| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107917404T>A | CA368858455 | DLD | c.1178T>A (p.Ile393Asn) c.*852T>A (n.*852T>A) c.1034T>A (p.Ile345Asn) c.1109T>A (p.Ile370Asn) c.881T>A (p.Ile294Asn) | |
| 7 | g.107917404T>C | CA256135 | DLD | c.1178T>C (p.Ile393Thr) c.*852T>C (n.*852T>C) c.1034T>C (p.Ile345Thr) c.1109T>C (p.Ile370Thr) c.881T>C (p.Ile294Thr) | ClinVar dbSNP |
| 7 | g.107917404T>G | CA368858457 | DLD | c.1178T>G (p.Ile393Ser) c.*852T>G (n.*852T>G) c.1034T>G (p.Ile345Ser) c.1109T>G (p.Ile370Ser) c.881T>G (p.Ile294Ser) | |
| 7 | g.107917404T= | CA1732860064 | DLD | c.1178T= (p.Ile393=) c.*852T= (n.*852T=) c.1034T= (p.Ile345=) c.1109T= (p.Ile370=) c.881T= (p.Ile294=) | |
| 7 | g.107917405T>A | CA457109498 | DLD | c.1179T>A (p.Ile393=) c.*853T>A (n.*853T>A) c.1035T>A (p.Ile345=) c.1110T>A (p.Ile370=) c.882T>A (p.Ile294=) | dbSNP |
| 7 | g.107917405T>C | CA457109499 | DLD | c.1179T>C (p.Ile393=) c.*853T>C (n.*853T>C) c.1035T>C (p.Ile345=) c.1110T>C (p.Ile370=) c.882T>C (p.Ile294=) | ClinVar gnomAD v4 |
| 7 | g.107917405T>G | CA4434637 | DLD | c.1179T>G (p.Ile393Met) c.*853T>G (n.*853T>G) c.1035T>G (p.Ile345Met) c.1110T>G (p.Ile370Met) c.882T>G (p.Ile294Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917405T= | CA1732860065 | DLD | c.1179T= (p.Ile393=) c.*853T= (n.*853T=) c.1035T= (p.Ile345=) c.1110T= (p.Ile370=) c.882T= (p.Ile294=) | |
| 7 | g.107917406T>A | CA368858462 | DLD | c.1180T>A (p.Tyr394Asn) c.*854T>A (n.*854T>A) c.1036T>A (p.Tyr346Asn) c.1111T>A (p.Tyr371Asn) c.883T>A (p.Tyr295Asn) | gnomAD v4 |
| 7 | g.107917406T>C | CA368858459 | DLD | c.1180T>C (p.Tyr394His) c.*854T>C (n.*854T>C) c.1036T>C (p.Tyr346His) c.1111T>C (p.Tyr371His) c.883T>C (p.Tyr295His) | |
| 7 | g.107917406T>G | CA368858461 | DLD | c.1180T>G (p.Tyr394Asp) c.*854T>G (n.*854T>G) c.1036T>G (p.Tyr346Asp) c.1111T>G (p.Tyr371Asp) c.883T>G (p.Tyr295Asp) | gnomAD v4 |
| 7 | g.107917407A>C | CA368858464 | DLD | c.1181A>C (p.Tyr394Ser) c.*855A>C (n.*855A>C) c.1037A>C (p.Tyr346Ser) c.1112A>C (p.Tyr371Ser) c.884A>C (p.Tyr295Ser) | |
| 7 | g.107917407A>G | CA368858465 | DLD | c.1181A>G (p.Tyr394Cys) c.*855A>G (n.*855A>G) c.1037A>G (p.Tyr346Cys) c.1112A>G (p.Tyr371Cys) c.884A>G (p.Tyr295Cys) | |
| 7 | g.107917407A>T | CA368858466 | DLD | c.1181A>T (p.Tyr394Phe) c.*855A>T (n.*855A>T) c.1037A>T (p.Tyr346Phe) c.1112A>T (p.Tyr371Phe) c.884A>T (p.Tyr295Phe) | gnomAD v4 |
| 7 | g.107917413_107917414del | CA2580617077 | DLD | c.1187_1188del (p.His396ProfsTer2) c.*861_*862del (n.*861_*862del) c.1043_1044del (p.His348ProfsTer2) c.1118_1119del (p.His373ProfsTer2) c.890_891del (p.His297ProfsTer2) | ClinVar |
| 7 | g.107917408C>A | CA368858468 | DLD | c.1182C>A (p.Tyr394Ter) c.*856C>A (n.*856C>A) c.1038C>A (p.Tyr346Ter) c.1113C>A (p.Tyr371Ter) c.885C>A (p.Tyr295Ter) | |
| 7 | g.107917408C= | CA1732860066 | DLD | c.1182C= (p.Tyr394=) c.*856C= (n.*856C=) c.1038C= (p.Tyr346=) c.1113C= (p.Tyr371=) c.885C= (p.Tyr295=) | |
| 7 | g.107917408C>G | CA368858470 | DLD | c.1182C>G (p.Tyr394Ter) c.*856C>G (n.*856C>G) c.1038C>G (p.Tyr346Ter) c.1113C>G (p.Tyr371Ter) c.885C>G (p.Tyr295Ter) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.107917408C>T | CA4434638 | DLD | c.1182C>T (p.Tyr394=) c.*856C>T (n.*856C>T) c.1038C>T (p.Tyr346=) c.1113C>T (p.Tyr371=) c.885C>T (p.Tyr295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917409A>C | CA368858475 | DLD | c.1183A>C (p.Thr395Pro) c.*857A>C (n.*857A>C) c.1039A>C (p.Thr347Pro) c.1114A>C (p.Thr372Pro) c.886A>C (p.Thr296Pro) | |
| 7 | g.107917409A>G | CA368858474 | DLD | c.1183A>G (p.Thr395Ala) c.*857A>G (n.*857A>G) c.1039A>G (p.Thr347Ala) c.1114A>G (p.Thr372Ala) c.886A>G (p.Thr296Ala) | |
| 7 | g.107917409A>T | CA368858472 | DLD | c.1183A>T (p.Thr395Ser) c.*857A>T (n.*857A>T) c.1039A>T (p.Thr347Ser) c.1114A>T (p.Thr372Ser) c.886A>T (p.Thr296Ser) | |
| 7 | g.107917410C>A | CA368858477 | DLD | c.1184C>A (p.Thr395Lys) c.*858C>A (n.*858C>A) c.1040C>A (p.Thr347Lys) c.1115C>A (p.Thr372Lys) c.887C>A (p.Thr296Lys) | |
| 7 | g.107917410C>G | CA368858479 | DLD | c.1184C>G (p.Thr395Arg) c.*858C>G (n.*858C>G) c.1040C>G (p.Thr347Arg) c.1115C>G (p.Thr372Arg) c.887C>G (p.Thr296Arg) | |
| 7 | g.107917410C>T | CA368858480 | DLD | c.1184C>T (p.Thr395Ile) c.*858C>T (n.*858C>T) c.1040C>T (p.Thr347Ile) c.1115C>T (p.Thr372Ile) c.887C>T (p.Thr296Ile) | gnomAD v4 |
| 7 | g.107917411A>C | CA457109500 | DLD | c.1185A>C (p.Thr395=) c.*859A>C (n.*859A>C) c.1041A>C (p.Thr347=) c.1116A>C (p.Thr372=) c.888A>C (p.Thr296=) | |
| 7 | g.107917411A>G | CA457109501 | DLD | c.1185A>G (p.Thr395=) c.*859A>G (n.*859A>G) c.1041A>G (p.Thr347=) c.1116A>G (p.Thr372=) c.888A>G (p.Thr296=) | |
| 7 | g.107917411A>T | CA457109502 | DLD | c.1185A>T (p.Thr395=) c.*859A>T (n.*859A>T) c.1041A>T (p.Thr347=) c.1116A>T (p.Thr372=) c.888A>T (p.Thr296=) | |
| 7 | g.107917411dup | CA2695199608 | DLD | c.1185dup (p.His396ThrfsTer3) c.*859dup (n.*859dup) c.1041dup (p.His348ThrfsTer3) c.1116dup (p.His373ThrfsTer3) c.888dup (p.His297ThrfsTer3) | ClinVar |
| 7 | g.107917412C>A | CA368858482 | DLD | c.1186C>A (p.His396Asn) c.*860C>A (n.*860C>A) c.1042C>A (p.His348Asn) c.1117C>A (p.His373Asn) c.889C>A (p.His297Asn) | |
| 7 | g.107917412C= | CA1732860067 | DLD | c.1186C= (p.His396=) c.*860C= (n.*860C=) c.1042C= (p.His348=) c.1117C= (p.His373=) c.889C= (p.His297=) | |
| 7 | g.107917412C>G | CA368858483 | DLD | c.1186C>G (p.His396Asp) c.*860C>G (n.*860C>G) c.1042C>G (p.His348Asp) c.1117C>G (p.His373Asp) c.889C>G (p.His297Asp) | |
| 7 | g.107917412C>T | CA368858485 | DLD | c.1186C>T (p.His396Tyr) c.*860C>T (n.*860C>T) c.1042C>T (p.His348Tyr) c.1117C>T (p.His373Tyr) c.889C>T (p.His297Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917413A>C | CA368858487 | DLD | c.1187A>C (p.His396Pro) c.*861A>C (n.*861A>C) c.1043A>C (p.His348Pro) c.1118A>C (p.His373Pro) c.890A>C (p.His297Pro) | |
| 7 | g.107917413A>G | CA368858489 | DLD | c.1187A>G (p.His396Arg) c.*861A>G (n.*861A>G) c.1043A>G (p.His348Arg) c.1118A>G (p.His373Arg) c.890A>G (p.His297Arg) | |
| 7 | g.107917413A>T | CA368858488 | DLD | c.1187A>T (p.His396Leu) c.*861A>T (n.*861A>T) c.1043A>T (p.His348Leu) c.1118A>T (p.His373Leu) c.890A>T (p.His297Leu) | |
| 7 | g.107917414C>A | CA4434640 | DLD | c.1188C>A (p.His396Gln) c.*862C>A (n.*862C>A) c.1044C>A (p.His348Gln) c.1119C>A (p.His373Gln) c.891C>A (p.His297Gln) | dbSNP ExAC gnomAD v4 |
| 7 | g.107917414C= | CA1732860068 | DLD | c.1188C= (p.His396=) c.*862C= (n.*862C=) c.1044C= (p.His348=) c.1119C= (p.His373=) c.891C= (p.His297=) | |
| 7 | g.107917414C>G | CA368858491 | DLD | c.1188C>G (p.His396Gln) c.*862C>G (n.*862C>G) c.1044C>G (p.His348Gln) c.1119C>G (p.His373Gln) c.891C>G (p.His297Gln) | |
| 7 | g.107917414C>T | CA4434639 | DLD | c.1188C>T (p.His396=) c.*862C>T (n.*862C>T) c.1044C>T (p.His348=) c.1119C>T (p.His373=) c.891C>T (p.His297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107917415C>A | CA368858493 | DLD | c.1189C>A (p.Pro397Thr) c.*863C>A (n.*863C>A) c.1045C>A (p.Pro349Thr) c.1120C>A (p.Pro374Thr) c.892C>A (p.Pro298Thr) | |
| 7 | g.107917415C>G | CA368858495 | DLD | c.1189C>G (p.Pro397Ala) c.*863C>G (n.*863C>G) c.1045C>G (p.Pro349Ala) c.1120C>G (p.Pro374Ala) c.892C>G (p.Pro298Ala) | |
| 7 | g.107917415C>T | CA368858496 | DLD | c.1189C>T (p.Pro397Ser) c.*863C>T (n.*863C>T) c.1045C>T (p.Pro349Ser) c.1120C>T (p.Pro374Ser) c.892C>T (p.Pro298Ser) | COSMIC COSMIC |
| 7 | g.107917416C>A | CA368858498 | DLD | c.1190C>A (p.Pro397His) c.*864C>A (n.*864C>A) c.1046C>A (p.Pro349His) c.1121C>A (p.Pro374His) c.893C>A (p.Pro298His) | |
| 7 | g.107917416C>G | CA368858499 | DLD | c.1190C>G (p.Pro397Arg) c.*864C>G (n.*864C>G) c.1046C>G (p.Pro349Arg) c.1121C>G (p.Pro374Arg) c.893C>G (p.Pro298Arg) | |
| 7 | g.107917416C>T | CA368858500 | DLD | c.1190C>T (p.Pro397Leu) c.*864C>T (n.*864C>T) c.1046C>T (p.Pro349Leu) c.1121C>T (p.Pro374Leu) c.893C>T (p.Pro298Leu) | |
| 7 | g.107917417T>A | CA457109503 | DLD | c.1191T>A (p.Pro397=) c.*865T>A (n.*865T>A) c.1047T>A (p.Pro349=) c.1122T>A (p.Pro374=) c.894T>A (p.Pro298=) | |
| 7 | g.107917417T>C | CA457109504 | DLD | c.1191T>C (p.Pro397=) c.*865T>C (n.*865T>C) c.1047T>C (p.Pro349=) c.1122T>C (p.Pro374=) c.894T>C (p.Pro298=) | ClinVar dbSNP |
| 7 | g.107917417T>G | CA457109505 | DLD | c.1191T>G (p.Pro397=) c.*865T>G (n.*865T>G) c.1047T>G (p.Pro349=) c.1122T>G (p.Pro374=) c.894T>G (p.Pro298=) | |
| 7 | g.107917418G>A | CA368858502 | DLD | c.1192G>A (p.Glu398Lys) c.*866G>A (n.*866G>A) c.1048G>A (p.Glu350Lys) c.1123G>A (p.Glu375Lys) c.895G>A (p.Glu299Lys) |