1 | g.228158090_228158129del | CA2650853833 | GJC2 | c.332_371del (p.Arg111ProfsTer?)
| gnomAD v4 |
1 | g.228158118_228158155delinsACGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACG | CA1225623750 | GJC2 | c.360_397delinsACGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACG (p.Pro120=)
| |
1 | g.228158120_228158156del | CA16617080 | GJC2 | c.362_398del (p.Arg121ProfsTer?)
| ClinVar dbSNP |
1 | g.228158127_228158128del | CA2580611555 | GJC2 | c.369_370del (p.Arg125SerfsTer12)
| ClinVar |
1 | g.228158128C>A | CA345097579 | GJC2 | c.370C>A (p.Pro124Thr)
| |
1 | g.228158128C= | CA1225623784 | GJC2 | c.370C= (p.Pro124=)
| |
1 | g.228158128C>G | CA345097582 | GJC2 | c.370C>G (p.Pro124Ala)
| |
1 | g.228158128C>T | CA345097580 | GJC2 | c.370C>T (p.Pro124Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158129_228158150dup | CA2573051505 | GJC2 | c.371_392dup (p.His132ProfsTer13)
| ClinVar dbSNP |
1 | g.228158129C>A | CA345097584 | GJC2 | c.371C>A (p.Pro124His)
| |
1 | g.228158129C>G | CA345097588 | GJC2 | c.371C>G (p.Pro124Arg)
| |
1 | g.228158129C>T | CA345097586 | GJC2 | c.371C>T (p.Pro124Leu)
| |
1 | g.228158130C>A | CA423738841 | GJC2 | c.372C>A (p.Pro124=)
| |
1 | g.228158130C= | CA1225623787 | GJC2 | c.372C= (p.Pro124=)
| |
1 | g.228158130C>G | CA423738842 | GJC2 | c.372C>G (p.Pro124=)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158130C>T | CA423738843 | GJC2 | c.372C>T (p.Pro124=)
| gnomAD v4 |
1 | g.228158131C>A | CA423738844 | GJC2 | c.373C>A (p.Arg125=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158131C= | CA1145472087 | GJC2 | c.373C= (p.Arg125=)
| |
1 | g.228158131C>G | CA38727607 | GJC2 | c.373C>G (p.Arg125Gly)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158131C>T | CA345097592 | GJC2 | c.373C>T (p.Arg125Ter)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158132G>A | CA345097594 | GJC2 | c.374G>A (p.Arg125Gln)
| gnomAD v4 |
1 | g.228158132G>C | CA345097596 | GJC2 | c.374G>C (p.Arg125Pro)
| |
1 | g.228158132G>T | CA345097598 | GJC2 | c.374G>T (p.Arg125Leu)
| gnomAD v4 |
1 | g.228158133A>C | CA423738851 | GJC2 | c.375A>C (p.Arg125=)
| |
1 | g.228158133A>G | CA423738853 | GJC2 | c.375A>G (p.Arg125=)
| gnomAD v4 |
1 | g.228158133A>T | CA423738852 | GJC2 | c.375A>T (p.Arg125=)
| |
1 | g.228158134G>A | CA345097600 | GJC2 | c.376G>A (p.Ala126Thr)
| |
1 | g.228158134G>C | CA345097602 | GJC2 | c.376G>C (p.Ala126Pro)
| |
1 | g.228158134G= | CA1225623793 | GJC2 | c.376G= (p.Ala126=)
| |
1 | g.228158134G>T | CA345097604 | GJC2 | c.376G>T (p.Ala126Ser)
| |
1 | g.228158135C>A | CA345097605 | GJC2 | c.377C>A (p.Ala126Glu)
| |
1 | g.228158135C= | CA1225623797 | GJC2 | c.377C= (p.Ala126=)
| |
1 | g.228158135C>G | CA345097607 | GJC2 | c.377C>G (p.Ala126Gly)
| gnomAD v4 |
1 | g.228158135C>T | CA345097609 | GJC2 | c.377C>T (p.Ala126Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158138_228158146dup | CA2650854064 | GJC2 | c.380_388dup (p.Pro129_Pro130insHisLeuPro)
| gnomAD v4 |
1 | g.228158138_228158156dup | CA529465551 | GJC2 | c.380_398dup (p.Gly134ProfsTer10)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158136G>A | CA423738858 | GJC2 | c.378G>A (p.Ala126=)
| gnomAD v4 |
1 | g.228158136G>C | CA423738856 | GJC2 | c.378G>C (p.Ala126=)
| dbSNP |
1 | g.228158136G= | CA1225623801 | GJC2 | c.378G= (p.Ala126=)
| |
1 | g.228158136G>T | CA423738857 | GJC2 | c.378G>T (p.Ala126=)
| |
1 | g.228158137C>A | CA345097611 | GJC2 | c.379C>A (p.His127Asn)
| |
1 | g.228158137C>G | CA345097613 | GJC2 | c.379C>G (p.His127Asp)
| |
1 | g.228158137C>T | CA345097615 | GJC2 | c.379C>T (p.His127Tyr)
| |
1 | g.228158138A>C | CA345097622 | GJC2 | c.380A>C (p.His127Pro)
| |
1 | g.228158138A>G | CA345097617 | GJC2 | c.380A>G (p.His127Arg)
| |
1 | g.228158138A>T | CA345097620 | GJC2 | c.380A>T (p.His127Leu)
| |
1 | g.228158139C>A | CA345097623 | GJC2 | c.381C>A (p.His127Gln)
| gnomAD v4 |
1 | g.228158139C>G | CA345097625 | GJC2 | c.381C>G (p.His127Gln)
| |
1 | g.228158139C>T | CA423738870 | GJC2 | c.381C>T (p.His127=)
| gnomAD v4 |
1 | g.228158140C>A | CA345097628 | GJC2 | c.382C>A (p.Leu128Met)
| |
1 | g.228158140C= | CA1225623803 | GJC2 | c.382C= (p.Leu128=)
| |
1 | g.228158140C>G | CA345097630 | GJC2 | c.382C>G (p.Leu128Val)
| |
1 | g.228158140C>T | CA423738871 | GJC2 | c.382C>T (p.Leu128=)
| dbSNP |
1 | g.228158141T>A | CA345097632 | GJC2 | c.383T>A (p.Leu128Gln)
| |
1 | g.228158141T>C | CA345097634 | GJC2 | c.383T>C (p.Leu128Pro)
| dbSNP gnomAD v4 |
1 | g.228158141T>G | CA345097636 | GJC2 | c.383T>G (p.Leu128Arg)
| |
1 | g.228158141T= | CA1225623804 | GJC2 | c.383T= (p.Leu128=)
| |
1 | g.228158142G>A | CA423738874 | GJC2 | c.384G>A (p.Leu128=)
| gnomAD v4 |
1 | g.228158142G>C | CA423738875 | GJC2 | c.384G>C (p.Leu128=)
| |
1 | g.228158142G>T | CA423738876 | GJC2 | c.384G>T (p.Leu128=)
| dbSNP |
1 | g.228158143C>A | CA345097638 | GJC2 | c.385C>A (p.Pro129Thr)
| |
1 | g.228158143C>G | CA345097640 | GJC2 | c.385C>G (p.Pro129Ala)
| gnomAD v4 |
1 | g.228158143C>T | CA345097641 | GJC2 | c.385C>T (p.Pro129Ser)
| gnomAD v4 |
1 | g.228158144del | CA2586968350 | GJC2 | c.386del (p.Pro129ArgfsTer?)
| |
1 | g.228158144C>A | CA345097646 | GJC2 | c.386C>A (p.Pro129Gln)
| |
1 | g.228158144C>G | CA345097644 | GJC2 | c.386C>G (p.Pro129Arg)
| ClinVar gnomAD v4 |
1 | g.228158144C>T | CA345097643 | GJC2 | c.386C>T (p.Pro129Leu)
| gnomAD v4 COSMIC |
1 | g.228158145G>A | CA38727609 | GJC2 | c.387G>A (p.Pro129=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158145G>C | CA423738880 | GJC2 | c.387G>C (p.Pro129=)
| |
1 | g.228158145G= | CA1225623806 | GJC2 | c.387G= (p.Pro129=)
| |
1 | g.228158145G>T | CA423738879 | GJC2 | c.387G>T (p.Pro129=)
| gnomAD v4 |
1 | g.228158145dup | CA2586968351 | GJC2 | c.387dup (p.Pro130AlafsTer8)
| |
1 | g.228158145_228158146delinsGC | CA1225623807 | GJC2 | c.387_388delinsGC (p.Pro129=)
| |
1 | g.228158146C>A | CA345097648 | GJC2 | c.388C>A (p.Pro130Thr)
| |
1 | g.228158146C= | CA1225623813 | GJC2 | c.388C= (p.Pro130=)
| |
1 | g.228158146C>G | CA345097650 | GJC2 | c.388C>G (p.Pro130Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158146C>T | CA345097652 | GJC2 | c.388C>T (p.Pro130Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158150dup | CA529465553 | GJC2 | c.392dup (p.His132AlafsTer6)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158150del | CA529465552 | GJC2 | c.392del (p.Pro131ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158147C>A | CA345097654 | GJC2 | c.389C>A (p.Pro130His)
| gnomAD v4 |
1 | g.228158147C>G | CA345097656 | GJC2 | c.389C>G (p.Pro130Arg)
| |
1 | g.228158147C>T | CA345097658 | GJC2 | c.389C>T (p.Pro130Leu)
| |
1 | g.228158148C>A | CA423738887 | GJC2 | c.390C>A (p.Pro130=)
| |
1 | g.228158148C= | CA1225623815 | GJC2 | c.390C= (p.Pro130=)
| |
1 | g.228158148C>G | CA423738888 | GJC2 | c.390C>G (p.Pro130=)
| |
1 | g.228158148C>T | CA423738889 | GJC2 | c.390C>T (p.Pro130=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158149C>A | CA345097660 | GJC2 | c.391C>A (p.Pro131Thr)
| |
1 | g.228158149C>G | CA345097663 | GJC2 | c.391C>G (p.Pro131Ala)
| |
1 | g.228158149C>T | CA345097665 | GJC2 | c.391C>T (p.Pro131Ser)
| |
1 | g.228158150C>A | CA345097667 | GJC2 | c.392C>A (p.Pro131Gln)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158150C= | CA1225623819 | GJC2 | c.392C= (p.Pro131=)
| |
1 | g.228158150C>G | CA345097669 | GJC2 | c.392C>G (p.Pro131Arg)
| |
1 | g.228158150C>T | CA345097671 | GJC2 | c.392C>T (p.Pro131Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158151G>A | CA423738894 | GJC2 | c.393G>A (p.Pro131=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158151G>C | CA423738895 | GJC2 | c.393G>C (p.Pro131=)
| gnomAD v4 |
1 | g.228158151G= | CA1225623822 | GJC2 | c.393G= (p.Pro131=)
| |
1 | g.228158151G>T | CA423738896 | GJC2 | c.393G>T (p.Pro131=)
| |
1 | g.228158152C>A | CA345097677 | GJC2 | c.394C>A (p.His132Asn)
| dbSNP |
1 | g.228158152C= | CA1225623824 | GJC2 | c.394C= (p.His132=)
| |
1 | g.228158152C>G | CA345097673 | GJC2 | c.394C>G (p.His132Asp)
| |
1 | g.228158152C>T | CA345097675 | GJC2 | c.394C>T (p.His132Tyr)
| |
1 | g.228158153A= | CA1225623825 | GJC2 | c.395A= (p.His132=)
| |
1 | g.228158153A>C | CA345097679 | GJC2 | c.395A>C (p.His132Pro)
| |
1 | g.228158153A>G | CA345097681 | GJC2 | c.395A>G (p.His132Arg)
| |
1 | g.228158153A>T | CA345097682 | GJC2 | c.395A>T (p.His132Leu)
| dbSNP |
1 | g.228158154C>A | CA345097684 | GJC2 | c.396C>A (p.His132Gln)
| dbSNP gnomAD v4 |
1 | g.228158154C= | CA1225623828 | GJC2 | c.396C= (p.His132=)
| |
1 | g.228158154C>G | CA345097687 | GJC2 | c.396C>G (p.His132Gln)
| gnomAD v4 |
1 | g.228158154C>T | CA423738904 | GJC2 | c.396C>T (p.His132=)
| gnomAD v4 |
1 | g.228158155G>A | CA345097689 | GJC2 | c.397G>A (p.Ala133Thr)
| dbSNP gnomAD v4 |
1 | g.228158155G>C | CA345097691 | GJC2 | c.397G>C (p.Ala133Pro)
| |
1 | g.228158155G>T | CA345097693 | GJC2 | c.397G>T (p.Ala133Ser)
| |
1 | g.228158156C>A | CA345097696 | GJC2 | c.398C>A (p.Ala133Asp)
| gnomAD v4 |
1 | g.228158156C>G | CA345097698 | GJC2 | c.398C>G (p.Ala133Gly)
| gnomAD v4 |
1 | g.228158156C>T | CA345097700 | GJC2 | c.398C>T (p.Ala133Val)
| gnomAD v4 |
1 | g.228158157C>A | CA423738907 | GJC2 | c.399C>A (p.Ala133=)
| |
1 | g.228158157C= | CA1225623829 | GJC2 | c.399C= (p.Ala133=)
| |
1 | g.228158157C>G | CA423738908 | GJC2 | c.399C>G (p.Ala133=)
| |
1 | g.228158157C>T | CA423738910 | GJC2 | c.399C>T (p.Ala133=)
| dbSNP gnomAD v4 |
1 | g.228158158G>A | CA345097704 | GJC2 | c.400G>A (p.Gly134Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158158G>C | CA345097706 | GJC2 | c.400G>C (p.Gly134Arg)
| gnomAD v4 |
1 | g.228158158G= | CA1225623832 | GJC2 | c.400G= (p.Gly134=)
| |
1 | g.228158158G>T | CA345097702 | GJC2 | c.400G>T (p.Gly134Cys)
| gnomAD v4 |
1 | g.228158159G>A | CA345097711 | GJC2 | c.401G>A (p.Gly134Asp)
| gnomAD v4 |
1 | g.228158159G>C | CA345097708 | GJC2 | c.401G>C (p.Gly134Ala)
| |
1 | g.228158159G>T | CA345097710 | GJC2 | c.401G>T (p.Gly134Val)
| gnomAD v4 |
1 | g.228158160C>A | CA423738918 | GJC2 | c.402C>A (p.Gly134=)
| gnomAD v4 |
1 | g.228158160C= | CA1225623834 | GJC2 | c.402C= (p.Gly134=)
| |
1 | g.228158160C>G | CA423738916 | GJC2 | c.402C>G (p.Gly134=)
| dbSNP |
1 | g.228158160C>T | CA423738917 | GJC2 | c.402C>T (p.Gly134=)
| gnomAD v4 |
1 | g.228158161T>A | CA345097713 | GJC2 | c.403T>A (p.Trp135Arg)
| |
1 | g.228158161T>C | CA345097715 | GJC2 | c.403T>C (p.Trp135Arg)
| |
1 | g.228158161T>G | CA345097717 | GJC2 | c.403T>G (p.Trp135Gly)
| |
1 | g.228158162G>A | CA345097724 | GJC2 | c.404G>A (p.Trp135Ter)
| |
1 | g.228158162G>C | CA345097722 | GJC2 | c.404G>C (p.Trp135Ser)
| |
1 | g.228158162G>T | CA345097720 | GJC2 | c.404G>T (p.Trp135Leu)
| |
1 | g.228158162_228158163insT | CA2650854167 | GJC2 | c.404_405insT (p.Trp135CysfsTer3)
| gnomAD v4 |
1 | g.228158163G>A | CA345097726 | GJC2 | c.405G>A (p.Trp135Ter)
| gnomAD v4 |
1 | g.228158163G>C | CA345097727 | GJC2 | c.405G>C (p.Trp135Cys)
| |
1 | g.228158163G= | CA1225623837 | GJC2 | c.405G= (p.Trp135=)
| |
1 | g.228158163G>T | CA345097729 | GJC2 | c.405G>T (p.Trp135Cys)
| dbSNP gnomAD v4 |
1 | g.228158164C>A | CA345097732 | GJC2 | c.406C>A (p.Pro136Thr)
| gnomAD v4 |
1 | g.228158164C>G | CA345097733 | GJC2 | c.406C>G (p.Pro136Ala)
| |
1 | g.228158164C>T | CA345097736 | GJC2 | c.406C>T (p.Pro136Ser)
| gnomAD v4 |
1 | g.228158165C>A | CA345097738 | GJC2 | c.407C>A (p.Pro136His)
| gnomAD v4 |
1 | g.228158165C= | CA1225623841 | GJC2 | c.407C= (p.Pro136=)
| |
1 | g.228158165C>G | CA345097742 | GJC2 | c.407C>G (p.Pro136Arg)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158165C>T | CA345097740 | GJC2 | c.407C>T (p.Pro136Leu)
| dbSNP |
1 | g.228158166T>A | CA423738925 | GJC2 | c.408T>A (p.Pro136=)
| |
1 | g.228158166T>C | CA423738927 | GJC2 | c.408T>C (p.Pro136=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158166T>G | CA423738929 | GJC2 | c.408T>G (p.Pro136=)
| |
1 | g.228158166T= | CA1225623848 | GJC2 | c.408T= (p.Pro136=)
| |
1 | g.228158167G>A | CA345097744 | GJC2 | c.409G>A (p.Glu137Lys)
| gnomAD v4 |
1 | g.228158167G>C | CA345097746 | GJC2 | c.409G>C (p.Glu137Gln)
| ClinVar dbSNP |
1 | g.228158167G>T | CA345097748 | GJC2 | c.409G>T (p.Glu137Ter)
| gnomAD v4 |
1 | g.228158168A>C | CA345097750 | GJC2 | c.410A>C (p.Glu137Ala)
| |
1 | g.228158168A>G | CA345097752 | GJC2 | c.410A>G (p.Glu137Gly)
| gnomAD v4 |
1 | g.228158168A>T | CA345097754 | GJC2 | c.410A>T (p.Glu137Val)
| |
1 | g.228158169G>A | CA423738934 | GJC2 | c.411G>A (p.Glu137=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158169G>C | CA345097756 | GJC2 | c.411G>C (p.Glu137Asp)
| |
1 | g.228158169G= | CA1225623850 | GJC2 | c.411G= (p.Glu137=)
| |
1 | g.228158169G>T | CA345097758 | GJC2 | c.411G>T (p.Glu137Asp)
| gnomAD v4 |
1 | g.228158170C>A | CA345097760 | GJC2 | c.412C>A (p.Pro138Thr)
| ClinVar gnomAD v4 |
1 | g.228158170C= | CA1225623856 | GJC2 | c.412C= (p.Pro138=)
| |
1 | g.228158170C>G | CA345097762 | GJC2 | c.412C>G (p.Pro138Ala)
| |
1 | g.228158170C>T | CA345097764 | GJC2 | c.412C>T (p.Pro138Ser)
| dbSNP gnomAD v4 |
1 | g.228158171C>A | CA345097770 | GJC2 | c.413C>A (p.Pro138His)
| gnomAD v4 |
1 | g.228158171C>G | CA345097768 | GJC2 | c.413C>G (p.Pro138Arg)
| |
1 | g.228158171C>T | CA345097766 | GJC2 | c.413C>T (p.Pro138Leu)
| |
1 | g.228158172C>A | CA423738941 | GJC2 | c.414C>A (p.Pro138=)
| gnomAD v4 |
1 | g.228158172C= | CA1225623858 | GJC2 | c.414C= (p.Pro138=)
| |
1 | g.228158172C>G | CA423738938 | GJC2 | c.414C>G (p.Pro138=)
| gnomAD v4 |
1 | g.228158172C>T | CA423738939 | GJC2 | c.414C>T (p.Pro138=)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158173G>A | CA345097772 | GJC2 | c.415G>A (p.Ala139Thr)
| gnomAD v4 |
1 | g.228158173G>C | CA345097774 | GJC2 | c.415G>C (p.Ala139Pro)
| dbSNP |
1 | g.228158173G= | CA1225623860 | GJC2 | c.415G= (p.Ala139=)
| |
1 | g.228158173G>T | CA345097776 | GJC2 | c.415G>T (p.Ala139Ser)
| gnomAD v4 |
1 | g.228158174C>A | CA345097778 | GJC2 | c.416C>A (p.Ala139Asp)
| gnomAD v4 |
1 | g.228158174C>G | CA345097780 | GJC2 | c.416C>G (p.Ala139Gly)
| |
1 | g.228158174C>T | CA345097782 | GJC2 | c.416C>T (p.Ala139Val)
| gnomAD v4 |
1 | g.228158175C>A | CA16603566 | GJC2 | c.417C>A (p.Ala139=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158175C= | CA1225623866 | GJC2 | c.417C= (p.Ala139=)
| |
1 | g.228158175C>G | CA38727621 | GJC2 | c.417C>G (p.Ala139=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158175C>T | CA423738946 | GJC2 | c.417C>T (p.Ala139=)
| gnomAD v4 |
1 | g.228158176G>A | CA38727625 | GJC2 | c.418G>A (p.Asp140Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158176G>C | CA345097786 | GJC2 | c.418G>C (p.Asp140His)
| |
1 | g.228158176G= | CA1147006932 | GJC2 | c.418G= (p.Asp140=)
| |
1 | g.228158176G>T | CA345097788 | GJC2 | c.418G>T (p.Asp140Tyr)
| gnomAD v4 |
1 | g.228158177A>C | CA345097790 | GJC2 | c.419A>C (p.Asp140Ala)
| |
1 | g.228158177A>G | CA345097792 | GJC2 | c.419A>G (p.Asp140Gly)
| gnomAD v4 |
1 | g.228158177A>T | CA345097794 | GJC2 | c.419A>T (p.Asp140Val)
| |
1 | g.228158177_228158204delinsACCTGGGCGAGGAGGAGCCCATGCTGGG | CA1225623875 | GJC2 | c.419_446delinsACCTGGGCGAGGAGGAGCCCATGCTGGG (p.Asp140=)
| |
1 | g.228158178C>A | CA345097796 | GJC2 | c.420C>A (p.Asp140Glu)
| gnomAD v4 |
1 | g.228158178C= | CA1225623882 | GJC2 | c.420C= (p.Asp140=)
| |
1 | g.228158178C>G | CA345097797 | GJC2 | c.420C>G (p.Asp140Glu)
| |
1 | g.228158178C>T | CA423738956 | GJC2 | c.420C>T (p.Asp140=)
| dbSNP gnomAD v4 |
1 | g.228158194_228158220dup | CA2650854239 | GJC2 | c.436_462dup (p.Glu154_Glu155insProMetLeuGlyLeuGlyGluGluGlu)
| gnomAD v4 |
1 | g.228158194_228158220del | CA1430853 | GJC2 | c.436_462del (p.Pro146_Glu154del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158179C>A | CA345097799 | GJC2 | c.421C>A (p.Leu141Met)
| gnomAD v4 |
1 | g.228158179C= | CA1225623886 | GJC2 | c.421C= (p.Leu141=)
| |
1 | g.228158179C>G | CA345097801 | GJC2 | c.421C>G (p.Leu141Val)
| gnomAD v4 |
1 | g.228158179C>T | CA423738958 | GJC2 | c.421C>T (p.Leu141=)
| dbSNP gnomAD v4 |
1 | g.228158180T>A | CA345097803 | GJC2 | c.422T>A (p.Leu141Gln)
| |
1 | g.228158180T>C | CA345097805 | GJC2 | c.422T>C (p.Leu141Pro)
| dbSNP gnomAD v4 |
1 | g.228158180T>G | CA345097807 | GJC2 | c.422T>G (p.Leu141Arg)
| |
1 | g.228158180T= | CA1225623888 | GJC2 | c.422T= (p.Leu141=)
| |
1 | g.228158181G>A | CA423738964 | GJC2 | c.423G>A (p.Leu141=)
| |
1 | g.228158181G>C | CA423738962 | GJC2 | c.423G>C (p.Leu141=)
| dbSNP |
1 | g.228158181G= | CA1225623890 | GJC2 | c.423G= (p.Leu141=)
| |
1 | g.228158181G>T | CA423738963 | GJC2 | c.423G>T (p.Leu141=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158183del | CA2650854251 | GJC2 | c.425del (p.Gly142AlafsTer?)
| gnomAD v4 |
1 | g.228158182G>A | CA345097813 | GJC2 | c.424G>A (p.Gly142Ser)
| |
1 | g.228158182G>C | CA345097810 | GJC2 | c.424G>C (p.Gly142Arg)
| |
1 | g.228158182G>T | CA345097812 | GJC2 | c.424G>T (p.Gly142Cys)
| gnomAD v4 |
1 | g.228158183G>A | CA345097816 | GJC2 | c.425G>A (p.Gly142Asp)
| gnomAD v4 |
1 | g.228158183G>C | CA345097818 | GJC2 | c.425G>C (p.Gly142Ala)
| |
1 | g.228158183G>T | CA345097820 | GJC2 | c.425G>T (p.Gly142Val)
| |
1 | g.228158184C>A | CA423738967 | GJC2 | c.426C>A (p.Gly142=)
| gnomAD v4 |
1 | g.228158184C>G | CA423738969 | GJC2 | c.426C>G (p.Gly142=)
| gnomAD v4 |
1 | g.228158184C>T | CA423738970 | GJC2 | c.426C>T (p.Gly142=)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158185G>A | CA345097823 | GJC2 | c.427G>A (p.Glu143Lys)
| gnomAD v4 |
1 | g.228158185G>C | CA345097824 | GJC2 | c.427G>C (p.Glu143Gln)
| gnomAD v4 |
1 | g.228158185G>T | CA345097827 | GJC2 | c.427G>T (p.Glu143Ter)
| gnomAD v4 |
1 | g.228158194_228158223del | CA2650854273 | GJC2 | c.436_465del (p.Pro146_Glu155del)
| gnomAD v4 |
1 | g.228158194_228158226dup | CA2650854274 | GJC2 | c.436_468dup (p.Glu156_Glu157insProMetLeuGlyLeuGlyGluGluGluGluGlu)
| gnomAD v4 |
1 | g.228158186A>C | CA345097832 | GJC2 | c.428A>C (p.Glu143Ala)
| |
1 | g.228158186A>G | CA345097830 | GJC2 | c.428A>G (p.Glu143Gly)
| gnomAD v4 |
1 | g.228158186A>T | CA345097828 | GJC2 | c.428A>T (p.Glu143Val)
| |
1 | g.228158187G>A | CA423738973 | GJC2 | c.429G>A (p.Glu143=)
| dbSNP gnomAD v4 |
1 | g.228158187G>C | CA345097834 | GJC2 | c.429G>C (p.Glu143Asp)
| |
1 | g.228158187G= | CA1225623894 | GJC2 | c.429G= (p.Glu143=)
| |
1 | g.228158187G>T | CA345097833 | GJC2 | c.429G>T (p.Glu143Asp)
| |
1 | g.228158188del | CA2748034331 | GJC2 | c.430del (p.Glu144ArgfsTer?)
| |
1 | g.228158187_228158211delinsGGAGGAGCCCATGCTGGGCCTGGGC | CA1225623892 | GJC2 | c.429_453delinsGGAGGAGCCCATGCTGGGCCTGGGC (p.Glu143=)
| |
1 | g.228158188G>A | CA345097837 | GJC2 | c.430G>A (p.Glu144Lys)
| |
1 | g.228158188G>C | CA345097835 | GJC2 | c.430G>C (p.Glu144Gln)
| |
1 | g.228158188G>T | CA345097839 | GJC2 | c.430G>T (p.Glu144Ter)
| gnomAD v4 |
1 | g.228158194_228158217del | CA529465554 | GJC2 | c.436_459del (p.Pro146_Glu153del)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158189del | CA2650854288 | GJC2 | c.431del (p.Glu144GlyfsTer?)
| gnomAD v4 |
1 | g.228158189A>C | CA345097841 | GJC2 | c.431A>C (p.Glu144Ala)
| |
1 | g.228158189A>G | CA345097843 | GJC2 | c.431A>G (p.Glu144Gly)
| gnomAD v4 |
1 | g.228158189A>T | CA345097845 | GJC2 | c.431A>T (p.Glu144Val)
| gnomAD v4 |
1 | g.228158190G>A | CA423738980 | GJC2 | c.432G>A (p.Glu144=)
| gnomAD v4 |
1 | g.228158190G>C | CA345097847 | GJC2 | c.432G>C (p.Glu144Asp)
| |
1 | g.228158190G>T | CA345097849 | GJC2 | c.432G>T (p.Glu144Asp)
| |
1 | g.228158191G>A | CA16617081 | GJC2 | c.433G>A (p.Glu145Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158191G>C | CA345097852 | GJC2 | c.433G>C (p.Glu145Gln)
| |
1 | g.228158191G= | CA1225623902 | GJC2 | c.433G= (p.Glu145=)
| |
1 | g.228158191G>T | CA345097854 | GJC2 | c.433G>T (p.Glu145Ter)
| gnomAD v4 |
1 | g.228158192A= | CA1225623908 | GJC2 | c.434A= (p.Glu145=)
| |
1 | g.228158192A>C | CA345097857 | GJC2 | c.434A>C (p.Glu145Ala)
| |
1 | g.228158192A>G | CA345097859 | GJC2 | c.434A>G (p.Glu145Gly)
| gnomAD v4 |
1 | g.228158192A>T | CA345097861 | GJC2 | c.434A>T (p.Glu145Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158193G>A | CA423738987 | GJC2 | c.435G>A (p.Glu145=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158193G>C | CA345097863 | GJC2 | c.435G>C (p.Glu145Asp)
| gnomAD v4 |
1 | g.228158193G= | CA1225623911 | GJC2 | c.435G= (p.Glu145=)
| |
1 | g.228158193G>T | CA345097865 | GJC2 | c.435G>T (p.Glu145Asp)
| gnomAD v4 |
1 | g.228158194C>A | CA345097871 | GJC2 | c.436C>A (p.Pro146Thr)
| gnomAD v4 |
1 | g.228158194C>G | CA345097867 | GJC2 | c.436C>G (p.Pro146Ala)
| |
1 | g.228158194C>T | CA345097869 | GJC2 | c.436C>T (p.Pro146Ser)
| gnomAD v4 |
1 | g.228158196del | CA2650854316 | GJC2 | c.438del (p.Met147CysfsTer?)
| gnomAD v4 |
1 | g.228158195C>A | CA345097873 | GJC2 | c.437C>A (p.Pro146His)
| gnomAD v4 |
1 | g.228158195C>G | CA345097875 | GJC2 | c.437C>G (p.Pro146Arg)
| |
1 | g.228158195C>T | CA345097877 | GJC2 | c.437C>T (p.Pro146Leu)
| |
1 | g.228158196C>A | CA423738991 | GJC2 | c.438C>A (p.Pro146=)
| gnomAD v4 |
1 | g.228158196C>G | CA423738992 | GJC2 | c.438C>G (p.Pro146=)
| |
1 | g.228158196C>T | CA423738994 | GJC2 | c.438C>T (p.Pro146=)
| gnomAD v4 |
1 | g.228158197A= | CA1225623914 | GJC2 | c.439A= (p.Met147=)
| |
1 | g.228158197A>C | CA345097879 | GJC2 | c.439A>C (p.Met147Leu)
| gnomAD v4 |
1 | g.228158197A>G | CA345097882 | GJC2 | c.439A>G (p.Met147Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158197A>T | CA345097883 | GJC2 | c.439A>T (p.Met147Leu)
| gnomAD v4 |
1 | g.228158198T>A | CA345097885 | GJC2 | c.440T>A (p.Met147Lys)
| gnomAD v4 |
1 | g.228158198T>C | CA38727626 | GJC2 | c.440T>C (p.Met147Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158198T>G | CA345097887 | GJC2 | c.440T>G (p.Met147Arg)
| |
1 | g.228158198T= | CA1225623918 | GJC2 | c.440T= (p.Met147=)
| |
1 | g.228158199G>A | CA345097889 | GJC2 | c.441G>A (p.Met147Ile)
| gnomAD v4 |
1 | g.228158199G>C | CA345097891 | GJC2 | c.441G>C (p.Met147Ile)
| dbSNP gnomAD v4 |
1 | g.228158199G= | CA1225623922 | GJC2 | c.441G= (p.Met147=)
| |
1 | g.228158199G>T | CA345097892 | GJC2 | c.441G>T (p.Met147Ile)
| gnomAD v4 |
1 | g.228158200C>A | CA345097894 | GJC2 | c.442C>A (p.Leu148Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158200C= | CA1225623924 | GJC2 | c.442C= (p.Leu148=)
| |
1 | g.228158200C>G | CA345097896 | GJC2 | c.442C>G (p.Leu148Val)
| gnomAD v4 |
1 | g.228158200C>T | CA423739001 | GJC2 | c.442C>T (p.Leu148=)
| gnomAD v4 |
1 | g.228158201del | CA2650854359 | GJC2 | c.443del (p.Leu148ArgfsTer?)
| gnomAD v4 |
1 | g.228158201T>A | CA345097898 | GJC2 | c.443T>A (p.Leu148Gln)
| |
1 | g.228158201T>C | CA345097899 | GJC2 | c.443T>C (p.Leu148Pro)
| gnomAD v4 |
1 | g.228158201T>G | CA345097900 | GJC2 | c.443T>G (p.Leu148Arg)
| |
1 | g.228158202G>A | CA423739006 | GJC2 | c.444G>A (p.Leu148=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158202G>C | CA423739008 | GJC2 | c.444G>C (p.Leu148=)
| |
1 | g.228158202G= | CA1225623926 | GJC2 | c.444G= (p.Leu148=)
| |
1 | g.228158202G>T | CA423739007 | GJC2 | c.444G>T (p.Leu148=)
| gnomAD v4 |
1 | g.228158203G>A | CA1430854 | GJC2 | c.445G>A (p.Gly149Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.228158203G>C | CA345097904 | GJC2 | c.445G>C (p.Gly149Arg)
| |
1 | g.228158203G= | CA1148050721 | GJC2 | c.445G= (p.Gly149=)
| |
1 | g.228158203G>T | CA345097905 | GJC2 | c.445G>T (p.Gly149Cys)
| gnomAD v4 |
1 | g.228158205_228158215dup | CA529465555 | GJC2 | c.447_457dup (p.Glu153AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158204G>A | CA345097911 | GJC2 | c.446G>A (p.Gly149Asp)
| gnomAD v4 |
1 | g.228158204G>C | CA345097908 | GJC2 | c.446G>C (p.Gly149Ala)
| gnomAD v4 |
1 | g.228158204G>T | CA345097910 | GJC2 | c.446G>T (p.Gly149Val)
| gnomAD v4 |
1 | g.228158205C>A | CA423739015 | GJC2 | c.447C>A (p.Gly149=)
| gnomAD v4 |
1 | g.228158205C>G | CA423739012 | GJC2 | c.447C>G (p.Gly149=)
| |
1 | g.228158205C>T | CA423739014 | GJC2 | c.447C>T (p.Gly149=)
| gnomAD v4 |
1 | g.228158206C>A | CA345097913 | GJC2 | c.448C>A (p.Leu150Met)
| gnomAD v4 |
1 | g.228158206C= | CA1225623935 | GJC2 | c.448C= (p.Leu150=)
| |
1 | g.228158206C>G | CA345097914 | GJC2 | c.448C>G (p.Leu150Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158206C>T | CA423739017 | GJC2 | c.448C>T (p.Leu150=)
| gnomAD v4 |
1 | g.228158207T>A | CA345097915 | GJC2 | c.449T>A (p.Leu150Gln)
| |
1 | g.228158207T>C | CA345097916 | GJC2 | c.449T>C (p.Leu150Pro)
| gnomAD v4 |
1 | g.228158207T>G | CA345097918 | GJC2 | c.449T>G (p.Leu150Arg)
| |
1 | g.228158208G>A | CA423739018 | GJC2 | c.450G>A (p.Leu150=)
| |
1 | g.228158208G>C | CA423739021 | GJC2 | c.450G>C (p.Leu150=)
| gnomAD v4 |
1 | g.228158208G>T | CA423739023 | GJC2 | c.450G>T (p.Leu150=)
| gnomAD v4 |
1 | g.228158209G>A | CA345097920 | GJC2 | c.451G>A (p.Gly151Ser)
| gnomAD v4 |
1 | g.228158209G>C | CA345097923 | GJC2 | c.451G>C (p.Gly151Arg)
| gnomAD v4 |
1 | g.228158209G>T | CA345097921 | GJC2 | c.451G>T (p.Gly151Cys)
| gnomAD v4 |
1 | g.228158210G>A | CA345097926 | GJC2 | c.452G>A (p.Gly151Asp)
| gnomAD v4 |
1 | g.228158210G>C | CA345097928 | GJC2 | c.452G>C (p.Gly151Ala)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158210G= | CA1225623940 | GJC2 | c.452G= (p.Gly151=)
| |
1 | g.228158210G>T | CA1430855 | GJC2 | c.452G>T (p.Gly151Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158210_228158211insGGA | CA2650854429 | GJC2 | c.452_453insGGA (p.Gly151_Glu152insAsp)
| gnomAD v4 |
1 | g.228158211C>A | CA423738751 | GJC2 | c.453C>A (p.Gly151=)
| gnomAD v4 |
1 | g.228158211C= | CA1225623947 | GJC2 | c.453C= (p.Gly151=)
| |
1 | g.228158211C>G | CA423738754 | GJC2 | c.453C>G (p.Gly151=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158211C>T | CA1430857 | GJC2 | c.453C>T (p.Gly151=)
| ClinVar dbSNP ExAC gnomAD v4 |
1 | g.228158211_228158217delinsCGAGGAG | CA1225623944 | GJC2 | c.453_459delinsCGAGGAG (p.Gly151=)
| |
1 | g.228158212G>A | CA1430858 | GJC2 | c.454G>A (p.Glu152Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158212G>C | CA345097935 | GJC2 | c.454G>C (p.Glu152Gln)
| |
1 | g.228158212G= | CA1225623959 | GJC2 | c.454G= (p.Glu152=)
| |
1 | g.228158212G>T | CA345097937 | GJC2 | c.454G>T (p.Glu152Ter)
| gnomAD v4 |
1 | g.228158212_228158232delinsGAGGAGGAGGAGGAGGAGGAG | CA1148282477 | GJC2 | c.454_474delinsGAGGAGGAGGAGGAGGAGGAG (p.Glu152=)
| |
1 | g.228158230_228158232dup | CA10581766 | GJC2 | c.472_474dup (p.Glu158_Thr159insGlu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158227_228158232dup | CA529465556 | GJC2 | c.469_474dup (p.Glu158_Thr159insGluGlu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158224_228158232dup | CA732478306 | GJC2 | c.466_474dup (p.Glu158_Thr159insGluGluGlu)
| dbSNP gnomAD v4 |
1 | g.228158230_228158232del | CA1430856 | GJC2 | c.472_474del (p.Glu158del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.228158227_228158232del | CA529465557 | GJC2 | c.469_474del (p.Glu157_Glu158del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158224_228158232del | CA2650854446 | GJC2 | c.466_474del (p.Glu156_Glu158del)
| gnomAD v4 |
1 | g.228158221_228158232del | CA2574010374 | GJC2 | c.463_474del (p.Glu155_Glu158del)
| gnomAD v4 |
1 | g.228158213A= | CA1225623966 | GJC2 | c.455A= (p.Glu152=)
| |
1 | g.228158213A>C | CA345097943 | GJC2 | c.455A>C (p.Glu152Ala)
| |
1 | g.228158213A>G | CA345097945 | GJC2 | c.455A>G (p.Glu152Gly)
| dbSNP gnomAD v4 |
1 | g.228158213A>T | CA345097947 | GJC2 | c.455A>T (p.Glu152Val)
| |
1 | g.228158214G>A | CA423738764 | GJC2 | c.456G>A (p.Glu152=)
| gnomAD v4 |
1 | g.228158214G>C | CA345097950 | GJC2 | c.456G>C (p.Glu152Asp)
| |
1 | g.228158214G>T | CA345097949 | GJC2 | c.456G>T (p.Glu152Asp)
| gnomAD v4 |
1 | g.228158215G>A | CA345097954 | GJC2 | c.457G>A (p.Glu153Lys)
| gnomAD v4 |
1 | g.228158215G>C | CA345097953 | GJC2 | c.457G>C (p.Glu153Gln)
| |
1 | g.228158215G>T | CA345097955 | GJC2 | c.457G>T (p.Glu153Ter)
| |
1 | g.228158216A= | CA1225623969 | GJC2 | c.458A= (p.Glu153=)
| |
1 | g.228158216A>C | CA345097961 | GJC2 | c.458A>C (p.Glu153Ala)
| |
1 | g.228158216A>G | CA345097957 | GJC2 | c.458A>G (p.Glu153Gly)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158216A>T | CA345097959 | GJC2 | c.458A>T (p.Glu153Val)
| |
1 | g.228158217G>A | CA423738768 | GJC2 | c.459G>A (p.Glu153=)
| gnomAD v4 |
1 | g.228158217G>C | CA345097963 | GJC2 | c.459G>C (p.Glu153Asp)
| |
1 | g.228158217G>T | CA345097965 | GJC2 | c.459G>T (p.Glu153Asp)
| gnomAD v4 |
1 | g.228158218G>A | CA345097967 | GJC2 | c.460G>A (p.Glu154Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158218G>C | CA345097968 | GJC2 | c.460G>C (p.Glu154Gln)
| gnomAD v4 |
1 | g.228158218G= | CA1225623970 | GJC2 | c.460G= (p.Glu154=)
| |
1 | g.228158218G>T | CA345097970 | GJC2 | c.460G>T (p.Glu154Ter)
| |
1 | g.228158219del | CA2650854475 | GJC2 | c.461del (p.Glu154GlyfsTer?)
| gnomAD v4 |
1 | g.228158219A>C | CA345097973 | GJC2 | c.461A>C (p.Glu154Ala)
| dbSNP gnomAD v4 |
1 | g.228158219A>G | CA345097974 | GJC2 | c.461A>G (p.Glu154Gly)
| gnomAD v4 |
1 | g.228158219A>T | CA345097975 | GJC2 | c.461A>T (p.Glu154Val)
| gnomAD v4 |
1 | g.228158220G>A | CA38727653 | GJC2 | c.462G>A (p.Glu154=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158220G>C | CA345097979 | GJC2 | c.462G>C (p.Glu154Asp)
| gnomAD v4 |
1 | g.228158220G= | CA1225623971 | GJC2 | c.462G= (p.Glu154=)
| |
1 | g.228158220G>T | CA345097981 | GJC2 | c.462G>T (p.Glu154Asp)
| gnomAD v4 |
1 | g.228158221G>A | CA345097999 | GJC2 | c.463G>A (p.Glu155Lys)
| gnomAD v4 |
1 | g.228158221G>C | CA345097983 | GJC2 | c.463G>C (p.Glu155Gln)
| |
1 | g.228158221G>T | CA345097986 | GJC2 | c.463G>T (p.Glu155Ter)
| gnomAD v4 |
1 | g.228158222_228158223del | CA2650854487 | GJC2 | c.464_465del (p.Glu155GlyfsTer25)
| gnomAD v4 |
1 | g.228158222del | CA2650854495 | GJC2 | c.464del (p.Glu155GlyfsTer?)
| gnomAD v4 |
1 | g.228158222A>C | CA345098001 | GJC2 | c.464A>C (p.Glu155Ala)
| |
1 | g.228158222A>G | CA345098003 | GJC2 | c.464A>G (p.Glu155Gly)
| gnomAD v4 |
1 | g.228158222A>T | CA345098005 | GJC2 | c.464A>T (p.Glu155Val)
| gnomAD v4 |
1 | g.228158223G>A | CA423738782 | GJC2 | c.465G>A (p.Glu155=)
| gnomAD v4 |
1 | g.228158223G>C | CA345098008 | GJC2 | c.465G>C (p.Glu155Asp)
| gnomAD v4 |
1 | g.228158223G= | CA1225623972 | GJC2 | c.465G= (p.Glu155=)
| |
1 | g.228158223G>T | CA345098011 | GJC2 | c.465G>T (p.Glu155Asp)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158223_228158224del | CA2650854498 | GJC2 | c.465_466del (p.Glu156GlyfsTer24)
| gnomAD v4 |
1 | g.228158224del | CA2650854499 | GJC2 | c.466del (p.Glu156ArgfsTer?)
| gnomAD v4 |
1 | g.228158224G>A | CA345098015 | GJC2 | c.466G>A (p.Glu156Lys)
| gnomAD v4 |
1 | g.228158224G>C | CA345098017 | GJC2 | c.466G>C (p.Glu156Gln)
| gnomAD v4 |
1 | g.228158224G>T | CA345098018 | GJC2 | c.466G>T (p.Glu156Ter)
| gnomAD v4 |
1 | g.228158224_228158225delinsAT | CA915942052 | GJC2 | c.466_467delinsAT (p.Glu156Met)
| ClinVar dbSNP |
1 | g.228158224_228158225delinsGA | CA1225623973 | GJC2 | c.466_467delinsGA (p.Glu156=)
| |
1 | g.228158225A>C | CA345098022 | GJC2 | c.467A>C (p.Glu156Ala)
| |
1 | g.228158225A>G | CA345098024 | GJC2 | c.467A>G (p.Glu156Gly)
| gnomAD v4 |
1 | g.228158225A>T | CA345098027 | GJC2 | c.467A>T (p.Glu156Val)
| gnomAD v4 |
1 | g.228158226G>A | CA423738788 | GJC2 | c.468G>A (p.Glu156=)
| gnomAD v4 |
1 | g.228158226G>C | CA345098032 | GJC2 | c.468G>C (p.Glu156Asp)
| gnomAD v4 |
1 | g.228158226G>T | CA345098030 | GJC2 | c.468G>T (p.Glu156Asp)
| gnomAD v4 |
1 | g.228158227del | CA2650854517 | GJC2 | c.469del (p.Glu157ArgfsTer?)
| gnomAD v4 |
1 | g.228158227G>A | CA345098039 | GJC2 | c.469G>A (p.Glu157Lys)
| gnomAD v4 |
1 | g.228158227G>C | CA1430859 | GJC2 | c.469G>C (p.Glu157Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158227G= | CA1148411678 | GJC2 | c.469G= (p.Glu157=)
| |
1 | g.228158227G>T | CA345098037 | GJC2 | c.469G>T (p.Glu157Ter)
| gnomAD v4 |
1 | g.228158228del | CA2748034337 | GJC2 | c.470del (p.Glu157GlyfsTer?)
| |
1 | g.228158228A= | CA1225623974 | GJC2 | c.470A= (p.Glu157=)
| |
1 | g.228158228A>C | CA345098042 | GJC2 | c.470A>C (p.Glu157Ala)
| |
1 | g.228158228A>G | CA345098044 | GJC2 | c.470A>G (p.Glu157Gly)
| gnomAD v4 |
1 | g.228158228A>T | CA345098047 | GJC2 | c.470A>T (p.Glu157Val)
| gnomAD v4 |
1 | g.228158228_228158233dup | CA2748034338 | GJC2 | c.470_475dup (p.Glu158_Thr159insLysGlu)
| |