| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.153819589_153819620del | CA2739292041 | GATAD2B | c.30_42+19del c.453_465+19del | |
| 1 | g.153819598_153819601del | CA1120864 | GATAD2B | c.42+12_42+15del (n.42+12_42+15del) c.465+12_465+15del (n.465+12_465+15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.153819598C>T | CA2648092297 | GATAD2B | c.42+8G>A (n.42+8G>A) c.465+8G>A (n.465+8G>A) | gnomAD v4 |
| 1 | g.153819603del | CA2648092298 | GATAD2B | c.42+7del (n.42+7del) c.465+7del (n.465+7del) | gnomAD v4 |
| 1 | g.153819604A>C | CA342534849 | GATAD2B | c.42+2T>G (n.42+2T>G) c.465+2T>G (n.465+2T>G) | |
| 1 | g.153819604A>G | CA342534850 | GATAD2B | c.42+2T>C (n.42+2T>C) c.465+2T>C (n.465+2T>C) | |
| 1 | g.153819604A>T | CA342534852 | GATAD2B | c.42+2T>A (n.42+2T>A) c.465+2T>A (n.465+2T>A) | gnomAD v4 COSMIC |
| 1 | g.153819605C>A | CA342534853 | GATAD2B | c.42+1G>T (n.42+1G>T) c.465+1G>T (n.465+1G>T) | |
| 1 | g.153819605C>G | CA342534854 | GATAD2B | c.42+1G>C (n.42+1G>C) c.465+1G>C (n.465+1G>C) | |
| 1 | g.153819605C>T | CA342534855 | GATAD2B | c.42+1G>A (n.42+1G>A) c.465+1G>A (n.465+1G>A) | |
| 1 | g.153819606C>A | CA342534856 | GATAD2B | c.42G>T (p.Lys14Asn) c.465G>T (p.Lys155Asn) | gnomAD v4 |
| 1 | g.153819606C>G | CA342534857 | GATAD2B | c.42G>C (p.Lys14Asn) c.465G>C (p.Lys155Asn) | |
| 1 | g.153819606C>T | CA420836140 | GATAD2B | c.42G>A (p.Lys14=) c.465G>A (p.Lys155=) | |
| 1 | g.153819607T>A | CA342534859 | GATAD2B | c.41A>T (p.Lys14Met) c.464A>T (p.Lys155Met) | |
| 1 | g.153819607T>C | CA342534860 | GATAD2B | c.41A>G (p.Lys14Arg) c.464A>G (p.Lys155Arg) | gnomAD v4 |
| 1 | g.153819607T>G | CA342534861 | GATAD2B | c.41A>C (p.Lys14Thr) c.464A>C (p.Lys155Thr) | |
| 1 | g.153819608T>A | CA342534864 | GATAD2B | c.40A>T (p.Lys14Ter) c.463A>T (p.Lys155Ter) | |
| 1 | g.153819608T>C | CA342534862 | GATAD2B | c.40A>G (p.Lys14Glu) c.463A>G (p.Lys155Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.153819608T>G | CA342534863 | GATAD2B | c.40A>C (p.Lys14Gln) c.463A>C (p.Lys155Gln) | |
| 1 | g.153819608T= | CA2480603201 | GATAD2B | c.40A= (p.Lys14=) c.463A= (p.Lys155=) | |
| 1 | g.153819609A>C | CA342534865 | GATAD2B | c.39T>G (p.Phe13Leu) c.462T>G (p.Phe154Leu) | |
| 1 | g.153819609A>G | CA420836144 | GATAD2B | c.39T>C (p.Phe13=) c.462T>C (p.Phe154=) | gnomAD v4 |
| 1 | g.153819609A>T | CA342534866 | GATAD2B | c.39T>A (p.Phe13Leu) c.462T>A (p.Phe154Leu) | |
| 1 | g.153819610A>C | CA342534867 | GATAD2B | c.38T>G (p.Phe13Cys) c.461T>G (p.Phe154Cys) | |
| 1 | g.153819610A>G | CA342534868 | GATAD2B | c.38T>C (p.Phe13Ser) c.461T>C (p.Phe154Ser) | |
| 1 | g.153819610A>T | CA342534869 | GATAD2B | c.38T>A (p.Phe13Tyr) c.461T>A (p.Phe154Tyr) | |
| 1 | g.153819611A>C | CA342534871 | GATAD2B | c.37T>G (p.Phe13Val) c.460T>G (p.Phe154Val) | |
| 1 | g.153819611A>G | CA342534872 | GATAD2B | c.37T>C (p.Phe13Leu) c.460T>C (p.Phe154Leu) | gnomAD v4 |
| 1 | g.153819611A>T | CA342534873 | GATAD2B | c.37T>A (p.Phe13Ile) c.460T>A (p.Phe154Ile) | |
| 1 | g.153819612C>A | CA342534874 | GATAD2B | c.36G>T (p.Met12Ile) c.459G>T (p.Met153Ile) | gnomAD v4 |
| 1 | g.153819612C= | CA2480603202 | GATAD2B | c.36G= (p.Met12=) c.459G= (p.Met153=) | |
| 1 | g.153819612C>G | CA342534875 | GATAD2B | c.36G>C (p.Met12Ile) c.459G>C (p.Met153Ile) | dbSNP |
| 1 | g.153819612C>T | CA1120865 | GATAD2B | c.36G>A (p.Met12Ile) c.459G>A (p.Met153Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.153819613A= | CA2480603203 | GATAD2B | c.35T= (p.Met12=) c.458T= (p.Met153=) | |
| 1 | g.153819613A>C | CA342534877 | GATAD2B | c.35T>G (p.Met12Arg) c.458T>G (p.Met153Arg) | |
| 1 | g.153819613A>G | CA30710932 | GATAD2B | c.35T>C (p.Met12Thr) c.458T>C (p.Met153Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.153819613A>T | CA342534876 | GATAD2B | c.35T>A (p.Met12Lys) c.458T>A (p.Met153Lys) | |
| 1 | g.153819614T>A | CA342534878 | GATAD2B | c.34A>T (p.Met12Leu) c.457A>T (p.Met153Leu) | |
| 1 | g.153819614T>C | CA1120866 | GATAD2B | c.34A>G (p.Met12Val) c.457A>G (p.Met153Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.153819614T>G | CA342534879 | GATAD2B | c.34A>C (p.Met12Leu) c.457A>C (p.Met153Leu) | |
| 1 | g.153819614T= | CA2480603204 | GATAD2B | c.34A= (p.Met12=) c.457A= (p.Met153=) | |
| 1 | g.153819615C>A | CA342534880 | GATAD2B | c.33G>T (p.Glu11Asp) c.456G>T (p.Glu152Asp) | |
| 1 | g.153819615C>G | CA342534881 | GATAD2B | c.33G>C (p.Glu11Asp) c.456G>C (p.Glu152Asp) | |
| 1 | g.153819615C>T | CA420836150 | GATAD2B | c.33G>A (p.Glu11=) c.456G>A (p.Glu152=) | gnomAD v4 |
| 1 | g.153819616T>A | CA342534882 | GATAD2B | c.32A>T (p.Glu11Val) c.455A>T (p.Glu152Val) | |
| 1 | g.153819616T>C | CA342534883 | GATAD2B | c.32A>G (p.Glu11Gly) c.455A>G (p.Glu152Gly) | gnomAD v4 |
| 1 | g.153819616T>G | CA342534884 | GATAD2B | c.32A>C (p.Glu11Ala) c.455A>C (p.Glu152Ala) | |
| 1 | g.153819617C>A | CA342534885 | GATAD2B | c.31G>T (p.Glu11Ter) c.454G>T (p.Glu152Ter) | |
| 1 | g.153819617C= | CA1141315029 | GATAD2B | c.31G= (p.Glu11=) c.454G= (p.Glu152=) | |
| 1 | g.153819617C>G | CA342534887 | GATAD2B | c.31G>C (p.Glu11Gln) c.454G>C (p.Glu152Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.153819617C>T | CA30710944 | GATAD2B | c.31G>A (p.Glu11Lys) c.454G>A (p.Glu152Lys) | dbSNP |
| 1 | g.153819618T>A | CA342534888 | GATAD2B | c.30A>T (p.Leu10Phe) c.453A>T (p.Leu151Phe) | |
| 1 | g.153819618T>C | CA420836154 | GATAD2B | c.30A>G (p.Leu10=) c.453A>G (p.Leu151=) | |
| 1 | g.153819618T>G | CA342534889 | GATAD2B | c.30A>C (p.Leu10Phe) c.453A>C (p.Leu151Phe) | gnomAD v4 |
| 1 | g.153819618dup | CA2580061081 | GATAD2B | c.30dup (p.Glu11ArgfsTer4) c.453dup (p.Glu152ArgfsTer4) | ClinVar |
| 1 | g.153819619A>C | CA342534892 | GATAD2B | c.29T>G (p.Leu10Ter) c.452T>G (p.Leu151Ter) | |
| 1 | g.153819619A>G | CA342534891 | GATAD2B | c.29T>C (p.Leu10Ser) c.452T>C (p.Leu151Ser) | |
| 1 | g.153819619A>T | CA342534890 | GATAD2B | c.29T>A (p.Leu10Ter) c.452T>A (p.Leu151Ter) | |
| 1 | g.153819620del | CA2648092299 | GATAD2B | c.29del (p.Leu10Ter) c.452del (p.Leu151Ter) | gnomAD v4 |
| 1 | g.153819620A>C | CA342534893 | GATAD2B | c.28T>G (p.Leu10Val) c.451T>G (p.Leu151Val) | |
| 1 | g.153819620A>G | CA420836156 | GATAD2B | c.28T>C (p.Leu10=) c.451T>C (p.Leu151=) | |
| 1 | g.153819620A>T | CA342534895 | GATAD2B | c.28T>A (p.Leu10Ile) c.451T>A (p.Leu151Ile) | gnomAD v4 |
| 1 | g.153819621G>A | CA420836159 | GATAD2B | c.27C>T (p.Asn9=) c.450C>T (p.Asn150=) | ClinVar |
| 1 | g.153819621G>C | CA342534896 | GATAD2B | c.27C>G (p.Asn9Lys) c.450C>G (p.Asn150Lys) | |
| 1 | g.153819621G>T | CA342534898 | GATAD2B | c.27C>A (p.Asn9Lys) c.450C>A (p.Asn150Lys) | |
| 1 | g.153819622T>A | CA342534899 | GATAD2B | c.26A>T (p.Asn9Ile) c.449A>T (p.Asn150Ile) | |
| 1 | g.153819622T>C | CA342534900 | GATAD2B | c.26A>G (p.Asn9Ser) c.449A>G (p.Asn150Ser) | |
| 1 | g.153819622T>G | CA342534901 | GATAD2B | c.26A>C (p.Asn9Thr) c.449A>C (p.Asn150Thr) | |
| 1 | g.153819623T>A | CA342534902 | GATAD2B | c.25A>T (p.Asn9Tyr) c.448A>T (p.Asn150Tyr) | |
| 1 | g.153819623T>C | CA342534903 | GATAD2B | c.25A>G (p.Asn9Asp) c.448A>G (p.Asn150Asp) | |
| 1 | g.153819623T>G | CA342534906 | GATAD2B | c.25A>C (p.Asn9His) c.448A>C (p.Asn150His) | |
| 1 | g.153819624G>A | CA420836161 | GATAD2B | c.24C>T (p.Ala8=) c.447C>T (p.Ala149=) | |
| 1 | g.153819624G>C | CA420836162 | GATAD2B | c.24C>G (p.Ala8=) c.447C>G (p.Ala149=) | |
| 1 | g.153819624G>T | CA420836163 | GATAD2B | c.24C>A (p.Ala8=) c.447C>A (p.Ala149=) | |
| 1 | g.153819625G>A | CA342534908 | GATAD2B | c.23C>T (p.Ala8Val) c.446C>T (p.Ala149Val) | gnomAD v4 |
| 1 | g.153819625G>C | CA342534910 | GATAD2B | c.23C>G (p.Ala8Gly) c.446C>G (p.Ala149Gly) | |
| 1 | g.153819625G>T | CA342534913 | GATAD2B | c.23C>A (p.Ala8Asp) c.446C>A (p.Ala149Asp) | |
| 1 | g.153819626C>A | CA342534917 | GATAD2B | c.22G>T (p.Ala8Ser) c.445G>T (p.Ala149Ser) | |
| 1 | g.153819626C>G | CA342534920 | GATAD2B | c.22G>C (p.Ala8Pro) c.445G>C (p.Ala149Pro) | |
| 1 | g.153819626C>T | CA342534916 | GATAD2B | c.22G>A (p.Ala8Thr) c.445G>A (p.Ala149Thr) | gnomAD v4 |
| 1 | g.153819627T>A | CA420836164 | GATAD2B | c.21A>T (p.Ala7=) c.444A>T (p.Ala148=) | |
| 1 | g.153819627T>C | CA420836165 | GATAD2B | c.21A>G (p.Ala7=) c.444A>G (p.Ala148=) | |
| 1 | g.153819627T>G | CA420836166 | GATAD2B | c.21A>C (p.Ala7=) c.444A>C (p.Ala148=) | |
| 1 | g.153819628G>A | CA342534926 | GATAD2B | c.20C>T (p.Ala7Val) c.443C>T (p.Ala148Val) | |
| 1 | g.153819628G>C | CA342534922 | GATAD2B | c.20C>G (p.Ala7Gly) c.443C>G (p.Ala148Gly) | |
| 1 | g.153819628G>T | CA342534924 | GATAD2B | c.20C>A (p.Ala7Glu) c.443C>A (p.Ala148Glu) | |
| 1 | g.153819629C>A | CA342534928 | GATAD2B | c.19G>T (p.Ala7Ser) c.442G>T (p.Ala148Ser) | |
| 1 | g.153819629C= | CA1143994837 | GATAD2B | c.19G= (p.Ala7=) c.442G= (p.Ala148=) | |
| 1 | g.153819629C>G | CA342534930 | GATAD2B | c.19G>C (p.Ala7Pro) c.442G>C (p.Ala148Pro) | |
| 1 | g.153819629C>T | CA1120867 | GATAD2B | c.19G>A (p.Ala7Thr) c.442G>A (p.Ala148Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.153819630T>A | CA342534935 | GATAD2B | c.18A>T (p.Lys6Asn) c.441A>T (p.Lys147Asn) | |
| 1 | g.153819630T>C | CA420836170 | GATAD2B | c.18A>G (p.Lys6=) c.441A>G (p.Lys147=) | |
| 1 | g.153819630T>G | CA342534941 | GATAD2B | c.18A>C (p.Lys6Asn) c.441A>C (p.Lys147Asn) | |
| 1 | g.153819631T>A | CA342534945 | GATAD2B | c.17A>T (p.Lys6Ile) c.440A>T (p.Lys147Ile) | |
| 1 | g.153819631T>C | CA342534956 | GATAD2B | c.17A>G (p.Lys6Arg) c.440A>G (p.Lys147Arg) | dbSNP gnomAD v4 |
| 1 | g.153819631T>G | CA342534953 | GATAD2B | c.17A>C (p.Lys6Thr) c.440A>C (p.Lys147Thr) | |
| 1 | g.153819631T= | CA2480603205 | GATAD2B | c.17A= (p.Lys6=) c.440A= (p.Lys147=) | |
| 1 | g.153819632T>A | CA342534968 | GATAD2B | c.16A>T (p.Lys6Ter) c.439A>T (p.Lys147Ter) | |
| 1 | g.153819632T>C | CA342534975 | GATAD2B | c.16A>G (p.Lys6Glu) c.439A>G (p.Lys147Glu) | gnomAD v4 |
| 1 | g.153819632T>G | CA342534980 | GATAD2B | c.16A>C (p.Lys6Gln) c.439A>C (p.Lys147Gln) | gnomAD v4 |
| 1 | g.153819633G>A | CA1120868 | GATAD2B | c.15C>T (p.Leu5=) c.438C>T (p.Leu146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.153819633G>C | CA420836174 | GATAD2B | c.15C>G (p.Leu5=) c.438C>G (p.Leu146=) | COSMIC |
| 1 | g.153819633G= | CA2480603206 | GATAD2B | c.15C= (p.Leu5=) c.438C= (p.Leu146=) | |
| 1 | g.153819633G>T | CA420836172 | GATAD2B | c.15C>A (p.Leu5=) c.438C>A (p.Leu146=) | |
| 1 | g.153819634A>C | CA342534990 | GATAD2B | c.14T>G (p.Leu5Arg) c.437T>G (p.Leu146Arg) | |
| 1 | g.153819634A>G | CA342534992 | GATAD2B | c.14T>C (p.Leu5Pro) c.437T>C (p.Leu146Pro) | |
| 1 | g.153819634A>T | CA342534991 | GATAD2B | c.14T>A (p.Leu5His) c.437T>A (p.Leu146His) | |
| 1 | g.153819635G>A | CA342534993 | GATAD2B | c.13C>T (p.Leu5Phe) c.436C>T (p.Leu146Phe) | |
| 1 | g.153819635G>C | CA342534995 | GATAD2B | c.13C>G (p.Leu5Val) c.436C>G (p.Leu146Val) | |
| 1 | g.153819635G>T | CA342534999 | GATAD2B | c.13C>A (p.Leu5Ile) c.436C>A (p.Leu146Ile) | |
| 1 | g.153819635_153819639delinsGTCTT | CA2480603207 | GATAD2B | c.9_13delinsAAGAC (p.Glu3=) c.432_436delinsAAGAC (p.Glu144=) | |
| 1 | g.153819636T>A | CA342535003 | GATAD2B | c.12A>T (p.Arg4Ser) c.435A>T (p.Arg145Ser) | |
| 1 | g.153819636T>C | CA420836179 | GATAD2B | c.12A>G (p.Arg4=) c.435A>G (p.Arg145=) | |
| 1 | g.153819636T>G | CA342535004 | GATAD2B | c.12A>C (p.Arg4Ser) c.435A>C (p.Arg145Ser) | ClinVar |
| 1 | g.153819640_153819643del | CA16042318 | GATAD2B | c.9_12del (p.Glu3AspfsTer7) c.432_435del (p.Glu144AspfsTer7) c.432_435del (p.Glu144AspfsTer?) | ClinVar dbSNP |
| 1 | g.153819637C>A | CA342535014 | GATAD2B | c.11G>T (p.Arg4Ile) c.434G>T (p.Arg145Ile) | |
| 1 | g.153819637C>G | CA342535017 | GATAD2B | c.11G>C (p.Arg4Thr) c.434G>C (p.Arg145Thr) | |
| 1 | g.153819637C>T | CA342535021 | GATAD2B | c.11G>A (p.Arg4Lys) c.434G>A (p.Arg145Lys) | |
| 1 | g.153819638T>A | CA342535025 | GATAD2B | c.10A>T (p.Arg4Ter) c.433A>T (p.Arg145Ter) | |
| 1 | g.153819638T>C | CA342535028 | GATAD2B | c.10A>G (p.Arg4Gly) c.433A>G (p.Arg145Gly) | gnomAD v4 |
| 1 | g.153819638T>G | CA420836181 | GATAD2B | c.10A>C (p.Arg4=) c.433A>C (p.Arg145=) | |
| 1 | g.153819639T>A | CA342535035 | GATAD2B | c.9A>T (p.Glu3Asp) c.432A>T (p.Glu144Asp) | |
| 1 | g.153819639T>C | CA420836183 | GATAD2B | c.9A>G (p.Glu3=) c.432A>G (p.Glu144=) | gnomAD v4 |
| 1 | g.153819639T>G | CA342535033 | GATAD2B | c.9A>C (p.Glu3Asp) c.432A>C (p.Glu144Asp) | |
| 1 | g.153819640T>A | CA342535041 | GATAD2B | c.8A>T (p.Glu3Val) c.431A>T (p.Glu144Val) | |
| 1 | g.153819640T>C | CA342535044 | GATAD2B | c.8A>G (p.Glu3Gly) c.431A>G (p.Glu144Gly) | |
| 1 | g.153819640T>G | CA342535047 | GATAD2B | c.8A>C (p.Glu3Ala) c.431A>C (p.Glu144Ala) | |
| 1 | g.153819641C>A | CA342535054 | GATAD2B | c.7G>T (p.Glu3Ter) c.430G>T (p.Glu144Ter) | COSMIC |
| 1 | g.153819641C>G | CA342535059 | GATAD2B | c.7G>C (p.Glu3Gln) c.430G>C (p.Glu144Gln) | COSMIC |
| 1 | g.153819641C>T | CA342535063 | GATAD2B | c.7G>A (p.Glu3Lys) c.430G>A (p.Glu144Lys) | |
| 1 | g.153819642T>A | CA342535072 | GATAD2B | c.6A>T (p.Glu2Asp) c.429A>T (p.Glu143Asp) | |
| 1 | g.153819642T>C | CA420836186 | GATAD2B | c.6A>G (p.Glu2=) c.429A>G (p.Glu143=) | |
| 1 | g.153819642T>G | CA342535069 | GATAD2B | c.6A>C (p.Glu2Asp) c.429A>C (p.Glu143Asp) | |
| 1 | g.153819643T>A | CA342535076 | GATAD2B | c.5A>T (p.Glu2Val) c.428A>T (p.Glu143Val) | |
| 1 | g.153819643T>C | CA342535091 | GATAD2B | c.5A>G (p.Glu2Gly) c.428A>G (p.Glu143Gly) | |
| 1 | g.153819643T>G | CA342535094 | GATAD2B | c.5A>C (p.Glu2Ala) c.428A>C (p.Glu143Ala) | |
| 1 | g.153819644C>A | CA342535112 | GATAD2B | c.4G>T (p.Glu2Ter) c.427G>T (p.Glu143Ter) | |
| 1 | g.153819644C>G | CA342535124 | GATAD2B | c.4G>C (p.Glu2Gln) c.427G>C (p.Glu143Gln) | |
| 1 | g.153819644C>T | CA342535127 | GATAD2B | c.4G>A (p.Glu2Lys) c.427G>A (p.Glu143Lys) | |
| 1 | g.153819645C>A | CA342535140 | GATAD2B | c.3G>T (p.Met1Ile) c.426G>T (p.Met142Ile) | |
| 1 | g.153819645C>G | CA342535133 | GATAD2B | c.3G>C (p.Met1Ile) c.426G>C (p.Met142Ile) | |
| 1 | g.153819645C>T | CA342535137 | GATAD2B | c.3G>A (p.Met1Ile) c.426G>A (p.Met142Ile) | ClinVar |
| 1 | g.153819646A>C | CA342535145 | GATAD2B | c.2T>G (p.Met1Arg) c.425T>G (p.Met142Arg) | ClinVar dbSNP |
| 1 | g.153819646A>G | CA342535153 | GATAD2B | c.2T>C (p.Met1Thr) c.425T>C (p.Met142Thr) | |
| 1 | g.153819646A>T | CA342535157 | GATAD2B | c.2T>A (p.Met1Lys) c.425T>A (p.Met142Lys) | |
| 1 | g.153819647T>A | CA342535163 | GATAD2B | c.1A>T (p.Met1Leu) c.424A>T (p.Met142Leu) | COSMIC |
| 1 | g.153819647T>C | CA342535165 | GATAD2B | c.1A>G (p.Met1Val) c.424A>G (p.Met142Val) | |
| 1 | g.153819647T>G | CA342535169 | GATAD2B | c.1A>C (p.Met1Leu) c.424A>C (p.Met142Leu) | |
| 1 | g.153819648T>A | CA342535170 | GATAD2B | c.-1A>T (n.-1A>T) c.423A>T (p.Arg141Ser) | |
| 1 | g.153819648T>C | CA420836193 | GATAD2B | c.-1A>G (n.-1A>G) c.423A>G (p.Arg141=) | |
| 1 | g.153819648T>G | CA342535171 | GATAD2B | c.-1A>C (n.-1A>C) c.423A>C (p.Arg141Ser) | |
| 1 | g.153819649C>A | CA342535173 | GATAD2B | c.-2G>T (n.-2G>T) c.422G>T (p.Arg141Ile) | |
| 1 | g.153819649C>G | CA342535180 | GATAD2B | c.-2G>C (n.-2G>C) c.422G>C (p.Arg141Thr) | |
| 1 | g.153819649C>T | CA342535182 | GATAD2B | c.-2G>A (n.-2G>A) c.422G>A (p.Arg141Lys) | |
| 1 | g.153819650T>A | CA342535187 | GATAD2B | c.-3A>T (n.-3A>T) c.421A>T (p.Arg141Ter) | |
| 1 | g.153819650T>C | CA342535192 | GATAD2B | c.-3A>G (n.-3A>G) c.421A>G (p.Arg141Gly) | dbSNP |
| 1 | g.153819650T>G | CA420836197 | GATAD2B | c.-3A>C (n.-3A>C) c.421A>C (p.Arg141=) | |
| 1 | g.153819650T= | CA2480603208 | GATAD2B | c.-3A= (n.-3A=) c.421A= (p.Arg141=) | |
| 1 | g.153819651G>A | CA420836198 | GATAD2B | c.-4C>T (n.-4C>T) c.420C>T (p.Ser140=) | |
| 1 | g.153819651G>C | CA420836199 | GATAD2B | c.-4C>G (n.-4C>G) c.420C>G (p.Ser140=) | gnomAD v4 |
| 1 | g.153819651G>T | CA420836200 | GATAD2B | c.-4C>A (n.-4C>A) c.420C>A (p.Ser140=) | |
| 1 | g.153819652del | CA2740090371 | GATAD2B | c.-4del (n.-4del) c.420del (p.Arg141GlufsTer11) c.420del (p.Arg141GlufsTer?) | ClinVar |
| 1 | g.153819652G>A | CA342535206 | GATAD2B | c.-5C>T (n.-5C>T) c.419C>T (p.Ser140Phe) | |
| 1 | g.153819652G>C | CA342535198 | GATAD2B | c.-5C>G (n.-5C>G) c.419C>G (p.Ser140Cys) | |
| 1 | g.153819652G>T | CA342535203 | GATAD2B | c.-5C>A (n.-5C>A) c.419C>A (p.Ser140Tyr) | |
| 1 | g.153819653A>C | CA342535208 | GATAD2B | c.-6T>G (n.-6T>G) c.418T>G (p.Ser140Ala) | |
| 1 | g.153819653A>G | CA342535216 | GATAD2B | c.-6T>C (n.-6T>C) c.418T>C (p.Ser140Pro) | |
| 1 | g.153819653A>T | CA342535212 | GATAD2B | c.-6T>A (n.-6T>A) c.418T>A (p.Ser140Thr) | |
| 1 | g.153819654A>C | CA342535217 | GATAD2B | c.-7T>G (n.-7T>G) c.417T>G (p.Ser139Arg) | |
| 1 | g.153819654A>G | CA420836203 | GATAD2B | c.-7T>C (n.-7T>C) c.417T>C (p.Ser139=) | gnomAD v4 |
| 1 | g.153819654A>T | CA342535218 | GATAD2B | c.-7T>A (n.-7T>A) c.417T>A (p.Ser139Arg) | |
| 1 | g.153819655C>A | CA342535220 | GATAD2B | c.-8G>T (n.-8G>T) c.416G>T (p.Ser139Ile) | |
| 1 | g.153819655C>G | CA342535224 | GATAD2B | c.-8G>C (n.-8G>C) c.416G>C (p.Ser139Thr) | |
| 1 | g.153819655C>T | CA342535226 | GATAD2B | c.-8G>A (n.-8G>A) c.416G>A (p.Ser139Asn) | |
| 1 | g.153819656T>A | CA342535228 | GATAD2B | c.-9A>T (n.-9A>T) c.415A>T (p.Ser139Cys) | |
| 1 | g.153819656T>C | CA1120869 | GATAD2B | c.-9A>G (n.-9A>G) c.415A>G (p.Ser139Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.153819656T>G | CA342535243 | GATAD2B | c.-9A>C (n.-9A>C) c.415A>C (p.Ser139Arg) | |
| 1 | g.153819656T= | CA1142394401 | GATAD2B | c.-9A= (n.-9A=) c.415A= (p.Ser139=) | |
| 1 | g.153819657G>A | CA420836204 | GATAD2B | c.-10C>T (n.-10C>T) c.414C>T (p.Ser138=) | |
| 1 | g.153819657G>C | CA420836205 | GATAD2B | c.-10C>G (n.-10C>G) c.414C>G (p.Ser138=) | dbSNP |
| 1 | g.153819657G= | CA2480603209 | GATAD2B | c.-10C= (n.-10C=) c.414C= (p.Ser138=) | |
| 1 | g.153819657G>T | CA420836206 | GATAD2B | c.-10C>A (n.-10C>A) c.414C>A (p.Ser138=) | |
| 1 | g.153819658G>A | CA342535258 | GATAD2B | c.-11C>T (n.-11C>T) c.413C>T (p.Ser138Phe) | dbSNP |
| 1 | g.153819658G>C | CA342535266 | GATAD2B | c.-11C>G (n.-11C>G) c.413C>G (p.Ser138Cys) | dbSNP gnomAD v4 |
| 1 | g.153819658G= | CA2480603210 | GATAD2B | c.-11C= (n.-11C=) c.413C= (p.Ser138=) | |
| 1 | g.153819658G>T | CA342535281 | GATAD2B | c.-11C>A (n.-11C>A) c.413C>A (p.Ser138Tyr) | gnomAD v4 |
| 1 | g.153819659A>C | CA342535294 | GATAD2B | c.-12T>G (n.-12T>G) c.412T>G (p.Ser138Ala) | |
| 1 | g.153819659A>G | CA342535293 | GATAD2B | c.-12T>C (n.-12T>C) c.412T>C (p.Ser138Pro) | |
| 1 | g.153819659A>T | CA342535286 | GATAD2B | c.-12T>A (n.-12T>A) c.412T>A (p.Ser138Thr) | |
| 1 | g.153819660A= | CA2480603211 | GATAD2B | c.-13T= (n.-13T=) c.411T= (p.Arg137=) | |
| 1 | g.153819660A>C | CA420836212 | GATAD2B | c.-13T>G (n.-13T>G) c.411T>G (p.Arg137=) | |
| 1 | g.153819660A>G | CA1120870 | GATAD2B | c.-13T>C (n.-13T>C) c.411T>C (p.Arg137=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.153819660A>T | CA420836213 | GATAD2B | c.-13T>A (n.-13T>A) c.411T>A (p.Arg137=) | |
| 1 | g.153819662_153819667del | CA2573130525 | GATAD2B | c.-18_-13del (n.-18_-13del) c.406_411del (p.Pro136_Arg137del) | ClinVar dbSNP |
| 1 | g.153819661C>A | CA1120872 | GATAD2B | c.-14G>T (n.-14G>T) c.410G>T (p.Arg137Leu) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.153819661C= | CA1143612326 | GATAD2B | c.-14G= (n.-14G=) c.410G= (p.Arg137=) | |
| 1 | g.153819661C>G | CA342535301 | GATAD2B | c.-14G>C (n.-14G>C) c.410G>C (p.Arg137Pro) | |
| 1 | g.153819661C>T | CA1120871 | GATAD2B | c.-14G>A (n.-14G>A) c.410G>A (p.Arg137His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.153819662G>A | CA342535304 | GATAD2B | c.-15C>T (n.-15C>T) c.409C>T (p.Arg137Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.153819662G>C | CA342535306 | GATAD2B | c.-15C>G (n.-15C>G) c.409C>G (p.Arg137Gly) | |
| 1 | g.153819662G= | CA2480603212 | GATAD2B | c.-15C= (n.-15C=) c.409C= (p.Arg137=) | |
| 1 | g.153819662G>T | CA342535308 | GATAD2B | c.-15C>A (n.-15C>A) c.409C>A (p.Arg137Ser) | |
| 1 | g.153819663G>A | CA420836220 | GATAD2B | c.-16C>T (n.-16C>T) c.408C>T (p.Pro136=) | |
| 1 | g.153819663G>C | CA420836221 | GATAD2B | c.-16C>G (n.-16C>G) c.408C>G (p.Pro136=) | |
| 1 | g.153819663G>T | CA420836222 | GATAD2B | c.-16C>A (n.-16C>A) c.408C>A (p.Pro136=) | |
| 1 | g.153819664G>A | CA342535311 | GATAD2B | c.-17C>T (n.-17C>T) c.407C>T (p.Pro136Leu) | |
| 1 | g.153819664G>C | CA342535313 | GATAD2B | c.-17C>G (n.-17C>G) c.407C>G (p.Pro136Arg) | |
| 1 | g.153819664G>T | CA342535315 | GATAD2B | c.-17C>A (n.-17C>A) c.407C>A (p.Pro136His) | |
| 1 | g.153819665G>A | CA342535317 | GATAD2B | c.-18C>T (n.-18C>T) c.406C>T (p.Pro136Ser) | dbSNP COSMIC |
| 1 | g.153819665G>C | CA342535318 | GATAD2B | c.-18C>G (n.-18C>G) c.406C>G (p.Pro136Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.153819665G= | CA2480603213 | GATAD2B | c.-18C= (n.-18C=) c.406C= (p.Pro136=) | |
| 1 | g.153819665G>T | CA342535319 | GATAD2B | c.-18C>A (n.-18C>A) c.406C>A (p.Pro136Thr) | gnomAD v4 |
| 1 | g.153819666A>C | CA342535324 | GATAD2B | c.-19T>G (n.-19T>G) c.405T>G (p.Ser135Arg) | |
| 1 | g.153819666A>G | CA420836226 | GATAD2B | c.-19T>C (n.-19T>C) c.405T>C (p.Ser135=) | |
| 1 | g.153819666A>T | CA342535322 | GATAD2B | c.-19T>A (n.-19T>A) c.405T>A (p.Ser135Arg) | |
| 1 | g.153819667C>A | CA342535326 | GATAD2B | c.-20G>T (n.-20G>T) c.404G>T (p.Ser135Ile) | |
| 1 | g.153819667C>G | CA342535329 | GATAD2B | c.-20G>C (n.-20G>C) c.404G>C (p.Ser135Thr) | |
| 1 | g.153819667C>T | CA342535332 | GATAD2B | c.-20G>A (n.-20G>A) c.404G>A (p.Ser135Asn) | |
| 1 | g.153819668T>A | CA342535343 | GATAD2B | c.-21A>T (n.-21A>T) c.403A>T (p.Ser135Cys) | |
| 1 | g.153819668T>C | CA342535346 | GATAD2B | c.-21A>G (n.-21A>G) c.403A>G (p.Ser135Gly) | dbSNP gnomAD v4 |
| 1 | g.153819668T>G | CA342535355 | GATAD2B | c.-21A>C (n.-21A>C) c.403A>C (p.Ser135Arg) | |
| 1 | g.153819668T= | CA2480603214 | GATAD2B | c.-21A= (n.-21A=) c.403A= (p.Ser135=) | |
| 1 | g.153819669G>A | CA420836230 | GATAD2B | c.-22C>T (n.-22C>T) c.402C>T (p.Ser134=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.153819669G>C | CA1120873 | GATAD2B | c.-22C>G (n.-22C>G) c.402C>G (p.Ser134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.153819669G= | CA2480603215 | GATAD2B | c.-22C= (n.-22C=) c.402C= (p.Ser134=) | |
| 1 | g.153819669G>T | CA420836233 | GATAD2B | c.-22C>A (n.-22C>A) c.402C>A (p.Ser134=) | |
| 1 | g.153819670G>A | CA1120874 | GATAD2B | c.-23C>T (n.-23C>T) c.401C>T (p.Ser134Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.153819670G>C | CA342535360 | GATAD2B | c.-23C>G (n.-23C>G) c.401C>G (p.Ser134Cys) | |
| 1 | g.153819670G= | CA1148443349 | GATAD2B | c.-23C= (n.-23C=) c.401C= (p.Ser134=) | |
| 1 | g.153819670G>T | CA342535363 | GATAD2B | c.-23C>A (n.-23C>A) c.401C>A (p.Ser134Tyr) | |
| 1 | g.153819671A>C | CA342535370 | GATAD2B | c.-24T>G (n.-24T>G) c.400T>G (p.Ser134Ala) | |
| 1 | g.153819671A>G | CA342535374 | GATAD2B | c.-24T>C (n.-24T>C) c.400T>C (p.Ser134Pro) | |
| 1 | g.153819671A>T | CA342535376 | GATAD2B | c.-24T>A (n.-24T>A) c.400T>A (p.Ser134Thr) | |
| 1 | g.153819672A>C | CA420836241 | GATAD2B | c.-25T>G (n.-25T>G) c.399T>G (p.Ala133=) | |
| 1 | g.153819672A>G | CA420836243 | GATAD2B | c.-25T>C (n.-25T>C) c.399T>C (p.Ala133=) | |
| 1 | g.153819672A>T | CA420836245 | GATAD2B | c.-25T>A (n.-25T>A) c.399T>A (p.Ala133=) | ClinVar |
| 1 | g.153819673G>A | CA342535390 | GATAD2B | c.-26C>T (n.-26C>T) c.398C>T (p.Ala133Val) | |
| 1 | g.153819673G>C | CA342535387 | GATAD2B | c.-26C>G (n.-26C>G) c.398C>G (p.Ala133Gly) | |
| 1 | g.153819673G>T | CA342535383 | GATAD2B | c.-26C>A (n.-26C>A) c.398C>A (p.Ala133Asp) | |
| 1 | g.153819674C>A | CA342535395 | GATAD2B | c.-27G>T (n.-27G>T) c.397G>T (p.Ala133Ser) | |
| 1 | g.153819674C>G | CA342535397 | GATAD2B | c.-27G>C (n.-27G>C) c.397G>C (p.Ala133Pro) | |
| 1 | g.153819674C>T | CA342535400 | GATAD2B | c.-27G>A (n.-27G>A) c.397G>A (p.Ala133Thr) | ClinVar |
| 1 | g.153819675C>A | CA342535404 | GATAD2B | c.-28G>T (n.-28G>T) c.396G>T (p.Glu132Asp) | gnomAD v4 |
| 1 | g.153819675C>G | CA342535408 | GATAD2B | c.-28G>C (n.-28G>C) c.396G>C (p.Glu132Asp) | |
| 1 | g.153819675C>T | CA420836252 | GATAD2B | c.-28G>A (n.-28G>A) c.396G>A (p.Glu132=) | |
| 1 | g.153819676T>A | CA342535413 | GATAD2B | c.-29A>T (n.-29A>T) c.395A>T (p.Glu132Val) | |
| 1 | g.153819676T>C | CA342535421 | GATAD2B | c.-29A>G (n.-29A>G) c.395A>G (p.Glu132Gly) | |
| 1 | g.153819676T>G | CA342535426 | GATAD2B | c.-29A>C (n.-29A>C) c.395A>C (p.Glu132Ala) | |
| 1 | g.153819677C>A | CA342535432 | GATAD2B | c.-30G>T (n.-30G>T) c.394G>T (p.Glu132Ter) n.112G>T | |
| 1 | g.153819677C>G | CA342535435 | GATAD2B | c.-30G>C (n.-30G>C) c.394G>C (p.Glu132Gln) n.112G>C | |
| 1 | g.153819677C>T | CA342535441 | GATAD2B | c.-30G>A (n.-30G>A) c.394G>A (p.Glu132Lys) n.112G>A | |
| 1 | g.153819678A>C | CA342535447 | GATAD2B | c.-31T>G (n.-31T>G) c.393T>G (p.Asn131Lys) n.111T>G | |
| 1 | g.153819678A>G | CA420836257 | GATAD2B | c.-31T>C (n.-31T>C) c.393T>C (p.Asn131=) n.111T>C | gnomAD v4 |
| 1 | g.153819678A>T | CA342535459 | GATAD2B | c.-31T>A (n.-31T>A) c.393T>A (p.Asn131Lys) n.111T>A | |
| 1 | g.153819679T>A | CA342535467 | GATAD2B | c.-32A>T (n.-32A>T) c.392A>T (p.Asn131Ile) n.110A>T | |
| 1 | g.153819679T>C | CA342535472 | GATAD2B | c.-32A>G (n.-32A>G) c.392A>G (p.Asn131Ser) n.110A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.153819679T>G | CA342535464 | GATAD2B | c.-32A>C (n.-32A>C) c.392A>C (p.Asn131Thr) n.110A>C | |
| 1 | g.153819679T= | CA2480603216 | GATAD2B | c.-32A= (n.-32A=) c.392A= (p.Asn131=) n.110A= | |
| 1 | g.153819682_153819683insTTTGT | CA2648092300 | GATAD2B | c.-32_-31insAACAA (n.-32_-31insAACAA) c.392_393insAACAA (p.Asn131LysfsTer23) n.110_111insAACAA c.392_393insAACAA (p.Asn131LysfsTer?) | gnomAD v4 |
| 1 | g.153819680T>A | CA342535473 | GATAD2B | c.-33A>T (n.-33A>T) c.391A>T (p.Asn131Tyr) n.109A>T | |
| 1 | g.153819680T>C | CA342535477 | GATAD2B | c.-33A>G (n.-33A>G) c.391A>G (p.Asn131Asp) n.109A>G | gnomAD v4 |
| 1 | g.153819680T>G | CA342535474 | GATAD2B | c.-33A>C (n.-33A>C) c.391A>C (p.Asn131His) n.109A>C | |
| 1 | g.153819681G>A | CA420836262 | GATAD2B | c.-34C>T (n.-34C>T) c.390C>T (p.Asp130=) n.108C>T | |
| 1 | g.153819681G>C | CA342535483 | GATAD2B | c.-34C>G (n.-34C>G) c.390C>G (p.Asp130Glu) n.108C>G | |
| 1 | g.153819681G>T | CA342535487 | GATAD2B | c.-34C>A (n.-34C>A) c.390C>A (p.Asp130Glu) n.108C>A | |
| 1 | g.153819682T>A | CA342535493 | GATAD2B | c.-35A>T (n.-35A>T) c.389A>T (p.Asp130Val) n.107A>T | |
| 1 | g.153819682T>C | CA342535497 | GATAD2B | c.-35A>G (n.-35A>G) c.389A>G (p.Asp130Gly) n.107A>G | |
| 1 | g.153819682T>G | CA342535502 | GATAD2B | c.-35A>C (n.-35A>C) c.389A>C (p.Asp130Ala) n.107A>C | |
| 1 | g.153819683C>A | CA342535509 | GATAD2B | c.-36G>T (n.-36G>T) c.388G>T (p.Asp130Tyr) n.106G>T | |
| 1 | g.153819683C>G | CA342535514 | GATAD2B | c.-36G>C (n.-36G>C) c.388G>C (p.Asp130His) n.106G>C | |
| 1 | g.153819683C>T | CA342535518 | GATAD2B | c.-36G>A (n.-36G>A) c.388G>A (p.Asp130Asn) n.106G>A | |
| 1 | g.153819683_153819684delinsCA | CA2480603217 | GATAD2B | c.-37_-36delinsTG (n.-37_-36delinsTG) c.387_388delinsTG (p.Ser129=) n.105_106delinsTG | |
| 1 | g.153819684del | CA1120875 | GATAD2B | c.-37del (n.-37del) c.387del (p.Asp130ThrfsTer22) n.105del c.387del (p.Asp130ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.153819684A>C | CA420836269 | GATAD2B | c.-37T>G (n.-37T>G) c.387T>G (p.Ser129=) n.105T>G | |
| 1 | g.153819684A>G | CA420836273 | GATAD2B | c.-37T>C (n.-37T>C) c.387T>C (p.Ser129=) n.105T>C | gnomAD v4 |
| 1 | g.153819684A>T | CA420836276 | GATAD2B | c.-37T>A (n.-37T>A) c.387T>A (p.Ser129=) n.105T>A | gnomAD v4 |
| 1 | g.153819685G>A | CA342535530 | GATAD2B | c.-38C>T (n.-38C>T) c.386C>T (p.Ser129Phe) n.104C>T | |
| 1 | g.153819685G>C | CA342535538 | GATAD2B | c.-38C>G (n.-38C>G) c.386C>G (p.Ser129Cys) n.104C>G | |
| 1 | g.153819685G>T | CA342535545 | GATAD2B | c.-38C>A (n.-38C>A) c.386C>A (p.Ser129Tyr) n.104C>A | |
| 1 | g.153819686A>C | CA342535559 | GATAD2B | c.-39T>G (n.-39T>G) c.385T>G (p.Ser129Ala) n.103T>G | |
| 1 | g.153819686A>G | CA342535555 | GATAD2B | c.-39T>C (n.-39T>C) c.385T>C (p.Ser129Pro) n.103T>C | |
| 1 | g.153819686A>T | CA342535553 | GATAD2B | c.-39T>A (n.-39T>A) c.385T>A (p.Ser129Thr) n.103T>A | |
| 1 | g.153819690_153819694del | CA2648092301 | GATAD2B | c.-43_-39del (n.-43_-39del) c.381_385del (p.Leu128Ter) n.99_103del | gnomAD v4 |
| 1 | g.153819687C>A | CA1120876 | GATAD2B | c.-40G>T (n.-40G>T) c.384G>T (p.Leu128Phe) n.102G>T | dbSNP ExAC gnomAD v2 |
| 1 | g.153819687C= | CA2480603218 | GATAD2B | c.-40G= (n.-40G=) c.384G= (p.Leu128=) n.102G= | |
| 1 | g.153819687C>G | CA342535588 | GATAD2B | c.-40G>C (n.-40G>C) c.384G>C (p.Leu128Phe) n.102G>C | |
| 1 | g.153819687C>T | CA1120877 | GATAD2B | c.-40G>A (n.-40G>A) c.384G>A (p.Leu128=) n.102G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.153819688A>C | CA342535597 | GATAD2B | c.-41T>G (n.-41T>G) c.383T>G (p.Leu128Trp) n.101T>G | |
| 1 | g.153819688A>G | CA342535606 | GATAD2B | c.-41T>C (n.-41T>C) c.383T>C (p.Leu128Ser) n.101T>C | |
| 1 | g.153819688A>T | CA342535608 | GATAD2B | c.-41T>A (n.-41T>A) c.383T>A (p.Leu128Ter) n.101T>A | |
| 1 | g.153819691del | CA2586967315 | GATAD2B | c.-41del (n.-41del) c.383del (p.Leu128CysfsTer24) n.101del c.383del (p.Leu128CysfsTer?) | |
| 1 | g.153819689A= | CA2480603219 | GATAD2B | c.-42T= (n.-42T=) c.382T= (p.Leu128=) n.100T= | |
| 1 | g.153819689A>C | CA342535623 | GATAD2B | c.-42T>G (n.-42T>G) c.382T>G (p.Leu128Val) n.100T>G | |
| 1 | g.153819689A>G | CA1120878 | GATAD2B | c.-42T>C (n.-42T>C) c.382T>C (p.Leu128=) n.100T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.153819689A>T | CA342535630 | GATAD2B | c.-42T>A (n.-42T>A) c.382T>A (p.Leu128Met) n.100T>A | |
| 1 | g.153819689_153819690insCTTAG | CA2506502919 | GATAD2B | c.-43_-42insCTAAG (n.-43_-42insCTAAG) c.381_382insCTAAG (p.Asp130CysfsTer24) n.99_100insCTAAG c.381_382insCTAAG (p.Asp130CysfsTer?) | |
| 1 | g.153819690A>C | CA420836289 | GATAD2B | c.-43T>G (n.-43T>G) c.381T>G (p.Val127=) n.99T>G | |
| 1 | g.153819690A>G | CA420836287 | GATAD2B | c.-43T>C (n.-43T>C) c.381T>C (p.Val127=) n.99T>C | |
| 1 | g.153819690A>T | CA420836285 | GATAD2B | c.-43T>A (n.-43T>A) c.381T>A (p.Val127=) n.99T>A | |
| 1 | g.153819691A>C | CA342535647 | GATAD2B | c.-44T>G (n.-44T>G) c.380T>G (p.Val127Gly) n.98T>G | |
| 1 | g.153819691A>G | CA342535661 | GATAD2B | c.-44T>C (n.-44T>C) c.380T>C (p.Val127Ala) n.98T>C | |
| 1 | g.153819691A>T | CA342535662 | GATAD2B | c.-44T>A (n.-44T>A) c.380T>A (p.Val127Asp) n.98T>A | ClinVar |
| 1 | g.153819691_153819695del | CA2532379690 | GATAD2B | c.-48_-44del (n.-48_-44del) c.376_380del (p.Ile126PhefsTer3) n.94_98del | |
| 1 | g.153819692C>A | CA342535664 | GATAD2B | c.-45G>T (n.-45G>T) c.379G>T (p.Val127Phe) n.97G>T | |
| 1 | g.153819692C>G | CA342535667 | GATAD2B | c.-45G>C (n.-45G>C) c.379G>C (p.Val127Leu) n.97G>C | |
| 1 | g.153819692C>T | CA342535663 | GATAD2B | c.-45G>A (n.-45G>A) c.379G>A (p.Val127Ile) n.97G>A | |
| 1 | g.153819693A= | CA2480603220 | GATAD2B | c.-46T= (n.-46T=) c.378T= (p.Ile126=) n.96T= | |
| 1 | g.153819693A>C | CA342535672 | GATAD2B | c.-46T>G (n.-46T>G) c.378T>G (p.Ile126Met) n.96T>G | |
| 1 | g.153819693A>G | CA30710996 | GATAD2B | c.-46T>C (n.-46T>C) c.378T>C (p.Ile126=) n.96T>C | dbSNP |
| 1 | g.153819693A>T | CA420836293 | GATAD2B | c.-46T>A (n.-46T>A) c.378T>A (p.Ile126=) n.96T>A | |
| 1 | g.153819693_153819695del | CA2648092302 | GATAD2B | c.-48_-46del (n.-48_-46del) c.376_378del (p.Ile126del) n.94_96del | gnomAD v4 |
| 1 | g.153819694A>C | CA342535678 | GATAD2B | c.-47T>G (n.-47T>G) c.377T>G (p.Ile126Ser) n.95T>G | |
| 1 | g.153819694A>G | CA342535682 | GATAD2B | c.-47T>C (n.-47T>C) c.377T>C (p.Ile126Thr) n.95T>C | ClinVar gnomAD v4 |
| 1 | g.153819694A>T | CA342535685 | GATAD2B | c.-47T>A (n.-47T>A) c.377T>A (p.Ile126Asn) n.95T>A | |
| 1 | g.153819695T>A | CA342535691 | GATAD2B | c.-48A>T (n.-48A>T) c.376A>T (p.Ile126Phe) n.94A>T | |
| 1 | g.153819695T>C | CA30710998 | GATAD2B | c.-48A>G (n.-48A>G) c.376A>G (p.Ile126Val) n.94A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.153819695T>G | CA342535696 | GATAD2B | c.-48A>C (n.-48A>C) c.376A>C (p.Ile126Leu) n.94A>C | |
| 1 | g.153819695T= | CA1141699341 | GATAD2B | c.-48A= (n.-48A=) c.376A= (p.Ile126=) n.94A= | |
| 1 | g.153819696G>A | CA420836297 | GATAD2B | c.-49C>T (n.-49C>T) c.375C>T (p.Ile125=) n.93C>T | |
| 1 | g.153819696G>C | CA342535698 | GATAD2B | c.-49C>G (n.-49C>G) c.375C>G (p.Ile125Met) n.93C>G | |
| 1 | g.153819696G= | CA2480603221 | GATAD2B | c.-49C= (n.-49C=) c.375C= (p.Ile125=) n.93C= | |
| 1 | g.153819696G>T | CA420836299 | GATAD2B | c.-49C>A (n.-49C>A) c.375C>A (p.Ile125=) n.93C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.153819697A= | CA2480603222 | GATAD2B | c.-50T= (n.-50T=) c.374T= (p.Ile125=) n.92T= | |
| 1 | g.153819697A>C | CA342535702 | GATAD2B | c.-50T>G (n.-50T>G) c.374T>G (p.Ile125Ser) n.92T>G | |
| 1 | g.153819697A>G | CA342535707 | GATAD2B | c.-50T>C (n.-50T>C) c.374T>C (p.Ile125Thr) n.92T>C | |
| 1 | g.153819697A>T | CA342535709 | GATAD2B | c.-50T>A (n.-50T>A) c.374T>A (p.Ile125Asn) n.92T>A | dbSNP |
| 1 | g.153819698T>A | CA342535713 | GATAD2B | c.-51A>T (n.-51A>T) c.373A>T (p.Ile125Phe) n.91A>T | |
| 1 | g.153819698T>C | CA342535716 | GATAD2B | c.-51A>G (n.-51A>G) c.373A>G (p.Ile125Val) n.91A>G | dbSNP gnomAD v4 |
| 1 | g.153819698T>G | CA342535720 | GATAD2B | c.-51A>C (n.-51A>C) c.373A>C (p.Ile125Leu) n.91A>C | |
| 1 | g.153819698T= | CA2480603223 | GATAD2B | c.-51A= (n.-51A=) c.373A= (p.Ile125=) n.91A= |