer14) n.383del | dbSNP gnomAD v3 gnomAD v4 |
4 | g.971025G>A | CA355941650 | DGKQ | c.319C>T (p.Pro107Ser) c.159C>T c.94C>T (p.Pro32Ser) n.382C>T | gnomAD v4 |
4 | g.971025G>C | CA355941652 | DGKQ | c.319C>G (p.Pro107Ala) c.159C>G c.94C>G (p.Pro32Ala) n.382C>G | |
4 | g.971025G>T | CA355941651 | DGKQ | c.319C>A (p.Pro107Thr) c.159C>A c.94C>A (p.Pro32Thr) n.382C>A | gnomAD v4 |
4 | g.971026G>A | CA437908076 | DGKQ | c.318C>T (p.Ile106=) c.158C>T c.93C>T (p.Ile31=) n.381C>T | gnomAD v4 |
4 | g.971026G>C | CA355941653 | DGKQ | c.318C>G (p.Ile106Met) c.158C>G c.93C>G (p.Ile31Met) n.381C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971026G= | CA1433036008 | DGKQ | c.318C= (p.Ile106=) c.158C= c.93C= (p.Ile31=) n.381C= | |
4 | g.971026G>T | CA437908077 | DGKQ | c.318C>A (p.Ile106=) c.158C>A c.93C>A (p.Ile31=) n.381C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971027A>C | CA355941656 | DGKQ | c.317T>G (p.Ile106Ser) c.157T>G c.92T>G (p.Ile31Ser) n.380T>G | gnomAD v4 |
4 | g.971027A>G | CA355941654 | DGKQ | c.317T>C (p.Ile106Thr) c.157T>C c.92T>C (p.Ile31Thr) n.380T>C | gnomAD v4 |
4 | g.971027A>T | CA355941655 | DGKQ | c.317T>A (p.Ile106Asn) c.157T>A c.92T>A (p.Ile31Asn) n.380T>A | |
4 | g.971028T>A | CA355941657 | DGKQ | c.316A>T (p.Ile106Phe) c.156A>T c.91A>T (p.Ile31Phe) n.379A>T | |
4 | g.971028T>C | CA355941658 | DGKQ | c.316A>G (p.Ile106Val) c.156A>G c.91A>G (p.Ile31Val) n.379A>G | |
4 | g.971028T>G | CA355941659 | DGKQ | c.316A>C (p.Ile106Leu) c.156A>C c.91A>C (p.Ile31Leu) n.379A>C | |
4 | g.971029C>A | CA355941660 | DGKQ | c.315G>T (p.Arg105Ser) c.155G>T c.90G>T (p.Arg30Ser) n.378G>T | gnomAD v4 |
4 | g.971029C>G | CA355941661 | DGKQ | c.315G>C (p.Arg105Ser) c.155G>C c.90G>C (p.Arg30Ser) n.378G>C | gnomAD v4 |
4 | g.971029C>T | CA437908078 | DGKQ | c.315G>A (p.Arg105=) c.155G>A c.90G>A (p.Arg30=) n.378G>A | |
4 | g.971030C>A | CA355941662 | DGKQ | c.314G>T (p.Arg105Met) c.154G>T c.89G>T (p.Arg30Met) n.377G>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.971030C= | CA1433036010 | DGKQ | c.314G= (p.Arg105=) c.154G= c.89G= (p.Arg30=) n.377G= | |
4 | g.971030C>G | CA355941663 | DGKQ | c.314G>C (p.Arg105Thr) c.154G>C c.89G>C (p.Arg30Thr) n.377G>C | |
4 | g.971030C>T | CA355941664 | DGKQ | c.314G>A (p.Arg105Lys) c.154G>A c.89G>A (p.Arg30Lys) n.377G>A | gnomAD v4 |
4 | g.971031_971032del | CA2669482133 | DGKQ | c.313_314del (p.Arg105AspfsTer?) c.153_154del c.88_89del (p.Arg30AspfsTer?) n.376_377del | gnomAD v4 |
4 | g.971031T>A | CA355941665 | DGKQ | c.313A>T (p.Arg105Trp) c.153A>T c.88A>T (p.Arg30Trp) n.376A>T | gnomAD v4 |
4 | g.971031T>C | CA355941666 | DGKQ | c.313A>G (p.Arg105Gly) c.153A>G c.88A>G (p.Arg30Gly) n.376A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.971031T>G | CA437908081 | DGKQ | c.313A>C (p.Arg105=) c.153A>C c.88A>C (p.Arg30=) n.376A>C | |
4 | g.971031T= | CA1433036012 | DGKQ | c.313A= (p.Arg105=) c.153A= c.88A= (p.Arg30=) n.376A= | |
4 | g.971032C>A | CA437908084 | DGKQ | c.312G>T (p.Val104=) c.152G>T c.87G>T (p.Val29=) n.375G>T | gnomAD v4 |
4 | g.971032C>G | CA437908082 | DGKQ | c.312G>C (p.Val104=) c.152G>C c.87G>C (p.Val29=) n.375G>C | |
4 | g.971032C>T | CA437908083 | DGKQ | c.312G>A (p.Val104=) c.152G>A c.87G>A (p.Val29=) n.375G>A | gnomAD v4 |
4 | g.971033A>C | CA355941669 | DGKQ | c.311T>G (p.Val104Gly) c.151T>G c.86T>G (p.Val29Gly) n.374T>G | |
4 | g.971033A>G | CA355941667 | DGKQ | c.311T>C (p.Val104Ala) c.151T>C c.86T>C (p.Val29Ala) n.374T>C | gnomAD v4 |
4 | g.971033A>T | CA355941668 | DGKQ | c.311T>A (p.Val104Glu) c.151T>A c.86T>A (p.Val29Glu) n.374T>A | |
4 | g.971034C>A | CA355941670 | DGKQ | c.310G>T (p.Val104Leu) c.150G>T c.85G>T (p.Val29Leu) n.373G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971034C= | CA1433036017 | DGKQ | c.310G= (p.Val104=) c.150G= c.85G= (p.Val29=) n.373G= | |
4 | g.971034C>G | CA2801006 | DGKQ | c.310G>C (p.Val104Leu) c.150G>C c.85G>C (p.Val29Leu) n.373G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971034C>T | CA355941671 | DGKQ | c.310G>A (p.Val104Met) c.150G>A c.85G>A (p.Val29Met) n.373G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971035G>A | CA2801007 | DGKQ | c.309C>T (p.His103=) c.149C>T c.84C>T (p.His28=) n.372C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971035G>C | CA355941672 | DGKQ | c.309C>G (p.His103Gln) c.149C>G c.84C>G (p.His28Gln) n.372C>G | gnomAD v4 |
4 | g.971035G= | CA1433036027 | DGKQ | c.309C= (p.His103=) c.149C= c.84C= (p.His28=) n.372C= | |
4 | g.971035G>T | CA355941673 | DGKQ | c.309C>A (p.His103Gln) c.149C>A c.84C>A (p.His28Gln) n.372C>A | |
4 | g.971036T>A | CA355941674 | DGKQ | c.308A>T (p.His103Leu) c.148A>T c.83A>T (p.His28Leu) n.371A>T | |
4 | g.971036T>C | CA355941675 | DGKQ | c.308A>G (p.His103Arg) c.148A>G c.83A>G (p.His28Arg) n.371A>G | gnomAD v4 |
4 | g.971036T>G | CA355941676 | DGKQ | c.308A>C (p.His103Pro) c.148A>C c.83A>C (p.His28Pro) n.371A>C | |
4 | g.971037G>A | CA355941677 | DGKQ | c.307C>T (p.His103Tyr) c.147C>T c.82C>T (p.His28Tyr) n.370C>T | gnomAD v4 |
4 | g.971037G>C | CA355941678 | DGKQ | c.307C>G (p.His103Asp) c.147C>G c.82C>G (p.His28Asp) n.370C>G | gnomAD v4 |
4 | g.971037G>T | CA355941679 | DGKQ | c.307C>A (p.His103Asn) c.147C>A c.82C>A (p.His28Asn) n.370C>A | gnomAD v4 |
4 | g.971038C>A | CA355941680 | DGKQ | c.306G>T (p.Lys102Asn) c.146G>T c.81G>T (p.Lys27Asn) n.369G>T | gnomAD v4 |
4 | g.971038C= | CA1433036029 | DGKQ | c.306G= (p.Lys102=) c.146G= c.81G= (p.Lys27=) n.369G= | |
4 | g.971038C>G | CA355941681 | DGKQ | c.306G>C (p.Lys102Asn) c.146G>C c.81G>C (p.Lys27Asn) n.369G>C | gnomAD v4 |
4 | g.971038C>T | CA437908085 | DGKQ | c.306G>A (p.Lys102=) c.146G>A c.81G>A (p.Lys27=) n.369G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971039T>A | CA355941682 | DGKQ | c.305A>T (p.Lys102Met) c.145A>T c.80A>T (p.Lys27Met) n.368A>T | |
4 | g.971039T>C | CA2801008 | DGKQ | c.305A>G (p.Lys102Arg) c.145A>G c.80A>G (p.Lys27Arg) n.368A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971039T>G | CA355941683 | DGKQ | c.305A>C (p.Lys102Thr) c.145A>C c.80A>C (p.Lys27Thr) n.368A>C | |
4 | g.971039T= | CA1433036033 | DGKQ | c.305A= (p.Lys102=) c.145A= c.80A= (p.Lys27=) n.368A= | |
4 | g.971040T>A | CA355941684 | DGKQ | c.304A>T (p.Lys102Ter) c.144A>T c.79A>T (p.Lys27Ter) n.367A>T | |
4 | g.971040T>C | CA355941685 | DGKQ | c.304A>G (p.Lys102Glu) c.144A>G c.79A>G (p.Lys27Glu) n.367A>G | |
4 | g.971040T>G | CA355941686 | DGKQ | c.304A>C (p.Lys102Gln) c.144A>C c.79A>C (p.Lys27Gln) n.367A>C | |
4 | g.971041C>A | CA437908086 | DGKQ | c.303G>T (p.Leu101=) c.143G>T c.78G>T (p.Leu26=) n.366G>T | gnomAD v4 |
4 | g.971041C= | CA1433036038 | DGKQ | c.303G= (p.Leu101=) c.143G= c.78G= (p.Leu26=) n.366G= | |
4 | g.971041C>G | CA437908087 | DGKQ | c.303G>C (p.Leu101=) c.143G>C c.78G>C (p.Leu26=) n.366G>C | gnomAD v4 |
4 | g.971041C>T | CA2801009 | DGKQ | c.303G>A (p.Leu101=) c.143G>A c.78G>A (p.Leu26=) n.366G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971042A>C | CA355941687 | DGKQ | c.302T>G (p.Leu101Arg) c.142T>G c.77T>G (p.Leu26Arg) n.365T>G | |
4 | g.971042A>G | CA355941689 | DGKQ | c.302T>C (p.Leu101Pro) c.142T>C c.77T>C (p.Leu26Pro) n.365T>C | gnomAD v4 |
4 | g.971042A>T | CA355941688 | DGKQ | c.302T>A (p.Leu101Gln) c.142T>A c.77T>A (p.Leu26Gln) n.365T>A | gnomAD v4 |
4 | g.971043G>A | CA437908088 | DGKQ | c.301C>T (p.Leu101=) c.141C>T c.76C>T (p.Leu26=) n.364C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.971043G>C | CA355941690 | DGKQ | c.301C>G (p.Leu101Val) c.141C>G c.76C>G (p.Leu26Val) n.364C>G | |
4 | g.971043G= | CA1433036042 | DGKQ | c.301C= (p.Leu101=) c.141C= c.76C= (p.Leu26=) n.364C= | |
4 | g.971043G>T | CA355941691 | DGKQ | c.301C>A (p.Leu101Met) c.141C>A c.76C>A (p.Leu26Met) n.364C>A | gnomAD v4 COSMIC |
4 | g.971044del | CA2760124854 | DGKQ | c.301del (p.Leu101Ter) c.141del c.76del (p.Leu26Ter) n.364del | |
4 | g.971044G>A | CA437908089 | DGKQ | c.300C>T (p.Cys100=) c.140C>T c.75C>T (p.Cys25=) n.363C>T | dbSNP gnomAD v4 |
4 | g.971044G>C | CA355941692 | DGKQ | c.300C>G (p.Cys100Trp) c.140C>G c.75C>G (p.Cys25Trp) n.363C>G | gnomAD v4 |
4 | g.971044G= | CA1433036045 | DGKQ | c.300C= (p.Cys100=) c.140C= c.75C= (p.Cys25=) n.363C= | |
4 | g.971044G>T | CA355941693 | DGKQ | c.300C>A (p.Cys100Ter) c.140C>A c.75C>A (p.Cys25Ter) n.363C>A | gnomAD v4 |
4 | g.971045C>A | CA355941694 | DGKQ | c.299G>T (p.Cys100Phe) c.139G>T c.74G>T (p.Cys25Phe) n.362G>T | gnomAD v4 |
4 | g.971045C>G | CA355941696 | DGKQ | c.299G>C (p.Cys100Ser) c.139G>C c.74G>C (p.Cys25Ser) n.362G>C | |
4 | g.971045C>T | CA355941695 | DGKQ | c.299G>A (p.Cys100Tyr) c.139G>A c.74G>A (p.Cys25Tyr) n.362G>A | gnomAD v4 |
4 | g.971046A= | CA1433036048 | DGKQ | c.298T= (p.Cys100=) c.138T= c.73T= (p.Cys25=) n.361T= | |
4 | g.971046A>C | CA355941697 | DGKQ | c.298T>G (p.Cys100Gly) c.138T>G c.73T>G (p.Cys25Gly) n.361T>G | |
4 | g.971046A>G | CA355941698 | DGKQ | c.298T>C (p.Cys100Arg) c.138T>C c.73T>C (p.Cys25Arg) n.361T>C | |
4 | g.971046A>T | CA355941699 | DGKQ | c.298T>A (p.Cys100Ser) c.138T>A c.73T>A (p.Cys25Ser) n.361T>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.971047C>A | CA355941700 | DGKQ | c.297G>T (p.Lys99Asn) c.137G>T c.72G>T (p.Lys24Asn) n.360G>T | |
4 | g.971047C>G | CA355941701 | DGKQ | c.297G>C (p.Lys99Asn) c.137G>C c.72G>C (p.Lys24Asn) n.360G>C | |
4 | g.971047C>T | CA437908090 | DGKQ | c.297G>A (p.Lys99=) c.137G>A c.72G>A (p.Lys24=) n.360G>A | gnomAD v4 |
4 | g.971048T>A | CA355941702 | DGKQ | c.296A>T (p.Lys99Met) c.136A>T c.71A>T (p.Lys24Met) n.359A>T | |
4 | g.971048T>C | CA355941703 | DGKQ | c.296A>G (p.Lys99Arg) c.136A>G c.71A>G (p.Lys24Arg) n.359A>G | gnomAD v4 |
4 | g.971048T>G | CA355941704 | DGKQ | c.296A>C (p.Lys99Thr) c.136A>C c.71A>C (p.Lys24Thr) n.359A>C | dbSNP |
4 | g.971048T= | CA1433036050 | DGKQ | c.296A= (p.Lys99=) c.136A= c.71A= (p.Lys24=) n.359A= | |
4 | g.971049T>A | CA355941705 | DGKQ | c.295A>T (p.Lys99Ter) c.135A>T c.70A>T (p.Lys24Ter) n.358A>T | gnomAD v4 |
4 | g.971049T>C | CA355941706 | DGKQ | c.295A>G (p.Lys99Glu) c.135A>G c.70A>G (p.Lys24Glu) n.358A>G | gnomAD v4 |
4 | g.971049T>G | CA355941707 | DGKQ | c.295A>C (p.Lys99Gln) c.135A>C c.70A>C (p.Lys24Gln) n.358A>C | |
4 | g.971050C>A | CA355941708 | DGKQ | c.294G>T (p.Glu98Asp) c.134G>T c.69G>T (p.Glu23Asp) n.357G>T | gnomAD v4 |
4 | g.971050C>G | CA355941709 | DGKQ | c.294G>C (p.Glu98Asp) c.134G>C c.69G>C (p.Glu23Asp) n.357G>C | |
4 | g.971050C>T | CA437908093 | DGKQ | c.294G>A (p.Glu98=) c.134G>A c.69G>A (p.Glu23=) n.357G>A | gnomAD v4 |
4 | g.971051T>A | CA355941710 | DGKQ | c.293A>T (p.Glu98Val) c.133A>T c.68A>T (p.Glu23Val) n.356A>T | |
4 | g.971051T>C | CA355941712 | DGKQ | c.293A>G (p.Glu98Gly) c.133A>G c.68A>G (p.Glu23Gly) n.356A>G | gnomAD v4 |
4 | g.971051T>G | CA355941711 | DGKQ | c.293A>C (p.Glu98Ala) c.133A>C c.68A>C (p.Glu23Ala) n.356A>C | |
4 | g.971052C>A | CA91138466 | DGKQ | c.292G>T (p.Glu98Ter) c.132G>T c.67G>T (p.Glu23Ter) n.355G>T | dbSNP gnomAD v4 |
4 | g.971052C= | CA1433036053 | DGKQ | c.292G= (p.Glu98=) c.132G= c.67G= (p.Glu23=) n.355G= | |
4 | g.971052C>G | CA91138468 | DGKQ | c.292G>C (p.Glu98Gln) c.132G>C c.67G>C (p.Glu23Gln) n.355G>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971052C>T | CA355941713 | DGKQ | c.292G>A (p.Glu98Lys) c.132G>A c.67G>A (p.Glu23Lys) n.355G>A | gnomAD v4 |
4 | g.971053A>C | CA355941714 | DGKQ | c.291T>G (p.His97Gln) c.131T>G c.66T>G (p.His22Gln) n.354T>G | gnomAD v4 |
4 | g.971053A>G | CA437908094 | DGKQ | c.291T>C (p.His97=) c.131T>C c.66T>C (p.His22=) n.354T>C | |
4 | g.971053A>T | CA355941715 | DGKQ | c.291T>A (p.His97Gln) c.131T>A c.66T>A (p.His22Gln) n.354T>A | gnomAD v4 |
4 | g.971054T>A | CA355941716 | DGKQ | c.290A>T (p.His97Leu) c.130A>T c.65A>T (p.His22Leu) n.353A>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.971054T>C | CA355941717 | DGKQ | c.290A>G (p.His97Arg) c.130A>G c.65A>G (p.His22Arg) n.353A>G | gnomAD v4 |
4 | g.971054T>G | CA355941718 | DGKQ | c.290A>C (p.His97Pro) c.130A>C c.65A>C (p.His22Pro) n.353A>C | gnomAD v4 |
4 | g.971054T= | CA1433036055 | DGKQ | c.290A= (p.His97=) c.130A= c.65A= (p.His22=) n.353A= | |
4 | g.971055G>A | CA355941719 | DGKQ | c.289C>T (p.His97Tyr) c.129C>T c.64C>T (p.His22Tyr) n.352C>T | gnomAD v4 |
4 | g.971055G>C | CA355941720 | DGKQ | c.289C>G (p.His97Asp) c.129C>G c.64C>G (p.His22Asp) n.352C>G | |
4 | g.971055G>T | CA355941721 | DGKQ | c.289C>A (p.His97Asn) c.129C>A c.64C>A (p.His22Asn) n.352C>A | gnomAD v4 |