2 | g.44942131_44942132dup | CA532706759 | SIX3 | c.27_28dup (p.Tyr10SerfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942131_44942132del | CA2580611267 | SIX3 | c.27_28del (p.Tyr10PhefsTer22)
| ClinVar dbSNP |
2 | g.44942132T>A | CA346798727 | SIX3 | c.28T>A (p.Tyr10Asn)
| |
2 | g.44942132T>C | CA346798728 | SIX3 | c.28T>C (p.Tyr10His)
| gnomAD v4 |
2 | g.44942132T>G | CA346798729 | SIX3 | c.28T>G (p.Tyr10Asp)
| |
2 | g.44942133A= | CA2494534869 | SIX3 | c.29A= (p.Tyr10=)
| |
2 | g.44942133A>C | CA346798730 | SIX3 | c.29A>C (p.Tyr10Ser)
| dbSNP |
2 | g.44942133A>G | CA346798731 | SIX3 | c.29A>G (p.Tyr10Cys)
| |
2 | g.44942133A>T | CA346798732 | SIX3 | c.29A>T (p.Tyr10Phe)
| |
2 | g.44942134T>A | CA346798733 | SIX3 | c.30T>A (p.Tyr10Ter)
| |
2 | g.44942134T>C | CA426045579 | SIX3 | c.30T>C (p.Tyr10=)
| |
2 | g.44942134T>G | CA346798734 | SIX3 | c.30T>G (p.Tyr10Ter)
| gnomAD v4 |
2 | g.44942135T>A | CA346798737 | SIX3 | c.31T>A (p.Ser11Thr)
| |
2 | g.44942135T>C | CA346798736 | SIX3 | c.31T>C (p.Ser11Pro)
| |
2 | g.44942135T>G | CA346798735 | SIX3 | c.31T>G (p.Ser11Ala)
| |
2 | g.44942136C>A | CA346798738 | SIX3 | c.32C>A (p.Ser11Tyr)
| gnomAD v4 |
2 | g.44942136C>G | CA346798739 | SIX3 | c.32C>G (p.Ser11Cys)
| |
2 | g.44942136C>T | CA346798740 | SIX3 | c.32C>T (p.Ser11Phe)
| gnomAD v4 |
2 | g.44942137C>A | CA426045580 | SIX3 | c.33C>A (p.Ser11=)
| |
2 | g.44942137C>G | CA426045581 | SIX3 | c.33C>G (p.Ser11=)
| |
2 | g.44942137C>T | CA426045582 | SIX3 | c.33C>T (p.Ser11=)
| |
2 | g.44942138T>A | CA1642240 | SIX3 | c.34T>A (p.Ser12Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942138T>C | CA346798741 | SIX3 | c.34T>C (p.Ser12Pro)
| |
2 | g.44942138T>G | CA346798742 | SIX3 | c.34T>G (p.Ser12Ala)
| |
2 | g.44942138T= | CA2494534870 | SIX3 | c.34T= (p.Ser12=)
| |
2 | g.44942139C>A | CA346798743 | SIX3 | c.35C>A (p.Ser12Tyr)
| |
2 | g.44942139C>G | CA346798744 | SIX3 | c.35C>G (p.Ser12Cys)
| |
2 | g.44942139C>T | CA346798745 | SIX3 | c.35C>T (p.Ser12Phe)
| |
2 | g.44942141del | CA2658869210 | SIX3 | c.37del (p.His13ThrfsTer?)
| gnomAD v4 |
2 | g.44942140C>A | CA1642241 | SIX3 | c.36C>A (p.Ser12=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942140C= | CA2494534871 | SIX3 | c.36C= (p.Ser12=)
| |
2 | g.44942140C>G | CA426045584 | SIX3 | c.36C>G (p.Ser12=)
| |
2 | g.44942140C>T | CA426045583 | SIX3 | c.36C>T (p.Ser12=)
| COSMIC |
2 | g.44942141C>A | CA346798746 | SIX3 | c.37C>A (p.His13Asn)
| |
2 | g.44942141C= | CA2494534872 | SIX3 | c.37C= (p.His13=)
| |
2 | g.44942141C>G | CA346798747 | SIX3 | c.37C>G (p.His13Asp)
| |
2 | g.44942141C>T | CA346798748 | SIX3 | c.37C>T (p.His13Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942142A= | CA2494534873 | SIX3 | c.38A= (p.His13=)
| |
2 | g.44942142A>C | CA346798750 | SIX3 | c.38A>C (p.His13Pro)
| |
2 | g.44942142A>G | CA346798751 | SIX3 | c.38A>G (p.His13Arg)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942142A>T | CA346798749 | SIX3 | c.38A>T (p.His13Leu)
| |
2 | g.44942143C>A | CA346798752 | SIX3 | c.39C>A (p.His13Gln)
| |
2 | g.44942143C= | CA2494534874 | SIX3 | c.39C= (p.His13=)
| |
2 | g.44942143C>G | CA346798753 | SIX3 | c.39C>G (p.His13Gln)
| |
2 | g.44942143C>T | CA1642242 | SIX3 | c.39C>T (p.His13=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942144T>A | CA346798754 | SIX3 | c.40T>A (p.Phe14Ile)
| |
2 | g.44942144T>C | CA346798755 | SIX3 | c.40T>C (p.Phe14Leu)
| |
2 | g.44942144T>G | CA346798756 | SIX3 | c.40T>G (p.Phe14Val)
| gnomAD v4 |
2 | g.44942145T>A | CA346798757 | SIX3 | c.41T>A (p.Phe14Tyr)
| |
2 | g.44942145T>C | CA346798758 | SIX3 | c.41T>C (p.Phe14Ser)
| |
2 | g.44942145T>G | CA1642243 | SIX3 | c.41T>G (p.Phe14Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942145T= | CA2494534875 | SIX3 | c.41T= (p.Phe14=)
| |
2 | g.44942146C>A | CA346798759 | SIX3 | c.42C>A (p.Phe14Leu)
| |
2 | g.44942146C= | CA2494534876 | SIX3 | c.42C= (p.Phe14=)
| |
2 | g.44942146C>G | CA346798760 | SIX3 | c.42C>G (p.Phe14Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942146C>T | CA1642244 | SIX3 | c.42C>T (p.Phe14=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942147T>A | CA346798762 | SIX3 | c.43T>A (p.Leu15Met)
| |
2 | g.44942147T>C | CA426045585 | SIX3 | c.43T>C (p.Leu15=)
| ClinVar dbSNP gnomAD v4 |
2 | g.44942147T>G | CA346798761 | SIX3 | c.43T>G (p.Leu15Val)
| |
2 | g.44942147T= | CA2494534877 | SIX3 | c.43T= (p.Leu15=)
| |
2 | g.44942148T>A | CA346798763 | SIX3 | c.44T>A (p.Leu15Ter)
| |
2 | g.44942148T>C | CA346798764 | SIX3 | c.44T>C (p.Leu15Ser)
| |
2 | g.44942148T>G | CA346798765 | SIX3 | c.44T>G (p.Leu15Trp)
| |
2 | g.44942149G>A | CA426045586 | SIX3 | c.45G>A (p.Leu15=)
| |
2 | g.44942149G>C | CA346798766 | SIX3 | c.45G>C (p.Leu15Phe)
| |
2 | g.44942149G= | CA2494534878 | SIX3 | c.45G= (p.Leu15=)
| |
2 | g.44942149G>T | CA1642245 | SIX3 | c.45G>T (p.Leu15Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942150T>A | CA346798767 | SIX3 | c.46T>A (p.Leu16Met)
| |
2 | g.44942150T>C | CA426045587 | SIX3 | c.46T>C (p.Leu16=)
| |
2 | g.44942150T>G | CA346798768 | SIX3 | c.46T>G (p.Leu16Val)
| |
2 | g.44942151T>A | CA346798769 | SIX3 | c.47T>A (p.Leu16Ter)
| |
2 | g.44942151T>C | CA346798770 | SIX3 | c.47T>C (p.Leu16Ser)
| |
2 | g.44942151T>G | CA346798771 | SIX3 | c.47T>G (p.Leu16Trp)
| |
2 | g.44942152G>A | CA426045588 | SIX3 | c.48G>A (p.Leu16=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942152G>C | CA346798772 | SIX3 | c.48G>C (p.Leu16Phe)
| |
2 | g.44942152G= | CA2494534879 | SIX3 | c.48G= (p.Leu16=)
| |
2 | g.44942152G>T | CA346798773 | SIX3 | c.48G>T (p.Leu16Phe)
| |
2 | g.44942153C>A | CA346798775 | SIX3 | c.49C>A (p.Pro17Thr)
| |
2 | g.44942153C>G | CA346798776 | SIX3 | c.49C>G (p.Pro17Ala)
| |
2 | g.44942153C>T | CA346798774 | SIX3 | c.49C>T (p.Pro17Ser)
| |
2 | g.44942154C>A | CA346798777 | SIX3 | c.50C>A (p.Pro17Gln)
| |
2 | g.44942154C>G | CA346798778 | SIX3 | c.50C>G (p.Pro17Arg)
| |
2 | g.44942154C>T | CA346798779 | SIX3 | c.50C>T (p.Pro17Leu)
| |
2 | g.44942155A>C | CA426045589 | SIX3 | c.51A>C (p.Pro17=)
| |
2 | g.44942155A>G | CA426045590 | SIX3 | c.51A>G (p.Pro17=)
| |
2 | g.44942155A>T | CA426045591 | SIX3 | c.51A>T (p.Pro17=)
| |
2 | g.44942156A= | CA2494534880 | SIX3 | c.52A= (p.Asn18=)
| |
2 | g.44942156A>C | CA346798780 | SIX3 | c.52A>C (p.Asn18His)
| |
2 | g.44942156A>G | CA47011033 | SIX3 | c.52A>G (p.Asn18Asp)
| dbSNP |
2 | g.44942156A>T | CA346798781 | SIX3 | c.52A>T (p.Asn18Tyr)
| ClinVar dbSNP |
2 | g.44942157A>C | CA346798784 | SIX3 | c.53A>C (p.Asn18Thr)
| |
2 | g.44942157A>G | CA346798782 | SIX3 | c.53A>G (p.Asn18Ser)
| |
2 | g.44942157A>T | CA346798783 | SIX3 | c.53A>T (p.Asn18Ile)
| |
2 | g.44942158C>A | CA346798785 | SIX3 | c.54C>A (p.Asn18Lys)
| COSMIC |
2 | g.44942158C= | CA2494534881 | SIX3 | c.54C= (p.Asn18=)
| |
2 | g.44942158C>G | CA47011034 | SIX3 | c.54C>G (p.Asn18Lys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942158C>T | CA426045592 | SIX3 | c.54C>T (p.Asn18=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942159T>A | CA346798786 | SIX3 | c.55T>A (p.Phe19Ile)
| |
2 | g.44942159T>C | CA346798787 | SIX3 | c.55T>C (p.Phe19Leu)
| gnomAD v4 |
2 | g.44942159T>G | CA346798788 | SIX3 | c.55T>G (p.Phe19Val)
| |
2 | g.44942160T>A | CA346798791 | SIX3 | c.56T>A (p.Phe19Tyr)
| |
2 | g.44942160T>C | CA346798789 | SIX3 | c.56T>C (p.Phe19Ser)
| |
2 | g.44942160T>G | CA346798790 | SIX3 | c.56T>G (p.Phe19Cys)
| |
2 | g.44942161C>A | CA346798792 | SIX3 | c.57C>A (p.Phe19Leu)
| gnomAD v4 |
2 | g.44942161C= | CA2494534884 | SIX3 | c.57C= (p.Phe19=)
| |
2 | g.44942161C>G | CA346798793 | SIX3 | c.57C>G (p.Phe19Leu)
| dbSNP gnomAD v4 |
2 | g.44942161C>T | CA426045593 | SIX3 | c.57C>T (p.Phe19=)
| ClinVar dbSNP |
2 | g.44942162G>A | CA346798794 | SIX3 | c.58G>A (p.Ala20Thr)
| |
2 | g.44942162G>C | CA346798795 | SIX3 | c.58G>C (p.Ala20Pro)
| |
2 | g.44942162G= | CA2494534893 | SIX3 | c.58G= (p.Ala20=)
| |
2 | g.44942162G>T | CA1642246 | SIX3 | c.58G>T (p.Ala20Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942163C>A | CA346798796 | SIX3 | c.59C>A (p.Ala20Asp)
| |
2 | g.44942163C>G | CA346798797 | SIX3 | c.59C>G (p.Ala20Gly)
| gnomAD v4 |
2 | g.44942163C>T | CA346798798 | SIX3 | c.59C>T (p.Ala20Val)
| |
2 | g.44942164C>A | CA1642247 | SIX3 | c.60C>A (p.Ala20=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942164C= | CA2494534897 | SIX3 | c.60C= (p.Ala20=)
| |
2 | g.44942164C>G | CA426045594 | SIX3 | c.60C>G (p.Ala20=)
| |
2 | g.44942164C>T | CA1642248 | SIX3 | c.60C>T (p.Ala20=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942165_44942173del | CA2658869256 | SIX3 | c.61_69del (p.Asp21_His23del)
| gnomAD v4 |
2 | g.44942165G>A | CA346798799 | SIX3 | c.61G>A (p.Asp21Asn)
| ClinVar COSMIC |
2 | g.44942165G>C | CA346798800 | SIX3 | c.61G>C (p.Asp21His)
| |
2 | g.44942165G= | CA2494534899 | SIX3 | c.61G= (p.Asp21=)
| |
2 | g.44942165G>T | CA1642249 | SIX3 | c.61G>T (p.Asp21Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942166A>C | CA346798801 | SIX3 | c.62A>C (p.Asp21Ala)
| |
2 | g.44942166A>G | CA346798803 | SIX3 | c.62A>G (p.Asp21Gly)
| |
2 | g.44942166A>T | CA346798802 | SIX3 | c.62A>T (p.Asp21Val)
| |
2 | g.44942167T>A | CA346798804 | SIX3 | c.63T>A (p.Asp21Glu)
| gnomAD v4 |
2 | g.44942167T>C | CA426045596 | SIX3 | c.63T>C (p.Asp21=)
| |
2 | g.44942167T>G | CA346798805 | SIX3 | c.63T>G (p.Asp21Glu)
| |
2 | g.44942168T>A | CA346798806 | SIX3 | c.64T>A (p.Ser22Thr)
| |
2 | g.44942168T>C | CA346798807 | SIX3 | c.64T>C (p.Ser22Pro)
| |
2 | g.44942168T>G | CA346798808 | SIX3 | c.64T>G (p.Ser22Ala)
| |
2 | g.44942169C>A | CA346798809 | SIX3 | c.65C>A (p.Ser22Tyr)
| |
2 | g.44942169C>G | CA346798810 | SIX3 | c.65C>G (p.Ser22Cys)
| |
2 | g.44942169C>T | CA346798811 | SIX3 | c.65C>T (p.Ser22Phe)
| gnomAD v4 |
2 | g.44942170T>A | CA426045597 | SIX3 | c.66T>A (p.Ser22=)
| |
2 | g.44942170T>C | CA426045598 | SIX3 | c.66T>C (p.Ser22=)
| gnomAD v4 |
2 | g.44942170T>G | CA426045599 | SIX3 | c.66T>G (p.Ser22=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942170T= | CA2494534901 | SIX3 | c.66T= (p.Ser22=)
| |
2 | g.44942171C>A | CA346798812 | SIX3 | c.67C>A (p.His23Asn)
| gnomAD v4 |
2 | g.44942171C>G | CA346798813 | SIX3 | c.67C>G (p.His23Asp)
| |
2 | g.44942171C>T | CA346798814 | SIX3 | c.67C>T (p.His23Tyr)
| |
2 | g.44942172A>C | CA346798815 | SIX3 | c.68A>C (p.His23Pro)
| |
2 | g.44942172A>G | CA346798816 | SIX3 | c.68A>G (p.His23Arg)
| |
2 | g.44942172A>T | CA346798817 | SIX3 | c.68A>T (p.His23Leu)
| |
2 | g.44942173C>A | CA346798818 | SIX3 | c.69C>A (p.His23Gln)
| |
2 | g.44942173C= | CA2494534903 | SIX3 | c.69C= (p.His23=)
| |
2 | g.44942173C>G | CA346798819 | SIX3 | c.69C>G (p.His23Gln)
| |
2 | g.44942173C>T | CA426045600 | SIX3 | c.69C>T (p.His23=)
| dbSNP gnomAD v4 |
2 | g.44942174C>A | CA346798820 | SIX3 | c.70C>A (p.His24Asn)
| |
2 | g.44942174C>G | CA346798821 | SIX3 | c.70C>G (p.His24Asp)
| gnomAD v4 |
2 | g.44942174C>T | CA346798822 | SIX3 | c.70C>T (p.His24Tyr)
| |
2 | g.44942175A>C | CA346798823 | SIX3 | c.71A>C (p.His24Pro)
| |
2 | g.44942175A>G | CA346798824 | SIX3 | c.71A>G (p.His24Arg)
| |
2 | g.44942175A>T | CA346798825 | SIX3 | c.71A>T (p.His24Leu)
| |
2 | g.44942176C>A | CA346798826 | SIX3 | c.72C>A (p.His24Gln)
| |
2 | g.44942176C= | CA2494534905 | SIX3 | c.72C= (p.His24=)
| |
2 | g.44942176C>G | CA47011035 | SIX3 | c.72C>G (p.His24Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942176C>T | CA426045601 | SIX3 | c.72C>T (p.His24=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942177C>A | CA346798827 | SIX3 | c.73C>A (p.Arg25Ser)
| gnomAD v4 |
2 | g.44942177C= | CA2494534908 | SIX3 | c.73C= (p.Arg25=)
| |
2 | g.44942177C>G | CA346798828 | SIX3 | c.73C>G (p.Arg25Gly)
| |
2 | g.44942177C>T | CA346798829 | SIX3 | c.73C>T (p.Arg25Cys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942178G>A | CA346798832 | SIX3 | c.74G>A (p.Arg25His)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942178G>C | CA346798831 | SIX3 | c.74G>C (p.Arg25Pro)
| gnomAD v4 |
2 | g.44942178G= | CA2494534909 | SIX3 | c.74G= (p.Arg25=)
| |
2 | g.44942178G>T | CA346798830 | SIX3 | c.74G>T (p.Arg25Leu)
| |
2 | g.44942179C>A | CA426045602 | SIX3 | c.75C>A (p.Arg25=)
| gnomAD v4 |
2 | g.44942179C= | CA2494534911 | SIX3 | c.75C= (p.Arg25=)
| |
2 | g.44942179C>G | CA426045603 | SIX3 | c.75C>G (p.Arg25=)
| |
2 | g.44942179C>T | CA1642250 | SIX3 | c.75C>T (p.Arg25=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942180T>A | CA346798834 | SIX3 | c.76T>A (p.Ser26Thr)
| |
2 | g.44942180T>C | CA346798833 | SIX3 | c.76T>C (p.Ser26Pro)
| |
2 | g.44942180T>G | CA346798835 | SIX3 | c.76T>G (p.Ser26Ala)
| |
2 | g.44942181C>A | CA346798836 | SIX3 | c.77C>A (p.Ser26Tyr)
| |
2 | g.44942181C= | CA2494534913 | SIX3 | c.77C= (p.Ser26=)
| |
2 | g.44942181C>G | CA346798838 | SIX3 | c.77C>G (p.Ser26Cys)
| |
2 | g.44942181C>T | CA346798837 | SIX3 | c.77C>T (p.Ser26Phe)
| dbSNP |
2 | g.44942182C>A | CA426045604 | SIX3 | c.78C>A (p.Ser26=)
| |
2 | g.44942182C>G | CA426045605 | SIX3 | c.78C>G (p.Ser26=)
| |
2 | g.44942182C>T | CA426045606 | SIX3 | c.78C>T (p.Ser26=)
| gnomAD v4 |
2 | g.44942183A= | CA2494534914 | SIX3 | c.79A= (p.Ile27=)
| |
2 | g.44942183A>C | CA346798839 | SIX3 | c.79A>C (p.Ile27Leu)
| |
2 | g.44942183A>G | CA1642251 | SIX3 | c.79A>G (p.Ile27Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942183A>T | CA346798840 | SIX3 | c.79A>T (p.Ile27Leu)
| |
2 | g.44942184T>A | CA346798841 | SIX3 | c.80T>A (p.Ile27Lys)
| |
2 | g.44942184T>C | CA346798842 | SIX3 | c.80T>C (p.Ile27Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942184T>G | CA346798843 | SIX3 | c.80T>G (p.Ile27Arg)
| |
2 | g.44942184T= | CA2494534917 | SIX3 | c.80T= (p.Ile27=)
| |
2 | g.44942185A= | CA2494534919 | SIX3 | c.81A= (p.Ile27=)
| |
2 | g.44942185A>C | CA426045607 | SIX3 | c.81A>C (p.Ile27=)
| |
2 | g.44942185A>G | CA1642252 | SIX3 | c.81A>G (p.Ile27Met)
| dbSNP ExAC gnomAD v2 |
2 | g.44942185A>T | CA426045608 | SIX3 | c.81A>T (p.Ile27=)
| |
2 | g.44942186C>A | CA346798844 | SIX3 | c.82C>A (p.Leu28Ile)
| dbSNP |
2 | g.44942186C= | CA2494534920 | SIX3 | c.82C= (p.Leu28=)
| |
2 | g.44942186C>G | CA346798845 | SIX3 | c.82C>G (p.Leu28Val)
| |
2 | g.44942186C>T | CA346798846 | SIX3 | c.82C>T (p.Leu28Phe)
| |
2 | g.44942187T>A | CA346798847 | SIX3 | c.83T>A (p.Leu28His)
| |
2 | g.44942187T>C | CA346798848 | SIX3 | c.83T>C (p.Leu28Pro)
| |
2 | g.44942187T>G | CA346798849 | SIX3 | c.83T>G (p.Leu28Arg)
| |
2 | g.44942188T>A | CA426045609 | SIX3 | c.84T>A (p.Leu28=)
| |
2 | g.44942188T>C | CA426045610 | SIX3 | c.84T>C (p.Leu28=)
| |
2 | g.44942188T>G | CA426045611 | SIX3 | c.84T>G (p.Leu28=)
| |
2 | g.44942189C>A | CA346798850 | SIX3 | c.85C>A (p.Leu29Met)
| |
2 | g.44942189C= | CA2494534922 | SIX3 | c.85C= (p.Leu29=)
| |
2 | g.44942189C>G | CA346798851 | SIX3 | c.85C>G (p.Leu29Val)
| |
2 | g.44942189C>T | CA1642253 | SIX3 | c.85C>T (p.Leu29=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.44942190T>A | CA346798852 | SIX3 | c.86T>A (p.Leu29Gln)
| |
2 | g.44942190T>C | CA1642254 | SIX3 | c.86T>C (p.Leu29Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942190T>G | CA346798853 | SIX3 | c.86T>G (p.Leu29Arg)
| |
2 | g.44942190T= | CA2494534923 | SIX3 | c.86T= (p.Leu29=)
| |
2 | g.44942191G>A | CA426045612 | SIX3 | c.87G>A (p.Leu29=)
| |
2 | g.44942191G>C | CA426045613 | SIX3 | c.87G>C (p.Leu29=)
| |
2 | g.44942191G>T | CA426045614 | SIX3 | c.87G>T (p.Leu29=)
| |
2 | g.44942192G>A | CA346798854 | SIX3 | c.88G>A (p.Ala30Thr)
| |
2 | g.44942192G>C | CA346798855 | SIX3 | c.88G>C (p.Ala30Pro)
| gnomAD v4 |
2 | g.44942192G>T | CA346798856 | SIX3 | c.88G>T (p.Ala30Ser)
| gnomAD v4 |
2 | g.44942193C>A | CA346798857 | SIX3 | c.89C>A (p.Ala30Glu)
| |
2 | g.44942193C>G | CA346798858 | SIX3 | c.89C>G (p.Ala30Gly)
| |
2 | g.44942193C>T | CA346798859 | SIX3 | c.89C>T (p.Ala30Val)
| gnomAD v4 |
2 | g.44942194G>A | CA426045615 | SIX3 | c.90G>A (p.Ala30=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942194G>C | CA426045616 | SIX3 | c.90G>C (p.Ala30=)
| |
2 | g.44942194G= | CA2494534927 | SIX3 | c.90G= (p.Ala30=)
| |
2 | g.44942194G>T | CA344815 | SIX3 | c.90G>T (p.Ala30=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942195A= | CA2494534929 | SIX3 | c.91A= (p.Ser31=)
| |
2 | g.44942195A>C | CA47011036 | SIX3 | c.91A>C (p.Ser31Arg)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942195A>G | CA346798861 | SIX3 | c.91A>G (p.Ser31Gly)
| |
2 | g.44942195A>T | CA346798860 | SIX3 | c.91A>T (p.Ser31Cys)
| |
2 | g.44942196G>A | CA346798862 | SIX3 | c.92G>A (p.Ser31Asn)
| |
2 | g.44942196G>C | CA346798863 | SIX3 | c.92G>C (p.Ser31Thr)
| ClinVar dbSNP |
2 | g.44942196G= | CA2494534931 | SIX3 | c.92G= (p.Ser31=)
| |
2 | g.44942196G>T | CA346798864 | SIX3 | c.92G>T (p.Ser31Ile)
| gnomAD v4 |
2 | g.44942197T>A | CA346798865 | SIX3 | c.93T>A (p.Ser31Arg)
| |
2 | g.44942197T>C | CA426045617 | SIX3 | c.93T>C (p.Ser31=)
| |
2 | g.44942197T>G | CA346798866 | SIX3 | c.93T>G (p.Ser31Arg)
| |
2 | g.44942197T= | CA2494534933 | SIX3 | c.93T= (p.Ser31=)
| |
2 | g.44942197dup | CA532706760 | SIX3 | c.93dup (p.Ser32Ter)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942197_44942245delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC | CA2494534932 | SIX3 | c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC (p.Ser31=)
| |
2 | g.44942198A>C | CA346798867 | SIX3 | c.94A>C (p.Ser32Arg)
| gnomAD v4 |
2 | g.44942198A>G | CA346798868 | SIX3 | c.94A>G (p.Ser32Gly)
| |
2 | g.44942198A>T | CA346798869 | SIX3 | c.94A>T (p.Ser32Cys)
| |
2 | g.44942198_44942200dup | CA769176905 | SIX3 | c.94_96dup (p.Ser32_Gly33insSer)
| dbSNP |
2 | g.44942230_44942277dup | CA2597075087 | SIX3 | c.126_173dup (p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsnGlyAlaGlyGlyGlyGly)
| gnomAD v3 gnomAD v4 |
2 | g.44942230_44942277del | CA1642255 | SIX3 | c.126_173del (p.Gly43_Gly58del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942199G>A | CA346798870 | SIX3 | c.95G>A (p.Ser32Asn)
| COSMIC |
2 | g.44942199G>C | CA346798871 | SIX3 | c.95G>C (p.Ser32Thr)
| |
2 | g.44942199G>T | CA346798872 | SIX3 | c.95G>T (p.Ser32Ile)
| |
2 | g.44942206_44942208del | CA2658869332 | SIX3 | c.102_104del (p.Gly35del)
| gnomAD v4 |
2 | g.44942209_44942232dup | CA2658869331 | SIX3 | c.105_128dup (p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly)
| gnomAD v4 |
2 | g.44942209_44942232del | CA2658869333 | SIX3 | c.105_128del (p.Asn36_Gly43del)
| gnomAD v4 |
2 | g.44942200C>A | CA346798874 | SIX3 | c.96C>A (p.Ser32Arg)
| gnomAD v4 |
2 | g.44942200C= | CA2494534935 | SIX3 | c.96C= (p.Ser32=)
| |
2 | g.44942200C>G | CA346798873 | SIX3 | c.96C>G (p.Ser32Arg)
| |
2 | g.44942200C>T | CA1642256 | SIX3 | c.96C>T (p.Ser32=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.44942201G>A | CA1642257 | SIX3 | c.97G>A (p.Gly33Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.44942201G>C | CA346798875 | SIX3 | c.97G>C (p.Gly33Arg)
| |
2 | g.44942201G= | CA2494534939 | SIX3 | c.97G= (p.Gly33=)
| |
2 | g.44942201G>T | CA346798876 | SIX3 | c.97G>T (p.Gly33Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942202G>A | CA1642258 | SIX3 | c.98G>A (p.Gly33Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942202G>C | CA346798877 | SIX3 | c.98G>C (p.Gly33Ala)
| |
2 | g.44942202G= | CA2494534940 | SIX3 | c.98G= (p.Gly33=)
| |
2 | g.44942202G>T | CA346798878 | SIX3 | c.98G>T (p.Gly33Val)
| |
2 | g.44942203C>A | CA426045618 | SIX3 | c.99C>A (p.Gly33=)
| dbSNP gnomAD v2 |
2 | g.44942203C= | CA2494534941 | SIX3 | c.99C= (p.Gly33=)
| |
2 | g.44942203C>G | CA426045619 | SIX3 | c.99C>G (p.Gly33=)
| |
2 | g.44942203C>T | CA426045620 | SIX3 | c.99C>T (p.Gly33=)
| ClinVar |
2 | g.44942204G>A | CA346798879 | SIX3 | c.100G>A (p.Gly34Ser)
| |
2 | g.44942204G>C | CA346798880 | SIX3 | c.100G>C (p.Gly34Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.44942204G= | CA2494534942 | SIX3 | c.100G= (p.Gly34=)
| |
2 | g.44942204G>T | CA346798881 | SIX3 | c.100G>T (p.Gly34Cys)
| gnomAD v4 COSMIC |
2 | g.44942205G>A | CA346798882 | SIX3 | c.101G>A (p.Gly34Asp)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942205G>C | CA346798883 | SIX3 | c.101G>C (p.Gly34Ala)
| |
2 | g.44942205G= | CA2494534944 | SIX3 | c.101G= (p.Gly34=)
| |
2 | g.44942205G>T | CA346798884 | SIX3 | c.101G>T (p.Gly34Val)
| dbSNP |
2 | g.44942206C>A | CA426045621 | SIX3 | c.102C>A (p.Gly34=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942206C= | CA2494534946 | SIX3 | c.102C= (p.Gly34=)
| |
2 | g.44942206C>G | CA426045622 | SIX3 | c.102C>G (p.Gly34=)
| dbSNP |
2 | g.44942206C>T | CA426045623 | SIX3 | c.102C>T (p.Gly34=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942207G>A | CA47011037 | SIX3 | c.103G>A (p.Gly35Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942207G>C | CA47011038 | SIX3 | c.103G>C (p.Gly35Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942207G= | CA2494534948 | SIX3 | c.103G= (p.Gly35=)
| |
2 | g.44942207G>T | CA346798885 | SIX3 | c.103G>T (p.Gly35Trp)
| |
2 | g.44942208G>A | CA346798886 | SIX3 | c.104G>A (p.Gly35Glu)
| gnomAD v4 |
2 | g.44942208G>C | CA346798888 | SIX3 | c.104G>C (p.Gly35Ala)
| |
2 | g.44942208G>T | CA346798887 | SIX3 | c.104G>T (p.Gly35Val)
| dbSNP gnomAD v4 |
2 | g.44942209G>A | CA426045624 | SIX3 | c.105G>A (p.Gly35=)
| gnomAD v4 |
2 | g.44942209G>C | CA426045625 | SIX3 | c.105G>C (p.Gly35=)
| gnomAD v4 |
2 | g.44942209G= | CA2494534951 | SIX3 | c.105G= (p.Gly35=)
| |
2 | g.44942209G>T | CA1642259 | SIX3 | c.105G>T (p.Gly35=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942209_44942211del | CA2576956285 | SIX3 | c.105_107del (p.Asn36del)
| |
2 | g.44942210A>C | CA346798889 | SIX3 | c.106A>C (p.Asn36His)
| |
2 | g.44942210A>G | CA346798890 | SIX3 | c.106A>G (p.Asn36Asp)
| gnomAD v4 |
2 | g.44942210A>T | CA346798891 | SIX3 | c.106A>T (p.Asn36Tyr)
| |
2 | g.44942211A>C | CA346798892 | SIX3 | c.107A>C (p.Asn36Thr)
| |
2 | g.44942211A>G | CA346798893 | SIX3 | c.107A>G (p.Asn36Ser)
| |
2 | g.44942211A>T | CA346798894 | SIX3 | c.107A>T (p.Asn36Ile)
| |
2 | g.44942211_44942229delinsACGGTGCGGGAGGCGGCGG | CA2494534953 | SIX3 | c.107_125delinsACGGTGCGGGAGGCGGCGG (p.Asn36=)
| |
2 | g.44942212C>A | CA346798895 | SIX3 | c.108C>A (p.Asn36Lys)
| |
2 | g.44942212C= | CA2494534955 | SIX3 | c.108C= (p.Asn36=)
| |
2 | g.44942212C>G | CA346798896 | SIX3 | c.108C>G (p.Asn36Lys)
| dbSNP |
2 | g.44942212C>T | CA426126329 | SIX3 | c.108C>T (p.Asn36=)
| ClinVar dbSNP gnomAD v4 |
2 | g.44942215_44942232dup | CA1642260 | SIX3 | c.111_128dup (p.Gly43_Ala44insAlaGlyGlyGlyGlyGly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942215_44942232del | CA2494534957 | SIX3 | c.111_128del (p.Ala38_Gly43del)
| dbSNP gnomAD v4 |
2 | g.44942213G>A | CA346798898 | SIX3 | c.109G>A (p.Gly37Ser)
| |
2 | g.44942213G>C | CA346798897 | SIX3 | c.109G>C (p.Gly37Arg)
| dbSNP gnomAD v4 |
2 | g.44942213G= | CA2494534960 | SIX3 | c.109G= (p.Gly37=)
| |
2 | g.44942213G>T | CA129166 | SIX3 | c.109G>T (p.Gly37Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942214G>A | CA346798899 | SIX3 | c.110G>A (p.Gly37Asp)
| |
2 | g.44942214G>C | CA346798900 | SIX3 | c.110G>C (p.Gly37Ala)
| |
2 | g.44942214G>T | CA346798901 | SIX3 | c.110G>T (p.Gly37Val)
| dbSNP |
2 | g.44942215T>A | CA426126330 | SIX3 | c.111T>A (p.Gly37=)
| |
2 | g.44942215T>C | CA1642262 | SIX3 | c.111T>C (p.Gly37=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942215T>G | CA426126331 | SIX3 | c.111T>G (p.Gly37=)
| |
2 | g.44942215T= | CA2494534962 | SIX3 | c.111T= (p.Gly37=)
| |
2 | g.44942215_44942233delinsTGCGGGAGGCGGCGGCGGC | CA2494534963 | SIX3 | c.111_129delinsTGCGGGAGGCGGCGGCGGC (p.Gly37=)
| |
2 | g.44942216G>A | CA346798902 | SIX3 | c.112G>A (p.Ala38Thr)
| ClinVar dbSNP |
2 | g.44942216G>C | CA346798903 | SIX3 | c.112G>C (p.Ala38Pro)
| |
2 | g.44942216G>T | CA346798904 | SIX3 | c.112G>T (p.Ala38Ser)
| |
2 | g.44942228_44942245dup | CA2658869389 | SIX3 | c.124_141dup (p.Gly47_Ser48insGlyGlyAlaGlyGlyGly)
| dbSNP gnomAD v4 |
2 | g.44942228_44942245del | CA1642261 | SIX3 | c.124_141del (p.Gly42_Gly47del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942217C>A | CA346798905 | SIX3 | c.113C>A (p.Ala38Glu)
| gnomAD v4 |
2 | g.44942217C= | CA2494534966 | SIX3 | c.113C= (p.Ala38=)
| |
2 | g.44942217C>G | CA346798906 | SIX3 | c.113C>G (p.Ala38Gly)
| |
2 | g.44942217C>T | CA1642263 | SIX3 | c.113C>T (p.Ala38Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.44942218G>A | CA426126332 | SIX3 | c.114G>A (p.Ala38=)
| dbSNP gnomAD v4 COSMIC |
2 | g.44942218G>C | CA426126333 | SIX3 | c.114G>C (p.Ala38=)
| gnomAD v4 |
2 | g.44942218G= | CA2494534968 | SIX3 | c.114G= (p.Ala38=)
| |
2 | g.44942218G>T | CA1642264 | SIX3 | c.114G>T (p.Ala38=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942218_44942219insAGCGGC | CA645537516 | SIX3 | c.114_115insAGCGGC (p.Ala38_Gly39insSerGly)
| COSMIC |
2 | g.44942219G>A | CA346798908 | SIX3 | c.115G>A (p.Gly39Arg)
| dbSNP gnomAD v4 |
2 | g.44942219G>C | CA346798909 | SIX3 | c.115G>C (p.Gly39Arg)
| |
2 | g.44942219G= | CA2494534969 | SIX3 | c.115G= (p.Gly39=)
| |
2 | g.44942219G>T | CA346798907 | SIX3 | c.115G>T (p.Gly39Ter)
| gnomAD v4 |
2 | g.44942220G>A | CA346798910 | SIX3 | c.116G>A (p.Gly39Glu)
| gnomAD v4 |
2 | g.44942220G>C | CA346798911 | SIX3 | c.116G>C (p.Gly39Ala)
| gnomAD v4 |
2 | g.44942220G>T | CA346798912 | SIX3 | c.116G>T (p.Gly39Val)
| gnomAD v4 |
2 | g.44942221A>C | CA426126334 | SIX3 | c.117A>C (p.Gly39=)
| |
2 | g.44942221A>G | CA426126335 | SIX3 | c.117A>G (p.Gly39=)
| gnomAD v4 |
2 | g.44942221A>T | CA426126336 | SIX3 | c.117A>T (p.Gly39=)
| gnomAD v4 |
2 | g.44942221_44942224delinsAGGC | CA2494534971 | SIX3 | c.117_120delinsAGGC (p.Gly39=)
| |
2 | g.44942222G>A | CA346798913 | SIX3 | c.118G>A (p.Gly40Ser)
| |
2 | g.44942222G>C | CA346798914 | SIX3 | c.118G>C (p.Gly40Arg)
| gnomAD v4 |
2 | g.44942222G>T | CA346798915 | SIX3 | c.118G>T (p.Gly40Cys)
| gnomAD v4 |
2 | g.44942232_44942234dup | CA1642265 | SIX3 | c.128_130dup (p.Gly43_Ala44insGly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942232_44942234del | CA532706661 | SIX3 | c.128_130del (p.Gly43del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942230_44942256del | CA2749734938 | SIX3 | c.126_152del (p.Gly43_Gly51del)
| |
2 | g.44942235_44942306del | CA2658869408 | SIX3 | c.131_202del (p.Ala44_Gly67del)
| gnomAD v4 |
2 | g.44942223G>A | CA346798916 | SIX3 | c.119G>A (p.Gly40Asp)
| |
2 | g.44942223G>C | CA346798917 | SIX3 | c.119G>C (p.Gly40Ala)
| |
2 | g.44942223G>T | CA346798918 | SIX3 | c.119G>T (p.Gly40Val)
| |
2 | g.44942224C>A | CA426126337 | SIX3 | c.120C>A (p.Gly40=)
| ClinVar dbSNP gnomAD v4 |
2 | g.44942224C>G | CA426126339 | SIX3 | c.120C>G (p.Gly40=)
| |
2 | g.44942224C>T | CA426126338 | SIX3 | c.120C>T (p.Gly40=)
| gnomAD v4 |
2 | g.44942225G>A | CA346798919 | SIX3 | c.121G>A (p.Gly41Ser)
| gnomAD v4 |
2 | g.44942225G>C | CA346798920 | SIX3 | c.121G>C (p.Gly41Arg)
| |
2 | g.44942225G= | CA2494534973 | SIX3 | c.121G= (p.Gly41=)
| |
2 | g.44942225G>T | CA346798921 | SIX3 | c.121G>T (p.Gly41Cys)
| gnomAD v4 |
2 | g.44942225_44942246delinsGGCGGCGGCGCGGGAGGCGGCA | CA2494534974 | SIX3 | c.121_142delinsGGCGGCGGCGCGGGAGGCGGCA (p.Gly41=)
| |
2 | g.44942226G>A | CA346798924 | SIX3 | c.122G>A (p.Gly41Asp)
| |
2 | g.44942226G>C | CA346798923 | SIX3 | c.122G>C (p.Gly41Ala)
| |
2 | g.44942226G>T | CA346798922 | SIX3 | c.122G>T (p.Gly41Val)
| gnomAD v4 |
2 | g.44942227_44942228insAGC | CA769176972 | SIX3 | c.123_124insAGC (p.Gly41_Gly42insSer)
| dbSNP |
2 | g.44942235_44942255dup | CA916524990 | SIX3 | c.131_151dup (p.Gly50_Gly51insAlaGlyGlyGlySerGlyGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942235_44942255del | CA2494534976 | SIX3 | c.131_151del (p.Ala44_Gly50del)
| dbSNP |
2 | g.44942227C>A | CA426126340 | SIX3 | c.123C>A (p.Gly41=)
| |
2 | g.44942227C>G | CA426126341 | SIX3 | c.123C>G (p.Gly41=)
| |
2 | g.44942227C>T | CA426126342 | SIX3 | c.123C>T (p.Gly41=)
| gnomAD v4 |
2 | g.44942228G>A | CA346798925 | SIX3 | c.124G>A (p.Gly42Ser)
| gnomAD v4 |
2 | g.44942228G>C | CA346798926 | SIX3 | c.124G>C (p.Gly42Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942228G= | CA2494534978 | SIX3 | c.124G= (p.Gly42=)
| |
2 | g.44942228G>T | CA346798927 | SIX3 | c.124G>T (p.Gly42Cys)
| gnomAD v4 |
2 | g.44942234_44942245dup | CA2576956287 | SIX3 | c.130_141dup (p.Gly47_Ser48insAlaGlyGlyGly)
| ClinVar |
2 | g.44942229G>A | CA346798928 | SIX3 | c.125G>A (p.Gly42Asp)
| gnomAD v4 |
2 | g.44942229G>C | CA346798929 | SIX3 | c.125G>C (p.Gly42Ala)
| |
2 | g.44942229G>T | CA346798930 | SIX3 | c.125G>T (p.Gly42Val)
| |
2 | g.44942230_44942231del | CA2658869441 | SIX3 | c.126_127del (p.Gly43ArgfsTer?)
| gnomAD v4 |
2 | g.44942235_44942252del | CA1030071070 | SIX3 | c.131_148del (p.Ala44_Gly49del)
| gnomAD v3 gnomAD v4 |
2 | g.44942230C>A | CA426126343 | SIX3 | c.126C>A (p.Gly42=)
| |
2 | g.44942230C>G | CA426126344 | SIX3 | c.126C>G (p.Gly42=)
| |
2 | g.44942230C>T | CA426126345 | SIX3 | c.126C>T (p.Gly42=)
| gnomAD v4 |
2 | g.44942231G>A | CA346798931 | SIX3 | c.127G>A (p.Gly43Ser)
| gnomAD v4 |
2 | g.44942231G>C | CA346798932 | SIX3 | c.127G>C (p.Gly43Arg)
| |
2 | g.44942231G= | CA2494534980 | SIX3 | c.127G= (p.Gly43=)
| |
2 | g.44942231G>T | CA346798933 | SIX3 | c.127G>T (p.Gly43Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942232del | CA2658869460 | SIX3 | c.128del (p.Gly43AlafsTer?)
| gnomAD v4 |
2 | g.44942235_44942243del | CA2658869454 | SIX3 | c.131_139del (p.Ala44_Gly46del)
| gnomAD v4 |
2 | g.44942235_44942285del | CA2544789187 | SIX3 | c.131_181del (p.Ala44_Gly60del)
| |
2 | g.44942232G>A | CA346798934 | SIX3 | c.128G>A (p.Gly43Asp)
| gnomAD v4 |
2 | g.44942232G>C | CA346798935 | SIX3 | c.128G>C (p.Gly43Ala)
| |
2 | g.44942232G>T | CA346798936 | SIX3 | c.128G>T (p.Gly43Val)
| gnomAD v4 |
2 | g.44942235_44942249del | CA2749734939 | SIX3 | c.131_145del (p.Ala44_Ser48del)
| |