| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107917304C>A | CA368858105 | DLD | c.1078C>A (p.Pro360Thr) c.*752C>A (n.*752C>A) c.934C>A (p.Pro312Thr) c.1009C>A (p.Pro337Thr) c.781C>A (p.Pro261Thr) | gnomAD v4 |
| 7 | g.107917304C>G | CA368858107 | DLD | c.1078C>G (p.Pro360Ala) c.*752C>G (n.*752C>G) c.934C>G (p.Pro312Ala) c.1009C>G (p.Pro337Ala) c.781C>G (p.Pro261Ala) | |
| 7 | g.107917304C>T | CA368858108 | DLD | c.1078C>T (p.Pro360Ser) c.*752C>T (n.*752C>T) c.934C>T (p.Pro312Ser) c.1009C>T (p.Pro337Ser) c.781C>T (p.Pro261Ser) | |
| 7 | g.107917305C>A | CA368858109 | DLD | c.1079C>A (p.Pro360Gln) c.*753C>A (n.*753C>A) c.935C>A (p.Pro312Gln) c.1010C>A (p.Pro337Gln) c.782C>A (p.Pro261Gln) | |
| 7 | g.107917305C>G | CA368858111 | DLD | c.1079C>G (p.Pro360Arg) c.*753C>G (n.*753C>G) c.935C>G (p.Pro312Arg) c.1010C>G (p.Pro337Arg) c.782C>G (p.Pro261Arg) | |
| 7 | g.107917305C>T | CA368858113 | DLD | c.1079C>T (p.Pro360Leu) c.*753C>T (n.*753C>T) c.935C>T (p.Pro312Leu) c.1010C>T (p.Pro337Leu) c.782C>T (p.Pro261Leu) | |
| 7 | g.107917306A>C | CA457109380 | DLD | c.1080A>C (p.Pro360=) c.*754A>C (n.*754A>C) c.936A>C (p.Pro312=) c.1011A>C (p.Pro337=) c.783A>C (p.Pro261=) | |
| 7 | g.107917306A>G | CA457109381 | DLD | c.1080A>G (p.Pro360=) c.*754A>G (n.*754A>G) c.936A>G (p.Pro312=) c.1011A>G (p.Pro337=) c.783A>G (p.Pro261=) | |
| 7 | g.107917306A>T | CA457109383 | DLD | c.1080A>T (p.Pro360=) c.*754A>T (n.*754A>T) c.936A>T (p.Pro312=) c.1011A>T (p.Pro337=) c.783A>T (p.Pro261=) | |
| 7 | g.107917306_107917312dup | CA2695199607 | DLD | c.1080_1086dup (p.Ala363AsnfsTer9) c.*754_*760dup (n.*754_*760dup) c.936_942dup (p.Ala315AsnfsTer9) c.1011_1017dup (p.Ala340AsnfsTer9) c.783_789dup (p.Ala264AsnfsTer9) | ClinVar |
| 7 | g.107917307A= | CA1732860028 | DLD | c.1081A= (p.Met361=) c.*755A= (n.*755A=) c.937A= (p.Met313=) c.1012A= (p.Met338=) c.784A= (p.Met262=) | |
| 7 | g.107917307A>C | CA368858116 | DLD | c.1081A>C (p.Met361Leu) c.*755A>C (n.*755A>C) c.937A>C (p.Met313Leu) c.1012A>C (p.Met338Leu) c.784A>C (p.Met262Leu) | |
| 7 | g.107917307A>G | CA256139 | DLD | c.1081A>G (p.Met361Val) c.*755A>G (n.*755A>G) c.937A>G (p.Met313Val) c.1012A>G (p.Met338Val) c.784A>G (p.Met262Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107917307A>T | CA368858115 | DLD | c.1081A>T (p.Met361Leu) c.*755A>T (n.*755A>T) c.937A>T (p.Met313Leu) c.1012A>T (p.Met338Leu) c.784A>T (p.Met262Leu) | |
| 7 | g.107917308T>A | CA368858119 | DLD | c.1082T>A (p.Met361Lys) c.*756T>A (n.*756T>A) c.938T>A (p.Met313Lys) c.1013T>A (p.Met338Lys) c.785T>A (p.Met262Lys) | |
| 7 | g.107917308T>C | CA368858120 | DLD | c.1082T>C (p.Met361Thr) c.*756T>C (n.*756T>C) c.938T>C (p.Met313Thr) c.1013T>C (p.Met338Thr) c.785T>C (p.Met262Thr) | |
| 7 | g.107917308T>G | CA368858121 | DLD | c.1082T>G (p.Met361Arg) c.*756T>G (n.*756T>G) c.938T>G (p.Met313Arg) c.1013T>G (p.Met338Arg) c.785T>G (p.Met262Arg) | |
| 7 | g.107917309G>A | CA368858122 | DLD | c.1083G>A (p.Met361Ile) c.*757G>A (n.*757G>A) c.939G>A (p.Met313Ile) c.1014G>A (p.Met338Ile) c.786G>A (p.Met262Ile) | |
| 7 | g.107917309G>C | CA368858124 | DLD | c.1083G>C (p.Met361Ile) c.*757G>C (n.*757G>C) c.939G>C (p.Met313Ile) c.1014G>C (p.Met338Ile) c.786G>C (p.Met262Ile) | |
| 7 | g.107917309G>T | CA368858126 | DLD | c.1083G>T (p.Met361Ile) c.*757G>T (n.*757G>T) c.939G>T (p.Met313Ile) c.1014G>T (p.Met338Ile) c.786G>T (p.Met262Ile) | |
| 7 | g.107917310C>A | CA368858129 | DLD | c.1084C>A (p.Leu362Met) c.*758C>A (n.*758C>A) c.940C>A (p.Leu314Met) c.1015C>A (p.Leu339Met) c.787C>A (p.Leu263Met) | |
| 7 | g.107917310C>G | CA368858127 | DLD | c.1084C>G (p.Leu362Val) c.*758C>G (n.*758C>G) c.940C>G (p.Leu314Val) c.1015C>G (p.Leu339Val) c.787C>G (p.Leu263Val) | |
| 7 | g.107917310C>T | CA457109390 | DLD | c.1084C>T (p.Leu362=) c.*758C>T (n.*758C>T) c.940C>T (p.Leu314=) c.1015C>T (p.Leu339=) c.787C>T (p.Leu263=) | |
| 7 | g.107917311T>A | CA368858130 | DLD | c.1085T>A (p.Leu362Gln) c.*759T>A (n.*759T>A) c.941T>A (p.Leu314Gln) c.1016T>A (p.Leu339Gln) c.788T>A (p.Leu263Gln) | |
| 7 | g.107917311T>C | CA368858131 | DLD | c.1085T>C (p.Leu362Pro) c.*759T>C (n.*759T>C) c.941T>C (p.Leu314Pro) c.1016T>C (p.Leu339Pro) c.788T>C (p.Leu263Pro) | |
| 7 | g.107917311T>G | CA368858133 | DLD | c.1085T>G (p.Leu362Arg) c.*759T>G (n.*759T>G) c.941T>G (p.Leu314Arg) c.1016T>G (p.Leu339Arg) c.788T>G (p.Leu263Arg) | |
| 7 | g.107917312G>A | CA457109397 | DLD | c.1086G>A (p.Leu362=) c.*760G>A (n.*760G>A) c.942G>A (p.Leu314=) c.1017G>A (p.Leu339=) c.789G>A (p.Leu263=) | COSMIC COSMIC |
| 7 | g.107917312G>C | CA457109395 | DLD | c.1086G>C (p.Leu362=) c.*760G>C (n.*760G>C) c.942G>C (p.Leu314=) c.1017G>C (p.Leu339=) c.789G>C (p.Leu263=) | |
| 7 | g.107917312G>T | CA457109396 | DLD | c.1086G>T (p.Leu362=) c.*760G>T (n.*760G>T) c.942G>T (p.Leu314=) c.1017G>T (p.Leu339=) c.789G>T (p.Leu263=) | |
| 7 | g.107917313G>A | CA368858134 | DLD | c.1087G>A (p.Ala363Thr) c.*761G>A (n.*761G>A) c.943G>A (p.Ala315Thr) c.1018G>A (p.Ala340Thr) c.790G>A (p.Ala264Thr) | |
| 7 | g.107917313G>C | CA368858136 | DLD | c.1087G>C (p.Ala363Pro) c.*761G>C (n.*761G>C) c.943G>C (p.Ala315Pro) c.1018G>C (p.Ala340Pro) c.790G>C (p.Ala264Pro) | |
| 7 | g.107917313G>T | CA368858137 | DLD | c.1087G>T (p.Ala363Ser) c.*761G>T (n.*761G>T) c.943G>T (p.Ala315Ser) c.1018G>T (p.Ala340Ser) c.790G>T (p.Ala264Ser) | gnomAD v4 |
| 7 | g.107917314C>A | CA368858139 | DLD | c.1088C>A (p.Ala363Asp) c.*762C>A (n.*762C>A) c.944C>A (p.Ala315Asp) c.1019C>A (p.Ala340Asp) c.791C>A (p.Ala264Asp) | |
| 7 | g.107917314C= | CA1732860029 | DLD | c.1088C= (p.Ala363=) c.*762C= (n.*762C=) c.944C= (p.Ala315=) c.1019C= (p.Ala340=) c.791C= (p.Ala264=) | |
| 7 | g.107917314C>G | CA368858142 | DLD | c.1088C>G (p.Ala363Gly) c.*762C>G (n.*762C>G) c.944C>G (p.Ala315Gly) c.1019C>G (p.Ala340Gly) c.791C>G (p.Ala264Gly) | |
| 7 | g.107917314C>T | CA4434626 | DLD | c.1088C>T (p.Ala363Val) c.*762C>T (n.*762C>T) c.944C>T (p.Ala315Val) c.1019C>T (p.Ala340Val) c.791C>T (p.Ala264Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917315T>A | CA457109402 | DLD | c.1089T>A (p.Ala363=) c.*763T>A (n.*763T>A) c.945T>A (p.Ala315=) c.1020T>A (p.Ala340=) c.792T>A (p.Ala264=) | |
| 7 | g.107917315T>C | CA457109404 | DLD | c.1089T>C (p.Ala363=) c.*763T>C (n.*763T>C) c.945T>C (p.Ala315=) c.1020T>C (p.Ala340=) c.792T>C (p.Ala264=) | |
| 7 | g.107917315T>G | CA457109403 | DLD | c.1089T>G (p.Ala363=) c.*763T>G (n.*763T>G) c.945T>G (p.Ala315=) c.1020T>G (p.Ala340=) c.792T>G (p.Ala264=) | |
| 7 | g.107917316C>A | CA368858144 | DLD | c.1090C>A (p.His364Asn) c.*764C>A (n.*764C>A) c.946C>A (p.His316Asn) c.1021C>A (p.His341Asn) c.793C>A (p.His265Asn) | gnomAD v4 |
| 7 | g.107917316C>G | CA368858145 | DLD | c.1090C>G (p.His364Asp) c.*764C>G (n.*764C>G) c.946C>G (p.His316Asp) c.1021C>G (p.His341Asp) c.793C>G (p.His265Asp) | |
| 7 | g.107917316C>T | CA368858147 | DLD | c.1090C>T (p.His364Tyr) c.*764C>T (n.*764C>T) c.946C>T (p.His316Tyr) c.1021C>T (p.His341Tyr) c.793C>T (p.His265Tyr) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107917317A>C | CA368858149 | DLD | c.1091A>C (p.His364Pro) c.*765A>C (n.*765A>C) c.947A>C (p.His316Pro) c.1022A>C (p.His341Pro) c.794A>C (p.His265Pro) | |
| 7 | g.107917317A>G | CA368858150 | DLD | c.1091A>G (p.His364Arg) c.*765A>G (n.*765A>G) c.947A>G (p.His316Arg) c.1022A>G (p.His341Arg) c.794A>G (p.His265Arg) | |
| 7 | g.107917317A>T | CA368858151 | DLD | c.1091A>T (p.His364Leu) c.*765A>T (n.*765A>T) c.947A>T (p.His316Leu) c.1022A>T (p.His341Leu) c.794A>T (p.His265Leu) | |
| 7 | g.107917318C>A | CA368858153 | DLD | c.1092C>A (p.His364Gln) c.*766C>A (n.*766C>A) c.948C>A (p.His316Gln) c.1023C>A (p.His341Gln) c.795C>A (p.His265Gln) | |
| 7 | g.107917318C>G | CA368858155 | DLD | c.1092C>G (p.His364Gln) c.*766C>G (n.*766C>G) c.948C>G (p.His316Gln) c.1023C>G (p.His341Gln) c.795C>G (p.His265Gln) | gnomAD v4 |
| 7 | g.107917318C>T | CA457109407 | DLD | c.1092C>T (p.His364=) c.*766C>T (n.*766C>T) c.948C>T (p.His316=) c.1023C>T (p.His341=) c.795C>T (p.His265=) | |
| 7 | g.107917319A>C | CA368858156 | DLD | c.1093A>C (p.Lys365Gln) c.*767A>C (n.*767A>C) c.949A>C (p.Lys317Gln) c.1024A>C (p.Lys342Gln) c.796A>C (p.Lys266Gln) | |
| 7 | g.107917319A>G | CA368858157 | DLD | c.1093A>G (p.Lys365Glu) c.*767A>G (n.*767A>G) c.949A>G (p.Lys317Glu) c.1024A>G (p.Lys342Glu) c.796A>G (p.Lys266Glu) |