| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45329096_45333380delinsTA | CA259818 | ClinVar | ||
| 1 | g.45332465G>A | CA014164 | MUTYH | c.246C>T (p.Asn82=) c.663C>T (p.Asn221=) c.630C>T (p.Asn210=) c.648C>T (p.Asn216=) c.672C>T (p.Asn224=) c.253C>T (p.Arg85Cys) c.*542C>T (n.*542C>T) c.714C>T (p.Asn238=) c.705C>T (p.Asn235=) c.640C>T (p.Arg214Cys) c.*369C>T (n.*369C>T) c.1218C>T (p.Asn406=) c.598C>T (p.Arg200Cys) c.*603C>T (n.*603C>T) c.589C>T (p.Arg197Cys) c.*327C>T (n.*327C>T) c.658C>T (n.658C>T) c.633C>T (p.Asn211=) c.675C>T (p.Asn225=) n.321C>T c.24C>T (p.Asn8=) c.*553C>T (n.*553C>T) c.517C>T (p.Arg173Cys) c.*443C>T (n.*443C>T) n.617C>T c.187+298C>T (n.187+298C>T) c.*281C>T (n.*281C>T) c.115+1926C>T (n.115+1926C>T) c.259C>T (p.Arg87Cys) c.354C>T (p.Asn118=) c.690C>T (p.Asn230=) c.252C>T (p.Asn84=) c.243C>T (p.Asn81=) c.258C>T (p.Asn86=) n.761C>T c.285C>T (p.Asn95=) n.888C>T n.702C>T c.114C>T (p.Asn38=) n.675C>T n.487C>T n.667C>T n.1202C>T n.775C>T n.858C>T n.707C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45332465G>C | CA340134883 | MUTYH | c.246C>G (p.Asn82Lys) c.663C>G (p.Asn221Lys) c.630C>G (p.Asn210Lys) c.648C>G (p.Asn216Lys) c.672C>G (p.Asn224Lys) c.253C>G (p.Arg85Gly) c.*542C>G (n.*542C>G) c.714C>G (p.Asn238Lys) c.705C>G (p.Asn235Lys) c.640C>G (p.Arg214Gly) c.*369C>G (n.*369C>G) c.1218C>G (p.Asn406Lys) c.598C>G (p.Arg200Gly) c.*603C>G (n.*603C>G) c.589C>G (p.Arg197Gly) c.*327C>G (n.*327C>G) c.658C>G (n.658C>G) c.633C>G (p.Asn211Lys) c.675C>G (p.Asn225Lys) n.321C>G c.24C>G (p.Asn8Lys) c.*553C>G (n.*553C>G) c.517C>G (p.Arg173Gly) c.*443C>G (n.*443C>G) n.617C>G c.187+298C>G (n.187+298C>G) c.*281C>G (n.*281C>G) c.115+1926C>G (n.115+1926C>G) c.259C>G (p.Arg87Gly) c.354C>G (p.Asn118Lys) c.690C>G (p.Asn230Lys) c.252C>G (p.Asn84Lys) c.243C>G (p.Asn81Lys) c.258C>G (p.Asn86Lys) n.761C>G c.285C>G (p.Asn95Lys) n.888C>G n.702C>G c.114C>G (p.Asn38Lys) n.675C>G n.487C>G n.667C>G n.1202C>G n.775C>G n.858C>G n.707C>G | dbSNP |
| 1 | g.45332465G= | CA2473712743 | MUTYH | c.246C= (p.Asn82=) c.663C= (p.Asn221=) c.630C= (p.Asn210=) c.648C= (p.Asn216=) c.672C= (p.Asn224=) c.253C= (p.Arg85=) c.*542C= (n.*542C=) c.714C= (p.Asn238=) c.705C= (p.Asn235=) c.640C= (p.Arg214=) c.*369C= (n.*369C=) c.1218C= (p.Asn406=) c.598C= (p.Arg200=) c.*603C= (n.*603C=) c.589C= (p.Arg197=) c.*327C= (n.*327C=) c.658C= (n.658C=) c.633C= (p.Asn211=) c.675C= (p.Asn225=) n.321C= c.24C= (p.Asn8=) c.*553C= (n.*553C=) c.517C= (p.Arg173=) c.*443C= (n.*443C=) n.617C= c.187+298C= (n.187+298C=) c.*281C= (n.*281C=) c.115+1926C= (n.115+1926C=) c.259C= (p.Arg87=) c.354C= (p.Asn118=) c.690C= (p.Asn230=) c.252C= (p.Asn84=) c.243C= (p.Asn81=) c.258C= (p.Asn86=) n.761C= c.285C= (p.Asn95=) n.888C= n.702C= c.114C= (p.Asn38=) n.675C= n.487C= n.667C= n.1202C= n.775C= n.858C= n.707C= | |
| 1 | g.45332465G>T | CA340134885 | MUTYH | c.246C>A (p.Asn82Lys) c.663C>A (p.Asn221Lys) c.630C>A (p.Asn210Lys) c.648C>A (p.Asn216Lys) c.672C>A (p.Asn224Lys) c.253C>A (p.Arg85Ser) c.*542C>A (n.*542C>A) c.714C>A (p.Asn238Lys) c.705C>A (p.Asn235Lys) c.640C>A (p.Arg214Ser) c.*369C>A (n.*369C>A) c.1218C>A (p.Asn406Lys) c.598C>A (p.Arg200Ser) c.*603C>A (n.*603C>A) c.589C>A (p.Arg197Ser) c.*327C>A (n.*327C>A) c.658C>A (n.658C>A) c.633C>A (p.Asn211Lys) c.675C>A (p.Asn225Lys) n.321C>A c.24C>A (p.Asn8Lys) c.*553C>A (n.*553C>A) c.517C>A (p.Arg173Ser) c.*443C>A (n.*443C>A) n.617C>A c.187+298C>A (n.187+298C>A) c.*281C>A (n.*281C>A) c.115+1926C>A (n.115+1926C>A) c.259C>A (p.Arg87Ser) c.354C>A (p.Asn118Lys) c.690C>A (p.Asn230Lys) c.252C>A (p.Asn84Lys) c.243C>A (p.Asn81Lys) c.258C>A (p.Asn86Lys) n.761C>A c.285C>A (p.Asn95Lys) n.888C>A n.702C>A c.114C>A (p.Asn38Lys) n.675C>A n.487C>A n.667C>A n.1202C>A n.775C>A n.858C>A n.707C>A | |
| 1 | g.45332466T>A | CA340134886 | MUTYH | c.245A>T (p.Asn82Ile) c.662A>T (p.Asn221Ile) c.629A>T (p.Asn210Ile) c.647A>T (p.Asn216Ile) c.671A>T (p.Asn224Ile) c.252A>T (p.Gln84His) c.*541A>T (n.*541A>T) c.713A>T (p.Asn238Ile) c.704A>T (p.Asn235Ile) c.639A>T (p.Gln213His) c.*368A>T (n.*368A>T) c.1217A>T (p.Asn406Ile) c.597A>T (p.Gln199His) c.*602A>T (n.*602A>T) c.588A>T (p.Gln196His) c.*326A>T (n.*326A>T) c.657A>T (n.657A>T) c.632A>T (p.Asn211Ile) c.674A>T (p.Asn225Ile) n.320A>T c.23A>T (p.Asn8Ile) c.*552A>T (n.*552A>T) c.516A>T (p.Gln172His) c.*442A>T (n.*442A>T) n.616A>T c.187+297A>T (n.187+297A>T) c.*280A>T (n.*280A>T) c.115+1925A>T (n.115+1925A>T) c.258A>T (p.Gln86His) c.353A>T (p.Asn118Ile) c.689A>T (p.Asn230Ile) c.251A>T (p.Asn84Ile) c.242A>T (p.Asn81Ile) c.257A>T (p.Asn86Ile) n.760A>T c.284A>T (p.Asn95Ile) n.887A>T n.701A>T c.113A>T (p.Asn38Ile) n.674A>T n.486A>T n.666A>T n.1201A>T n.774A>T n.857A>T n.706A>T | |
| 1 | g.45332466T>C | CA16042398 | MUTYH | c.245A>G (p.Asn82Ser) c.662A>G (p.Asn221Ser) c.629A>G (p.Asn210Ser) c.647A>G (p.Asn216Ser) c.671A>G (p.Asn224Ser) c.252A>G (p.Gln84=) c.*541A>G (n.*541A>G) c.713A>G (p.Asn238Ser) c.704A>G (p.Asn235Ser) c.639A>G (p.Gln213=) c.*368A>G (n.*368A>G) c.1217A>G (p.Asn406Ser) c.597A>G (p.Gln199=) c.*602A>G (n.*602A>G) c.588A>G (p.Gln196=) c.*326A>G (n.*326A>G) c.657A>G (n.657A>G) c.632A>G (p.Asn211Ser) c.674A>G (p.Asn225Ser) n.320A>G c.23A>G (p.Asn8Ser) c.*552A>G (n.*552A>G) c.516A>G (p.Gln172=) c.*442A>G (n.*442A>G) n.616A>G c.187+297A>G (n.187+297A>G) c.*280A>G (n.*280A>G) c.115+1925A>G (n.115+1925A>G) c.258A>G (p.Gln86=) c.353A>G (p.Asn118Ser) c.689A>G (p.Asn230Ser) c.251A>G (p.Asn84Ser) c.242A>G (p.Asn81Ser) c.257A>G (p.Asn86Ser) n.760A>G c.284A>G (p.Asn95Ser) n.887A>G n.701A>G c.113A>G (p.Asn38Ser) n.674A>G n.486A>G n.666A>G n.1201A>G n.774A>G n.857A>G n.706A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.45332466T>G | CA16617163 | MUTYH | c.245A>C (p.Asn82Thr) c.662A>C (p.Asn221Thr) c.629A>C (p.Asn210Thr) c.647A>C (p.Asn216Thr) c.671A>C (p.Asn224Thr) c.252A>C (p.Gln84His) c.*541A>C (n.*541A>C) c.713A>C (p.Asn238Thr) c.704A>C (p.Asn235Thr) c.639A>C (p.Gln213His) c.*368A>C (n.*368A>C) c.1217A>C (p.Asn406Thr) c.597A>C (p.Gln199His) c.*602A>C (n.*602A>C) c.588A>C (p.Gln196His) c.*326A>C (n.*326A>C) c.657A>C (n.657A>C) c.632A>C (p.Asn211Thr) c.674A>C (p.Asn225Thr) n.320A>C c.23A>C (p.Asn8Thr) c.*552A>C (n.*552A>C) c.516A>C (p.Gln172His) c.*442A>C (n.*442A>C) n.616A>C c.187+297A>C (n.187+297A>C) c.*280A>C (n.*280A>C) c.115+1925A>C (n.115+1925A>C) c.258A>C (p.Gln86His) c.353A>C (p.Asn118Thr) c.689A>C (p.Asn230Thr) c.251A>C (p.Asn84Thr) c.242A>C (p.Asn81Thr) c.257A>C (p.Asn86Thr) n.760A>C c.284A>C (p.Asn95Thr) n.887A>C n.701A>C c.113A>C (p.Asn38Thr) n.674A>C n.486A>C n.666A>C n.1201A>C n.774A>C n.857A>C n.706A>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.45332466T= | CA2473712744 | MUTYH | c.245A= (p.Asn82=) c.662A= (p.Asn221=) c.629A= (p.Asn210=) c.647A= (p.Asn216=) c.671A= (p.Asn224=) c.252A= (p.Gln84=) c.*541A= (n.*541A=) c.713A= (p.Asn238=) c.704A= (p.Asn235=) c.639A= (p.Gln213=) c.*368A= (n.*368A=) c.1217A= (p.Asn406=) c.597A= (p.Gln199=) c.*602A= (n.*602A=) c.588A= (p.Gln196=) c.*326A= (n.*326A=) c.657A= (n.657A=) c.632A= (p.Asn211=) c.674A= (p.Asn225=) n.320A= c.23A= (p.Asn8=) c.*552A= (n.*552A=) c.516A= (p.Gln172=) c.*442A= (n.*442A=) n.616A= c.187+297A= (n.187+297A=) c.*280A= (n.*280A=) c.115+1925A= (n.115+1925A=) c.258A= (p.Gln86=) c.353A= (p.Asn118=) c.689A= (p.Asn230=) c.251A= (p.Asn84=) c.242A= (p.Asn81=) c.257A= (p.Asn86=) n.760A= c.284A= (p.Asn95=) n.887A= n.701A= c.113A= (p.Asn38=) n.674A= n.486A= n.666A= n.1201A= n.774A= n.857A= n.706A= | |
| 1 | g.45332467T>A | CA340134890 | MUTYH | c.244A>T (p.Asn82Tyr) c.661A>T (p.Asn221Tyr) c.628A>T (p.Asn210Tyr) c.646A>T (p.Asn216Tyr) c.670A>T (p.Asn224Tyr) c.251A>T (p.Gln84Leu) c.*540A>T (n.*540A>T) c.712A>T (p.Asn238Tyr) c.703A>T (p.Asn235Tyr) c.638A>T (p.Gln213Leu) c.*367A>T (n.*367A>T) c.1216A>T (p.Asn406Tyr) c.596A>T (p.Gln199Leu) c.*601A>T (n.*601A>T) c.587A>T (p.Gln196Leu) c.*325A>T (n.*325A>T) c.656A>T (n.656A>T) c.631A>T (p.Asn211Tyr) c.673A>T (p.Asn225Tyr) n.319A>T c.22A>T (p.Asn8Tyr) c.*551A>T (n.*551A>T) c.515A>T (p.Gln172Leu) c.*441A>T (n.*441A>T) n.615A>T c.187+296A>T (n.187+296A>T) c.*279A>T (n.*279A>T) c.115+1924A>T (n.115+1924A>T) c.257A>T (p.Gln86Leu) c.352A>T (p.Asn118Tyr) c.688A>T (p.Asn230Tyr) c.250A>T (p.Asn84Tyr) c.241A>T (p.Asn81Tyr) c.256A>T (p.Asn86Tyr) n.759A>T c.283A>T (p.Asn95Tyr) n.886A>T n.700A>T c.112A>T (p.Asn38Tyr) n.673A>T n.485A>T n.665A>T n.1200A>T n.773A>T n.856A>T n.705A>T | |
| 1 | g.45332467T>C | CA340134891 | MUTYH | c.244A>G (p.Asn82Asp) c.661A>G (p.Asn221Asp) c.628A>G (p.Asn210Asp) c.646A>G (p.Asn216Asp) c.670A>G (p.Asn224Asp) c.251A>G (p.Gln84Arg) c.*540A>G (n.*540A>G) c.712A>G (p.Asn238Asp) c.703A>G (p.Asn235Asp) c.638A>G (p.Gln213Arg) c.*367A>G (n.*367A>G) c.1216A>G (p.Asn406Asp) c.596A>G (p.Gln199Arg) c.*601A>G (n.*601A>G) c.587A>G (p.Gln196Arg) c.*325A>G (n.*325A>G) c.656A>G (n.656A>G) c.631A>G (p.Asn211Asp) c.673A>G (p.Asn225Asp) n.319A>G c.22A>G (p.Asn8Asp) c.*551A>G (n.*551A>G) c.515A>G (p.Gln172Arg) c.*441A>G (n.*441A>G) n.615A>G c.187+296A>G (n.187+296A>G) c.*279A>G (n.*279A>G) c.115+1924A>G (n.115+1924A>G) c.257A>G (p.Gln86Arg) c.352A>G (p.Asn118Asp) c.688A>G (p.Asn230Asp) c.250A>G (p.Asn84Asp) c.241A>G (p.Asn81Asp) c.256A>G (p.Asn86Asp) n.759A>G c.283A>G (p.Asn95Asp) n.886A>G n.700A>G c.112A>G (p.Asn38Asp) n.673A>G n.485A>G n.665A>G n.1200A>G n.773A>G n.856A>G n.705A>G | |
| 1 | g.45332467T>G | CA340134889 | MUTYH | c.244A>C (p.Asn82His) c.661A>C (p.Asn221His) c.628A>C (p.Asn210His) c.646A>C (p.Asn216His) c.670A>C (p.Asn224His) c.251A>C (p.Gln84Pro) c.*540A>C (n.*540A>C) c.712A>C (p.Asn238His) c.703A>C (p.Asn235His) c.638A>C (p.Gln213Pro) c.*367A>C (n.*367A>C) c.1216A>C (p.Asn406His) c.596A>C (p.Gln199Pro) c.*601A>C (n.*601A>C) c.587A>C (p.Gln196Pro) c.*325A>C (n.*325A>C) c.656A>C (n.656A>C) c.631A>C (p.Asn211His) c.673A>C (p.Asn225His) n.319A>C c.22A>C (p.Asn8His) c.*551A>C (n.*551A>C) c.515A>C (p.Gln172Pro) c.*441A>C (n.*441A>C) n.615A>C c.187+296A>C (n.187+296A>C) c.*279A>C (n.*279A>C) c.115+1924A>C (n.115+1924A>C) c.257A>C (p.Gln86Pro) c.352A>C (p.Asn118His) c.688A>C (p.Asn230His) c.250A>C (p.Asn84His) c.241A>C (p.Asn81His) c.256A>C (p.Asn86His) n.759A>C c.283A>C (p.Asn95His) n.886A>C n.700A>C c.112A>C (p.Asn38His) n.673A>C n.485A>C n.665A>C n.1200A>C n.773A>C n.856A>C n.705A>C | |
| 1 | g.45332467_45332468delinsTG | CA2473712745 | MUTYH | c.243_244delinsCA (p.Gly81=) c.660_661delinsCA (p.Gly220=) c.627_628delinsCA (p.Gly209=) c.645_646delinsCA (p.Gly215=) c.669_670delinsCA (p.Gly223=) c.250_251delinsCA (p.Gln84=) c.*539_*540delinsCA (n.*539_*540delinsCA) c.711_712delinsCA (p.Gly237=) c.702_703delinsCA (p.Gly234=) c.637_638delinsCA (p.Gln213=) c.*366_*367delinsCA (n.*366_*367delinsCA) c.1215_1216delinsCA (p.Gly405=) c.595_596delinsCA (p.Gln199=) c.*600_*601delinsCA (n.*600_*601delinsCA) c.586_587delinsCA (p.Gln196=) c.*324_*325delinsCA (n.*324_*325delinsCA) c.655_656delinsCA (n.655_656delinsCA) c.630_631delinsCA (p.Gly210=) c.672_673delinsCA (p.Gly224=) n.318_319delinsCA c.21_22delinsCA (p.Gly7=) c.*550_*551delinsCA (n.*550_*551delinsCA) c.514_515delinsCA (p.Gln172=) c.*440_*441delinsCA (n.*440_*441delinsCA) n.614_615delinsCA c.187+295_187+296delinsCA (n.187+295_187+296delinsCA) c.*278_*279delinsCA (n.*278_*279delinsCA) c.115+1923_115+1924delinsCA (n.115+1923_115+1924delinsCA) c.256_257delinsCA (p.Gln86=) c.351_352delinsCA (p.Gly117=) c.687_688delinsCA (p.Gly229=) c.249_250delinsCA (p.Gly83=) c.240_241delinsCA (p.Gly80=) c.255_256delinsCA (p.Gly85=) n.758_759delinsCA c.282_283delinsCA (p.Gly94=) n.885_886delinsCA n.699_700delinsCA c.111_112delinsCA (p.Gly37=) n.672_673delinsCA n.484_485delinsCA n.664_665delinsCA n.1199_1200delinsCA n.772_773delinsCA n.855_856delinsCA n.704_705delinsCA | |
| 1 | g.45332468del | CA2473712746 | MUTYH | c.243del (p.Asn82ThrfsTer2) c.660del (p.Asn221ThrfsTer2) c.627del (p.Asn210ThrfsTer2) c.645del (p.Asn216ThrfsTer2) c.669del (p.Asn224ThrfsTer2) c.250del (p.Gln84AsnfsTer?) c.*539del (n.*539del) c.711del (p.Asn238ThrfsTer2) c.702del (p.Asn235ThrfsTer2) c.637del (p.Gln213AsnfsTer?) c.*366del (n.*366del) c.1215del (p.Asn406ThrfsTer2) c.595del (p.Gln199AsnfsTer?) c.*600del (n.*600del) c.586del (p.Gln196AsnfsTer?) c.*324del (n.*324del) c.655del (n.655del) c.630del (p.Asn211ThrfsTer2) c.672del (p.Asn225ThrfsTer2) n.318del c.21del (p.Asn8ThrfsTer2) c.*550del (n.*550del) c.514del (p.Gln172AsnfsTer?) c.*440del (n.*440del) n.614del c.187+295del (n.187+295del) c.*278del (n.*278del) c.115+1923del (n.115+1923del) c.256del (p.Gln86AsnfsTer?) c.351del (p.Asn118ThrfsTer2) c.687del (p.Asn230ThrfsTer2) c.249del (p.Asn84ThrfsTer2) c.240del (p.Asn81ThrfsTer2) c.255del (p.Asn86ThrfsTer2) n.758del c.282del (p.Asn95ThrfsTer2) n.885del n.699del c.111del (p.Asn38ThrfsTer2) n.672del n.484del n.664del n.1199del n.772del n.855del n.704del | ClinVar dbSNP |
| 1 | g.45332468G>A | CA417880269 | MUTYH | c.243C>T (p.Gly81=) c.660C>T (p.Gly220=) c.627C>T (p.Gly209=) c.645C>T (p.Gly215=) c.669C>T (p.Gly223=) c.250C>T (p.Gln84Ter) c.*539C>T (n.*539C>T) c.711C>T (p.Gly237=) c.702C>T (p.Gly234=) c.637C>T (p.Gln213Ter) c.*366C>T (n.*366C>T) c.1215C>T (p.Gly405=) c.595C>T (p.Gln199Ter) c.*600C>T (n.*600C>T) c.586C>T (p.Gln196Ter) c.*324C>T (n.*324C>T) c.655C>T (n.655C>T) c.630C>T (p.Gly210=) c.672C>T (p.Gly224=) n.318C>T c.21C>T (p.Gly7=) c.*550C>T (n.*550C>T) c.514C>T (p.Gln172Ter) c.*440C>T (n.*440C>T) n.614C>T c.187+295C>T (n.187+295C>T) c.*278C>T (n.*278C>T) c.115+1923C>T (n.115+1923C>T) c.256C>T (p.Gln86Ter) c.351C>T (p.Gly117=) c.687C>T (p.Gly229=) c.249C>T (p.Gly83=) c.240C>T (p.Gly80=) c.255C>T (p.Gly85=) n.758C>T c.282C>T (p.Gly94=) n.885C>T n.699C>T c.111C>T (p.Gly37=) n.672C>T n.484C>T n.664C>T n.1199C>T n.772C>T n.855C>T n.704C>T | dbSNP gnomAD v4 |
| 1 | g.45332468G>C | CA417880268 | MUTYH | c.243C>G (p.Gly81=) c.660C>G (p.Gly220=) c.627C>G (p.Gly209=) c.645C>G (p.Gly215=) c.669C>G (p.Gly223=) c.250C>G (p.Gln84Glu) c.*539C>G (n.*539C>G) c.711C>G (p.Gly237=) c.702C>G (p.Gly234=) c.637C>G (p.Gln213Glu) c.*366C>G (n.*366C>G) c.1215C>G (p.Gly405=) c.595C>G (p.Gln199Glu) c.*600C>G (n.*600C>G) c.586C>G (p.Gln196Glu) c.*324C>G (n.*324C>G) c.655C>G (n.655C>G) c.630C>G (p.Gly210=) c.672C>G (p.Gly224=) n.318C>G c.21C>G (p.Gly7=) c.*550C>G (n.*550C>G) c.514C>G (p.Gln172Glu) c.*440C>G (n.*440C>G) n.614C>G c.187+295C>G (n.187+295C>G) c.*278C>G (n.*278C>G) c.115+1923C>G (n.115+1923C>G) c.256C>G (p.Gln86Glu) c.351C>G (p.Gly117=) c.687C>G (p.Gly229=) c.249C>G (p.Gly83=) c.240C>G (p.Gly80=) c.255C>G (p.Gly85=) n.758C>G c.282C>G (p.Gly94=) n.885C>G n.699C>G c.111C>G (p.Gly37=) n.672C>G n.484C>G n.664C>G n.1199C>G n.772C>G n.855C>G n.704C>G | |
| 1 | g.45332468G>T | CA417880267 | MUTYH | c.243C>A (p.Gly81=) c.660C>A (p.Gly220=) c.627C>A (p.Gly209=) c.645C>A (p.Gly215=) c.669C>A (p.Gly223=) c.250C>A (p.Gln84Lys) c.*539C>A (n.*539C>A) c.711C>A (p.Gly237=) c.702C>A (p.Gly234=) c.637C>A (p.Gln213Lys) c.*366C>A (n.*366C>A) c.1215C>A (p.Gly405=) c.595C>A (p.Gln199Lys) c.*600C>A (n.*600C>A) c.586C>A (p.Gln196Lys) c.*324C>A (n.*324C>A) c.655C>A (n.655C>A) c.630C>A (p.Gly210=) c.672C>A (p.Gly224=) n.318C>A c.21C>A (p.Gly7=) c.*550C>A (n.*550C>A) c.514C>A (p.Gln172Lys) c.*440C>A (n.*440C>A) n.614C>A c.187+295C>A (n.187+295C>A) c.*278C>A (n.*278C>A) c.115+1923C>A (n.115+1923C>A) c.256C>A (p.Gln86Lys) c.351C>A (p.Gly117=) c.687C>A (p.Gly229=) c.249C>A (p.Gly83=) c.240C>A (p.Gly80=) c.255C>A (p.Gly85=) n.758C>A c.282C>A (p.Gly94=) n.885C>A n.699C>A c.111C>A (p.Gly37=) n.672C>A n.484C>A n.664C>A n.1199C>A n.772C>A n.855C>A n.704C>A | |
| 1 | g.45332469C>A | CA340134893 | MUTYH | c.242G>T (p.Gly81Val) c.659G>T (p.Gly220Val) c.626G>T (p.Gly209Val) c.644G>T (p.Gly215Val) c.668G>T (p.Gly223Val) c.249G>T (p.Trp83Cys) c.*538G>T (n.*538G>T) c.710G>T (p.Gly237Val) c.701G>T (p.Gly234Val) c.636G>T (p.Trp212Cys) c.*365G>T (n.*365G>T) c.1214G>T (p.Gly405Val) c.594G>T (p.Trp198Cys) c.*599G>T (n.*599G>T) c.585G>T (p.Trp195Cys) c.*323G>T (n.*323G>T) c.654G>T (n.654G>T) c.629G>T (p.Gly210Val) c.671G>T (p.Gly224Val) n.317G>T c.20G>T (p.Gly7Val) c.*549G>T (n.*549G>T) c.513G>T (p.Trp171Cys) c.*439G>T (n.*439G>T) n.613G>T c.187+294G>T (n.187+294G>T) c.*277G>T (n.*277G>T) c.115+1922G>T (n.115+1922G>T) c.255G>T (p.Trp85Cys) c.350G>T (p.Gly117Val) c.686G>T (p.Gly229Val) c.248G>T (p.Gly83Val) c.239G>T (p.Gly80Val) c.254G>T (p.Gly85Val) n.757G>T c.281G>T (p.Gly94Val) n.884G>T n.698G>T c.110G>T (p.Gly37Val) n.671G>T n.483G>T n.663G>T n.1198G>T n.771G>T n.854G>T n.703G>T | |
| 1 | g.45332469C= | CA2473712747 | MUTYH | c.242G= (p.Gly81=) c.659G= (p.Gly220=) c.626G= (p.Gly209=) c.644G= (p.Gly215=) c.668G= (p.Gly223=) c.249G= (p.Trp83=) c.*538G= (n.*538G=) c.710G= (p.Gly237=) c.701G= (p.Gly234=) c.636G= (p.Trp212=) c.*365G= (n.*365G=) c.1214G= (p.Gly405=) c.594G= (p.Trp198=) c.*599G= (n.*599G=) c.585G= (p.Trp195=) c.*323G= (n.*323G=) c.654G= (n.654G=) c.629G= (p.Gly210=) c.671G= (p.Gly224=) n.317G= c.20G= (p.Gly7=) c.*549G= (n.*549G=) c.513G= (p.Trp171=) c.*439G= (n.*439G=) n.613G= c.187+294G= (n.187+294G=) c.*277G= (n.*277G=) c.115+1922G= (n.115+1922G=) c.255G= (p.Trp85=) c.350G= (p.Gly117=) c.686G= (p.Gly229=) c.248G= (p.Gly83=) c.239G= (p.Gly80=) c.254G= (p.Gly85=) n.757G= c.281G= (p.Gly94=) n.884G= n.698G= c.110G= (p.Gly37=) n.671G= n.483G= n.663G= n.1198G= n.771G= n.854G= n.703G= | |
| 1 | g.45332469C>G | CA340134897 | MUTYH | c.242G>C (p.Gly81Ala) c.659G>C (p.Gly220Ala) c.626G>C (p.Gly209Ala) c.644G>C (p.Gly215Ala) c.668G>C (p.Gly223Ala) c.249G>C (p.Trp83Cys) c.*538G>C (n.*538G>C) c.710G>C (p.Gly237Ala) c.701G>C (p.Gly234Ala) c.636G>C (p.Trp212Cys) c.*365G>C (n.*365G>C) c.1214G>C (p.Gly405Ala) c.594G>C (p.Trp198Cys) c.*599G>C (n.*599G>C) c.585G>C (p.Trp195Cys) c.*323G>C (n.*323G>C) c.654G>C (n.654G>C) c.629G>C (p.Gly210Ala) c.671G>C (p.Gly224Ala) n.317G>C c.20G>C (p.Gly7Ala) c.*549G>C (n.*549G>C) c.513G>C (p.Trp171Cys) c.*439G>C (n.*439G>C) n.613G>C c.187+294G>C (n.187+294G>C) c.*277G>C (n.*277G>C) c.115+1922G>C (n.115+1922G>C) c.255G>C (p.Trp85Cys) c.350G>C (p.Gly117Ala) c.686G>C (p.Gly229Ala) c.248G>C (p.Gly83Ala) c.239G>C (p.Gly80Ala) c.254G>C (p.Gly85Ala) n.757G>C c.281G>C (p.Gly94Ala) n.884G>C n.698G>C c.110G>C (p.Gly37Ala) n.671G>C n.483G>C n.663G>C n.1198G>C n.771G>C n.854G>C n.703G>C | |
| 1 | g.45332469C>T | CA340134895 | MUTYH | c.242G>A (p.Gly81Asp) c.659G>A (p.Gly220Asp) c.626G>A (p.Gly209Asp) c.644G>A (p.Gly215Asp) c.668G>A (p.Gly223Asp) c.249G>A (p.Trp83Ter) c.*538G>A (n.*538G>A) c.710G>A (p.Gly237Asp) c.701G>A (p.Gly234Asp) c.636G>A (p.Trp212Ter) c.*365G>A (n.*365G>A) c.1214G>A (p.Gly405Asp) c.594G>A (p.Trp198Ter) c.*599G>A (n.*599G>A) c.585G>A (p.Trp195Ter) c.*323G>A (n.*323G>A) c.654G>A (n.654G>A) c.629G>A (p.Gly210Asp) c.671G>A (p.Gly224Asp) n.317G>A c.20G>A (p.Gly7Asp) c.*549G>A (n.*549G>A) c.513G>A (p.Trp171Ter) c.*439G>A (n.*439G>A) n.613G>A c.187+294G>A (n.187+294G>A) c.*277G>A (n.*277G>A) c.115+1922G>A (n.115+1922G>A) c.255G>A (p.Trp85Ter) c.350G>A (p.Gly117Asp) c.686G>A (p.Gly229Asp) c.248G>A (p.Gly83Asp) c.239G>A (p.Gly80Asp) c.254G>A (p.Gly85Asp) n.757G>A c.281G>A (p.Gly94Asp) n.884G>A n.698G>A c.110G>A (p.Gly37Asp) n.671G>A n.483G>A n.663G>A n.1198G>A n.771G>A n.854G>A n.703G>A | ClinVar dbSNP |
| 1 | g.45332470C>A | CA340134898 | MUTYH | c.241G>T (p.Gly81Cys) c.658G>T (p.Gly220Cys) c.625G>T (p.Gly209Cys) c.643G>T (p.Gly215Cys) c.667G>T (p.Gly223Cys) c.248G>T (p.Trp83Leu) c.*537G>T (n.*537G>T) c.709G>T (p.Gly237Cys) c.700G>T (p.Gly234Cys) c.635G>T (p.Trp212Leu) c.*364G>T (n.*364G>T) c.1213G>T (p.Gly405Cys) c.593G>T (p.Trp198Leu) c.*598G>T (n.*598G>T) c.584G>T (p.Trp195Leu) c.*322G>T (n.*322G>T) c.653G>T (n.653G>T) c.628G>T (p.Gly210Cys) c.670G>T (p.Gly224Cys) n.316G>T c.19G>T (p.Gly7Cys) c.*548G>T (n.*548G>T) c.512G>T (p.Trp171Leu) c.*438G>T (n.*438G>T) n.612G>T c.187+293G>T (n.187+293G>T) c.*276G>T (n.*276G>T) c.115+1921G>T (n.115+1921G>T) c.254G>T (p.Trp85Leu) c.349G>T (p.Gly117Cys) c.685G>T (p.Gly229Cys) c.247G>T (p.Gly83Cys) c.238G>T (p.Gly80Cys) c.253G>T (p.Gly85Cys) n.756G>T c.280G>T (p.Gly94Cys) n.883G>T n.697G>T c.109G>T (p.Gly37Cys) n.670G>T n.482G>T n.662G>T n.1197G>T n.770G>T n.853G>T n.702G>T | |
| 1 | g.45332470C= | CA2473712748 | MUTYH | c.241G= (p.Gly81=) c.658G= (p.Gly220=) c.625G= (p.Gly209=) c.643G= (p.Gly215=) c.667G= (p.Gly223=) c.248G= (p.Trp83=) c.*537G= (n.*537G=) c.709G= (p.Gly237=) c.700G= (p.Gly234=) c.635G= (p.Trp212=) c.*364G= (n.*364G=) c.1213G= (p.Gly405=) c.593G= (p.Trp198=) c.*598G= (n.*598G=) c.584G= (p.Trp195=) c.*322G= (n.*322G=) c.653G= (n.653G=) c.628G= (p.Gly210=) c.670G= (p.Gly224=) n.316G= c.19G= (p.Gly7=) c.*548G= (n.*548G=) c.512G= (p.Trp171=) c.*438G= (n.*438G=) n.612G= c.187+293G= (n.187+293G=) c.*276G= (n.*276G=) c.115+1921G= (n.115+1921G=) c.254G= (p.Trp85=) c.349G= (p.Gly117=) c.685G= (p.Gly229=) c.247G= (p.Gly83=) c.238G= (p.Gly80=) c.253G= (p.Gly85=) n.756G= c.280G= (p.Gly94=) n.883G= n.697G= c.109G= (p.Gly37=) n.670G= n.482G= n.662G= n.1197G= n.770G= n.853G= n.702G= | |
| 1 | g.45332470C>G | CA340134901 | MUTYH | c.241G>C (p.Gly81Arg) c.658G>C (p.Gly220Arg) c.625G>C (p.Gly209Arg) c.643G>C (p.Gly215Arg) c.667G>C (p.Gly223Arg) c.248G>C (p.Trp83Ser) c.*537G>C (n.*537G>C) c.709G>C (p.Gly237Arg) c.700G>C (p.Gly234Arg) c.635G>C (p.Trp212Ser) c.*364G>C (n.*364G>C) c.1213G>C (p.Gly405Arg) c.593G>C (p.Trp198Ser) c.*598G>C (n.*598G>C) c.584G>C (p.Trp195Ser) c.*322G>C (n.*322G>C) c.653G>C (n.653G>C) c.628G>C (p.Gly210Arg) c.670G>C (p.Gly224Arg) n.316G>C c.19G>C (p.Gly7Arg) c.*548G>C (n.*548G>C) c.512G>C (p.Trp171Ser) c.*438G>C (n.*438G>C) n.612G>C c.187+293G>C (n.187+293G>C) c.*276G>C (n.*276G>C) c.115+1921G>C (n.115+1921G>C) c.254G>C (p.Trp85Ser) c.349G>C (p.Gly117Arg) c.685G>C (p.Gly229Arg) c.247G>C (p.Gly83Arg) c.238G>C (p.Gly80Arg) c.253G>C (p.Gly85Arg) n.756G>C c.280G>C (p.Gly94Arg) n.883G>C n.697G>C c.109G>C (p.Gly37Arg) n.670G>C n.482G>C n.662G>C n.1197G>C n.770G>C n.853G>C n.702G>C | |
| 1 | g.45332470C>T | CA340134899 | MUTYH | c.241G>A (p.Gly81Ser) c.658G>A (p.Gly220Ser) c.625G>A (p.Gly209Ser) c.643G>A (p.Gly215Ser) c.667G>A (p.Gly223Ser) c.248G>A (p.Trp83Ter) c.*537G>A (n.*537G>A) c.709G>A (p.Gly237Ser) c.700G>A (p.Gly234Ser) c.635G>A (p.Trp212Ter) c.*364G>A (n.*364G>A) c.1213G>A (p.Gly405Ser) c.593G>A (p.Trp198Ter) c.*598G>A (n.*598G>A) c.584G>A (p.Trp195Ter) c.*322G>A (n.*322G>A) c.653G>A (n.653G>A) c.628G>A (p.Gly210Ser) c.670G>A (p.Gly224Ser) n.316G>A c.19G>A (p.Gly7Ser) c.*548G>A (n.*548G>A) c.512G>A (p.Trp171Ter) c.*438G>A (n.*438G>A) n.612G>A c.187+293G>A (n.187+293G>A) c.*276G>A (n.*276G>A) c.115+1921G>A (n.115+1921G>A) c.254G>A (p.Trp85Ter) c.349G>A (p.Gly117Ser) c.685G>A (p.Gly229Ser) c.247G>A (p.Gly83Ser) c.238G>A (p.Gly80Ser) c.253G>A (p.Gly85Ser) n.756G>A c.280G>A (p.Gly94Ser) n.883G>A n.697G>A c.109G>A (p.Gly37Ser) n.670G>A n.482G>A n.662G>A n.1197G>A n.770G>A n.853G>A n.702G>A | ClinVar dbSNP |
| 1 | g.45332471A= | CA2473712749 | MUTYH | c.240T= (p.Asp80=) c.657T= (p.Asp219=) c.624T= (p.Asp208=) c.642T= (p.Asp214=) c.666T= (p.Asp222=) c.247T= (p.Trp83=) c.*536T= (n.*536T=) c.708T= (p.Asp236=) c.699T= (p.Asp233=) c.634T= (p.Trp212=) c.*363T= (n.*363T=) c.1212T= (p.Asp404=) c.592T= (p.Trp198=) c.*597T= (n.*597T=) c.583T= (p.Trp195=) c.*321T= (n.*321T=) c.652T= (n.652T=) c.627T= (p.Asp209=) c.669T= (p.Asp223=) n.315T= c.18T= (p.Asp6=) c.*547T= (n.*547T=) c.511T= (p.Trp171=) c.*437T= (n.*437T=) n.611T= c.187+292T= (n.187+292T=) c.*275T= (n.*275T=) c.115+1920T= (n.115+1920T=) c.253T= (p.Trp85=) c.348T= (p.Asp116=) c.684T= (p.Asp228=) c.246T= (p.Asp82=) c.237T= (p.Asp79=) c.252T= (p.Asp84=) n.755T= c.279T= (p.Asp93=) n.882T= n.696T= c.108T= (p.Asp36=) n.669T= n.481T= n.661T= n.1196T= n.769T= n.852T= n.701T= | |
| 1 | g.45332471A>C | CA340134903 | MUTYH | c.240T>G (p.Asp80Glu) c.657T>G (p.Asp219Glu) c.624T>G (p.Asp208Glu) c.642T>G (p.Asp214Glu) c.666T>G (p.Asp222Glu) c.247T>G (p.Trp83Gly) c.*536T>G (n.*536T>G) c.708T>G (p.Asp236Glu) c.699T>G (p.Asp233Glu) c.634T>G (p.Trp212Gly) c.*363T>G (n.*363T>G) c.1212T>G (p.Asp404Glu) c.592T>G (p.Trp198Gly) c.*597T>G (n.*597T>G) c.583T>G (p.Trp195Gly) c.*321T>G (n.*321T>G) c.652T>G (n.652T>G) c.627T>G (p.Asp209Glu) c.669T>G (p.Asp223Glu) n.315T>G c.18T>G (p.Asp6Glu) c.*547T>G (n.*547T>G) c.511T>G (p.Trp171Gly) c.*437T>G (n.*437T>G) n.611T>G c.187+292T>G (n.187+292T>G) c.*275T>G (n.*275T>G) c.115+1920T>G (n.115+1920T>G) c.253T>G (p.Trp85Gly) c.348T>G (p.Asp116Glu) c.684T>G (p.Asp228Glu) c.246T>G (p.Asp82Glu) c.237T>G (p.Asp79Glu) c.252T>G (p.Asp84Glu) n.755T>G c.279T>G (p.Asp93Glu) n.882T>G n.696T>G c.108T>G (p.Asp36Glu) n.669T>G n.481T>G n.661T>G n.1196T>G n.769T>G n.852T>G n.701T>G | dbSNP |
| 1 | g.45332471A>G | CA417880270 | MUTYH | c.240T>C (p.Asp80=) c.657T>C (p.Asp219=) c.624T>C (p.Asp208=) c.642T>C (p.Asp214=) c.666T>C (p.Asp222=) c.247T>C (p.Trp83Arg) c.*536T>C (n.*536T>C) c.708T>C (p.Asp236=) c.699T>C (p.Asp233=) c.634T>C (p.Trp212Arg) c.*363T>C (n.*363T>C) c.1212T>C (p.Asp404=) c.592T>C (p.Trp198Arg) c.*597T>C (n.*597T>C) c.583T>C (p.Trp195Arg) c.*321T>C (n.*321T>C) c.652T>C (n.652T>C) c.627T>C (p.Asp209=) c.669T>C (p.Asp223=) n.315T>C c.18T>C (p.Asp6=) c.*547T>C (n.*547T>C) c.511T>C (p.Trp171Arg) c.*437T>C (n.*437T>C) n.611T>C c.187+292T>C (n.187+292T>C) c.*275T>C (n.*275T>C) c.115+1920T>C (n.115+1920T>C) c.253T>C (p.Trp85Arg) c.348T>C (p.Asp116=) c.684T>C (p.Asp228=) c.246T>C (p.Asp82=) c.237T>C (p.Asp79=) c.252T>C (p.Asp84=) n.755T>C c.279T>C (p.Asp93=) n.882T>C n.696T>C c.108T>C (p.Asp36=) n.669T>C n.481T>C n.661T>C n.1196T>C n.769T>C n.852T>C n.701T>C | |
| 1 | g.45332471A>T | CA10577725 | MUTYH | c.240T>A (p.Asp80Glu) c.657T>A (p.Asp219Glu) c.624T>A (p.Asp208Glu) c.642T>A (p.Asp214Glu) c.666T>A (p.Asp222Glu) c.247T>A (p.Trp83Arg) c.*536T>A (n.*536T>A) c.708T>A (p.Asp236Glu) c.699T>A (p.Asp233Glu) c.634T>A (p.Trp212Arg) c.*363T>A (n.*363T>A) c.1212T>A (p.Asp404Glu) c.592T>A (p.Trp198Arg) c.*597T>A (n.*597T>A) c.583T>A (p.Trp195Arg) c.*321T>A (n.*321T>A) c.652T>A (n.652T>A) c.627T>A (p.Asp209Glu) c.669T>A (p.Asp223Glu) n.315T>A c.18T>A (p.Asp6Glu) c.*547T>A (n.*547T>A) c.511T>A (p.Trp171Arg) c.*437T>A (n.*437T>A) n.611T>A c.187+292T>A (n.187+292T>A) c.*275T>A (n.*275T>A) c.115+1920T>A (n.115+1920T>A) c.253T>A (p.Trp85Arg) c.348T>A (p.Asp116Glu) c.684T>A (p.Asp228Glu) c.246T>A (p.Asp82Glu) c.237T>A (p.Asp79Glu) c.252T>A (p.Asp84Glu) n.755T>A c.279T>A (p.Asp93Glu) n.882T>A n.696T>A c.108T>A (p.Asp36Glu) n.669T>A n.481T>A n.661T>A n.1196T>A n.769T>A n.852T>A n.701T>A | ClinVar dbSNP |
| 1 | g.45332472T>A | CA340134905 | MUTYH | c.239A>T (p.Asp80Val) c.656A>T (p.Asp219Val) c.623A>T (p.Asp208Val) c.641A>T (p.Asp214Val) c.665A>T (p.Asp222Val) c.246A>T (p.Gly82=) c.*535A>T (n.*535A>T) c.707A>T (p.Asp236Val) c.698A>T (p.Asp233Val) c.633A>T (p.Gly211=) c.*362A>T (n.*362A>T) c.1211A>T (p.Asp404Val) c.591A>T (p.Gly197=) c.*596A>T (n.*596A>T) c.582A>T (p.Gly194=) c.*320A>T (n.*320A>T) c.651A>T (n.651A>T) c.626A>T (p.Asp209Val) c.668A>T (p.Asp223Val) n.314A>T c.17A>T (p.Asp6Val) c.*546A>T (n.*546A>T) c.510A>T (p.Gly170=) c.*436A>T (n.*436A>T) n.610A>T c.187+291A>T (n.187+291A>T) c.*274A>T (n.*274A>T) c.115+1919A>T (n.115+1919A>T) c.252A>T (p.Gly84=) c.347A>T (p.Asp116Val) c.683A>T (p.Asp228Val) c.245A>T (p.Asp82Val) c.236A>T (p.Asp79Val) c.251A>T (p.Asp84Val) n.754A>T c.278A>T (p.Asp93Val) n.881A>T n.695A>T c.107A>T (p.Asp36Val) n.668A>T n.480A>T n.660A>T n.1195A>T n.768A>T n.851A>T n.700A>T | |
| 1 | g.45332472T>C | CA340134907 | MUTYH | c.239A>G (p.Asp80Gly) c.656A>G (p.Asp219Gly) c.623A>G (p.Asp208Gly) c.641A>G (p.Asp214Gly) c.665A>G (p.Asp222Gly) c.246A>G (p.Gly82=) c.*535A>G (n.*535A>G) c.707A>G (p.Asp236Gly) c.698A>G (p.Asp233Gly) c.633A>G (p.Gly211=) c.*362A>G (n.*362A>G) c.1211A>G (p.Asp404Gly) c.591A>G (p.Gly197=) c.*596A>G (n.*596A>G) c.582A>G (p.Gly194=) c.*320A>G (n.*320A>G) c.651A>G (n.651A>G) c.626A>G (p.Asp209Gly) c.668A>G (p.Asp223Gly) n.314A>G c.17A>G (p.Asp6Gly) c.*546A>G (n.*546A>G) c.510A>G (p.Gly170=) c.*436A>G (n.*436A>G) n.610A>G c.187+291A>G (n.187+291A>G) c.*274A>G (n.*274A>G) c.115+1919A>G (n.115+1919A>G) c.252A>G (p.Gly84=) c.347A>G (p.Asp116Gly) c.683A>G (p.Asp228Gly) c.245A>G (p.Asp82Gly) c.236A>G (p.Asp79Gly) c.251A>G (p.Asp84Gly) n.754A>G c.278A>G (p.Asp93Gly) n.881A>G n.695A>G c.107A>G (p.Asp36Gly) n.668A>G n.480A>G n.660A>G n.1195A>G n.768A>G n.851A>G n.700A>G | |
| 1 | g.45332472T>G | CA340134908 | MUTYH | c.239A>C (p.Asp80Ala) c.656A>C (p.Asp219Ala) c.623A>C (p.Asp208Ala) c.641A>C (p.Asp214Ala) c.665A>C (p.Asp222Ala) c.246A>C (p.Gly82=) c.*535A>C (n.*535A>C) c.707A>C (p.Asp236Ala) c.698A>C (p.Asp233Ala) c.633A>C (p.Gly211=) c.*362A>C (n.*362A>C) c.1211A>C (p.Asp404Ala) c.591A>C (p.Gly197=) c.*596A>C (n.*596A>C) c.582A>C (p.Gly194=) c.*320A>C (n.*320A>C) c.651A>C (n.651A>C) c.626A>C (p.Asp209Ala) c.668A>C (p.Asp223Ala) n.314A>C c.17A>C (p.Asp6Ala) c.*546A>C (n.*546A>C) c.510A>C (p.Gly170=) c.*436A>C (n.*436A>C) n.610A>C c.187+291A>C (n.187+291A>C) c.*274A>C (n.*274A>C) c.115+1919A>C (n.115+1919A>C) c.252A>C (p.Gly84=) c.347A>C (p.Asp116Ala) c.683A>C (p.Asp228Ala) c.245A>C (p.Asp82Ala) c.236A>C (p.Asp79Ala) c.251A>C (p.Asp84Ala) n.754A>C c.278A>C (p.Asp93Ala) n.881A>C n.695A>C c.107A>C (p.Asp36Ala) n.668A>C n.480A>C n.660A>C n.1195A>C n.768A>C n.851A>C n.700A>C | |
| 1 | g.45332472_45332475delinsTCCA | CA2473712750 | MUTYH | c.236_239delinsTGGA (p.Val79=) c.653_656delinsTGGA (p.Val218=) c.620_623delinsTGGA (p.Val207=) c.638_641delinsTGGA (p.Val213=) c.662_665delinsTGGA (p.Val221=) c.243_246delinsTGGA (p.Gly81=) c.*532_*535delinsTGGA (n.*532_*535delinsTGGA) c.704_707delinsTGGA (p.Val235=) c.695_698delinsTGGA (p.Val232=) c.630_633delinsTGGA (p.Gly210=) c.*359_*362delinsTGGA (n.*359_*362delinsTGGA) c.1208_1211delinsTGGA (p.Val403=) c.588_591delinsTGGA (p.Gly196=) c.*593_*596delinsTGGA (n.*593_*596delinsTGGA) c.579_582delinsTGGA (p.Gly193=) c.*317_*320delinsTGGA (n.*317_*320delinsTGGA) c.648_651delinsTGGA (n.648_651delinsTGGA) c.623_626delinsTGGA (p.Val208=) c.665_668delinsTGGA (p.Val222=) n.311_314delinsTGGA c.14_17delinsTGGA (p.Val5=) c.*543_*546delinsTGGA (n.*543_*546delinsTGGA) c.507_510delinsTGGA (p.Gly169=) c.*433_*436delinsTGGA (n.*433_*436delinsTGGA) n.607_610delinsTGGA c.187+288_187+291delinsTGGA (n.187+288_187+291delinsTGGA) c.*271_*274delinsTGGA (n.*271_*274delinsTGGA) c.115+1916_115+1919delinsTGGA (n.115+1916_115+1919delinsTGGA) c.249_252delinsTGGA (p.Gly83=) c.344_347delinsTGGA (p.Val115=) c.680_683delinsTGGA (p.Val227=) c.242_245delinsTGGA (p.Val81=) c.233_236delinsTGGA (p.Val78=) c.248_251delinsTGGA (p.Val83=) n.751_754delinsTGGA c.275_278delinsTGGA (p.Val92=) n.878_881delinsTGGA n.692_695delinsTGGA c.104_107delinsTGGA (p.Val35=) n.665_668delinsTGGA n.477_480delinsTGGA n.657_660delinsTGGA n.1192_1195delinsTGGA n.765_768delinsTGGA n.848_851delinsTGGA n.697_700delinsTGGA | |
| 1 | g.45332473C>A | CA340134910 | MUTYH | c.238G>T (p.Asp80Tyr) c.655G>T (p.Asp219Tyr) c.622G>T (p.Asp208Tyr) c.640G>T (p.Asp214Tyr) c.664G>T (p.Asp222Tyr) c.245G>T (p.Gly82Val) c.*534G>T (n.*534G>T) c.706G>T (p.Asp236Tyr) c.697G>T (p.Asp233Tyr) c.632G>T (p.Gly211Val) c.*361G>T (n.*361G>T) c.1210G>T (p.Asp404Tyr) c.590G>T (p.Gly197Val) c.*595G>T (n.*595G>T) c.581G>T (p.Gly194Val) c.*319G>T (n.*319G>T) c.650G>T (n.650G>T) c.625G>T (p.Asp209Tyr) c.667G>T (p.Asp223Tyr) n.313G>T c.16G>T (p.Asp6Tyr) c.*545G>T (n.*545G>T) c.509G>T (p.Gly170Val) c.*435G>T (n.*435G>T) n.609G>T c.187+290G>T (n.187+290G>T) c.*273G>T (n.*273G>T) c.115+1918G>T (n.115+1918G>T) c.251G>T (p.Gly84Val) c.346G>T (p.Asp116Tyr) c.682G>T (p.Asp228Tyr) c.244G>T (p.Asp82Tyr) c.235G>T (p.Asp79Tyr) c.250G>T (p.Asp84Tyr) n.753G>T c.277G>T (p.Asp93Tyr) n.880G>T n.694G>T c.106G>T (p.Asp36Tyr) n.667G>T n.479G>T n.659G>T n.1194G>T n.767G>T n.850G>T n.699G>T | |
| 1 | g.45332473C= | CA2473712751 | MUTYH | c.238G= (p.Asp80=) c.655G= (p.Asp219=) c.622G= (p.Asp208=) c.640G= (p.Asp214=) c.664G= (p.Asp222=) c.245G= (p.Gly82=) c.*534G= (n.*534G=) c.706G= (p.Asp236=) c.697G= (p.Asp233=) c.632G= (p.Gly211=) c.*361G= (n.*361G=) c.1210G= (p.Asp404=) c.590G= (p.Gly197=) c.*595G= (n.*595G=) c.581G= (p.Gly194=) c.*319G= (n.*319G=) c.650G= (n.650G=) c.625G= (p.Asp209=) c.667G= (p.Asp223=) n.313G= c.16G= (p.Asp6=) c.*545G= (n.*545G=) c.509G= (p.Gly170=) c.*435G= (n.*435G=) n.609G= c.187+290G= (n.187+290G=) c.*273G= (n.*273G=) c.115+1918G= (n.115+1918G=) c.251G= (p.Gly84=) c.346G= (p.Asp116=) c.682G= (p.Asp228=) c.244G= (p.Asp82=) c.235G= (p.Asp79=) c.250G= (p.Asp84=) n.753G= c.277G= (p.Asp93=) n.880G= n.694G= c.106G= (p.Asp36=) n.667G= n.479G= n.659G= n.1194G= n.767G= n.850G= n.699G= | |
| 1 | g.45332473C>G | CA340134911 | MUTYH | c.238G>C (p.Asp80His) c.655G>C (p.Asp219His) c.622G>C (p.Asp208His) c.640G>C (p.Asp214His) c.664G>C (p.Asp222His) c.245G>C (p.Gly82Ala) c.*534G>C (n.*534G>C) c.706G>C (p.Asp236His) c.697G>C (p.Asp233His) c.632G>C (p.Gly211Ala) c.*361G>C (n.*361G>C) c.1210G>C (p.Asp404His) c.590G>C (p.Gly197Ala) c.*595G>C (n.*595G>C) c.581G>C (p.Gly194Ala) c.*319G>C (n.*319G>C) c.650G>C (n.650G>C) c.625G>C (p.Asp209His) c.667G>C (p.Asp223His) n.313G>C c.16G>C (p.Asp6His) c.*545G>C (n.*545G>C) c.509G>C (p.Gly170Ala) c.*435G>C (n.*435G>C) n.609G>C c.187+290G>C (n.187+290G>C) c.*273G>C (n.*273G>C) c.115+1918G>C (n.115+1918G>C) c.251G>C (p.Gly84Ala) c.346G>C (p.Asp116His) c.682G>C (p.Asp228His) c.244G>C (p.Asp82His) c.235G>C (p.Asp79His) c.250G>C (p.Asp84His) n.753G>C c.277G>C (p.Asp93His) n.880G>C n.694G>C c.106G>C (p.Asp36His) n.667G>C n.479G>C n.659G>C n.1194G>C n.767G>C n.850G>C n.699G>C | |
| 1 | g.45332473C>T | CA340134913 | MUTYH | c.238G>A (p.Asp80Asn) c.655G>A (p.Asp219Asn) c.622G>A (p.Asp208Asn) c.640G>A (p.Asp214Asn) c.664G>A (p.Asp222Asn) c.245G>A (p.Gly82Glu) c.*534G>A (n.*534G>A) c.706G>A (p.Asp236Asn) c.697G>A (p.Asp233Asn) c.632G>A (p.Gly211Glu) c.*361G>A (n.*361G>A) c.1210G>A (p.Asp404Asn) c.590G>A (p.Gly197Glu) c.*595G>A (n.*595G>A) c.581G>A (p.Gly194Glu) c.*319G>A (n.*319G>A) c.650G>A (n.650G>A) c.625G>A (p.Asp209Asn) c.667G>A (p.Asp223Asn) n.313G>A c.16G>A (p.Asp6Asn) c.*545G>A (n.*545G>A) c.509G>A (p.Gly170Glu) c.*435G>A (n.*435G>A) n.609G>A c.187+290G>A (n.187+290G>A) c.*273G>A (n.*273G>A) c.115+1918G>A (n.115+1918G>A) c.251G>A (p.Gly84Glu) c.346G>A (p.Asp116Asn) c.682G>A (p.Asp228Asn) c.244G>A (p.Asp82Asn) c.235G>A (p.Asp79Asn) c.250G>A (p.Asp84Asn) n.753G>A c.277G>A (p.Asp93Asn) n.880G>A n.694G>A c.106G>A (p.Asp36Asn) n.667G>A n.479G>A n.659G>A n.1194G>A n.767G>A n.850G>A n.699G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.45332477_45332479del | CA915941274 | MUTYH | c.236_238del (p.Val79del) c.653_655del (p.Val218del) c.620_622del (p.Val207del) c.638_640del (p.Val213del) c.662_664del (p.Val221del) c.243_245del (p.Gly82del) c.*532_*534del (n.*532_*534del) c.704_706del (p.Val235del) c.695_697del (p.Val232del) c.630_632del (p.Gly211del) c.*359_*361del (n.*359_*361del) c.1208_1210del (p.Val403del) c.588_590del (p.Gly197del) c.*593_*595del (n.*593_*595del) c.579_581del (p.Gly194del) c.*317_*319del (n.*317_*319del) c.648_650del (n.648_650del) c.623_625del (p.Val208del) c.665_667del (p.Val222del) n.311_313del c.14_16del (p.Val5del) c.*543_*545del (n.*543_*545del) c.507_509del (p.Gly170del) c.*433_*435del (n.*433_*435del) n.607_609del c.187+288_187+290del (n.187+288_187+290del) c.*271_*273del (n.*271_*273del) c.115+1916_115+1918del (n.115+1916_115+1918del) c.249_251del (p.Gly84del) c.344_346del (p.Val115del) c.680_682del (p.Val227del) c.242_244del (p.Val81del) c.233_235del (p.Val78del) c.248_250del (p.Val83del) n.751_753del c.275_277del (p.Val92del) n.878_880del n.692_694del c.104_106del (p.Val35del) n.665_667del n.477_479del n.657_659del n.1192_1194del n.765_767del n.848_850del n.697_699del | ClinVar dbSNP |
| 1 | g.45332474C>A | CA417880271 | MUTYH | c.237G>T (p.Val79=) c.654G>T (p.Val218=) c.621G>T (p.Val207=) c.639G>T (p.Val213=) c.663G>T (p.Val221=) c.244G>T (p.Gly82Ter) c.*533G>T (n.*533G>T) c.705G>T (p.Val235=) c.696G>T (p.Val232=) c.631G>T (p.Gly211Ter) c.*360G>T (n.*360G>T) c.1209G>T (p.Val403=) c.589G>T (p.Gly197Ter) c.*594G>T (n.*594G>T) c.580G>T (p.Gly194Ter) c.*318G>T (n.*318G>T) c.649G>T (n.649G>T) c.624G>T (p.Val208=) c.666G>T (p.Val222=) n.312G>T c.15G>T (p.Val5=) c.*544G>T (n.*544G>T) c.508G>T (p.Gly170Ter) c.*434G>T (n.*434G>T) n.608G>T c.187+289G>T (n.187+289G>T) c.*272G>T (n.*272G>T) c.115+1917G>T (n.115+1917G>T) c.250G>T (p.Gly84Ter) c.345G>T (p.Val115=) c.681G>T (p.Val227=) c.243G>T (p.Val81=) c.234G>T (p.Val78=) c.249G>T (p.Val83=) n.752G>T c.276G>T (p.Val92=) n.879G>T n.693G>T c.105G>T (p.Val35=) n.666G>T n.478G>T n.658G>T n.1193G>T n.766G>T n.849G>T n.698G>T | |
| 1 | g.45332474C= | CA2473712752 | MUTYH | c.237G= (p.Val79=) c.654G= (p.Val218=) c.621G= (p.Val207=) c.639G= (p.Val213=) c.663G= (p.Val221=) c.244G= (p.Gly82=) c.*533G= (n.*533G=) c.705G= (p.Val235=) c.696G= (p.Val232=) c.631G= (p.Gly211=) c.*360G= (n.*360G=) c.1209G= (p.Val403=) c.589G= (p.Gly197=) c.*594G= (n.*594G=) c.580G= (p.Gly194=) c.*318G= (n.*318G=) c.649G= (n.649G=) c.624G= (p.Val208=) c.666G= (p.Val222=) n.312G= c.15G= (p.Val5=) c.*544G= (n.*544G=) c.508G= (p.Gly170=) c.*434G= (n.*434G=) n.608G= c.187+289G= (n.187+289G=) c.*272G= (n.*272G=) c.115+1917G= (n.115+1917G=) c.250G= (p.Gly84=) c.345G= (p.Val115=) c.681G= (p.Val227=) c.243G= (p.Val81=) c.234G= (p.Val78=) c.249G= (p.Val83=) n.752G= c.276G= (p.Val92=) n.879G= n.693G= c.105G= (p.Val35=) n.666G= n.478G= n.658G= n.1193G= n.766G= n.849G= n.698G= | |
| 1 | g.45332474C>G | CA417880272 | MUTYH | c.237G>C (p.Val79=) c.654G>C (p.Val218=) c.621G>C (p.Val207=) c.639G>C (p.Val213=) c.663G>C (p.Val221=) c.244G>C (p.Gly82Arg) c.*533G>C (n.*533G>C) c.705G>C (p.Val235=) c.696G>C (p.Val232=) c.631G>C (p.Gly211Arg) c.*360G>C (n.*360G>C) c.1209G>C (p.Val403=) c.589G>C (p.Gly197Arg) c.*594G>C (n.*594G>C) c.580G>C (p.Gly194Arg) c.*318G>C (n.*318G>C) c.649G>C (n.649G>C) c.624G>C (p.Val208=) c.666G>C (p.Val222=) n.312G>C c.15G>C (p.Val5=) c.*544G>C (n.*544G>C) c.508G>C (p.Gly170Arg) c.*434G>C (n.*434G>C) n.608G>C c.187+289G>C (n.187+289G>C) c.*272G>C (n.*272G>C) c.115+1917G>C (n.115+1917G>C) c.250G>C (p.Gly84Arg) c.345G>C (p.Val115=) c.681G>C (p.Val227=) c.243G>C (p.Val81=) c.234G>C (p.Val78=) c.249G>C (p.Val83=) n.752G>C c.276G>C (p.Val92=) n.879G>C n.693G>C c.105G>C (p.Val35=) n.666G>C n.478G>C n.658G>C n.1193G>C n.766G>C n.849G>C n.698G>C | |
| 1 | g.45332474C>T | CA058803 | MUTYH | c.237G>A (p.Val79=) c.654G>A (p.Val218=) c.621G>A (p.Val207=) c.639G>A (p.Val213=) c.663G>A (p.Val221=) c.244G>A (p.Gly82Arg) c.*533G>A (n.*533G>A) c.705G>A (p.Val235=) c.696G>A (p.Val232=) c.631G>A (p.Gly211Arg) c.*360G>A (n.*360G>A) c.1209G>A (p.Val403=) c.589G>A (p.Gly197Arg) c.*594G>A (n.*594G>A) c.580G>A (p.Gly194Arg) c.*318G>A (n.*318G>A) c.649G>A (n.649G>A) c.624G>A (p.Val208=) c.666G>A (p.Val222=) n.312G>A c.15G>A (p.Val5=) c.*544G>A (n.*544G>A) c.508G>A (p.Gly170Arg) c.*434G>A (n.*434G>A) n.608G>A c.187+289G>A (n.187+289G>A) c.*272G>A (n.*272G>A) c.115+1917G>A (n.115+1917G>A) c.250G>A (p.Gly84Arg) c.345G>A (p.Val115=) c.681G>A (p.Val227=) c.243G>A (p.Val81=) c.234G>A (p.Val78=) c.249G>A (p.Val83=) n.752G>A c.276G>A (p.Val92=) n.879G>A n.693G>A c.105G>A (p.Val35=) n.666G>A n.478G>A n.658G>A n.1193G>A n.766G>A n.849G>A n.698G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.45332475A>C | CA340134916 | MUTYH | c.236T>G (p.Val79Gly) c.653T>G (p.Val218Gly) c.620T>G (p.Val207Gly) c.638T>G (p.Val213Gly) c.662T>G (p.Val221Gly) c.243T>G (p.Gly81=) c.*532T>G (n.*532T>G) c.704T>G (p.Val235Gly) c.695T>G (p.Val232Gly) c.630T>G (p.Gly210=) c.*359T>G (n.*359T>G) c.1208T>G (p.Val403Gly) c.588T>G (p.Gly196=) c.*593T>G (n.*593T>G) c.579T>G (p.Gly193=) c.*317T>G (n.*317T>G) c.648T>G (n.648T>G) c.623T>G (p.Val208Gly) c.665T>G (p.Val222Gly) n.311T>G c.14T>G (p.Val5Gly) c.*543T>G (n.*543T>G) c.507T>G (p.Gly169=) c.*433T>G (n.*433T>G) n.607T>G c.187+288T>G (n.187+288T>G) c.*271T>G (n.*271T>G) c.115+1916T>G (n.115+1916T>G) c.249T>G (p.Gly83=) c.344T>G (p.Val115Gly) c.680T>G (p.Val227Gly) c.242T>G (p.Val81Gly) c.233T>G (p.Val78Gly) c.248T>G (p.Val83Gly) n.751T>G c.275T>G (p.Val92Gly) n.878T>G n.692T>G c.104T>G (p.Val35Gly) n.665T>G n.477T>G n.657T>G n.1192T>G n.765T>G n.848T>G n.697T>G | |
| 1 | g.45332475A>G | CA340134917 | MUTYH | c.236T>C (p.Val79Ala) c.653T>C (p.Val218Ala) c.620T>C (p.Val207Ala) c.638T>C (p.Val213Ala) c.662T>C (p.Val221Ala) c.243T>C (p.Gly81=) c.*532T>C (n.*532T>C) c.704T>C (p.Val235Ala) c.695T>C (p.Val232Ala) c.630T>C (p.Gly210=) c.*359T>C (n.*359T>C) c.1208T>C (p.Val403Ala) c.588T>C (p.Gly196=) c.*593T>C (n.*593T>C) c.579T>C (p.Gly193=) c.*317T>C (n.*317T>C) c.648T>C (n.648T>C) c.623T>C (p.Val208Ala) c.665T>C (p.Val222Ala) n.311T>C c.14T>C (p.Val5Ala) c.*543T>C (n.*543T>C) c.507T>C (p.Gly169=) c.*433T>C (n.*433T>C) n.607T>C c.187+288T>C (n.187+288T>C) c.*271T>C (n.*271T>C) c.115+1916T>C (n.115+1916T>C) c.249T>C (p.Gly83=) c.344T>C (p.Val115Ala) c.680T>C (p.Val227Ala) c.242T>C (p.Val81Ala) c.233T>C (p.Val78Ala) c.248T>C (p.Val83Ala) n.751T>C c.275T>C (p.Val92Ala) n.878T>C n.692T>C c.104T>C (p.Val35Ala) n.665T>C n.477T>C n.657T>C n.1192T>C n.765T>C n.848T>C n.697T>C | |
| 1 | g.45332475A>T | CA340134918 | MUTYH | c.236T>A (p.Val79Glu) c.653T>A (p.Val218Glu) c.620T>A (p.Val207Glu) c.638T>A (p.Val213Glu) c.662T>A (p.Val221Glu) c.243T>A (p.Gly81=) c.*532T>A (n.*532T>A) c.704T>A (p.Val235Glu) c.695T>A (p.Val232Glu) c.630T>A (p.Gly210=) c.*359T>A (n.*359T>A) c.1208T>A (p.Val403Glu) c.588T>A (p.Gly196=) c.*593T>A (n.*593T>A) c.579T>A (p.Gly193=) c.*317T>A (n.*317T>A) c.648T>A (n.648T>A) c.623T>A (p.Val208Glu) c.665T>A (p.Val222Glu) n.311T>A c.14T>A (p.Val5Glu) c.*543T>A (n.*543T>A) c.507T>A (p.Gly169=) c.*433T>A (n.*433T>A) n.607T>A c.187+288T>A (n.187+288T>A) c.*271T>A (n.*271T>A) c.115+1916T>A (n.115+1916T>A) c.249T>A (p.Gly83=) c.344T>A (p.Val115Glu) c.680T>A (p.Val227Glu) c.242T>A (p.Val81Glu) c.233T>A (p.Val78Glu) c.248T>A (p.Val83Glu) n.751T>A c.275T>A (p.Val92Glu) n.878T>A n.692T>A c.104T>A (p.Val35Glu) n.665T>A n.477T>A n.657T>A n.1192T>A n.765T>A n.848T>A n.697T>A | |
| 1 | g.45332476C>A | CA340134920 | MUTYH | c.235G>T (p.Val79Leu) c.652G>T (p.Val218Leu) c.619G>T (p.Val207Leu) c.637G>T (p.Val213Leu) c.661G>T (p.Val221Leu) c.242G>T (p.Gly81Val) c.*531G>T (n.*531G>T) c.703G>T (p.Val235Leu) c.694G>T (p.Val232Leu) c.629G>T (p.Gly210Val) c.*358G>T (n.*358G>T) c.1207G>T (p.Val403Leu) c.587G>T (p.Gly196Val) c.*592G>T (n.*592G>T) c.578G>T (p.Gly193Val) c.*316G>T (n.*316G>T) c.647G>T (n.647G>T) c.622G>T (p.Val208Leu) c.664G>T (p.Val222Leu) n.310G>T c.13G>T (p.Val5Leu) c.*542G>T (n.*542G>T) c.506G>T (p.Gly169Val) c.*432G>T (n.*432G>T) n.606G>T c.187+287G>T (n.187+287G>T) c.*270G>T (n.*270G>T) c.115+1915G>T (n.115+1915G>T) c.248G>T (p.Gly83Val) c.343G>T (p.Val115Leu) c.679G>T (p.Val227Leu) c.241G>T (p.Val81Leu) c.232G>T (p.Val78Leu) c.247G>T (p.Val83Leu) n.750G>T c.274G>T (p.Val92Leu) n.877G>T n.691G>T c.103G>T (p.Val35Leu) n.664G>T n.476G>T n.656G>T n.1191G>T n.764G>T n.847G>T n.696G>T | |
| 1 | g.45332476C>G | CA340134922 | MUTYH | c.235G>C (p.Val79Leu) c.652G>C (p.Val218Leu) c.619G>C (p.Val207Leu) c.637G>C (p.Val213Leu) c.661G>C (p.Val221Leu) c.242G>C (p.Gly81Ala) c.*531G>C (n.*531G>C) c.703G>C (p.Val235Leu) c.694G>C (p.Val232Leu) c.629G>C (p.Gly210Ala) c.*358G>C (n.*358G>C) c.1207G>C (p.Val403Leu) c.587G>C (p.Gly196Ala) c.*592G>C (n.*592G>C) c.578G>C (p.Gly193Ala) c.*316G>C (n.*316G>C) c.647G>C (n.647G>C) c.622G>C (p.Val208Leu) c.664G>C (p.Val222Leu) n.310G>C c.13G>C (p.Val5Leu) c.*542G>C (n.*542G>C) c.506G>C (p.Gly169Ala) c.*432G>C (n.*432G>C) n.606G>C c.187+287G>C (n.187+287G>C) c.*270G>C (n.*270G>C) c.115+1915G>C (n.115+1915G>C) c.248G>C (p.Gly83Ala) c.343G>C (p.Val115Leu) c.679G>C (p.Val227Leu) c.241G>C (p.Val81Leu) c.232G>C (p.Val78Leu) c.247G>C (p.Val83Leu) n.750G>C c.274G>C (p.Val92Leu) n.877G>C n.691G>C c.103G>C (p.Val35Leu) n.664G>C n.476G>C n.656G>C n.1191G>C n.764G>C n.847G>C n.696G>C | dbSNP |
| 1 | g.45332476C>T | CA340134923 | MUTYH | c.235G>A (p.Val79Met) c.652G>A (p.Val218Met) c.619G>A (p.Val207Met) c.637G>A (p.Val213Met) c.661G>A (p.Val221Met) c.242G>A (p.Gly81Asp) c.*531G>A (n.*531G>A) c.703G>A (p.Val235Met) c.694G>A (p.Val232Met) c.629G>A (p.Gly210Asp) c.*358G>A (n.*358G>A) c.1207G>A (p.Val403Met) c.587G>A (p.Gly196Asp) c.*592G>A (n.*592G>A) c.578G>A (p.Gly193Asp) c.*316G>A (n.*316G>A) c.647G>A (n.647G>A) c.622G>A (p.Val208Met) c.664G>A (p.Val222Met) n.310G>A c.13G>A (p.Val5Met) c.*542G>A (n.*542G>A) c.506G>A (p.Gly169Asp) c.*432G>A (n.*432G>A) n.606G>A c.187+287G>A (n.187+287G>A) c.*270G>A (n.*270G>A) c.115+1915G>A (n.115+1915G>A) c.248G>A (p.Gly83Asp) c.343G>A (p.Val115Met) c.679G>A (p.Val227Met) c.241G>A (p.Val81Met) c.232G>A (p.Val78Met) c.247G>A (p.Val83Met) n.750G>A c.274G>A (p.Val92Met) n.877G>A n.691G>A c.103G>A (p.Val35Met) n.664G>A n.476G>A n.656G>A n.1191G>A n.764G>A n.847G>A n.696G>A | |
| 1 | g.45332477del | CA2695198027 | MUTYH | c.235del (p.Val79TrpfsTer5) c.652del (p.Val218TrpfsTer5) c.619del (p.Val207TrpfsTer5) c.637del (p.Val213TrpfsTer5) c.661del (p.Val221TrpfsTer5) c.242del (p.Gly81ValfsTer?) c.*531del (n.*531del) c.703del (p.Val235TrpfsTer5) c.694del (p.Val232TrpfsTer5) c.629del (p.Gly210ValfsTer?) c.*358del (n.*358del) c.1207del (p.Val403TrpfsTer5) c.587del (p.Gly196ValfsTer?) c.*592del (n.*592del) c.578del (p.Gly193ValfsTer?) c.*316del (n.*316del) c.647del (n.647del) c.622del (p.Val208TrpfsTer5) c.664del (p.Val222TrpfsTer5) n.310del c.13del (p.Val5TrpfsTer5) c.*542del (n.*542del) c.506del (p.Gly169ValfsTer?) c.*432del (n.*432del) n.606del c.187+287del (n.187+287del) c.*270del (n.*270del) c.115+1915del (n.115+1915del) c.248del (p.Gly83ValfsTer?) c.343del (p.Val115TrpfsTer5) c.679del (p.Val227TrpfsTer5) c.241del (p.Val81TrpfsTer5) c.232del (p.Val78TrpfsTer5) c.247del (p.Val83TrpfsTer5) n.750del c.274del (p.Val92TrpfsTer5) n.877del n.691del c.103del (p.Val35TrpfsTer5) n.664del n.476del n.656del n.1191del n.764del n.847del n.696del | |
| 1 | g.45332477C>A | CA417880273 | MUTYH | c.234G>T (p.Val78=) c.651G>T (p.Val217=) c.618G>T (p.Val206=) c.636G>T (p.Val212=) c.660G>T (p.Val220=) c.241G>T (p.Gly81Cys) c.*530G>T (n.*530G>T) c.702G>T (p.Val234=) c.693G>T (p.Val231=) c.628G>T (p.Gly210Cys) c.*357G>T (n.*357G>T) c.1206G>T (p.Val402=) c.586G>T (p.Gly196Cys) c.*591G>T (n.*591G>T) c.577G>T (p.Gly193Cys) c.*315G>T (n.*315G>T) c.646G>T (n.646G>T) c.621G>T (p.Val207=) c.663G>T (p.Val221=) n.309G>T c.12G>T (p.Val4=) c.*541G>T (n.*541G>T) c.505G>T (p.Gly169Cys) c.*431G>T (n.*431G>T) n.605G>T c.187+286G>T (n.187+286G>T) c.*269G>T (n.*269G>T) c.115+1914G>T (n.115+1914G>T) c.247G>T (p.Gly83Cys) c.342G>T (p.Val114=) c.678G>T (p.Val226=) c.240G>T (p.Val80=) c.231G>T (p.Val77=) c.246G>T (p.Val82=) n.749G>T c.273G>T (p.Val91=) n.876G>T n.690G>T c.102G>T (p.Val34=) n.663G>T n.475G>T n.655G>T n.1190G>T n.763G>T n.846G>T n.695G>T |