Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.136172592G>A | CA361039102 | SMAD5 | c.934G>A (p.Gly312Ser) c.401G>A n.218G>A | |
5 | g.136172592G>C | CA361039103 | SMAD5 | c.934G>C (p.Gly312Arg) c.401G>C n.218G>C | |
5 | g.136172592G>T | CA361039104 | SMAD5 | c.934G>T (p.Gly312Cys) c.401G>T n.218G>T | |
5 | g.136172593G>A | CA361039108 | SMAD5 | c.935G>A (p.Gly312Asp) c.402G>A n.219G>A | |
5 | g.136172593G>C | CA361039107 | SMAD5 | c.935G>C (p.Gly312Ala) c.402G>C n.219G>C | |
5 | g.136172593G>T | CA361039106 | SMAD5 | c.935G>T (p.Gly312Val) c.402G>T n.219G>T | |
5 | g.136172594T>A | CA446552100 | SMAD5 | c.936T>A (p.Gly312=) c.403T>A n.220T>A | |
5 | g.136172594T>C | CA446552099 | SMAD5 | c.936T>C (p.Gly312=) c.403T>C n.220T>C | |
5 | g.136172594T>G | CA446552101 | SMAD5 | c.936T>G (p.Gly312=) c.403T>G n.220T>G | |
5 | g.136172595T>A | CA361039110 | SMAD5 | c.937T>A (p.Leu313Met) c.404T>A n.221T>A | |
5 | g.136172595T>C | CA446552102 | SMAD5 | c.937T>C (p.Leu313=) c.404T>C n.221T>C | |
5 | g.136172595T>G | CA361039109 | SMAD5 | c.937T>G (p.Leu313Val) c.404T>G n.221T>G | |
5 | g.136172596T>A | CA361039111 | SMAD5 | c.938T>A (p.Leu313Ter) c.405T>A n.222T>A | |
5 | g.136172596T>C | CA361039112 | SMAD5 | c.938T>C (p.Leu313Ser) c.405T>C n.222T>C | |
5 | g.136172596T>G | CA361039113 | SMAD5 | c.938T>G (p.Leu313Trp) c.405T>G n.222T>G | |
5 | g.136172597G>A | CA446552106 | SMAD5 | c.939G>A (p.Leu313=) c.406G>A n.223G>A | gnomAD v4 |
5 | g.136172597G>C | CA361039114 | SMAD5 | c.939G>C (p.Leu313Phe) c.406G>C n.223G>C | |
5 | g.136172597G>T | CA361039115 | SMAD5 | c.939G>T (p.Leu313Phe) c.406G>T n.223G>T | COSMIC |
5 | g.136172598T>A | CA361039117 | SMAD5 | c.940T>A (p.Leu314Met) c.407T>A n.224T>A | |
5 | g.136172598T>C | CA446552107 | SMAD5 | c.940T>C (p.Leu314=) c.407T>C n.224T>C | gnomAD v4 |
5 | g.136172598T>G | CA361039118 | SMAD5 | c.940T>G (p.Leu314Val) c.407T>G n.224T>G | |
5 | g.136172599T>A | CA361039123 | SMAD5 | c.941T>A (p.Leu314Ter) c.408T>A n.225T>A | |
5 | g.136172599T>C | CA361039124 | SMAD5 | c.941T>C (p.Leu314Ser) c.408T>C n.225T>C | |
5 | g.136172599T>G | CA361039129 | SMAD5 | c.941T>G (p.Leu314Trp) c.408T>G n.225T>G | |
5 | g.136172600G>A | CA446552109 | SMAD5 | c.942G>A (p.Leu314=) c.409G>A n.226G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.136172600G>C | CA361039140 | SMAD5 | c.942G>C (p.Leu314Phe) c.409G>C n.226G>C | |
5 | g.136172600G= | CA1584829608 | SMAD5 | c.942G= (p.Leu314=) c.409G= n.226G= | |
5 | g.136172600G>T | CA361039150 | SMAD5 | c.942G>T (p.Leu314Phe) c.409G>T n.226G>T | |
5 | g.136172601T>A | CA361039161 | SMAD5 | c.943T>A (p.Ser315Thr) c.410T>A n.227T>A | |
5 | g.136172601T>C | CA361039153 | SMAD5 | c.943T>C (p.Ser315Pro) c.410T>C n.227T>C | |
5 | g.136172601T>G | CA361039159 | SMAD5 | c.943T>G (p.Ser315Ala) c.410T>G n.227T>G | |
5 | g.136172602C>A | CA361039163 | SMAD5 | c.944C>A (p.Ser315Ter) c.411C>A n.228C>A | gnomAD v4 |
5 | g.136172602C>G | CA361039164 | SMAD5 | c.944C>G (p.Ser315Ter) c.411C>G n.228C>G | |
5 | g.136172602C>T | CA361039167 | SMAD5 | c.944C>T (p.Ser315Leu) c.411C>T n.228C>T | |
5 | g.136172603A= | CA1584829612 | SMAD5 | c.945A= (p.Ser315=) c.412A= n.229A= | |
5 | g.136172603A>C | CA3420880 | SMAD5 | c.945A>C (p.Ser315=) c.412A>C n.229A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136172603A>G | CA128074669 | SMAD5 | c.945A>G (p.Ser315=) c.412A>G n.229A>G | dbSNP |
5 | g.136172603A>T | CA446552111 | SMAD5 | c.945A>T (p.Ser315=) c.412A>T n.229A>T | |
5 | g.136172604A>C | CA361039175 | SMAD5 | c.946A>C (p.Asn316His) c.413A>C n.230A>C | |
5 | g.136172604A>G | CA361039177 | SMAD5 | c.946A>G (p.Asn316Asp) c.413A>G n.230A>G | |
5 | g.136172604A>T | CA361039178 | SMAD5 | c.946A>T (p.Asn316Tyr) c.413A>T n.230A>T | |
5 | g.136172605A= | CA1584829616 | SMAD5 | c.947A= (p.Asn316=) c.414A= n.231A= | |
5 | g.136172605A>C | CA361039180 | SMAD5 | c.947A>C (p.Asn316Thr) c.414A>C n.231A>C | |
5 | g.136172605A>G | CA3420881 | SMAD5 | c.947A>G (p.Asn316Ser) c.414A>G n.231A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136172605A>T | CA361039207 | SMAD5 | c.947A>T (p.Asn316Ile) c.414A>T n.231A>T | |
5 | g.136172606T>A | CA361039213 | SMAD5 | c.948T>A (p.Asn316Lys) c.415T>A n.232T>A | |
5 | g.136172606T>C | CA446552115 | SMAD5 | c.948T>C (p.Asn316=) c.415T>C n.232T>C | gnomAD v4 |
5 | g.136172606T>G | CA361039215 | SMAD5 | c.948T>G (p.Asn316Lys) c.415T>G n.232T>G | |
5 | g.136172607G>A | CA361039225 | SMAD5 | c.949G>A (p.Val317Ile) c.416G>A n.233G>A | |
5 | g.136172607G>C | CA361039227 | SMAD5 | c.949G>C (p.Val317Leu) c.416G>C n.233G>C |