| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770161T>A | CA386302814 | GNPTAB | c.1144A>T (p.Thr382Ser) c.1063A>T (p.Thr355Ser) c.928A>T (p.Thr310Ser) c.-84A>T (n.-84A>T) | |
| 12 | g.101770161T>C | CA6746692 | GNPTAB | c.1144A>G (p.Thr382Ala) c.1063A>G (p.Thr355Ala) c.928A>G (p.Thr310Ala) c.-84A>G (n.-84A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770161T>G | CA239360 | GNPTAB | c.1144A>C (p.Thr382Pro) c.1063A>C (p.Thr355Pro) c.928A>C (p.Thr310Pro) c.-84A>C (n.-84A>C) | ClinVar dbSNP |
| 12 | g.101770161T= | CA2058957891 | GNPTAB | c.1144A= (p.Thr382=) c.1063A= (p.Thr355=) c.928A= (p.Thr310=) c.-84A= (n.-84A=) | |
| 12 | g.101770162A>C | CA481577896 | GNPTAB | c.1143T>G (p.Pro381=) c.1062T>G (p.Pro354=) c.927T>G (p.Pro309=) c.-85T>G (n.-85T>G) | |
| 12 | g.101770162A>G | CA481577898 | GNPTAB | c.1143T>C (p.Pro381=) c.1062T>C (p.Pro354=) c.927T>C (p.Pro309=) c.-85T>C (n.-85T>C) | |
| 12 | g.101770162A>T | CA481577897 | GNPTAB | c.1143T>A (p.Pro381=) c.1062T>A (p.Pro354=) c.927T>A (p.Pro309=) c.-85T>A (n.-85T>A) | |
| 12 | g.101770163G>A | CA386302816 | GNPTAB | c.1142C>T (p.Pro381Leu) c.1061C>T (p.Pro354Leu) c.926C>T (p.Pro309Leu) c.-86C>T (n.-86C>T) | |
| 12 | g.101770163G>C | CA386302819 | GNPTAB | c.1142C>G (p.Pro381Arg) c.1061C>G (p.Pro354Arg) c.926C>G (p.Pro309Arg) c.-86C>G (n.-86C>G) | |
| 12 | g.101770163G>T | CA386302818 | GNPTAB | c.1142C>A (p.Pro381His) c.1061C>A (p.Pro354His) c.926C>A (p.Pro309His) c.-86C>A (n.-86C>A) | |
| 12 | g.101770164G>A | CA386302821 | GNPTAB | c.1141C>T (p.Pro381Ser) c.1060C>T (p.Pro354Ser) c.925C>T (p.Pro309Ser) c.-87C>T (n.-87C>T) | |
| 12 | g.101770164G>C | CA386302822 | GNPTAB | c.1141C>G (p.Pro381Ala) c.1060C>G (p.Pro354Ala) c.925C>G (p.Pro309Ala) c.-87C>G (n.-87C>G) | |
| 12 | g.101770164G>T | CA386302824 | GNPTAB | c.1141C>A (p.Pro381Thr) c.1060C>A (p.Pro354Thr) c.925C>A (p.Pro309Thr) c.-87C>A (n.-87C>A) | |
| 12 | g.101770165C>A | CA386302825 | GNPTAB | c.1140G>T (p.Leu380Phe) c.1059G>T (p.Leu353Phe) c.924G>T (p.Leu308Phe) c.-88G>T (n.-88G>T) | |
| 12 | g.101770165C>G | CA386302826 | GNPTAB | c.1140G>C (p.Leu380Phe) c.1059G>C (p.Leu353Phe) c.924G>C (p.Leu308Phe) c.-88G>C (n.-88G>C) | |
| 12 | g.101770165C>T | CA481577899 | GNPTAB | c.1140G>A (p.Leu380=) c.1059G>A (p.Leu353=) c.924G>A (p.Leu308=) c.-88G>A (n.-88G>A) | |
| 12 | g.101770166A= | CA2058957892 | GNPTAB | c.1139T= (p.Leu380=) c.1058T= (p.Leu353=) c.923T= (p.Leu308=) c.-89T= (n.-89T=) | |
| 12 | g.101770166A>C | CA386302827 | GNPTAB | c.1139T>G (p.Leu380Trp) c.1058T>G (p.Leu353Trp) c.923T>G (p.Leu308Trp) c.-89T>G (n.-89T>G) | |
| 12 | g.101770166A>G | CA386302828 | GNPTAB | c.1139T>C (p.Leu380Ser) c.1058T>C (p.Leu353Ser) c.923T>C (p.Leu308Ser) c.-89T>C (n.-89T>C) | dbSNP gnomAD v4 |
| 12 | g.101770166A>T | CA386302830 | GNPTAB | c.1139T>A (p.Leu380Ter) c.1058T>A (p.Leu353Ter) c.923T>A (p.Leu308Ter) c.-89T>A (n.-89T>A) | |
| 12 | g.101770167A>C | CA386302831 | GNPTAB | c.1138T>G (p.Leu380Val) c.1057T>G (p.Leu353Val) c.922T>G (p.Leu308Val) c.-90T>G (n.-90T>G) | |
| 12 | g.101770167A>G | CA481577900 | GNPTAB | c.1138T>C (p.Leu380=) c.1057T>C (p.Leu353=) c.922T>C (p.Leu308=) c.-90T>C (n.-90T>C) | |
| 12 | g.101770167A>T | CA386302833 | GNPTAB | c.1138T>A (p.Leu380Met) c.1057T>A (p.Leu353Met) c.922T>A (p.Leu308Met) c.-90T>A (n.-90T>A) | |
| 12 | g.101770168G>A | CA481577901 | GNPTAB | c.1137C>T (p.His379=) c.1056C>T (p.His352=) c.921C>T (p.His307=) c.-91C>T (n.-91C>T) | |
| 12 | g.101770168G>C | CA386302834 | GNPTAB | c.1137C>G (p.His379Gln) c.1056C>G (p.His352Gln) c.921C>G (p.His307Gln) c.-91C>G (n.-91C>G) | |
| 12 | g.101770168G>T | CA386302836 | GNPTAB | c.1137C>A (p.His379Gln) c.1056C>A (p.His352Gln) c.921C>A (p.His307Gln) c.-91C>A (n.-91C>A) | |
| 12 | g.101770169T>A | CA386302837 | GNPTAB | c.1136A>T (p.His379Leu) c.1055A>T (p.His352Leu) c.920A>T (p.His307Leu) c.-92A>T (n.-92A>T) | |
| 12 | g.101770169T>C | CA386302840 | GNPTAB | c.1136A>G (p.His379Arg) c.1055A>G (p.His352Arg) c.920A>G (p.His307Arg) c.-92A>G (n.-92A>G) | gnomAD v4 |
| 12 | g.101770169T>G | CA386302839 | GNPTAB | c.1136A>C (p.His379Pro) c.1055A>C (p.His352Pro) c.920A>C (p.His307Pro) c.-92A>C (n.-92A>C) | |
| 12 | g.101770170G>A | CA386302842 | GNPTAB | c.1135C>T (p.His379Tyr) c.1054C>T (p.His352Tyr) c.919C>T (p.His307Tyr) c.-93C>T (n.-93C>T) | |
| 12 | g.101770170G>C | CA386302844 | GNPTAB | c.1135C>G (p.His379Asp) c.1054C>G (p.His352Asp) c.919C>G (p.His307Asp) c.-93C>G (n.-93C>G) | |
| 12 | g.101770170G>T | CA386302845 | GNPTAB | c.1135C>A (p.His379Asn) c.1054C>A (p.His352Asn) c.919C>A (p.His307Asn) c.-93C>A (n.-93C>A) | |
| 12 | g.101770171G>A | CA481577902 | GNPTAB | c.1134C>T (p.Ser378=) c.1053C>T (p.Ser351=) c.918C>T (p.Ser306=) c.-94C>T (n.-94C>T) | |
| 12 | g.101770171G>C | CA386302846 | GNPTAB | c.1134C>G (p.Ser378Arg) c.1053C>G (p.Ser351Arg) c.918C>G (p.Ser306Arg) c.-94C>G (n.-94C>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101770171G>T | CA386302848 | GNPTAB | c.1134C>A (p.Ser378Arg) c.1053C>A (p.Ser351Arg) c.918C>A (p.Ser306Arg) c.-94C>A (n.-94C>A) | |
| 12 | g.101770172C>A | CA386302849 | GNPTAB | c.1133G>T (p.Ser378Ile) c.1052G>T (p.Ser351Ile) c.917G>T (p.Ser306Ile) c.-95G>T (n.-95G>T) | |
| 12 | g.101770172C>G | CA386302851 | GNPTAB | c.1133G>C (p.Ser378Thr) c.1052G>C (p.Ser351Thr) c.917G>C (p.Ser306Thr) c.-95G>C (n.-95G>C) | |
| 12 | g.101770172C>T | CA386302853 | GNPTAB | c.1133G>A (p.Ser378Asn) c.1052G>A (p.Ser351Asn) c.917G>A (p.Ser306Asn) c.-95G>A (n.-95G>A) | |
| 12 | g.101770173T>A | CA386302854 | GNPTAB | c.1132A>T (p.Ser378Cys) c.1051A>T (p.Ser351Cys) c.916A>T (p.Ser306Cys) c.-96A>T (n.-96A>T) | |
| 12 | g.101770173T>C | CA386302855 | GNPTAB | c.1132A>G (p.Ser378Gly) c.1051A>G (p.Ser351Gly) c.916A>G (p.Ser306Gly) c.-96A>G (n.-96A>G) | gnomAD v4 |
| 12 | g.101770173T>G | CA386302857 | GNPTAB | c.1132A>C (p.Ser378Arg) c.1051A>C (p.Ser351Arg) c.916A>C (p.Ser306Arg) c.-96A>C (n.-96A>C) | |
| 12 | g.101770174C>A | CA386302858 | GNPTAB | c.1131G>T (p.Leu377Phe) c.1050G>T (p.Leu350Phe) c.915G>T (p.Leu305Phe) c.-97G>T (n.-97G>T) | |
| 12 | g.101770174C>G | CA386302860 | GNPTAB | c.1131G>C (p.Leu377Phe) c.1050G>C (p.Leu350Phe) c.915G>C (p.Leu305Phe) c.-97G>C (n.-97G>C) | |
| 12 | g.101770174C>T | CA481577903 | GNPTAB | c.1131G>A (p.Leu377=) c.1050G>A (p.Leu350=) c.915G>A (p.Leu305=) c.-97G>A (n.-97G>A) | |
| 12 | g.101770175A>C | CA386302862 | GNPTAB | c.1130T>G (p.Leu377Trp) c.1049T>G (p.Leu350Trp) c.914T>G (p.Leu305Trp) c.-98T>G (n.-98T>G) | |
| 12 | g.101770175A>G | CA386302864 | GNPTAB | c.1130T>C (p.Leu377Ser) c.1049T>C (p.Leu350Ser) c.914T>C (p.Leu305Ser) c.-98T>C (n.-98T>C) | |
| 12 | g.101770175A>T | CA386302863 | GNPTAB | c.1130T>A (p.Leu377Ter) c.1049T>A (p.Leu350Ter) c.914T>A (p.Leu305Ter) c.-98T>A (n.-98T>A) | |
| 12 | g.101770176A>C | CA386302865 | GNPTAB | c.1129T>G (p.Leu377Val) c.1048T>G (p.Leu350Val) c.913T>G (p.Leu305Val) c.-99T>G (n.-99T>G) | |
| 12 | g.101770176A>G | CA481577904 | GNPTAB | c.1129T>C (p.Leu377=) c.1048T>C (p.Leu350=) c.913T>C (p.Leu305=) c.-99T>C (n.-99T>C) | |
| 12 | g.101770176A>T | CA386302866 | GNPTAB | c.1129T>A (p.Leu377Met) c.1048T>A (p.Leu350Met) c.913T>A (p.Leu305Met) c.-99T>A (n.-99T>A) |