Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.43178084A>C | CA371116878 | HGSNAT | c.862A>C (p.Ile288Leu) c.103A>C (p.Ile35Leu) c.821-4061A>C (n.821-4061A>C) c.-3A>C (n.-3A>C) | |
8 | g.43178084A>G | CA371116875 | HGSNAT | c.862A>G (p.Ile288Val) c.103A>G (p.Ile35Val) c.821-4061A>G (n.821-4061A>G) c.-3A>G (n.-3A>G) | gnomAD v4 |
8 | g.43178084A>T | CA371116877 | HGSNAT | c.862A>T (p.Ile288Phe) c.103A>T (p.Ile35Phe) c.821-4061A>T (n.821-4061A>T) c.-3A>T (n.-3A>T) | |
8 | g.43178085T>A | CA371116880 | HGSNAT | c.863T>A (p.Ile288Asn) c.104T>A (p.Ile35Asn) c.821-4060T>A (n.821-4060T>A) c.-2T>A (n.-2T>A) | |
8 | g.43178085T>C | CA371116881 | HGSNAT | c.863T>C (p.Ile288Thr) c.104T>C (p.Ile35Thr) c.821-4060T>C (n.821-4060T>C) c.-2T>C (n.-2T>C) | gnomAD v4 |
8 | g.43178085T>G | CA371116882 | HGSNAT | c.863T>G (p.Ile288Ser) c.104T>G (p.Ile35Ser) c.821-4060T>G (n.821-4060T>G) c.-2T>G (n.-2T>G) | |
8 | g.43178086del | CA645545456 | HGSNAT | c.864del (p.Met289TrpfsTer9) c.105del (p.Met36TrpfsTer9) c.821-4059del (n.821-4059del) c.-1del (n.-1del) | COSMIC |
8 | g.43178086T>A | CA460572595 | HGSNAT | c.864T>A (p.Ile288=) c.105T>A (p.Ile35=) c.821-4059T>A (n.821-4059T>A) c.-1T>A (n.-1T>A) | |
8 | g.43178086T>C | CA460572597 | HGSNAT | c.864T>C (p.Ile288=) c.105T>C (p.Ile35=) c.821-4059T>C (n.821-4059T>C) c.-1T>C (n.-1T>C) | gnomAD v4 |
8 | g.43178086T>G | CA371116883 | HGSNAT | c.864T>G (p.Ile288Met) c.105T>G (p.Ile35Met) c.821-4059T>G (n.821-4059T>G) c.-1T>G (n.-1T>G) | |
8 | g.43178087A= | CA1779771381 | HGSNAT | c.865A= (p.Met289=) c.106A= (p.Met36=) c.821-4058A= (n.821-4058A=) c.1A= (p.Met1=) | |
8 | g.43178087A>C | CA371116885 | HGSNAT | c.865A>C (p.Met289Leu) c.106A>C (p.Met36Leu) c.821-4058A>C (n.821-4058A>C) c.1A>C (p.Met1Leu) | |
8 | g.43178087A>G | CA371116886 | HGSNAT | c.865A>G (p.Met289Val) c.106A>G (p.Met36Val) c.821-4058A>G (n.821-4058A>G) c.1A>G (p.Met1Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43178087A>T | CA371116887 | HGSNAT | c.865A>T (p.Met289Leu) c.106A>T (p.Met36Leu) c.821-4058A>T (n.821-4058A>T) c.1A>T (p.Met1Leu) | |
8 | g.43178088T>A | CA371116888 | HGSNAT | c.866T>A (p.Met289Lys) c.107T>A (p.Met36Lys) c.821-4057T>A (n.821-4057T>A) c.2T>A (p.Met1Lys) | |
8 | g.43178088T>C | CA371116890 | HGSNAT | c.866T>C (p.Met289Thr) c.107T>C (p.Met36Thr) c.821-4057T>C (n.821-4057T>C) c.2T>C (p.Met1Thr) | gnomAD v4 |
8 | g.43178088T>G | CA371116891 | HGSNAT | c.866T>G (p.Met289Arg) c.107T>G (p.Met36Arg) c.821-4057T>G (n.821-4057T>G) c.2T>G (p.Met1Arg) | |
8 | g.43178089G>A | CA371116895 | HGSNAT | c.867G>A (p.Met289Ile) c.108G>A (p.Met36Ile) c.821-4056G>A (n.821-4056G>A) c.3G>A (p.Met1Ile) | |
8 | g.43178089G>C | CA371116896 | HGSNAT | c.867G>C (p.Met289Ile) c.108G>C (p.Met36Ile) c.821-4056G>C (n.821-4056G>C) c.3G>C (p.Met1Ile) | |
8 | g.43178089G>T | CA371116893 | HGSNAT | c.867G>T (p.Met289Ile) c.108G>T (p.Met36Ile) c.821-4056G>T (n.821-4056G>T) c.3G>T (p.Met1Ile) | |
8 | g.43178090G>A | CA371116898 | HGSNAT | c.868G>A (p.Gly290Arg) c.109G>A (p.Gly37Arg) c.821-4055G>A (n.821-4055G>A) c.4G>A (p.Gly2Arg) | |
8 | g.43178090G>C | CA371116900 | HGSNAT | c.868G>C (p.Gly290Arg) c.109G>C (p.Gly37Arg) c.821-4055G>C (n.821-4055G>C) c.4G>C (p.Gly2Arg) | |
8 | g.43178090G>T | CA371116902 | HGSNAT | c.868G>T (p.Gly290Ter) c.109G>T (p.Gly37Ter) c.821-4055G>T (n.821-4055G>T) c.4G>T (p.Gly2Ter) | |
8 | g.43178091G>A | CA371116903 | HGSNAT | c.869G>A (p.Gly290Glu) c.110G>A (p.Gly37Glu) c.821-4054G>A (n.821-4054G>A) c.5G>A (p.Gly2Glu) | |
8 | g.43178091G>C | CA371116904 | HGSNAT | c.869G>C (p.Gly290Ala) c.110G>C (p.Gly37Ala) c.821-4054G>C (n.821-4054G>C) c.5G>C (p.Gly2Ala) | |
8 | g.43178091G>T | CA371116906 | HGSNAT | c.869G>T (p.Gly290Val) c.110G>T (p.Gly37Val) c.821-4054G>T (n.821-4054G>T) c.5G>T (p.Gly2Val) | |
8 | g.43178092A>C | CA460572634 | HGSNAT | c.870A>C (p.Gly290=) c.111A>C (p.Gly37=) c.821-4053A>C (n.821-4053A>C) c.6A>C (p.Gly2=) | |
8 | g.43178092A>G | CA460572638 | HGSNAT | c.870A>G (p.Gly290=) c.111A>G (p.Gly37=) c.821-4053A>G (n.821-4053A>G) c.6A>G (p.Gly2=) | |
8 | g.43178092A>T | CA460572636 | HGSNAT | c.870A>T (p.Gly290=) c.111A>T (p.Gly37=) c.821-4053A>T (n.821-4053A>T) c.6A>T (p.Gly2=) | |
8 | g.43178093T>A | CA4736676 | HGSNAT | c.871T>A (p.Ser291Thr) c.112T>A (p.Ser38Thr) c.821-4052T>A (n.821-4052T>A) c.7T>A (p.Ser3Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43178093T>C | CA371116908 | HGSNAT | c.871T>C (p.Ser291Pro) c.112T>C (p.Ser38Pro) c.821-4052T>C (n.821-4052T>C) c.7T>C (p.Ser3Pro) | |
8 | g.43178093T>G | CA371116910 | HGSNAT | c.871T>G (p.Ser291Ala) c.112T>G (p.Ser38Ala) c.821-4052T>G (n.821-4052T>G) c.7T>G (p.Ser3Ala) | |
8 | g.43178093T= | CA1779771382 | HGSNAT | c.871T= (p.Ser291=) c.112T= (p.Ser38=) c.821-4052T= (n.821-4052T=) c.7T= (p.Ser3=) | |
8 | g.43178094C>A | CA371116911 | HGSNAT | c.872C>A (p.Ser291Tyr) c.113C>A (p.Ser38Tyr) c.821-4051C>A (n.821-4051C>A) c.8C>A (p.Ser3Tyr) | |
8 | g.43178094C>G | CA371116912 | HGSNAT | c.872C>G (p.Ser291Cys) c.113C>G (p.Ser38Cys) c.821-4051C>G (n.821-4051C>G) c.8C>G (p.Ser3Cys) | |
8 | g.43178094C>T | CA371116914 | HGSNAT | c.872C>T (p.Ser291Phe) c.113C>T (p.Ser38Phe) c.821-4051C>T (n.821-4051C>T) c.8C>T (p.Ser3Phe) | |
8 | g.43178095T>A | CA460572655 | HGSNAT | c.873T>A (p.Ser291=) c.114T>A (p.Ser38=) c.821-4050T>A (n.821-4050T>A) c.9T>A (p.Ser3=) | |
8 | g.43178095T>C | CA460572658 | HGSNAT | c.873T>C (p.Ser291=) c.114T>C (p.Ser38=) c.821-4050T>C (n.821-4050T>C) c.9T>C (p.Ser3=) | dbSNP |
8 | g.43178095T>G | CA460572661 | HGSNAT | c.873T>G (p.Ser291=) c.114T>G (p.Ser38=) c.821-4050T>G (n.821-4050T>G) c.9T>G (p.Ser3=) | |
8 | g.43178095T= | CA1779771383 | HGSNAT | c.873T= (p.Ser291=) c.114T= (p.Ser38=) c.821-4050T= (n.821-4050T=) c.9T= (p.Ser3=) | |
8 | g.43178096T>A | CA371116918 | HGSNAT | c.874T>A (p.Ser292Thr) c.115T>A (p.Ser39Thr) c.821-4049T>A (n.821-4049T>A) c.10T>A (p.Ser4Thr) | |
8 | g.43178096T>C | CA371116919 | HGSNAT | c.874T>C (p.Ser292Pro) c.115T>C (p.Ser39Pro) c.821-4049T>C (n.821-4049T>C) c.10T>C (p.Ser4Pro) | |
8 | g.43178096T>G | CA371116916 | HGSNAT | c.874T>G (p.Ser292Ala) c.115T>G (p.Ser39Ala) c.821-4049T>G (n.821-4049T>G) c.10T>G (p.Ser4Ala) | |
8 | g.43178097C>A | CA371116921 | HGSNAT | c.875C>A (p.Ser292Tyr) c.116C>A (p.Ser39Tyr) c.821-4048C>A (n.821-4048C>A) c.11C>A (p.Ser4Tyr) | |
8 | g.43178097C= | CA1779771384 | HGSNAT | c.875C= (p.Ser292=) c.116C= (p.Ser39=) c.821-4048C= (n.821-4048C=) c.11C= (p.Ser4=) | |
8 | g.43178097C>G | CA371116923 | HGSNAT | c.875C>G (p.Ser292Cys) c.116C>G (p.Ser39Cys) c.821-4048C>G (n.821-4048C>G) c.11C>G (p.Ser4Cys) | |
8 | g.43178097C>T | CA176068184 | HGSNAT | c.875C>T (p.Ser292Phe) c.116C>T (p.Ser39Phe) c.821-4048C>T (n.821-4048C>T) c.11C>T (p.Ser4Phe) | dbSNP COSMIC |
8 | g.43178098C>A | CA460572676 | HGSNAT | c.876C>A (p.Ser292=) c.117C>A (p.Ser39=) c.821-4047C>A (n.821-4047C>A) c.12C>A (p.Ser4=) | |
8 | g.43178098C>G | CA460572678 | HGSNAT | c.876C>G (p.Ser292=) c.117C>G (p.Ser39=) c.821-4047C>G (n.821-4047C>G) c.12C>G (p.Ser4=) | |
8 | g.43178098C>T | CA460572680 | HGSNAT | c.876C>T (p.Ser292=) c.117C>T (p.Ser39=) c.821-4047C>T (n.821-4047C>T) c.12C>T (p.Ser4=) | |
8 | g.43178099A= | CA1779771385 | HGSNAT | c.877A= (p.Ile293=) c.118A= (p.Ile40=) c.821-4046A= (n.821-4046A=) c.13A= (p.Ile5=) | |
8 | g.43178099A>C | CA371116925 | HGSNAT | c.877A>C (p.Ile293Leu) c.118A>C (p.Ile40Leu) c.821-4046A>C (n.821-4046A>C) c.13A>C (p.Ile5Leu) | |
8 | g.43178099A>G | CA4736677 | HGSNAT | c.877A>G (p.Ile293Val) c.118A>G (p.Ile40Val) c.821-4046A>G (n.821-4046A>G) c.13A>G (p.Ile5Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43178099A>T | CA371116927 | HGSNAT | c.877A>T (p.Ile293Phe) c.118A>T (p.Ile40Phe) c.821-4046A>T (n.821-4046A>T) c.13A>T (p.Ile5Phe) | |
8 | g.43178100T>A | CA371116929 | HGSNAT | c.878T>A (p.Ile293Asn) c.119T>A (p.Ile40Asn) c.821-4045T>A (n.821-4045T>A) c.14T>A (p.Ile5Asn) | |
8 | g.43178100T>C | CA371116932 | HGSNAT | c.878T>C (p.Ile293Thr) c.119T>C (p.Ile40Thr) c.821-4045T>C (n.821-4045T>C) c.14T>C (p.Ile5Thr) | gnomAD v4 |
8 | g.43178100T>G | CA371116930 | HGSNAT | c.878T>G (p.Ile293Ser) c.119T>G (p.Ile40Ser) c.821-4045T>G (n.821-4045T>G) c.14T>G (p.Ile5Ser) | |
8 | g.43178101T>A | CA460572711 | HGSNAT | c.879T>A (p.Ile293=) c.120T>A (p.Ile40=) c.821-4044T>A (n.821-4044T>A) c.15T>A (p.Ile5=) | |
8 | g.43178101T>C | CA460572715 | HGSNAT | c.879T>C (p.Ile293=) c.120T>C (p.Ile40=) c.821-4044T>C (n.821-4044T>C) c.15T>C (p.Ile5=) | |
8 | g.43178101T>G | CA371116934 | HGSNAT | c.879T>G (p.Ile293Met) c.120T>G (p.Ile40Met) c.821-4044T>G (n.821-4044T>G) c.15T>G (p.Ile5Met) | |
8 | g.43178102T>A | CA371116936 | HGSNAT | c.880T>A (p.Phe294Ile) c.121T>A (p.Phe41Ile) c.821-4043T>A (n.821-4043T>A) c.16T>A (p.Phe6Ile) | |
8 | g.43178102T>C | CA371116937 | HGSNAT | c.880T>C (p.Phe294Leu) c.121T>C (p.Phe41Leu) c.821-4043T>C (n.821-4043T>C) c.16T>C (p.Phe6Leu) | |
8 | g.43178102T>G | CA371116939 | HGSNAT | c.880T>G (p.Phe294Val) c.121T>G (p.Phe41Val) c.821-4043T>G (n.821-4043T>G) c.16T>G (p.Phe6Val) | |
8 | g.43178103T>A | CA371116944 | HGSNAT | c.881T>A (p.Phe294Tyr) c.122T>A (p.Phe41Tyr) c.821-4042T>A (n.821-4042T>A) c.17T>A (p.Phe6Tyr) | |
8 | g.43178103T>C | CA371116943 | HGSNAT | c.881T>C (p.Phe294Ser) c.122T>C (p.Phe41Ser) c.821-4042T>C (n.821-4042T>C) c.17T>C (p.Phe6Ser) | |
8 | g.43178103T>G | CA371116941 | HGSNAT | c.881T>G (p.Phe294Cys) c.122T>G (p.Phe41Cys) c.821-4042T>G (n.821-4042T>G) c.17T>G (p.Phe6Cys) | |
8 | g.43178104T>A | CA371116946 | HGSNAT | c.882T>A (p.Phe294Leu) c.123T>A (p.Phe41Leu) c.821-4041T>A (n.821-4041T>A) c.18T>A (p.Phe6Leu) | |
8 | g.43178104T>C | CA460572737 | HGSNAT | c.882T>C (p.Phe294=) c.123T>C (p.Phe41=) c.821-4041T>C (n.821-4041T>C) c.18T>C (p.Phe6=) | |
8 | g.43178104T>G | CA371116948 | HGSNAT | c.882T>G (p.Phe294Leu) c.123T>G (p.Phe41Leu) c.821-4041T>G (n.821-4041T>G) c.18T>G (p.Phe6Leu) | |
8 | g.43178105C>A | CA371116950 | HGSNAT | c.883C>A (p.Leu295Ile) c.124C>A (p.Leu42Ile) c.821-4040C>A (n.821-4040C>A) c.19C>A (p.Leu7Ile) | |
8 | g.43178105C= | CA1779771386 | HGSNAT | c.883C= (p.Leu295=) c.124C= (p.Leu42=) c.821-4040C= (n.821-4040C=) c.19C= (p.Leu7=) | |
8 | g.43178105C>G | CA371116951 | HGSNAT | c.883C>G (p.Leu295Val) c.124C>G (p.Leu42Val) c.821-4040C>G (n.821-4040C>G) c.19C>G (p.Leu7Val) | dbSNP gnomAD v2 |
8 | g.43178105C>T | CA460572748 | HGSNAT | c.883C>T (p.Leu295=) c.124C>T (p.Leu42=) c.821-4040C>T (n.821-4040C>T) c.19C>T (p.Leu7=) | |
8 | g.43178106T>A | CA371116952 | HGSNAT | c.884T>A (p.Leu295Gln) c.125T>A (p.Leu42Gln) c.821-4039T>A (n.821-4039T>A) c.20T>A (p.Leu7Gln) | gnomAD v4 |
8 | g.43178106T>C | CA371116953 | HGSNAT | c.884T>C (p.Leu295Pro) c.125T>C (p.Leu42Pro) c.821-4039T>C (n.821-4039T>C) c.20T>C (p.Leu7Pro) | |
8 | g.43178106T>G | CA371116955 | HGSNAT | c.884T>G (p.Leu295Arg) c.125T>G (p.Leu42Arg) c.821-4039T>G (n.821-4039T>G) c.20T>G (p.Leu7Arg) | |
8 | g.43178107A= | CA1779771387 | HGSNAT | c.885A= (p.Leu295=) c.126A= (p.Leu42=) c.821-4038A= (n.821-4038A=) c.21A= (p.Leu7=) | |
8 | g.43178107A>C | CA460572764 | HGSNAT | c.885A>C (p.Leu295=) c.126A>C (p.Leu42=) c.821-4038A>C (n.821-4038A>C) c.21A>C (p.Leu7=) | |
8 | g.43178107A>G | CA4736678 | HGSNAT | c.885A>G (p.Leu295=) c.126A>G (p.Leu42=) c.821-4038A>G (n.821-4038A>G) c.21A>G (p.Leu7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178107A>T | CA460572767 | HGSNAT | c.885A>T (p.Leu295=) c.126A>T (p.Leu42=) c.821-4038A>T (n.821-4038A>T) c.21A>T (p.Leu7=) | |
8 | g.43178108del | CA2687154552 | HGSNAT | c.886del (p.Ser296ArgfsTer2) c.127del (p.Ser43ArgfsTer2) c.821-4037del (n.821-4037del) c.22del (p.Ser8ArgfsTer2) | gnomAD v4 |
8 | g.43178108T>A | CA371116958 | HGSNAT | c.886T>A (p.Ser296Thr) c.127T>A (p.Ser43Thr) c.821-4037T>A (n.821-4037T>A) c.22T>A (p.Ser8Thr) | |
8 | g.43178108T>C | CA371116959 | HGSNAT | c.886T>C (p.Ser296Pro) c.127T>C (p.Ser43Pro) c.821-4037T>C (n.821-4037T>C) c.22T>C (p.Ser8Pro) | |
8 | g.43178108T>G | CA371116960 | HGSNAT | c.886T>G (p.Ser296Ala) c.127T>G (p.Ser43Ala) c.821-4037T>G (n.821-4037T>G) c.22T>G (p.Ser8Ala) | |
8 | g.43178109C>A | CA371116962 | HGSNAT | c.887C>A (p.Ser296Ter) c.128C>A (p.Ser43Ter) c.821-4036C>A (n.821-4036C>A) c.23C>A (p.Ser8Ter) | ClinVar dbSNP |
8 | g.43178109C= | CA1779771388 | HGSNAT | c.887C= (p.Ser296=) c.128C= (p.Ser43=) c.821-4036C= (n.821-4036C=) c.23C= (p.Ser8=) | |
8 | g.43178109C>G | CA371116964 | HGSNAT | c.887C>G (p.Ser296Trp) c.128C>G (p.Ser43Trp) c.821-4036C>G (n.821-4036C>G) c.23C>G (p.Ser8Trp) | |
8 | g.43178109C>T | CA4736679 | HGSNAT | c.887C>T (p.Ser296Leu) c.128C>T (p.Ser43Leu) c.821-4036C>T (n.821-4036C>T) c.23C>T (p.Ser8Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178110G>A | CA4736680 | HGSNAT | c.888G>A (p.Ser296=) c.129G>A (p.Ser43=) c.821-4035G>A (n.821-4035G>A) c.24G>A (p.Ser8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178110G>C | CA460572793 | HGSNAT | c.888G>C (p.Ser296=) c.129G>C (p.Ser43=) c.821-4035G>C (n.821-4035G>C) c.24G>C (p.Ser8=) | ClinVar |
8 | g.43178110G= | CA1779771389 | HGSNAT | c.888G= (p.Ser296=) c.129G= (p.Ser43=) c.821-4035G= (n.821-4035G=) c.24G= (p.Ser8=) | |
8 | g.43178110G>T | CA460572800 | HGSNAT | c.888G>T (p.Ser296=) c.129G>T (p.Ser43=) c.821-4035G>T (n.821-4035G>T) c.24G>T (p.Ser8=) | |
8 | g.43178111A>C | CA371116967 | HGSNAT | c.889A>C (p.Met297Leu) c.130A>C (p.Met44Leu) c.821-4034A>C (n.821-4034A>C) c.25A>C (p.Met9Leu) | |
8 | g.43178111A>G | CA371116969 | HGSNAT | c.889A>G (p.Met297Val) c.130A>G (p.Met44Val) c.821-4034A>G (n.821-4034A>G) c.25A>G (p.Met9Val) | |
8 | g.43178111A>T | CA371116970 | HGSNAT | c.889A>T (p.Met297Leu) c.130A>T (p.Met44Leu) c.821-4034A>T (n.821-4034A>T) c.25A>T (p.Met9Leu) | |
8 | g.43178112T>A | CA371116972 | HGSNAT | c.890T>A (p.Met297Lys) c.131T>A (p.Met44Lys) c.821-4033T>A (n.821-4033T>A) c.26T>A (p.Met9Lys) | |
8 | g.43178112T>C | CA371116974 | HGSNAT | c.890T>C (p.Met297Thr) c.131T>C (p.Met44Thr) c.821-4033T>C (n.821-4033T>C) c.26T>C (p.Met9Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43178112T>G | CA371116975 | HGSNAT | c.890T>G (p.Met297Arg) c.131T>G (p.Met44Arg) c.821-4033T>G (n.821-4033T>G) c.26T>G (p.Met9Arg) | |
8 | g.43178112T= | CA1779771390 | HGSNAT | c.890T= (p.Met297=) c.131T= (p.Met44=) c.821-4033T= (n.821-4033T=) c.26T= (p.Met9=) | |
8 | g.43178113G>A | CA371116977 | HGSNAT | c.891G>A (p.Met297Ile) c.132G>A (p.Met44Ile) c.821-4032G>A (n.821-4032G>A) c.27G>A (p.Met9Ile) | |
8 | g.43178113G>C | CA371116978 | HGSNAT | c.891G>C (p.Met297Ile) c.132G>C (p.Met44Ile) c.821-4032G>C (n.821-4032G>C) c.27G>C (p.Met9Ile) | |
8 | g.43178113G>T | CA371116980 | HGSNAT | c.891G>T (p.Met297Ile) c.132G>T (p.Met44Ile) c.821-4032G>T (n.821-4032G>T) c.27G>T (p.Met9Ile) | gnomAD v4 |
8 | g.43178114A>C | CA371116981 | HGSNAT | c.892A>C (p.Thr298Pro) c.133A>C (p.Thr45Pro) c.821-4031A>C (n.821-4031A>C) c.28A>C (p.Thr10Pro) | |
8 | g.43178114A>G | CA371116983 | HGSNAT | c.892A>G (p.Thr298Ala) c.133A>G (p.Thr45Ala) c.821-4031A>G (n.821-4031A>G) c.28A>G (p.Thr10Ala) | |
8 | g.43178114A>T | CA371116985 | HGSNAT | c.892A>T (p.Thr298Ser) c.133A>T (p.Thr45Ser) c.821-4031A>T (n.821-4031A>T) c.28A>T (p.Thr10Ser) | gnomAD v4 |
8 | g.43178115C>A | CA371116988 | HGSNAT | c.893C>A (p.Thr298Asn) c.134C>A (p.Thr45Asn) c.821-4030C>A (n.821-4030C>A) c.29C>A (p.Thr10Asn) | |
8 | g.43178115C>G | CA371116990 | HGSNAT | c.893C>G (p.Thr298Ser) c.134C>G (p.Thr45Ser) c.821-4030C>G (n.821-4030C>G) c.29C>G (p.Thr10Ser) | |
8 | g.43178115C>T | CA371116986 | HGSNAT | c.893C>T (p.Thr298Ile) c.134C>T (p.Thr45Ile) c.821-4030C>T (n.821-4030C>T) c.29C>T (p.Thr10Ile) | |
8 | g.43178116T>A | CA460572861 | HGSNAT | c.894T>A (p.Thr298=) c.135T>A (p.Thr45=) c.821-4029T>A (n.821-4029T>A) c.30T>A (p.Thr10=) | |
8 | g.43178116T>C | CA460572864 | HGSNAT | c.894T>C (p.Thr298=) c.135T>C (p.Thr45=) c.821-4029T>C (n.821-4029T>C) c.30T>C (p.Thr10=) | |
8 | g.43178116T>G | CA460572873 | HGSNAT | c.894T>G (p.Thr298=) c.135T>G (p.Thr45=) c.821-4029T>G (n.821-4029T>G) c.30T>G (p.Thr10=) | |
8 | g.43178117T>A | CA371116992 | HGSNAT | c.895T>A (p.Ser299Thr) c.136T>A (p.Ser46Thr) c.821-4028T>A (n.821-4028T>A) c.31T>A (p.Ser11Thr) | |
8 | g.43178117T>C | CA371116993 | HGSNAT | c.895T>C (p.Ser299Pro) c.136T>C (p.Ser46Pro) c.821-4028T>C (n.821-4028T>C) c.31T>C (p.Ser11Pro) | |
8 | g.43178117T>G | CA371116995 | HGSNAT | c.895T>G (p.Ser299Ala) c.136T>G (p.Ser46Ala) c.821-4028T>G (n.821-4028T>G) c.31T>G (p.Ser11Ala) | |
8 | g.43178118C>A | CA371116997 | HGSNAT | c.896C>A (p.Ser299Tyr) c.137C>A (p.Ser46Tyr) c.821-4027C>A (n.821-4027C>A) c.32C>A (p.Ser11Tyr) | |
8 | g.43178118C>G | CA371116998 | HGSNAT | c.896C>G (p.Ser299Cys) c.137C>G (p.Ser46Cys) c.821-4027C>G (n.821-4027C>G) c.32C>G (p.Ser11Cys) | |
8 | g.43178118C>T | CA371117000 | HGSNAT | c.896C>T (p.Ser299Phe) c.137C>T (p.Ser46Phe) c.821-4027C>T (n.821-4027C>T) c.32C>T (p.Ser11Phe) | |
8 | g.43178119T>A | CA460572894 | HGSNAT | c.897T>A (p.Ser299=) c.138T>A (p.Ser46=) c.1T>A c.821-4026T>A (n.821-4026T>A) c.33T>A (p.Ser11=) | |
8 | g.43178119T>C | CA460572912 | HGSNAT | c.897T>C (p.Ser299=) c.138T>C (p.Ser46=) c.1T>C c.821-4026T>C (n.821-4026T>C) c.33T>C (p.Ser11=) | |
8 | g.43178119T>G | CA460572916 | HGSNAT | c.897T>G (p.Ser299=) c.138T>G (p.Ser46=) c.1T>G c.821-4026T>G (n.821-4026T>G) c.33T>G (p.Ser11=) | |
8 | g.43178120A= | CA1779771391 | HGSNAT | c.898A= (p.Ile300=) c.139A= (p.Ile47=) c.2A= c.821-4025A= (n.821-4025A=) c.34A= (p.Ile12=) | |
8 | g.43178120A>C | CA371117001 | HGSNAT | c.898A>C (p.Ile300Leu) c.139A>C (p.Ile47Leu) c.2A>C c.821-4025A>C (n.821-4025A>C) c.34A>C (p.Ile12Leu) | |
8 | g.43178120A>G | CA4736681 | HGSNAT | c.898A>G (p.Ile300Val) c.139A>G (p.Ile47Val) c.2A>G c.821-4025A>G (n.821-4025A>G) c.34A>G (p.Ile12Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43178120A>T | CA371117004 | HGSNAT | c.898A>T (p.Ile300Leu) c.139A>T (p.Ile47Leu) c.2A>T c.821-4025A>T (n.821-4025A>T) c.34A>T (p.Ile12Leu) | |
8 | g.43178121T>A | CA371117005 | HGSNAT | c.899T>A (p.Ile300Lys) c.140T>A (p.Ile47Lys) c.3T>A c.821-4024T>A (n.821-4024T>A) c.35T>A (p.Ile12Lys) | |
8 | g.43178121T>C | CA371117007 | HGSNAT | c.899T>C (p.Ile300Thr) c.140T>C (p.Ile47Thr) c.3T>C c.821-4024T>C (n.821-4024T>C) c.35T>C (p.Ile12Thr) | |
8 | g.43178121T>G | CA371117008 | HGSNAT | c.899T>G (p.Ile300Arg) c.140T>G (p.Ile47Arg) c.3T>G c.821-4024T>G (n.821-4024T>G) c.35T>G (p.Ile12Arg) | |
8 | g.43178122A>C | CA460572932 | HGSNAT | c.900A>C (p.Ile300=) c.141A>C (p.Ile47=) c.4A>C c.821-4023A>C (n.821-4023A>C) c.36A>C (p.Ile12=) | |
8 | g.43178122A>G | CA371117010 | HGSNAT | c.900A>G (p.Ile300Met) c.141A>G (p.Ile47Met) c.4A>G c.821-4023A>G (n.821-4023A>G) c.36A>G (p.Ile12Met) | ClinVar |
8 | g.43178122A>T | CA460572929 | HGSNAT | c.900A>T (p.Ile300=) c.141A>T (p.Ile47=) c.4A>T c.821-4023A>T (n.821-4023A>T) c.36A>T (p.Ile12=) | |
8 | g.43178123C>A | CA371117014 | HGSNAT | c.901C>A (p.Leu301Met) c.142C>A (p.Leu48Met) c.5C>A c.821-4022C>A (n.821-4022C>A) c.37C>A (p.Leu13Met) | |
8 | g.43178123C= | CA1779771392 | HGSNAT | c.901C= (p.Leu301=) c.142C= (p.Leu48=) c.5C= c.821-4022C= (n.821-4022C=) c.37C= (p.Leu13=) | |
8 | g.43178123C>G | CA371117012 | HGSNAT | c.901C>G (p.Leu301Val) c.142C>G (p.Leu48Val) c.5C>G c.821-4022C>G (n.821-4022C>G) c.37C>G (p.Leu13Val) | |
8 | g.43178123C>T | CA460572938 | HGSNAT | c.901C>T (p.Leu301=) c.142C>T (p.Leu48=) c.5C>T c.821-4022C>T (n.821-4022C>T) c.37C>T (p.Leu13=) | |
8 | g.43178123_43178124insCTG | CA581929196 | HGSNAT | c.901_902insCTG (p.Leu301delinsProVal) c.142_143insCTG (p.Leu48delinsProVal) c.5_6insCTG c.821-4022_821-4021insCTG (n.821-4022_821-4021insCTG) c.37_38insCTG (p.Leu13delinsProVal) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43178124T>A | CA371117015 | HGSNAT | c.902T>A (p.Leu301Gln) c.143T>A (p.Leu48Gln) c.6T>A c.821-4021T>A (n.821-4021T>A) c.38T>A (p.Leu13Gln) | |
8 | g.43178124T>C | CA371117017 | HGSNAT | c.902T>C (p.Leu301Pro) c.143T>C (p.Leu48Pro) c.6T>C c.821-4021T>C (n.821-4021T>C) c.38T>C (p.Leu13Pro) | |
8 | g.43178124T>G | CA371117019 | HGSNAT | c.902T>G (p.Leu301Arg) c.143T>G (p.Leu48Arg) c.6T>G c.821-4021T>G (n.821-4021T>G) c.38T>G (p.Leu13Arg) | dbSNP |
8 | g.43178124T= | CA1779771393 | HGSNAT | c.902T= (p.Leu301=) c.143T= (p.Leu48=) c.6T= c.821-4021T= (n.821-4021T=) c.38T= (p.Leu13=) | |
8 | g.43178125G>A | CA460572945 | HGSNAT | c.903G>A (p.Leu301=) c.144G>A (p.Leu48=) c.7G>A c.821-4020G>A (n.821-4020G>A) c.39G>A (p.Leu13=) | gnomAD v4 |
8 | g.43178125G>C | CA460572947 | HGSNAT | c.903G>C (p.Leu301=) c.144G>C (p.Leu48=) c.7G>C c.821-4020G>C (n.821-4020G>C) c.39G>C (p.Leu13=) | |
8 | g.43178125G= | CA1779771394 | HGSNAT | c.903G= (p.Leu301=) c.144G= (p.Leu48=) c.7G= c.821-4020G= (n.821-4020G=) c.39G= (p.Leu13=) | |
8 | g.43178125G>T | CA460572951 | HGSNAT | c.903G>T (p.Leu301=) c.144G>T (p.Leu48=) c.7G>T c.821-4020G>T (n.821-4020G>T) c.39G>T (p.Leu13=) | dbSNP |
8 | g.43178126C>A | CA371117020 | HGSNAT | c.904C>A (p.Gln302Lys) c.145C>A (p.Gln49Lys) c.8C>A c.821-4019C>A (n.821-4019C>A) c.40C>A (p.Gln14Lys) | gnomAD v4 |
8 | g.43178126C>G | CA371117022 | HGSNAT | c.904C>G (p.Gln302Glu) c.145C>G (p.Gln49Glu) c.8C>G c.821-4019C>G (n.821-4019C>G) c.40C>G (p.Gln14Glu) | |
8 | g.43178126C>T | CA371117023 | HGSNAT | c.904C>T (p.Gln302Ter) c.145C>T (p.Gln49Ter) c.8C>T c.821-4019C>T (n.821-4019C>T) c.40C>T (p.Gln14Ter) | gnomAD v4 |
8 | g.43178127A>C | CA371117025 | HGSNAT | c.905A>C (p.Gln302Pro) c.146A>C (p.Gln49Pro) c.9A>C c.821-4018A>C (n.821-4018A>C) c.41A>C (p.Gln14Pro) | |
8 | g.43178127A>G | CA371117027 | HGSNAT | c.905A>G (p.Gln302Arg) c.146A>G (p.Gln49Arg) c.9A>G c.821-4018A>G (n.821-4018A>G) c.41A>G (p.Gln14Arg) | |
8 | g.43178127A>T | CA371117028 | HGSNAT | c.905A>T (p.Gln302Leu) c.146A>T (p.Gln49Leu) c.9A>T c.821-4018A>T (n.821-4018A>T) c.41A>T (p.Gln14Leu) | |
8 | g.43178128A= | CA1779771395 | HGSNAT | c.906A= (p.Gln302=) c.147A= (p.Gln49=) c.10A= c.821-4017A= (n.821-4017A=) c.42A= (p.Gln14=) | |
8 | g.43178128A>C | CA371117030 | HGSNAT | c.906A>C (p.Gln302His) c.147A>C (p.Gln49His) c.10A>C c.821-4017A>C (n.821-4017A>C) c.42A>C (p.Gln14His) | |
8 | g.43178128A>G | CA460572969 | HGSNAT | c.906A>G (p.Gln302=) c.147A>G (p.Gln49=) c.10A>G c.821-4017A>G (n.821-4017A>G) c.42A>G (p.Gln14=) | gnomAD v4 |
8 | g.43178128A>T | CA10625514 | HGSNAT | c.906A>T (p.Gln302His) c.147A>T (p.Gln49His) c.10A>T c.821-4017A>T (n.821-4017A>T) c.42A>T (p.Gln14His) | ClinVar dbSNP |
8 | g.43178129C>A | CA460572976 | HGSNAT | c.907C>A (p.Arg303=) c.148C>A (p.Arg50=) c.11C>A c.821-4016C>A (n.821-4016C>A) c.43C>A (p.Arg15=) | |
8 | g.43178129C= | CA1779771396 | HGSNAT | c.907C= (p.Arg303=) c.148C= (p.Arg50=) c.11C= c.821-4016C= (n.821-4016C=) c.43C= (p.Arg15=) | |
8 | g.43178129C>G | CA371117032 | HGSNAT | c.907C>G (p.Arg303Gly) c.148C>G (p.Arg50Gly) c.11C>G c.821-4016C>G (n.821-4016C>G) c.43C>G (p.Arg15Gly) | |
8 | g.43178129C>T | CA4736682 | HGSNAT | c.907C>T (p.Arg303Trp) c.148C>T (p.Arg50Trp) c.11C>T c.821-4016C>T (n.821-4016C>T) c.43C>T (p.Arg15Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178130G>A | CA4736683 | HGSNAT | c.908G>A (p.Arg303Gln) c.149G>A (p.Arg50Gln) c.12G>A c.821-4015G>A (n.821-4015G>A) c.44G>A (p.Arg15Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178130G>C | CA371117035 | HGSNAT | c.908G>C (p.Arg303Pro) c.149G>C (p.Arg50Pro) c.12G>C c.821-4015G>C (n.821-4015G>C) c.44G>C (p.Arg15Pro) | dbSNP |
8 | g.43178130G= | CA1779771397 | HGSNAT | c.908G= (p.Arg303=) c.149G= (p.Arg50=) c.12G= c.821-4015G= (n.821-4015G=) c.44G= (p.Arg15=) | |
8 | g.43178130G>T | CA371117034 | HGSNAT | c.908G>T (p.Arg303Leu) c.149G>T (p.Arg50Leu) c.12G>T c.821-4015G>T (n.821-4015G>T) c.44G>T (p.Arg15Leu) | |
8 | g.43178131G>A | CA4736684 | HGSNAT | c.909G>A (p.Arg303=) c.150G>A (p.Arg50=) c.13G>A c.821-4014G>A (n.821-4014G>A) c.45G>A (p.Arg15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43178131G>C | CA460572989 | HGSNAT | c.909G>C (p.Arg303=) c.150G>C (p.Arg50=) c.13G>C c.821-4014G>C (n.821-4014G>C) c.45G>C (p.Arg15=) | |
8 | g.43178131G= | CA1779771398 | HGSNAT | c.909G= (p.Arg303=) c.150G= (p.Arg50=) c.13G= c.821-4014G= (n.821-4014G=) c.45G= (p.Arg15=) | |
8 | g.43178131G>T | CA460572993 | HGSNAT | c.909G>T (p.Arg303=) c.150G>T (p.Arg50=) c.13G>T c.821-4014G>T (n.821-4014G>T) c.45G>T (p.Arg15=) | |
8 | g.43178132G>A | CA371117039 | HGSNAT | c.910G>A (p.Gly304Arg) c.151G>A (p.Gly51Arg) c.14G>A c.821-4013G>A (n.821-4013G>A) c.46G>A (p.Gly16Arg) | dbSNP |
8 | g.43178132G>C | CA371117037 | HGSNAT | c.910G>C (p.Gly304Arg) c.151G>C (p.Gly51Arg) c.14G>C c.821-4013G>C (n.821-4013G>C) c.46G>C (p.Gly16Arg) | |
8 | g.43178132G= | CA1779771399 | HGSNAT | c.910G= (p.Gly304=) c.151G= (p.Gly51=) c.14G= c.821-4013G= (n.821-4013G=) c.46G= (p.Gly16=) | |
8 | g.43178132G>T | CA371117041 | HGSNAT | c.910G>T (p.Gly304Trp) c.151G>T (p.Gly51Trp) c.14G>T c.821-4013G>T (n.821-4013G>T) c.46G>T (p.Gly16Trp) | gnomAD v4 |
8 | g.43178133G>A | CA371117042 | HGSNAT | c.911G>A (p.Gly304Glu) c.152G>A (p.Gly51Glu) c.15G>A c.821-4012G>A (n.821-4012G>A) c.47G>A (p.Gly16Glu) | |
8 | g.43178133G>C | CA371117044 | HGSNAT | c.911G>C (p.Gly304Ala) c.152G>C (p.Gly51Ala) c.15G>C c.821-4012G>C (n.821-4012G>C) c.47G>C (p.Gly16Ala) | |
8 | g.43178133G>T | CA371117046 | HGSNAT | c.911G>T (p.Gly304Val) c.152G>T (p.Gly51Val) c.15G>T c.821-4012G>T (n.821-4012G>T) c.47G>T (p.Gly16Val) | |
8 | g.43178134G>A | CA4736685 | HGSNAT | c.912G>A (p.Gly304=) c.153G>A (p.Gly51=) c.16G>A c.821-4011G>A (n.821-4011G>A) c.48G>A (p.Gly16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43178134G>C | CA460573008 | HGSNAT | c.912G>C (p.Gly304=) c.153G>C (p.Gly51=) c.16G>C c.821-4011G>C (n.821-4011G>C) c.48G>C (p.Gly16=) | |
8 | g.43178134G= | CA1779771400 | HGSNAT | c.912G= (p.Gly304=) c.153G= (p.Gly51=) c.16G= c.821-4011G= (n.821-4011G=) c.48G= (p.Gly16=) | |
8 | g.43178134G>T | CA4736686 | HGSNAT | c.912G>T (p.Gly304=) c.153G>T (p.Gly51=) c.16G>T c.821-4011G>T (n.821-4011G>T) c.48G>T (p.Gly16=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43178135T>A | CA371117048 | HGSNAT | c.913T>A (p.Cys305Ser) c.154T>A (p.Cys52Ser) c.17T>A c.821-4010T>A (n.821-4010T>A) c.49T>A (p.Cys17Ser) | |
8 | g.43178135T>C | CA371117050 | HGSNAT | c.913T>C (p.Cys305Arg) c.154T>C (p.Cys52Arg) c.17T>C c.821-4010T>C (n.821-4010T>C) c.49T>C (p.Cys17Arg) | dbSNP gnomAD v2 |
8 | g.43178135T>G | CA371117052 | HGSNAT | c.913T>G (p.Cys305Gly) c.154T>G (p.Cys52Gly) c.17T>G c.821-4010T>G (n.821-4010T>G) c.49T>G (p.Cys17Gly) | |
8 | g.43178135T= | CA1779771401 | HGSNAT | c.913T= (p.Cys305=) c.154T= (p.Cys52=) c.17T= c.821-4010T= (n.821-4010T=) c.49T= (p.Cys17=) | |
8 | g.43178136G>A | CA371117054 | HGSNAT | c.914G>A (p.Cys305Tyr) c.155G>A (p.Cys52Tyr) c.18G>A c.821-4009G>A (n.821-4009G>A) c.50G>A (p.Cys17Tyr) | gnomAD v4 |
8 | g.43178136G>C | CA371117055 | HGSNAT | c.914G>C (p.Cys305Ser) c.155G>C (p.Cys52Ser) c.18G>C c.821-4009G>C (n.821-4009G>C) c.50G>C (p.Cys17Ser) | |
8 | g.43178136G>T | CA371117057 | HGSNAT | c.914G>T (p.Cys305Phe) c.155G>T (p.Cys52Phe) c.18G>T c.821-4009G>T (n.821-4009G>T) c.50G>T (p.Cys17Phe) | |
8 | g.43178137T>A | CA371117058 | HGSNAT | c.915T>A (p.Cys305Ter) c.156T>A (p.Cys52Ter) c.19T>A c.821-4008T>A (n.821-4008T>A) c.51T>A (p.Cys17Ter) | |
8 | g.43178137T>C | CA460573024 | HGSNAT | c.915T>C (p.Cys305=) c.156T>C (p.Cys52=) c.19T>C c.821-4008T>C (n.821-4008T>C) c.51T>C (p.Cys17=) | dbSNP gnomAD v4 |
8 | g.43178137T>G | CA371117059 | HGSNAT | c.915T>G (p.Cys305Trp) c.156T>G (p.Cys52Trp) c.19T>G c.821-4008T>G (n.821-4008T>G) c.51T>G (p.Cys17Trp) | |
8 | g.43178137T= | CA1779771402 | HGSNAT | c.915T= (p.Cys305=) c.156T= (p.Cys52=) c.19T= c.821-4008T= (n.821-4008T=) c.51T= (p.Cys17=) | |
8 | g.43178138T>A | CA371117065 | HGSNAT | c.916T>A (p.Ser306Thr) c.157T>A (p.Ser53Thr) c.20T>A c.821-4007T>A (n.821-4007T>A) c.52T>A (p.Ser18Thr) | |
8 | g.43178138T>C | CA371117061 | HGSNAT | c.916T>C (p.Ser306Pro) c.157T>C (p.Ser53Pro) c.20T>C c.821-4007T>C (n.821-4007T>C) c.52T>C (p.Ser18Pro) | |
8 | g.43178138T>G | CA371117063 | HGSNAT | c.916T>G (p.Ser306Ala) c.157T>G (p.Ser53Ala) c.20T>G c.821-4007T>G (n.821-4007T>G) c.52T>G (p.Ser18Ala) | |
8 | g.43178139C>A | CA371117067 | HGSNAT | c.917C>A (p.Ser306Ter) c.158C>A (p.Ser53Ter) c.21C>A c.821-4006C>A (n.821-4006C>A) c.53C>A (p.Ser18Ter) | gnomAD v4 |
8 | g.43178139C= | CA1779771403 | HGSNAT | c.917C= (p.Ser306=) c.158C= (p.Ser53=) c.21C= c.821-4006C= (n.821-4006C=) c.53C= (p.Ser18=) | |
8 | g.43178139C>G | CA371117069 | HGSNAT | c.917C>G (p.Ser306Ter) c.158C>G (p.Ser53Ter) c.21C>G c.821-4006C>G (n.821-4006C>G) c.53C>G (p.Ser18Ter) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43178139C>T | CA371117070 | HGSNAT | c.917C>T (p.Ser306Leu) c.158C>T (p.Ser53Leu) c.21C>T c.821-4006C>T (n.821-4006C>T) c.53C>T (p.Ser18Leu) | |
8 | g.43178140A= | CA1779771404 | HGSNAT | c.918A= (p.Ser306=) c.159A= (p.Ser53=) c.22A= c.821-4005A= (n.821-4005A=) c.54A= (p.Ser18=) | |
8 | g.43178140A>C | CA460573042 | HGSNAT | c.918A>C (p.Ser306=) c.159A>C (p.Ser53=) c.22A>C c.821-4005A>C (n.821-4005A>C) c.54A>C (p.Ser18=) | |
8 | g.43178140A>G | CA460573044 | HGSNAT | c.918A>G (p.Ser306=) c.159A>G (p.Ser53=) c.22A>G c.821-4005A>G (n.821-4005A>G) c.54A>G (p.Ser18=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.43178140A>T | CA460573048 | HGSNAT | c.918A>T (p.Ser306=) c.159A>T (p.Ser53=) c.22A>T c.821-4005A>T (n.821-4005A>T) c.54A>T (p.Ser18=) | |
8 | g.43178141A= | CA1779771405 | HGSNAT | c.919A= (p.Lys307=) c.160A= (p.Lys54=) c.23A= c.821-4004A= (n.821-4004A=) c.55A= (p.Lys19=) | |
8 | g.43178141A>C | CA371117072 | HGSNAT | c.919A>C (p.Lys307Gln) c.160A>C (p.Lys54Gln) c.23A>C c.821-4004A>C (n.821-4004A>C) c.55A>C (p.Lys19Gln) | |
8 | g.43178141A>G | CA371117074 | HGSNAT | c.919A>G (p.Lys307Glu) c.160A>G (p.Lys54Glu) c.23A>G c.821-4004A>G (n.821-4004A>G) c.55A>G (p.Lys19Glu) | dbSNP gnomAD v4 |
8 | g.43178141A>T | CA371117075 | HGSNAT | c.919A>T (p.Lys307Ter) c.160A>T (p.Lys54Ter) c.23A>T c.821-4004A>T (n.821-4004A>T) c.55A>T (p.Lys19Ter) | |
8 | g.43178142A>C | CA371117078 | HGSNAT | c.920A>C (p.Lys307Thr) c.161A>C (p.Lys54Thr) c.24A>C c.821-4003A>C (n.821-4003A>C) c.56A>C (p.Lys19Thr) | |
8 | g.43178142A>G | CA371117079 | HGSNAT | c.920A>G (p.Lys307Arg) c.161A>G (p.Lys54Arg) c.24A>G c.821-4003A>G (n.821-4003A>G) c.56A>G (p.Lys19Arg) | |
8 | g.43178142A>T | CA371117081 | HGSNAT | c.920A>T (p.Lys307Ile) c.161A>T (p.Lys54Ile) c.24A>T c.821-4003A>T (n.821-4003A>T) c.56A>T (p.Lys19Ile) | |
8 | g.43178143A>C | CA371117083 | HGSNAT | c.921A>C (p.Lys307Asn) c.162A>C (p.Lys54Asn) c.25A>C c.821-4002A>C (n.821-4002A>C) c.57A>C (p.Lys19Asn) | |
8 | g.43178143A>G | CA460573061 | HGSNAT | c.921A>G (p.Lys307=) c.162A>G (p.Lys54=) c.25A>G c.821-4002A>G (n.821-4002A>G) c.57A>G (p.Lys19=) | |
8 | g.43178143A>T | CA371117084 | HGSNAT | c.921A>T (p.Lys307Asn) c.162A>T (p.Lys54Asn) c.25A>T c.821-4002A>T (n.821-4002A>T) c.57A>T (p.Lys19Asn) | |
8 | g.43178146_43178151del | CA2687154553 | HGSNAT | c.924_929del (p.Phe308_Arg309del) c.165_170del (p.Phe55_Arg56del) c.28_33del c.821-3999_821-3994del (n.821-3999_821-3994del) c.60_65del (p.Phe20_Arg21del) | gnomAD v4 |
8 | g.43178144T>A | CA371117089 | HGSNAT | c.922T>A (p.Phe308Ile) c.163T>A (p.Phe55Ile) c.26T>A c.821-4001T>A (n.821-4001T>A) c.58T>A (p.Phe20Ile) | |
8 | g.43178144T>C | CA371117087 | HGSNAT | c.922T>C (p.Phe308Leu) c.163T>C (p.Phe55Leu) c.26T>C c.821-4001T>C (n.821-4001T>C) c.58T>C (p.Phe20Leu) | gnomAD v4 |
8 | g.43178144T>G | CA371117086 | HGSNAT | c.922T>G (p.Phe308Val) c.163T>G (p.Phe55Val) c.26T>G c.821-4001T>G (n.821-4001T>G) c.58T>G (p.Phe20Val) | |
8 | g.43178145T>A | CA4736687 | HGSNAT | c.923T>A (p.Phe308Tyr) c.164T>A (p.Phe55Tyr) c.27T>A c.821-4000T>A (n.821-4000T>A) c.59T>A (p.Phe20Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43178145T>C | CA371117091 | HGSNAT | c.923T>C (p.Phe308Ser) c.164T>C (p.Phe55Ser) c.27T>C c.821-4000T>C (n.821-4000T>C) c.59T>C (p.Phe20Ser) | |
8 | g.43178145T>G | CA371117092 | HGSNAT | c.923T>G (p.Phe308Cys) c.164T>G (p.Phe55Cys) c.27T>G c.821-4000T>G (n.821-4000T>G) c.59T>G (p.Phe20Cys) | |
8 | g.43178145T= | CA1779771406 | HGSNAT | c.923T= (p.Phe308=) c.164T= (p.Phe55=) c.27T= c.821-4000T= (n.821-4000T=) c.59T= (p.Phe20=) | |
8 | g.43178146C>A | CA371117094 | HGSNAT | c.924C>A (p.Phe308Leu) c.165C>A (p.Phe55Leu) c.28C>A c.821-3999C>A (n.821-3999C>A) c.60C>A (p.Phe20Leu) | |
8 | g.43178146C>G | CA371117096 | HGSNAT | c.924C>G (p.Phe308Leu) c.165C>G (p.Phe55Leu) c.28C>G c.821-3999C>G (n.821-3999C>G) c.60C>G (p.Phe20Leu) | |
8 | g.43178146C>T | CA460573076 | HGSNAT | c.924C>T (p.Phe308=) c.165C>T (p.Phe55=) c.28C>T c.821-3999C>T (n.821-3999C>T) c.60C>T (p.Phe20=) | |
8 | g.43178147A= | CA1779771407 | HGSNAT | c.925A= (p.Arg309=) c.166A= (p.Arg56=) c.29A= c.821-3998A= (n.821-3998A=) c.61A= (p.Arg21=) | |
8 | g.43178147A>C | CA460573079 | HGSNAT | c.925A>C (p.Arg309=) c.166A>C (p.Arg56=) c.29A>C c.821-3998A>C (n.821-3998A>C) c.61A>C (p.Arg21=) | |
8 | g.43178147A>G | CA371117098 | HGSNAT | c.925A>G (p.Arg309Gly) c.166A>G (p.Arg56Gly) c.29A>G c.821-3998A>G (n.821-3998A>G) c.61A>G (p.Arg21Gly) | |
8 | g.43178147A>T | CA371117099 | HGSNAT | c.925A>T (p.Arg309Ter) c.166A>T (p.Arg56Ter) c.29A>T c.821-3998A>T (n.821-3998A>T) c.61A>T (p.Arg21Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.43178148G>A | CA371117101 | HGSNAT | c.926G>A (p.Arg309Lys) c.167G>A (p.Arg56Lys) c.30G>A c.821-3997G>A (n.821-3997G>A) c.62G>A (p.Arg21Lys) | |
8 | g.43178148G>C | CA371117105 | HGSNAT | c.926G>C (p.Arg309Thr) c.167G>C (p.Arg56Thr) c.30G>C c.821-3997G>C (n.821-3997G>C) c.62G>C (p.Arg21Thr) | gnomAD v4 |
8 | g.43178148G>T | CA371117103 | HGSNAT | c.926G>T (p.Arg309Ile) c.167G>T (p.Arg56Ile) c.30G>T c.821-3997G>T (n.821-3997G>T) c.62G>T (p.Arg21Ile) | |
8 | g.43178149A>C | CA371117107 | HGSNAT | c.927A>C (p.Arg309Ser) c.168A>C (p.Arg56Ser) c.31A>C c.821-3996A>C (n.821-3996A>C) c.63A>C (p.Arg21Ser) | |
8 | g.43178149A>G | CA460573092 | HGSNAT | c.927A>G (p.Arg309=) c.168A>G (p.Arg56=) c.31A>G c.821-3996A>G (n.821-3996A>G) c.63A>G (p.Arg21=) | |
8 | g.43178149A>T | CA371117108 | HGSNAT | c.927A>T (p.Arg309Ser) c.168A>T (p.Arg56Ser) c.31A>T c.821-3996A>T (n.821-3996A>T) c.63A>T (p.Arg21Ser) | |
8 | g.43178150T>A | CA371117110 | HGSNAT | c.928T>A (p.Leu310Met) c.169T>A (p.Leu57Met) c.32T>A c.821-3995T>A (n.821-3995T>A) c.64T>A (p.Leu22Met) | |
8 | g.43178150T>C | CA460573097 | HGSNAT | c.928T>C (p.Leu310=) c.169T>C (p.Leu57=) c.32T>C c.821-3995T>C (n.821-3995T>C) c.64T>C (p.Leu22=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178150T>G | CA371117113 | HGSNAT | c.928T>G (p.Leu310Val) c.169T>G (p.Leu57Val) c.32T>G c.821-3995T>G (n.821-3995T>G) c.64T>G (p.Leu22Val) | |
8 | g.43178150T= | CA1779771408 | HGSNAT | c.928T= (p.Leu310=) c.169T= (p.Leu57=) c.32T= c.821-3995T= (n.821-3995T=) c.64T= (p.Leu22=) | |
8 | g.43178151T>A | CA371117114 | HGSNAT | c.929T>A (p.Leu310Ter) c.170T>A (p.Leu57Ter) c.33T>A c.821-3994T>A (n.821-3994T>A) c.65T>A (p.Leu22Ter) | |
8 | g.43178151T>C | CA371117119 | HGSNAT | c.929T>C (p.Leu310Ser) c.170T>C (p.Leu57Ser) c.33T>C c.821-3994T>C (n.821-3994T>C) c.65T>C (p.Leu22Ser) | dbSNP |
8 | g.43178151T>G | CA371117117 | HGSNAT | c.929T>G (p.Leu310Trp) c.170T>G (p.Leu57Trp) c.33T>G c.821-3994T>G (n.821-3994T>G) c.65T>G (p.Leu22Trp) | |
8 | g.43178151T= | CA1779771409 | HGSNAT | c.929T= (p.Leu310=) c.170T= (p.Leu57=) c.33T= c.821-3994T= (n.821-3994T=) c.65T= (p.Leu22=) | |
8 | g.43178152G>A | CA460573110 | HGSNAT | c.930G>A (p.Leu310=) c.171G>A (p.Leu57=) c.34G>A c.821-3993G>A (n.821-3993G>A) c.66G>A (p.Leu22=) | |
8 | g.43178152G>C | CA371117121 | HGSNAT | c.930G>C (p.Leu310Phe) c.171G>C (p.Leu57Phe) c.34G>C c.821-3993G>C (n.821-3993G>C) c.66G>C (p.Leu22Phe) | |
8 | g.43178152G>T | CA371117122 | HGSNAT | c.930G>T (p.Leu310Phe) c.171G>T (p.Leu57Phe) c.34G>T c.821-3993G>T (n.821-3993G>T) c.66G>T (p.Leu22Phe) | |
8 | g.43178153C>A | CA371117125 | HGSNAT | c.931C>A (p.Leu311Met) c.172C>A (p.Leu58Met) c.35C>A c.821-3992C>A (n.821-3992C>A) c.67C>A (p.Leu23Met) | |
8 | g.43178153C>G | CA371117127 | HGSNAT | c.931C>G (p.Leu311Val) c.172C>G (p.Leu58Val) c.35C>G c.821-3992C>G (n.821-3992C>G) c.67C>G (p.Leu23Val) | |
8 | g.43178153C>T | CA460573115 | HGSNAT | c.931C>T (p.Leu311=) c.172C>T (p.Leu58=) c.35C>T c.821-3992C>T (n.821-3992C>T) c.67C>T (p.Leu23=) | |
8 | g.43178154del | CA2580078322 | HGSNAT | c.932del (p.Leu311ArgfsTer11) c.173del (p.Leu58ArgfsTer11) c.36del c.821-3991del (n.821-3991del) c.68del (p.Leu23ArgfsTer11) | ClinVar |
8 | g.43178154T>A | CA371117130 | HGSNAT | c.932T>A (p.Leu311Gln) c.173T>A (p.Leu58Gln) c.36T>A c.821-3991T>A (n.821-3991T>A) c.68T>A (p.Leu23Gln) | |
8 | g.43178154T>C | CA371117132 | HGSNAT | c.932T>C (p.Leu311Pro) c.173T>C (p.Leu58Pro) c.36T>C c.821-3991T>C (n.821-3991T>C) c.68T>C (p.Leu23Pro) | |
8 | g.43178154T>G | CA371117134 | HGSNAT | c.932T>G (p.Leu311Arg) c.173T>G (p.Leu58Arg) c.36T>G c.821-3991T>G (n.821-3991T>G) c.68T>G (p.Leu23Arg) | |
8 | g.43178155G>A | CA460573123 | HGSNAT | c.933G>A (p.Leu311=) c.174G>A (p.Leu58=) c.37G>A c.821-3990G>A (n.821-3990G>A) c.69G>A (p.Leu23=) | gnomAD v4 |
8 | g.43178155G>C | CA460573126 | HGSNAT | c.933G>C (p.Leu311=) c.174G>C (p.Leu58=) c.37G>C c.821-3990G>C (n.821-3990G>C) c.69G>C (p.Leu23=) | |
8 | g.43178155G= | CA1779771410 | HGSNAT | c.933G= (p.Leu311=) c.174G= (p.Leu58=) c.37G= c.821-3990G= (n.821-3990G=) c.69G= (p.Leu23=) | |
8 | g.43178155G>T | CA460573128 | HGSNAT | c.933G>T (p.Leu311=) c.174G>T (p.Leu58=) c.37G>T c.821-3990G>T (n.821-3990G>T) c.69G>T (p.Leu23=) | ClinVar dbSNP gnomAD v4 |
8 | g.43178156G>A | CA371117137 | HGSNAT | c.934G>A (p.Gly312Arg) c.175G>A (p.Gly59Arg) c.38G>A c.821-3989G>A (n.821-3989G>A) c.70G>A (p.Gly24Arg) | |
8 | g.43178156G>C | CA371117139 | HGSNAT | c.934G>C (p.Gly312Arg) c.175G>C (p.Gly59Arg) c.38G>C c.821-3989G>C (n.821-3989G>C) c.70G>C (p.Gly24Arg) | |
8 | g.43178156G>T | CA371117141 | HGSNAT | c.934G>T (p.Gly312Trp) c.175G>T (p.Gly59Trp) c.38G>T c.821-3989G>T (n.821-3989G>T) c.70G>T (p.Gly24Trp) | |
8 | g.43178157G>A | CA371117148 | HGSNAT | c.935G>A (p.Gly312Glu) c.176G>A (p.Gly59Glu) c.39G>A c.821-3988G>A (n.821-3988G>A) c.71G>A (p.Gly24Glu) | |
8 | g.43178157G>C | CA371117147 | HGSNAT | c.935G>C (p.Gly312Ala) c.176G>C (p.Gly59Ala) c.39G>C c.821-3988G>C (n.821-3988G>C) c.71G>C (p.Gly24Ala) | |
8 | g.43178157G>T | CA371117144 | HGSNAT | c.935G>T (p.Gly312Val) c.176G>T (p.Gly59Val) c.39G>T c.821-3988G>T (n.821-3988G>T) c.71G>T (p.Gly24Val) | |
8 | g.43178158G>A | CA460573146 | HGSNAT | c.936G>A (p.Gly312=) c.177G>A (p.Gly59=) c.40G>A c.821-3987G>A (n.821-3987G>A) c.72G>A (p.Gly24=) | |
8 | g.43178158G>C | CA460573147 | HGSNAT | c.936G>C (p.Gly312=) c.177G>C (p.Gly59=) c.40G>C c.821-3987G>C (n.821-3987G>C) c.72G>C (p.Gly24=) | |
8 | g.43178158G= | CA1779771411 | HGSNAT | c.936G= (p.Gly312=) c.177G= (p.Gly59=) c.40G= c.821-3987G= (n.821-3987G=) c.72G= (p.Gly24=) | |
8 | g.43178158G>T | CA460573150 | HGSNAT | c.936G>T (p.Gly312=) c.177G>T (p.Gly59=) c.40G>T c.821-3987G>T (n.821-3987G>T) c.72G>T (p.Gly24=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.43178159A>C | CA371117151 | HGSNAT | c.937A>C (p.Lys313Gln) c.178A>C (p.Lys60Gln) c.41A>C c.821-3986A>C (n.821-3986A>C) c.73A>C (p.Lys25Gln) | |
8 | g.43178159A>G | CA371117155 | HGSNAT | c.937A>G (p.Lys313Glu) c.178A>G (p.Lys60Glu) c.41A>G c.821-3986A>G (n.821-3986A>G) c.73A>G (p.Lys25Glu) | |
8 | g.43178159A>T | CA371117153 | HGSNAT | c.937A>T (p.Lys313Ter) c.178A>T (p.Lys60Ter) c.41A>T c.821-3986A>T (n.821-3986A>T) c.73A>T (p.Lys25Ter) | |
8 | g.43178160A>C | CA371117157 | HGSNAT | c.938A>C (p.Lys313Thr) c.179A>C (p.Lys60Thr) c.42A>C c.821-3985A>C (n.821-3985A>C) c.74A>C (p.Lys25Thr) | |
8 | g.43178160A>G | CA371117159 | HGSNAT | c.938A>G (p.Lys313Arg) c.179A>G (p.Lys60Arg) c.42A>G c.821-3985A>G (n.821-3985A>G) c.74A>G (p.Lys25Arg) | gnomAD v4 COSMIC |
8 | g.43178160A>T | CA371117160 | HGSNAT | c.938A>T (p.Lys313Met) c.179A>T (p.Lys60Met) c.42A>T c.821-3985A>T (n.821-3985A>T) c.74A>T (p.Lys25Met) | |
8 | g.43178161G>A | CA460573165 | HGSNAT | c.939G>A (p.Lys313=) c.180G>A (p.Lys60=) c.43G>A c.821-3984G>A (n.821-3984G>A) c.75G>A (p.Lys25=) | |
8 | g.43178161G>C | CA371117164 | HGSNAT | c.939G>C (p.Lys313Asn) c.180G>C (p.Lys60Asn) c.43G>C c.821-3984G>C (n.821-3984G>C) c.75G>C (p.Lys25Asn) | |
8 | g.43178161G>T | CA371117165 | HGSNAT | c.939G>T (p.Lys313Asn) c.180G>T (p.Lys60Asn) c.43G>T c.821-3984G>T (n.821-3984G>T) c.75G>T (p.Lys25Asn) | |
8 | g.43178162A= | CA1779771412 | HGSNAT | c.940A= (p.Ile314=) c.181A= (p.Ile61=) c.44A= c.821-3983A= (n.821-3983A=) c.76A= (p.Ile26=) | |
8 | g.43178162A>C | CA371117167 | HGSNAT | c.940A>C (p.Ile314Leu) c.181A>C (p.Ile61Leu) c.44A>C c.821-3983A>C (n.821-3983A>C) c.76A>C (p.Ile26Leu) | |
8 | g.43178162A>G | CA371117168 | HGSNAT | c.940A>G (p.Ile314Val) c.181A>G (p.Ile61Val) c.44A>G c.821-3983A>G (n.821-3983A>G) c.76A>G (p.Ile26Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178162A>T | CA371117171 | HGSNAT | c.940A>T (p.Ile314Phe) c.181A>T (p.Ile61Phe) c.44A>T c.821-3983A>T (n.821-3983A>T) c.76A>T (p.Ile26Phe) | |
8 | g.43178163T>A | CA371117174 | HGSNAT | c.941T>A (p.Ile314Asn) c.182T>A (p.Ile61Asn) c.45T>A c.821-3982T>A (n.821-3982T>A) c.77T>A (p.Ile26Asn) | |
8 | g.43178163T>C | CA371117177 | HGSNAT | c.941T>C (p.Ile314Thr) c.182T>C (p.Ile61Thr) c.45T>C c.821-3982T>C (n.821-3982T>C) c.77T>C (p.Ile26Thr) | gnomAD v4 |
8 | g.43178163T>G | CA371117179 | HGSNAT | c.941T>G (p.Ile314Ser) c.182T>G (p.Ile61Ser) c.45T>G c.821-3982T>G (n.821-3982T>G) c.77T>G (p.Ile26Ser) | |
8 | g.43178163_43178164insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG | CA2550981713 | HGSNAT | c.941_942insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG (p.Ala315ProfsTer2) c.182_183insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG (p.Ala62ProfsTer2) c.45_46insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG c.821-3982_821-3981insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG (n.821-3982_821-3981insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG) c.77_78insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG (p.Ala27ProfsTer2) | |
8 | g.43178164T>A | CA460573189 | HGSNAT | c.942T>A (p.Ile314=) c.183T>A (p.Ile61=) c.46T>A c.821-3981T>A (n.821-3981T>A) c.78T>A (p.Ile26=) | |
8 | g.43178164T>C | CA460573185 | HGSNAT | c.942T>C (p.Ile314=) c.183T>C (p.Ile61=) c.46T>C c.821-3981T>C (n.821-3981T>C) c.78T>C (p.Ile26=) | |
8 | g.43178164T>G | CA371117181 | HGSNAT | c.942T>G (p.Ile314Met) c.183T>G (p.Ile61Met) c.46T>G c.821-3981T>G (n.821-3981T>G) c.78T>G (p.Ile26Met) | |
8 | g.43178165G>A | CA371117184 | HGSNAT | c.943G>A (p.Ala315Thr) c.184G>A (p.Ala62Thr) c.47G>A c.821-3980G>A (n.821-3980G>A) c.79G>A (p.Ala27Thr) | |
8 | g.43178165G>C | CA371117188 | HGSNAT | c.943G>C (p.Ala315Pro) c.184G>C (p.Ala62Pro) c.47G>C c.821-3980G>C (n.821-3980G>C) c.79G>C (p.Ala27Pro) | |
8 | g.43178165G>T | CA371117186 | HGSNAT | c.943G>T (p.Ala315Ser) c.184G>T (p.Ala62Ser) c.47G>T c.821-3980G>T (n.821-3980G>T) c.79G>T (p.Ala27Ser) | gnomAD v4 |
8 | g.43178166C>A | CA371117190 | HGSNAT | c.944C>A (p.Ala315Glu) c.185C>A (p.Ala62Glu) c.48C>A c.821-3979C>A (n.821-3979C>A) c.80C>A (p.Ala27Glu) | |
8 | g.43178166C>G | CA371117193 | HGSNAT | c.944C>G (p.Ala315Gly) c.185C>G (p.Ala62Gly) c.48C>G c.821-3979C>G (n.821-3979C>G) c.80C>G (p.Ala27Gly) | |
8 | g.43178166C>T | CA371117196 | HGSNAT | c.944C>T (p.Ala315Val) c.185C>T (p.Ala62Val) c.48C>T c.821-3979C>T (n.821-3979C>T) c.80C>T (p.Ala27Val) | |
8 | g.43178167A= | CA1779771413 | HGSNAT | c.945A= (p.Ala315=) c.186A= (p.Ala62=) c.49A= c.821-3978A= (n.821-3978A=) c.81A= (p.Ala27=) | |
8 | g.43178167A>C | CA460573204 | HGSNAT | c.945A>C (p.Ala315=) c.186A>C (p.Ala62=) c.49A>C c.821-3978A>C (n.821-3978A>C) c.81A>C (p.Ala27=) | |
8 | g.43178167A>G | CA4736688 | HGSNAT | c.945A>G (p.Ala315=) c.186A>G (p.Ala62=) c.49A>G c.821-3978A>G (n.821-3978A>G) c.81A>G (p.Ala27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178167A>T | CA460573209 | HGSNAT | c.945A>T (p.Ala315=) c.186A>T (p.Ala62=) c.49A>T c.821-3978A>T (n.821-3978A>T) c.81A>T (p.Ala27=) | ClinVar |
8 | g.43178167_43178168delinsTC | CA2580078324 | HGSNAT | c.945_946delinsTC (p.Trp316Arg) c.186_187delinsTC (p.Trp63Arg) c.49_50delinsTC c.821-3978_821-3977delinsTC (n.821-3978_821-3977delinsTC) c.81_82delinsTC (p.Trp28Arg) | ClinVar |
8 | g.43178168T>A | CA4736689 | HGSNAT | c.946T>A (p.Trp316Arg) c.187T>A (p.Trp63Arg) c.50T>A c.821-3977T>A (n.821-3977T>A) c.82T>A (p.Trp28Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43178168T>C | CA371117201 | HGSNAT | c.946T>C (p.Trp316Arg) c.187T>C (p.Trp63Arg) c.50T>C c.821-3977T>C (n.821-3977T>C) c.82T>C (p.Trp28Arg) | COSMIC |
8 | g.43178168T>G | CA371117203 | HGSNAT | c.946T>G (p.Trp316Gly) c.187T>G (p.Trp63Gly) c.50T>G c.821-3977T>G (n.821-3977T>G) c.82T>G (p.Trp28Gly) | |
8 | g.43178168T= | CA1779771414 | HGSNAT | c.946T= (p.Trp316=) c.187T= (p.Trp63=) c.50T= c.821-3977T= (n.821-3977T=) c.82T= (p.Trp28=) | |
8 | g.43178169G>A | CA371117205 | HGSNAT | c.947G>A (p.Trp316Ter) c.188G>A (p.Trp63Ter) c.51G>A c.821-3976G>A (n.821-3976G>A) c.83G>A (p.Trp28Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.43178169G>C | CA371117208 | HGSNAT | c.947G>C (p.Trp316Ser) c.188G>C (p.Trp63Ser) c.51G>C c.821-3976G>C (n.821-3976G>C) c.83G>C (p.Trp28Ser) | |
8 | g.43178169G= | CA1779771415 | HGSNAT | c.947G= (p.Trp316=) c.188G= (p.Trp63=) c.51G= c.821-3976G= (n.821-3976G=) c.83G= (p.Trp28=) | |
8 | g.43178169G>T | CA371117209 | HGSNAT | c.947G>T (p.Trp316Leu) c.188G>T (p.Trp63Leu) c.51G>T c.821-3976G>T (n.821-3976G>T) c.83G>T (p.Trp28Leu) | |
8 | g.43178170G>A | CA371117214 | HGSNAT | c.948G>A (p.Trp316Ter) c.189G>A (p.Trp63Ter) c.52G>A c.821-3975G>A (n.821-3975G>A) c.84G>A (p.Trp28Ter) | |
8 | g.43178170G>C | CA371117226 | HGSNAT | c.948G>C (p.Trp316Cys) c.189G>C (p.Trp63Cys) c.52G>C c.821-3975G>C (n.821-3975G>C) c.84G>C (p.Trp28Cys) | |
8 | g.43178170G>T | CA371117211 | HGSNAT | c.948G>T (p.Trp316Cys) c.189G>T (p.Trp63Cys) c.52G>T c.821-3975G>T (n.821-3975G>T) c.84G>T (p.Trp28Cys) | |
8 | g.43178171A>C | CA460573230 | HGSNAT | c.949A>C (p.Arg317=) c.190A>C (p.Arg64=) c.53A>C c.821-3974A>C (n.821-3974A>C) c.85A>C (p.Arg29=) | |
8 | g.43178171A>G | CA371117227 | HGSNAT | c.949A>G (p.Arg317Gly) c.190A>G (p.Arg64Gly) c.53A>G c.821-3974A>G (n.821-3974A>G) c.85A>G (p.Arg29Gly) | |
8 | g.43178171A>T | CA371117229 | HGSNAT | c.949A>T (p.Arg317Trp) c.190A>T (p.Arg64Trp) c.53A>T c.821-3974A>T (n.821-3974A>T) c.85A>T (p.Arg29Trp) | |
8 | g.43178172G>A | CA371117231 | HGSNAT | c.950G>A (p.Arg317Lys) c.191G>A (p.Arg64Lys) c.54G>A c.821-3973G>A (n.821-3973G>A) c.86G>A (p.Arg29Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43178172G>C | CA371117234 | HGSNAT | c.950G>C (p.Arg317Thr) c.191G>C (p.Arg64Thr) c.54G>C c.821-3973G>C (n.821-3973G>C) c.86G>C (p.Arg29Thr) | |
8 | g.43178172G= | CA1779771416 | HGSNAT | c.950G= (p.Arg317=) c.191G= (p.Arg64=) c.54G= c.821-3973G= (n.821-3973G=) c.86G= (p.Arg29=) | |
8 | g.43178172G>T | CA371117236 | HGSNAT | c.950G>T (p.Arg317Met) c.191G>T (p.Arg64Met) c.54G>T c.821-3973G>T (n.821-3973G>T) c.86G>T (p.Arg29Met) | |
8 | g.43178173G>A | CA460573242 | HGSNAT | c.951G>A (p.Arg317=) c.192G>A (p.Arg64=) c.55G>A c.821-3972G>A (n.821-3972G>A) c.87G>A (p.Arg29=) | ClinVar dbSNP |
8 | g.43178173G>C | CA371117238 | HGSNAT | c.951G>C (p.Arg317Ser) c.192G>C (p.Arg64Ser) c.55G>C c.821-3972G>C (n.821-3972G>C) c.87G>C (p.Arg29Ser) | ClinVar dbSNP |
8 | g.43178173G>T | CA371117240 | HGSNAT | c.951G>T (p.Arg317Ser) c.192G>T (p.Arg64Ser) c.55G>T c.821-3972G>T (n.821-3972G>T) c.87G>T (p.Arg29Ser) | |
8 | g.43178174A>C | CA371117242 | HGSNAT | c.952A>C (p.Ser318Arg) c.193A>C (p.Ser65Arg) c.56A>C c.821-3971A>C (n.821-3971A>C) c.88A>C (p.Ser30Arg) | ClinVar |
8 | g.43178174A>G | CA371117245 | HGSNAT | c.952A>G (p.Ser318Gly) c.193A>G (p.Ser65Gly) c.56A>G c.821-3971A>G (n.821-3971A>G) c.88A>G (p.Ser30Gly) | gnomAD v4 |
8 | g.43178174A>T | CA371117246 | HGSNAT | c.952A>T (p.Ser318Cys) c.193A>T (p.Ser65Cys) c.56A>T c.821-3971A>T (n.821-3971A>T) c.88A>T (p.Ser30Cys) | |
8 | g.43178175G>A | CA176068210 | HGSNAT | c.953G>A (p.Ser318Asn) c.194G>A (p.Ser65Asn) c.57G>A c.821-3970G>A (n.821-3970G>A) c.89G>A (p.Ser30Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.43178175G>C | CA371117249 | HGSNAT | c.953G>C (p.Ser318Thr) c.194G>C (p.Ser65Thr) c.57G>C c.821-3970G>C (n.821-3970G>C) c.89G>C (p.Ser30Thr) | |
8 | g.43178175G= | CA1779771417 | HGSNAT | c.953G= (p.Ser318=) c.194G= (p.Ser65=) c.57G= c.821-3970G= (n.821-3970G=) c.89G= (p.Ser30=) | |
8 | g.43178175G>T | CA371117250 | HGSNAT | c.953G>T (p.Ser318Ile) c.194G>T (p.Ser65Ile) c.57G>T c.821-3970G>T (n.821-3970G>T) c.89G>T (p.Ser30Ile) | COSMIC |
8 | g.43178176T>A | CA371117256 | HGSNAT | c.954T>A (p.Ser318Arg) c.195T>A (p.Ser65Arg) c.58T>A c.821-3969T>A (n.821-3969T>A) c.90T>A (p.Ser30Arg) | |
8 | g.43178176T>C | CA460573264 | HGSNAT | c.954T>C (p.Ser318=) c.195T>C (p.Ser65=) c.58T>C c.821-3969T>C (n.821-3969T>C) c.90T>C (p.Ser30=) | |
8 | g.43178176T>G | CA371117253 | HGSNAT | c.954T>G (p.Ser318Arg) c.195T>G (p.Ser65Arg) c.58T>G c.821-3969T>G (n.821-3969T>G) c.90T>G (p.Ser30Arg) | |
8 | g.43178177T>A | CA371117259 | HGSNAT | c.955T>A (p.Phe319Ile) c.196T>A (p.Phe66Ile) c.59T>A c.821-3968T>A (n.821-3968T>A) c.91T>A (p.Phe31Ile) | |
8 | g.43178177T>C | CA371117260 | HGSNAT | c.955T>C (p.Phe319Leu) c.196T>C (p.Phe66Leu) c.59T>C c.821-3968T>C (n.821-3968T>C) c.91T>C (p.Phe31Leu) | |
8 | g.43178177T>G | CA371117262 | HGSNAT | c.955T>G (p.Phe319Val) c.196T>G (p.Phe66Val) c.59T>G c.821-3968T>G (n.821-3968T>G) c.91T>G (p.Phe31Val) | |
8 | g.43178178T>A | CA371117264 | HGSNAT | c.956T>A (p.Phe319Tyr) c.197T>A (p.Phe66Tyr) c.60T>A c.821-3967T>A (n.821-3967T>A) c.92T>A (p.Phe31Tyr) | dbSNP gnomAD v4 |
8 | g.43178178T>C | CA371117266 | HGSNAT | c.956T>C (p.Phe319Ser) c.197T>C (p.Phe66Ser) c.60T>C c.821-3967T>C (n.821-3967T>C) c.92T>C (p.Phe31Ser) | |
8 | g.43178178T>G | CA371117267 | HGSNAT | c.956T>G (p.Phe319Cys) c.197T>G (p.Phe66Cys) c.60T>G c.821-3967T>G (n.821-3967T>G) c.92T>G (p.Phe31Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43178178T= | CA1779771418 | HGSNAT | c.956T= (p.Phe319=) c.197T= (p.Phe66=) c.60T= c.821-3967T= (n.821-3967T=) c.92T= (p.Phe31=) | |
8 | g.43178179C>A | CA371117269 | HGSNAT | c.957C>A (p.Phe319Leu) c.198C>A (p.Phe66Leu) c.61C>A c.821-3966C>A (n.821-3966C>A) c.93C>A (p.Phe31Leu) | |
8 | g.43178179C>G | CA371117271 | HGSNAT | c.957C>G (p.Phe319Leu) c.198C>G (p.Phe66Leu) c.61C>G c.821-3966C>G (n.821-3966C>G) c.93C>G (p.Phe31Leu) | |
8 | g.43178179C>T | CA460573280 | HGSNAT | c.957C>T (p.Phe319=) c.198C>T (p.Phe66=) c.61C>T c.821-3966C>T (n.821-3966C>T) c.93C>T (p.Phe31=) | gnomAD v4 |
8 | g.43178180C>A | CA371117273 | HGSNAT | c.958C>A (p.Leu320Met) c.199C>A (p.Leu67Met) c.62C>A c.821-3965C>A (n.821-3965C>A) c.94C>A (p.Leu32Met) | |
8 | g.43178180C>G | CA371117274 | HGSNAT | c.958C>G (p.Leu320Val) c.199C>G (p.Leu67Val) c.62C>G c.821-3965C>G (n.821-3965C>G) c.94C>G (p.Leu32Val) | |
8 | g.43178180C>T | CA460573283 | HGSNAT | c.958C>T (p.Leu320=) c.199C>T (p.Leu67=) c.62C>T c.821-3965C>T (n.821-3965C>T) c.94C>T (p.Leu32=) | |
8 | g.43178181del | CA2580078325 | HGSNAT | c.959del (p.Leu320ArgfsTer2) c.200del (p.Leu67ArgfsTer2) c.63del c.821-3964del (n.821-3964del) c.95del (p.Leu32ArgfsTer2) | ClinVar |
8 | g.43178181T>A | CA371117275 | HGSNAT | c.959T>A (p.Leu320Gln) c.200T>A (p.Leu67Gln) c.63T>A c.821-3964T>A (n.821-3964T>A) c.95T>A (p.Leu32Gln) | |
8 | g.43178181T>C | CA371117277 | HGSNAT | c.959T>C (p.Leu320Pro) c.200T>C (p.Leu67Pro) c.63T>C c.821-3964T>C (n.821-3964T>C) c.95T>C (p.Leu32Pro) | |
8 | g.43178181T>G | CA371117279 | HGSNAT | c.959T>G (p.Leu320Arg) c.200T>G (p.Leu67Arg) c.63T>G c.821-3964T>G (n.821-3964T>G) c.95T>G (p.Leu32Arg) | |
8 | g.43178182G>A | CA460573294 | HGSNAT | c.960G>A (p.Leu320=) c.201G>A (p.Leu67=) c.64G>A c.821-3963G>A (n.821-3963G>A) c.96G>A (p.Leu32=) | |
8 | g.43178182G>C | CA460573296 | HGSNAT | c.960G>C (p.Leu320=) c.201G>C (p.Leu67=) c.64G>C c.821-3963G>C (n.821-3963G>C) c.96G>C (p.Leu32=) | |
8 | g.43178182G>T | CA460573298 | HGSNAT | c.960G>T (p.Leu320=) c.201G>T (p.Leu67=) c.64G>T c.821-3963G>T (n.821-3963G>T) c.96G>T (p.Leu32=) | |
8 | g.43178183T>A | CA371117282 | HGSNAT | c.961T>A (p.Leu321Ile) c.202T>A (p.Leu68Ile) c.65T>A c.821-3962T>A (n.821-3962T>A) c.97T>A (p.Leu33Ile) | |
8 | g.43178183T>C | CA176068211 | HGSNAT | c.961T>C (p.Leu321=) c.202T>C (p.Leu68=) c.65T>C c.821-3962T>C (n.821-3962T>C) c.97T>C (p.Leu33=) | dbSNP |
8 | g.43178183T>G | CA371117280 | HGSNAT | c.961T>G (p.Leu321Val) c.202T>G (p.Leu68Val) c.65T>G c.821-3962T>G (n.821-3962T>G) c.97T>G (p.Leu33Val) | |
8 | g.43178183T= | CA1779771419 | HGSNAT | c.961T= (p.Leu321=) c.202T= (p.Leu68=) c.65T= c.821-3962T= (n.821-3962T=) c.97T= (p.Leu33=) | |
8 | g.43178184T>A | CA371117284 | HGSNAT | c.962T>A (p.Leu321Ter) c.203T>A (p.Leu68Ter) c.66T>A c.821-3961T>A (n.821-3961T>A) c.98T>A (p.Leu33Ter) | |
8 | g.43178184T>C | CA371117287 | HGSNAT | c.962T>C (p.Leu321Ser) c.203T>C (p.Leu68Ser) c.66T>C c.821-3961T>C (n.821-3961T>C) c.98T>C (p.Leu33Ser) | |
8 | g.43178184T>G | CA114865 | HGSNAT | c.962T>G (p.Leu321Ter) c.203T>G (p.Leu68Ter) c.66T>G c.821-3961T>G (n.821-3961T>G) c.98T>G (p.Leu33Ter) | ClinVar dbSNP |
8 | g.43178184T= | CA1779771420 | HGSNAT | c.962T= (p.Leu321=) c.203T= (p.Leu68=) c.66T= c.821-3961T= (n.821-3961T=) c.98T= (p.Leu33=) |