UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112839169_112841264del | CA645543580 | APC | c.3629_5724del (p.Lys1210ArgfsTer3) c.*3581_*5676del (n.*3581_*5676del) c.3521_5616del (p.Lys1174ArgfsTer3) c.3575_5670del (p.Lys1192ArgfsTer3) c.*2897_*4992del (n.*2897_*4992del) c.230+10197_230+12292del c.3605_5700del (p.Lys1202ArgfsTer3) c.3500_5595del (p.Lys1167ArgfsTer3) c.3491_5586del (p.Lys1164ArgfsTer3) c.3452_5547del (p.Lys1151ArgfsTer3) c.3398_5493del (p.Lys1133ArgfsTer3) c.3302_5397del (p.Lys1101ArgfsTer3) c.3272_5367del (p.Lys1091ArgfsTer3) c.3197_5292del (p.Lys1066ArgfsTer3) c.3095_5190del (p.Lys1032ArgfsTer3) c.2726_4821del (p.Lys909ArgfsTer3) | COSMIC |
| 5 | g.112839329_112839330insTGCCTCAAAAG | CA2573138695 | APC | c.3400_3401insTGCCTCAAAAG (n.3400_3401insTGCCTCAAAAG) c.3789_3790insTGCCTCAAAAG (p.Ala1264CysfsTer23) c.*3741_*3742insTGCCTCAAAAG (n.*3741_*3742insTGCCTCAAAAG) c.3681_3682insTGCCTCAAAAG (p.Ala1228CysfsTer23) c.3735_3736insTGCCTCAAAAG (p.Ala1246CysfsTer23) c.2088_2089insTGCCTCAAAAG c.*3057_*3058insTGCCTCAAAAG (n.*3057_*3058insTGCCTCAAAAG) c.230+10357_230+10358insTGCCTCAAAAG c.3765_3766insTGCCTCAAAAG (p.Ala1256CysfsTer23) c.3660_3661insTGCCTCAAAAG (p.Ala1221CysfsTer23) c.3651_3652insTGCCTCAAAAG (p.Ala1218CysfsTer23) c.3612_3613insTGCCTCAAAAG (p.Ala1205CysfsTer23) c.3558_3559insTGCCTCAAAAG (p.Ala1187CysfsTer23) c.3462_3463insTGCCTCAAAAG (p.Ala1155CysfsTer23) c.3432_3433insTGCCTCAAAAG (p.Ala1145CysfsTer23) c.3357_3358insTGCCTCAAAAG (p.Ala1120CysfsTer23) c.3255_3256insTGCCTCAAAAG (p.Ala1086CysfsTer23) c.2886_2887insTGCCTCAAAAG (p.Ala963CysfsTer23) | ClinVar dbSNP |
| 5 | g.112839321C>A | CA16029511 | APC | c.3392C>A (n.3392C>A) c.3781C>A (p.Pro1261Thr) c.*3733C>A (n.*3733C>A) c.3673C>A (p.Pro1225Thr) c.3727C>A (p.Pro1243Thr) c.2080C>A c.*3049C>A (n.*3049C>A) c.230+10349C>A c.3757C>A (p.Pro1253Thr) c.3652C>A (p.Pro1218Thr) c.3643C>A (p.Pro1215Thr) c.3604C>A (p.Pro1202Thr) c.3550C>A (p.Pro1184Thr) c.3454C>A (p.Pro1152Thr) c.3424C>A (p.Pro1142Thr) c.3349C>A (p.Pro1117Thr) c.3247C>A (p.Pro1083Thr) c.2878C>A (p.Pro960Thr) | dbSNP |
| 5 | g.112839321C= | CA1573490097 | APC | c.3392C= (n.3392C=) c.3781C= (p.Pro1261=) c.*3733C= (n.*3733C=) c.3673C= (p.Pro1225=) c.3727C= (p.Pro1243=) c.2080C= c.*3049C= (n.*3049C=) c.230+10349C= c.3757C= (p.Pro1253=) c.3652C= (p.Pro1218=) c.3643C= (p.Pro1215=) c.3604C= (p.Pro1202=) c.3550C= (p.Pro1184=) c.3454C= (p.Pro1152=) c.3424C= (p.Pro1142=) c.3349C= (p.Pro1117=) c.3247C= (p.Pro1083=) c.2878C= (p.Pro960=) | |
| 5 | g.112839321C>G | CA16029512 | APC | c.3392C>G (n.3392C>G) c.3781C>G (p.Pro1261Ala) c.*3733C>G (n.*3733C>G) c.3673C>G (p.Pro1225Ala) c.3727C>G (p.Pro1243Ala) c.2080C>G c.*3049C>G (n.*3049C>G) c.230+10349C>G c.3757C>G (p.Pro1253Ala) c.3652C>G (p.Pro1218Ala) c.3643C>G (p.Pro1215Ala) c.3604C>G (p.Pro1202Ala) c.3550C>G (p.Pro1184Ala) c.3454C>G (p.Pro1152Ala) c.3424C>G (p.Pro1142Ala) c.3349C>G (p.Pro1117Ala) c.3247C>G (p.Pro1083Ala) c.2878C>G (p.Pro960Ala) | |
| 5 | g.112839321C>T | CA036404 | APC | c.3392C>T (n.3392C>T) c.3781C>T (p.Pro1261Ser) c.*3733C>T (n.*3733C>T) c.3673C>T (p.Pro1225Ser) c.3727C>T (p.Pro1243Ser) c.2080C>T c.*3049C>T (n.*3049C>T) c.230+10349C>T c.3757C>T (p.Pro1253Ser) c.3652C>T (p.Pro1218Ser) c.3643C>T (p.Pro1215Ser) c.3604C>T (p.Pro1202Ser) c.3550C>T (p.Pro1184Ser) c.3454C>T (p.Pro1152Ser) c.3424C>T (p.Pro1142Ser) c.3349C>T (p.Pro1117Ser) c.3247C>T (p.Pro1083Ser) c.2878C>T (p.Pro960Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.112839322C>A | CA16029513 | APC | c.3393C>A (n.3393C>A) c.3782C>A (p.Pro1261His) c.*3734C>A (n.*3734C>A) c.3674C>A (p.Pro1225His) c.3728C>A (p.Pro1243His) c.2081C>A c.*3050C>A (n.*3050C>A) c.230+10350C>A c.3758C>A (p.Pro1253His) c.3653C>A (p.Pro1218His) c.3644C>A (p.Pro1215His) c.3605C>A (p.Pro1202His) c.3551C>A (p.Pro1184His) c.3455C>A (p.Pro1152His) c.3425C>A (p.Pro1142His) c.3350C>A (p.Pro1117His) c.3248C>A (p.Pro1083His) c.2879C>A (p.Pro960His) | |
| 5 | g.112839322C>G | CA16029514 | APC | c.3393C>G (n.3393C>G) c.3782C>G (p.Pro1261Arg) c.*3734C>G (n.*3734C>G) c.3674C>G (p.Pro1225Arg) c.3728C>G (p.Pro1243Arg) c.2081C>G c.*3050C>G (n.*3050C>G) c.230+10350C>G c.3758C>G (p.Pro1253Arg) c.3653C>G (p.Pro1218Arg) c.3644C>G (p.Pro1215Arg) c.3605C>G (p.Pro1202Arg) c.3551C>G (p.Pro1184Arg) c.3455C>G (p.Pro1152Arg) c.3425C>G (p.Pro1142Arg) c.3350C>G (p.Pro1117Arg) c.3248C>G (p.Pro1083Arg) c.2879C>G (p.Pro960Arg) | dbSNP |
| 5 | g.112839322C>T | CA16029515 | APC | c.3393C>T (n.3393C>T) c.3782C>T (p.Pro1261Leu) c.*3734C>T (n.*3734C>T) c.3674C>T (p.Pro1225Leu) c.3728C>T (p.Pro1243Leu) c.2081C>T c.*3050C>T (n.*3050C>T) c.230+10350C>T c.3758C>T (p.Pro1253Leu) c.3653C>T (p.Pro1218Leu) c.3644C>T (p.Pro1215Leu) c.3605C>T (p.Pro1202Leu) c.3551C>T (p.Pro1184Leu) c.3455C>T (p.Pro1152Leu) c.3425C>T (p.Pro1142Leu) c.3350C>T (p.Pro1117Leu) c.3248C>T (p.Pro1083Leu) c.2879C>T (p.Pro960Leu) | gnomAD v4 |
| 5 | g.112839323T>A | CA445963978 | APC | c.3394T>A (n.3394T>A) c.3783T>A (p.Pro1261=) c.*3735T>A (n.*3735T>A) c.3675T>A (p.Pro1225=) c.3729T>A (p.Pro1243=) c.2082T>A c.*3051T>A (n.*3051T>A) c.230+10351T>A c.3759T>A (p.Pro1253=) c.3654T>A (p.Pro1218=) c.3645T>A (p.Pro1215=) c.3606T>A (p.Pro1202=) c.3552T>A (p.Pro1184=) c.3456T>A (p.Pro1152=) c.3426T>A (p.Pro1142=) c.3351T>A (p.Pro1117=) c.3249T>A (p.Pro1083=) c.2880T>A (p.Pro960=) | dbSNP gnomAD v4 |
| 5 | g.112839323T>C | CA445963980 | APC | c.3394T>C (n.3394T>C) c.3783T>C (p.Pro1261=) c.*3735T>C (n.*3735T>C) c.3675T>C (p.Pro1225=) c.3729T>C (p.Pro1243=) c.2082T>C c.*3051T>C (n.*3051T>C) c.230+10351T>C c.3759T>C (p.Pro1253=) c.3654T>C (p.Pro1218=) c.3645T>C (p.Pro1215=) c.3606T>C (p.Pro1202=) c.3552T>C (p.Pro1184=) c.3456T>C (p.Pro1152=) c.3426T>C (p.Pro1142=) c.3351T>C (p.Pro1117=) c.3249T>C (p.Pro1083=) c.2880T>C (p.Pro960=) | dbSNP |
| 5 | g.112839323T>G | CA445963981 | APC | c.3394T>G (n.3394T>G) c.3783T>G (p.Pro1261=) c.*3735T>G (n.*3735T>G) c.3675T>G (p.Pro1225=) c.3729T>G (p.Pro1243=) c.2082T>G c.*3051T>G (n.*3051T>G) c.230+10351T>G c.3759T>G (p.Pro1253=) c.3654T>G (p.Pro1218=) c.3645T>G (p.Pro1215=) c.3606T>G (p.Pro1202=) c.3552T>G (p.Pro1184=) c.3456T>G (p.Pro1152=) c.3426T>G (p.Pro1142=) c.3351T>G (p.Pro1117=) c.3249T>G (p.Pro1083=) c.2880T>G (p.Pro960=) | |
| 5 | g.112839324C>A | CA008649 | APC | c.3395C>A (n.3395C>A) c.3784C>A (p.Gln1262Lys) c.*3736C>A (n.*3736C>A) c.3676C>A (p.Gln1226Lys) c.3730C>A (p.Gln1244Lys) c.2083C>A c.*3052C>A (n.*3052C>A) c.230+10352C>A c.3760C>A (p.Gln1254Lys) c.3655C>A (p.Gln1219Lys) c.3646C>A (p.Gln1216Lys) c.3607C>A (p.Gln1203Lys) c.3553C>A (p.Gln1185Lys) c.3457C>A (p.Gln1153Lys) c.3427C>A (p.Gln1143Lys) c.3352C>A (p.Gln1118Lys) c.3250C>A (p.Gln1084Lys) c.2881C>A (p.Gln961Lys) | ClinVar dbSNP |
| 5 | g.112839324C= | CA1573490111 | APC | c.3395C= (n.3395C=) c.3784C= (p.Gln1262=) c.*3736C= (n.*3736C=) c.3676C= (p.Gln1226=) c.3730C= (p.Gln1244=) c.2083C= c.*3052C= (n.*3052C=) c.230+10352C= c.3760C= (p.Gln1254=) c.3655C= (p.Gln1219=) c.3646C= (p.Gln1216=) c.3607C= (p.Gln1203=) c.3553C= (p.Gln1185=) c.3457C= (p.Gln1153=) c.3427C= (p.Gln1143=) c.3352C= (p.Gln1118=) c.3250C= (p.Gln1084=) c.2881C= (p.Gln961=) | |
| 5 | g.112839324C>G | CA16029516 | APC | c.3395C>G (n.3395C>G) c.3784C>G (p.Gln1262Glu) c.*3736C>G (n.*3736C>G) c.3676C>G (p.Gln1226Glu) c.3730C>G (p.Gln1244Glu) c.2083C>G c.*3052C>G (n.*3052C>G) c.230+10352C>G c.3760C>G (p.Gln1254Glu) c.3655C>G (p.Gln1219Glu) c.3646C>G (p.Gln1216Glu) c.3607C>G (p.Gln1203Glu) c.3553C>G (p.Gln1185Glu) c.3457C>G (p.Gln1153Glu) c.3427C>G (p.Gln1143Glu) c.3352C>G (p.Gln1118Glu) c.3250C>G (p.Gln1084Glu) c.2881C>G (p.Gln961Glu) | ClinVar dbSNP |
| 5 | g.112839324C>T | CA16029517 | APC | c.3395C>T (n.3395C>T) c.3784C>T (p.Gln1262Ter) c.*3736C>T (n.*3736C>T) c.3676C>T (p.Gln1226Ter) c.3730C>T (p.Gln1244Ter) c.2083C>T c.*3052C>T (n.*3052C>T) c.230+10352C>T c.3760C>T (p.Gln1254Ter) c.3655C>T (p.Gln1219Ter) c.3646C>T (p.Gln1216Ter) c.3607C>T (p.Gln1203Ter) c.3553C>T (p.Gln1185Ter) c.3457C>T (p.Gln1153Ter) c.3427C>T (p.Gln1143Ter) c.3352C>T (p.Gln1118Ter) c.3250C>T (p.Gln1084Ter) c.2881C>T (p.Gln961Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112839324_112839325delinsCA | CA1573490104 | APC | c.3395_3396delinsCA (n.3395_3396delinsCA) c.3784_3785delinsCA (p.Gln1262=) c.*3736_*3737delinsCA (n.*3736_*3737delinsCA) c.3676_3677delinsCA (p.Gln1226=) c.3730_3731delinsCA (p.Gln1244=) c.2083_2084delinsCA c.*3052_*3053delinsCA (n.*3052_*3053delinsCA) c.230+10352_230+10353delinsCA c.3760_3761delinsCA (p.Gln1254=) c.3655_3656delinsCA (p.Gln1219=) c.3646_3647delinsCA (p.Gln1216=) c.3607_3608delinsCA (p.Gln1203=) c.3553_3554delinsCA (p.Gln1185=) c.3457_3458delinsCA (p.Gln1153=) c.3427_3428delinsCA (p.Gln1143=) c.3352_3353delinsCA (p.Gln1118=) c.3250_3251delinsCA (p.Gln1084=) c.2881_2882delinsCA (p.Gln961=) | |
| 5 | g.112839324_112839327del | CA2695204959 | APC | c.3395_3398del (n.3395_3398del) c.3784_3787del (p.Gln1262ArgfsTer20) c.*3736_*3739del (n.*3736_*3739del) c.3676_3679del (p.Gln1226ArgfsTer20) c.3730_3733del (p.Gln1244ArgfsTer20) c.2083_2086del c.*3052_*3055del (n.*3052_*3055del) c.230+10352_230+10355del c.3760_3763del (p.Gln1254ArgfsTer20) c.3655_3658del (p.Gln1219ArgfsTer20) c.3646_3649del (p.Gln1216ArgfsTer20) c.3607_3610del (p.Gln1203ArgfsTer20) c.3553_3556del (p.Gln1185ArgfsTer20) c.3457_3460del (p.Gln1153ArgfsTer20) c.3427_3430del (p.Gln1143ArgfsTer20) c.3352_3355del (p.Gln1118ArgfsTer20) c.3250_3253del (p.Gln1084ArgfsTer20) c.2881_2884del (p.Gln961ArgfsTer20) | |
| 5 | g.112839325A>C | CA16029518 | APC | c.3396A>C (n.3396A>C) c.3785A>C (p.Gln1262Pro) c.*3737A>C (n.*3737A>C) c.3677A>C (p.Gln1226Pro) c.3731A>C (p.Gln1244Pro) c.2084A>C c.*3053A>C (n.*3053A>C) c.230+10353A>C c.3761A>C (p.Gln1254Pro) c.3656A>C (p.Gln1219Pro) c.3647A>C (p.Gln1216Pro) c.3608A>C (p.Gln1203Pro) c.3554A>C (p.Gln1185Pro) c.3458A>C (p.Gln1153Pro) c.3428A>C (p.Gln1143Pro) c.3353A>C (p.Gln1118Pro) c.3251A>C (p.Gln1084Pro) c.2882A>C (p.Gln961Pro) | ClinVar gnomAD v4 |
| 5 | g.112839325A>G | CA16029519 | APC | c.3396A>G (n.3396A>G) c.3785A>G (p.Gln1262Arg) c.*3737A>G (n.*3737A>G) c.3677A>G (p.Gln1226Arg) c.3731A>G (p.Gln1244Arg) c.2084A>G c.*3053A>G (n.*3053A>G) c.230+10353A>G c.3761A>G (p.Gln1254Arg) c.3656A>G (p.Gln1219Arg) c.3647A>G (p.Gln1216Arg) c.3608A>G (p.Gln1203Arg) c.3554A>G (p.Gln1185Arg) c.3458A>G (p.Gln1153Arg) c.3428A>G (p.Gln1143Arg) c.3353A>G (p.Gln1118Arg) c.3251A>G (p.Gln1084Arg) c.2882A>G (p.Gln961Arg) | |
| 5 | g.112839325A>T | CA16029520 | APC | c.3396A>T (n.3396A>T) c.3785A>T (p.Gln1262Leu) c.*3737A>T (n.*3737A>T) c.3677A>T (p.Gln1226Leu) c.3731A>T (p.Gln1244Leu) c.2084A>T c.*3053A>T (n.*3053A>T) c.230+10353A>T c.3761A>T (p.Gln1254Leu) c.3656A>T (p.Gln1219Leu) c.3647A>T (p.Gln1216Leu) c.3608A>T (p.Gln1203Leu) c.3554A>T (p.Gln1185Leu) c.3458A>T (p.Gln1153Leu) c.3428A>T (p.Gln1143Leu) c.3353A>T (p.Gln1118Leu) c.3251A>T (p.Gln1084Leu) c.2882A>T (p.Gln961Leu) | dbSNP |
| 5 | g.112839328dup | CA445963988 | APC | c.3399dup (n.3399dup) c.3788dup (p.Ala1264GlyfsTer10) c.*3740dup (n.*3740dup) c.3680dup (p.Ala1228GlyfsTer10) c.3734dup (p.Ala1246GlyfsTer10) c.2087dup c.*3056dup (n.*3056dup) c.230+10356dup c.3764dup (p.Ala1256GlyfsTer10) c.3659dup (p.Ala1221GlyfsTer10) c.3650dup (p.Ala1218GlyfsTer10) c.3611dup (p.Ala1205GlyfsTer10) c.3557dup (p.Ala1187GlyfsTer10) c.3461dup (p.Ala1155GlyfsTer10) c.3431dup (p.Ala1145GlyfsTer10) c.3356dup (p.Ala1120GlyfsTer10) c.3254dup (p.Ala1086GlyfsTer10) c.2885dup (p.Ala963GlyfsTer10) | ClinVar dbSNP COSMIC |
| 5 | g.112839328del | CA445963989 | APC | c.3399del (n.3399del) c.3788del (p.Lys1263ArgfsTer20) c.*3740del (n.*3740del) c.3680del (p.Lys1227ArgfsTer20) c.3734del (p.Lys1245ArgfsTer20) c.2087del c.*3056del (n.*3056del) c.230+10356del c.3764del (p.Lys1255ArgfsTer20) c.3659del (p.Lys1220ArgfsTer20) c.3650del (p.Lys1217ArgfsTer20) c.3611del (p.Lys1204ArgfsTer20) c.3557del (p.Lys1186ArgfsTer20) c.3461del (p.Lys1154ArgfsTer20) c.3431del (p.Lys1144ArgfsTer20) c.3356del (p.Lys1119ArgfsTer20) c.3254del (p.Lys1085ArgfsTer20) c.2885del (p.Lys962ArgfsTer20) | ClinVar dbSNP COSMIC |
| 5 | g.112839327_112839328del | CA2695204960 | APC | c.3398_3399del (n.3398_3399del) c.3787_3788del (p.Lys1263GlyfsTer10) c.*3739_*3740del (n.*3739_*3740del) c.3679_3680del (p.Lys1227GlyfsTer10) c.3733_3734del (p.Lys1245GlyfsTer10) c.2086_2087del c.*3055_*3056del (n.*3055_*3056del) c.230+10355_230+10356del c.3763_3764del (p.Lys1255GlyfsTer10) c.3658_3659del (p.Lys1220GlyfsTer10) c.3649_3650del (p.Lys1217GlyfsTer10) c.3610_3611del (p.Lys1204GlyfsTer10) c.3556_3557del (p.Lys1186GlyfsTer10) c.3460_3461del (p.Lys1154GlyfsTer10) c.3430_3431del (p.Lys1144GlyfsTer10) c.3355_3356del (p.Lys1119GlyfsTer10) c.3253_3254del (p.Lys1085GlyfsTer10) c.2884_2885del (p.Lys962GlyfsTer10) | |
| 5 | g.112839326A= | CA1573490127 | APC | c.3397A= (n.3397A=) c.3786A= (p.Gln1262=) c.*3738A= (n.*3738A=) c.3678A= (p.Gln1226=) c.3732A= (p.Gln1244=) c.2085A= c.*3054A= (n.*3054A=) c.230+10354A= c.3762A= (p.Gln1254=) c.3657A= (p.Gln1219=) c.3648A= (p.Gln1216=) c.3609A= (p.Gln1203=) c.3555A= (p.Gln1185=) c.3459A= (p.Gln1153=) c.3429A= (p.Gln1143=) c.3354A= (p.Gln1118=) c.3252A= (p.Gln1084=) c.2883A= (p.Gln961=) | |
| 5 | g.112839326A>C | CA16029521 | APC | c.3397A>C (n.3397A>C) c.3786A>C (p.Gln1262His) c.*3738A>C (n.*3738A>C) c.3678A>C (p.Gln1226His) c.3732A>C (p.Gln1244His) c.2085A>C c.*3054A>C (n.*3054A>C) c.230+10354A>C c.3762A>C (p.Gln1254His) c.3657A>C (p.Gln1219His) c.3648A>C (p.Gln1216His) c.3609A>C (p.Gln1203His) c.3555A>C (p.Gln1185His) c.3459A>C (p.Gln1153His) c.3429A>C (p.Gln1143His) c.3354A>C (p.Gln1118His) c.3252A>C (p.Gln1084His) c.2883A>C (p.Gln961His) | dbSNP |
| 5 | g.112839326A>G | CA008657 | APC | c.3397A>G (n.3397A>G) c.3786A>G (p.Gln1262=) c.*3738A>G (n.*3738A>G) c.3678A>G (p.Gln1226=) c.3732A>G (p.Gln1244=) c.2085A>G c.*3054A>G (n.*3054A>G) c.230+10354A>G c.3762A>G (p.Gln1254=) c.3657A>G (p.Gln1219=) c.3648A>G (p.Gln1216=) c.3609A>G (p.Gln1203=) c.3555A>G (p.Gln1185=) c.3459A>G (p.Gln1153=) c.3429A>G (p.Gln1143=) c.3354A>G (p.Gln1118=) c.3252A>G (p.Gln1084=) c.2883A>G (p.Gln961=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839326A>T | CA16029522 | APC | c.3397A>T (n.3397A>T) c.3786A>T (p.Gln1262His) c.*3738A>T (n.*3738A>T) c.3678A>T (p.Gln1226His) c.3732A>T (p.Gln1244His) c.2085A>T c.*3054A>T (n.*3054A>T) c.230+10354A>T c.3762A>T (p.Gln1254His) c.3657A>T (p.Gln1219His) c.3648A>T (p.Gln1216His) c.3609A>T (p.Gln1203His) c.3555A>T (p.Gln1185His) c.3459A>T (p.Gln1153His) c.3429A>T (p.Gln1143His) c.3354A>T (p.Gln1118His) c.3252A>T (p.Gln1084His) c.2883A>T (p.Gln961His) | dbSNP |
| 5 | g.112839327A>C | CA16029523 | APC | c.3398A>C (n.3398A>C) c.3787A>C (p.Lys1263Gln) c.*3739A>C (n.*3739A>C) c.3679A>C (p.Lys1227Gln) c.3733A>C (p.Lys1245Gln) c.2086A>C c.*3055A>C (n.*3055A>C) c.230+10355A>C c.3763A>C (p.Lys1255Gln) c.3658A>C (p.Lys1220Gln) c.3649A>C (p.Lys1217Gln) c.3610A>C (p.Lys1204Gln) c.3556A>C (p.Lys1186Gln) c.3460A>C (p.Lys1154Gln) c.3430A>C (p.Lys1144Gln) c.3355A>C (p.Lys1119Gln) c.3253A>C (p.Lys1085Gln) c.2884A>C (p.Lys962Gln) | |
| 5 | g.112839327A>G | CA16029524 | APC | c.3398A>G (n.3398A>G) c.3787A>G (p.Lys1263Glu) c.*3739A>G (n.*3739A>G) c.3679A>G (p.Lys1227Glu) c.3733A>G (p.Lys1245Glu) c.2086A>G c.*3055A>G (n.*3055A>G) c.230+10355A>G c.3763A>G (p.Lys1255Glu) c.3658A>G (p.Lys1220Glu) c.3649A>G (p.Lys1217Glu) c.3610A>G (p.Lys1204Glu) c.3556A>G (p.Lys1186Glu) c.3460A>G (p.Lys1154Glu) c.3430A>G (p.Lys1144Glu) c.3355A>G (p.Lys1119Glu) c.3253A>G (p.Lys1085Glu) c.2884A>G (p.Lys962Glu) | ClinVar dbSNP |
| 5 | g.112839327A>T | CA16029525 | APC | c.3398A>T (n.3398A>T) c.3787A>T (p.Lys1263Ter) c.*3739A>T (n.*3739A>T) c.3679A>T (p.Lys1227Ter) c.3733A>T (p.Lys1245Ter) c.2086A>T c.*3055A>T (n.*3055A>T) c.230+10355A>T c.3763A>T (p.Lys1255Ter) c.3658A>T (p.Lys1220Ter) c.3649A>T (p.Lys1217Ter) c.3610A>T (p.Lys1204Ter) c.3556A>T (p.Lys1186Ter) c.3460A>T (p.Lys1154Ter) c.3430A>T (p.Lys1144Ter) c.3355A>T (p.Lys1119Ter) c.3253A>T (p.Lys1085Ter) c.2884A>T (p.Lys962Ter) | dbSNP |
| 5 | g.112839328A>C | CA16029526 | APC | c.3399A>C (n.3399A>C) c.3788A>C (p.Lys1263Thr) c.*3740A>C (n.*3740A>C) c.3680A>C (p.Lys1227Thr) c.3734A>C (p.Lys1245Thr) c.2087A>C c.*3056A>C (n.*3056A>C) c.230+10356A>C c.3764A>C (p.Lys1255Thr) c.3659A>C (p.Lys1220Thr) c.3650A>C (p.Lys1217Thr) c.3611A>C (p.Lys1204Thr) c.3557A>C (p.Lys1186Thr) c.3461A>C (p.Lys1154Thr) c.3431A>C (p.Lys1144Thr) c.3356A>C (p.Lys1119Thr) c.3254A>C (p.Lys1085Thr) c.2885A>C (p.Lys962Thr) | |
| 5 | g.112839328A>G | CA16029527 | APC | c.3399A>G (n.3399A>G) c.3788A>G (p.Lys1263Arg) c.*3740A>G (n.*3740A>G) c.3680A>G (p.Lys1227Arg) c.3734A>G (p.Lys1245Arg) c.2087A>G c.*3056A>G (n.*3056A>G) c.230+10356A>G c.3764A>G (p.Lys1255Arg) c.3659A>G (p.Lys1220Arg) c.3650A>G (p.Lys1217Arg) c.3611A>G (p.Lys1204Arg) c.3557A>G (p.Lys1186Arg) c.3461A>G (p.Lys1154Arg) c.3431A>G (p.Lys1144Arg) c.3356A>G (p.Lys1119Arg) c.3254A>G (p.Lys1085Arg) c.2885A>G (p.Lys962Arg) | dbSNP |
| 5 | g.112839328A>T | CA16029528 | APC | c.3399A>T (n.3399A>T) c.3788A>T (p.Lys1263Met) c.*3740A>T (n.*3740A>T) c.3680A>T (p.Lys1227Met) c.3734A>T (p.Lys1245Met) c.2087A>T c.*3056A>T (n.*3056A>T) c.230+10356A>T c.3764A>T (p.Lys1255Met) c.3659A>T (p.Lys1220Met) c.3650A>T (p.Lys1217Met) c.3611A>T (p.Lys1204Met) c.3557A>T (p.Lys1186Met) c.3461A>T (p.Lys1154Met) c.3431A>T (p.Lys1144Met) c.3356A>T (p.Lys1119Met) c.3254A>T (p.Lys1085Met) c.2885A>T (p.Lys962Met) | dbSNP gnomAD v4 |
| 5 | g.112839328_112839331delinsAGGC | CA1573490136 | APC | c.3399_3402delinsAGGC (n.3399_3402delinsAGGC) c.3788_3791delinsAGGC (p.Lys1263=) c.*3740_*3743delinsAGGC (n.*3740_*3743delinsAGGC) c.3680_3683delinsAGGC (p.Lys1227=) c.3734_3737delinsAGGC (p.Lys1245=) c.2087_2090delinsAGGC c.*3056_*3059delinsAGGC (n.*3056_*3059delinsAGGC) c.230+10356_230+10359delinsAGGC c.3764_3767delinsAGGC (p.Lys1255=) c.3659_3662delinsAGGC (p.Lys1220=) c.3650_3653delinsAGGC (p.Lys1217=) c.3611_3614delinsAGGC (p.Lys1204=) c.3557_3560delinsAGGC (p.Lys1186=) c.3461_3464delinsAGGC (p.Lys1154=) c.3431_3434delinsAGGC (p.Lys1144=) c.3356_3359delinsAGGC (p.Lys1119=) c.3254_3257delinsAGGC (p.Lys1085=) c.2885_2888delinsAGGC (p.Lys962=) | |
| 5 | g.112839329G>A | CA445963995 | APC | c.3400G>A (n.3400G>A) c.3789G>A (p.Lys1263=) c.*3741G>A (n.*3741G>A) c.3681G>A (p.Lys1227=) c.3735G>A (p.Lys1245=) c.2088G>A c.*3057G>A (n.*3057G>A) c.230+10357G>A c.3765G>A (p.Lys1255=) c.3660G>A (p.Lys1220=) c.3651G>A (p.Lys1217=) c.3612G>A (p.Lys1204=) c.3558G>A (p.Lys1186=) c.3462G>A (p.Lys1154=) c.3432G>A (p.Lys1144=) c.3357G>A (p.Lys1119=) c.3255G>A (p.Lys1085=) c.2886G>A (p.Lys962=) | dbSNP |
| 5 | g.112839329G>C | CA16029529 | APC | c.3400G>C (n.3400G>C) c.3789G>C (p.Lys1263Asn) c.*3741G>C (n.*3741G>C) c.3681G>C (p.Lys1227Asn) c.3735G>C (p.Lys1245Asn) c.2088G>C c.*3057G>C (n.*3057G>C) c.230+10357G>C c.3765G>C (p.Lys1255Asn) c.3660G>C (p.Lys1220Asn) c.3651G>C (p.Lys1217Asn) c.3612G>C (p.Lys1204Asn) c.3558G>C (p.Lys1186Asn) c.3462G>C (p.Lys1154Asn) c.3432G>C (p.Lys1144Asn) c.3357G>C (p.Lys1119Asn) c.3255G>C (p.Lys1085Asn) c.2886G>C (p.Lys962Asn) | ClinVar dbSNP |
| 5 | g.112839329G= | CA1573490144 | APC | c.3400G= (n.3400G=) c.3789G= (p.Lys1263=) c.*3741G= (n.*3741G=) c.3681G= (p.Lys1227=) c.3735G= (p.Lys1245=) c.2088G= c.*3057G= (n.*3057G=) c.230+10357G= c.3765G= (p.Lys1255=) c.3660G= (p.Lys1220=) c.3651G= (p.Lys1217=) c.3612G= (p.Lys1204=) c.3558G= (p.Lys1186=) c.3462G= (p.Lys1154=) c.3432G= (p.Lys1144=) c.3357G= (p.Lys1119=) c.3255G= (p.Lys1085=) c.2886G= (p.Lys962=) | |
| 5 | g.112839329G>T | CA16029530 | APC | c.3400G>T (n.3400G>T) c.3789G>T (p.Lys1263Asn) c.*3741G>T (n.*3741G>T) c.3681G>T (p.Lys1227Asn) c.3735G>T (p.Lys1245Asn) c.2088G>T c.*3057G>T (n.*3057G>T) c.230+10357G>T c.3765G>T (p.Lys1255Asn) c.3660G>T (p.Lys1220Asn) c.3651G>T (p.Lys1217Asn) c.3612G>T (p.Lys1204Asn) c.3558G>T (p.Lys1186Asn) c.3462G>T (p.Lys1154Asn) c.3432G>T (p.Lys1144Asn) c.3357G>T (p.Lys1119Asn) c.3255G>T (p.Lys1085Asn) c.2886G>T (p.Lys962Asn) | dbSNP |
| 5 | g.112839330del | CA658760543 | APC | c.3401del (n.3401del) c.3790del (p.Ala1264LeufsTer19) c.*3742del (n.*3742del) c.3682del (p.Ala1228LeufsTer19) c.3736del (p.Ala1246LeufsTer19) c.2089del c.*3058del (n.*3058del) c.230+10358del c.3766del (p.Ala1256LeufsTer19) c.3661del (p.Ala1221LeufsTer19) c.3652del (p.Ala1218LeufsTer19) c.3613del (p.Ala1205LeufsTer19) c.3559del (p.Ala1187LeufsTer19) c.3463del (p.Ala1155LeufsTer19) c.3433del (p.Ala1145LeufsTer19) c.3358del (p.Ala1120LeufsTer19) c.3256del (p.Ala1086LeufsTer19) c.2887del (p.Ala963LeufsTer19) | |
| 5 | g.112839329_112839331del | CA562217608 | APC | c.3400_3402del (n.3400_3402del) c.3789_3791del (p.Lys1263_Ala1264delinsAsn) c.*3741_*3743del (n.*3741_*3743del) c.3681_3683del (p.Lys1227_Ala1228delinsAsn) c.3735_3737del (p.Lys1245_Ala1246delinsAsn) c.2088_2090del c.*3057_*3059del (n.*3057_*3059del) c.230+10357_230+10359del c.3765_3767del (p.Lys1255_Ala1256delinsAsn) c.3660_3662del (p.Lys1220_Ala1221delinsAsn) c.3651_3653del (p.Lys1217_Ala1218delinsAsn) c.3612_3614del (p.Lys1204_Ala1205delinsAsn) c.3558_3560del (p.Lys1186_Ala1187delinsAsn) c.3462_3464del (p.Lys1154_Ala1155delinsAsn) c.3432_3434del (p.Lys1144_Ala1145delinsAsn) c.3357_3359del (p.Lys1119_Ala1120delinsAsn) c.3255_3257del (p.Lys1085_Ala1086delinsAsn) c.2886_2888del (p.Lys962_Ala963delinsAsn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112839330_112839415del | CA658760542 | APC | c.3401_3486del (n.3401_3486del) c.3790_3875del (p.Ala1264Ter) c.*3742_*3827del (n.*3742_*3827del) c.3682_3767del (p.Ala1228Ter) c.3736_3821del (p.Ala1246Ter) c.2089_2174del c.*3058_*3143del (n.*3058_*3143del) c.230+10358_230+10443del c.3766_3851del (p.Ala1256Ter) c.3661_3746del (p.Ala1221Ter) c.3652_3737del (p.Ala1218Ter) c.3613_3698del (p.Ala1205Ter) c.3559_3644del (p.Ala1187Ter) c.3463_3548del (p.Ala1155Ter) c.3433_3518del (p.Ala1145Ter) c.3358_3443del (p.Ala1120Ter) c.3256_3341del (p.Ala1086Ter) c.2887_2972del (p.Ala963Ter) | |
| 5 | g.112839330G>A | CA16029531 | APC | c.3401G>A (n.3401G>A) c.3790G>A (p.Ala1264Thr) c.*3742G>A (n.*3742G>A) c.3682G>A (p.Ala1228Thr) c.3736G>A (p.Ala1246Thr) c.2089G>A c.*3058G>A (n.*3058G>A) c.230+10358G>A c.3766G>A (p.Ala1256Thr) c.3661G>A (p.Ala1221Thr) c.3652G>A (p.Ala1218Thr) c.3613G>A (p.Ala1205Thr) c.3559G>A (p.Ala1187Thr) c.3463G>A (p.Ala1155Thr) c.3433G>A (p.Ala1145Thr) c.3358G>A (p.Ala1120Thr) c.3256G>A (p.Ala1086Thr) c.2887G>A (p.Ala963Thr) | dbSNP |
| 5 | g.112839330G>C | CA16029532 | APC | c.3401G>C (n.3401G>C) c.3790G>C (p.Ala1264Pro) c.*3742G>C (n.*3742G>C) c.3682G>C (p.Ala1228Pro) c.3736G>C (p.Ala1246Pro) c.2089G>C c.*3058G>C (n.*3058G>C) c.230+10358G>C c.3766G>C (p.Ala1256Pro) c.3661G>C (p.Ala1221Pro) c.3652G>C (p.Ala1218Pro) c.3613G>C (p.Ala1205Pro) c.3559G>C (p.Ala1187Pro) c.3463G>C (p.Ala1155Pro) c.3433G>C (p.Ala1145Pro) c.3358G>C (p.Ala1120Pro) c.3256G>C (p.Ala1086Pro) c.2887G>C (p.Ala963Pro) | dbSNP |
| 5 | g.112839330G>T | CA16029533 | APC | c.3401G>T (n.3401G>T) c.3790G>T (p.Ala1264Ser) c.*3742G>T (n.*3742G>T) c.3682G>T (p.Ala1228Ser) c.3736G>T (p.Ala1246Ser) c.2089G>T c.*3058G>T (n.*3058G>T) c.230+10358G>T c.3766G>T (p.Ala1256Ser) c.3661G>T (p.Ala1221Ser) c.3652G>T (p.Ala1218Ser) c.3613G>T (p.Ala1205Ser) c.3559G>T (p.Ala1187Ser) c.3463G>T (p.Ala1155Ser) c.3433G>T (p.Ala1145Ser) c.3358G>T (p.Ala1120Ser) c.3256G>T (p.Ala1086Ser) c.2887G>T (p.Ala963Ser) | dbSNP |
| 5 | g.112839331C>A | CA16029534 | APC | c.3402C>A (n.3402C>A) c.3791C>A (p.Ala1264Asp) c.*3743C>A (n.*3743C>A) c.3683C>A (p.Ala1228Asp) c.3737C>A (p.Ala1246Asp) c.2090C>A c.*3059C>A (n.*3059C>A) c.230+10359C>A c.3767C>A (p.Ala1256Asp) c.3662C>A (p.Ala1221Asp) c.3653C>A (p.Ala1218Asp) c.3614C>A (p.Ala1205Asp) c.3560C>A (p.Ala1187Asp) c.3464C>A (p.Ala1155Asp) c.3434C>A (p.Ala1145Asp) c.3359C>A (p.Ala1120Asp) c.3257C>A (p.Ala1086Asp) c.2888C>A (p.Ala963Asp) | dbSNP |
| 5 | g.112839331C>G | CA16029535 | APC | c.3402C>G (n.3402C>G) c.3791C>G (p.Ala1264Gly) c.*3743C>G (n.*3743C>G) c.3683C>G (p.Ala1228Gly) c.3737C>G (p.Ala1246Gly) c.2090C>G c.*3059C>G (n.*3059C>G) c.230+10359C>G c.3767C>G (p.Ala1256Gly) c.3662C>G (p.Ala1221Gly) c.3653C>G (p.Ala1218Gly) c.3614C>G (p.Ala1205Gly) c.3560C>G (p.Ala1187Gly) c.3464C>G (p.Ala1155Gly) c.3434C>G (p.Ala1145Gly) c.3359C>G (p.Ala1120Gly) c.3257C>G (p.Ala1086Gly) c.2888C>G (p.Ala963Gly) | dbSNP |
| 5 | g.112839331C>T | CA16029536 | APC | c.3402C>T (n.3402C>T) c.3791C>T (p.Ala1264Val) c.*3743C>T (n.*3743C>T) c.3683C>T (p.Ala1228Val) c.3737C>T (p.Ala1246Val) c.2090C>T c.*3059C>T (n.*3059C>T) c.230+10359C>T c.3767C>T (p.Ala1256Val) c.3662C>T (p.Ala1221Val) c.3653C>T (p.Ala1218Val) c.3614C>T (p.Ala1205Val) c.3560C>T (p.Ala1187Val) c.3464C>T (p.Ala1155Val) c.3434C>T (p.Ala1145Val) c.3359C>T (p.Ala1120Val) c.3257C>T (p.Ala1086Val) c.2888C>T (p.Ala963Val) | dbSNP |
| 5 | g.112839331_112839332del | CA645543596 | APC | c.3402_3403del (n.3402_3403del) c.3791_3792del (p.Ala1264GlyfsTer9) c.*3743_*3744del (n.*3743_*3744del) c.3683_3684del (p.Ala1228GlyfsTer9) c.3737_3738del (p.Ala1246GlyfsTer9) c.2090_2091del c.*3059_*3060del (n.*3059_*3060del) c.230+10359_230+10360del c.3767_3768del (p.Ala1256GlyfsTer9) c.3662_3663del (p.Ala1221GlyfsTer9) c.3653_3654del (p.Ala1218GlyfsTer9) c.3614_3615del (p.Ala1205GlyfsTer9) c.3560_3561del (p.Ala1187GlyfsTer9) c.3464_3465del (p.Ala1155GlyfsTer9) c.3434_3435del (p.Ala1145GlyfsTer9) c.3359_3360del (p.Ala1120GlyfsTer9) c.3257_3258del (p.Ala1086GlyfsTer9) c.2888_2889del (p.Ala963GlyfsTer9) | COSMIC |
| 5 | g.112839332T>A | CA445964001 | APC | c.3403T>A (n.3403T>A) c.3792T>A (p.Ala1264=) c.*3744T>A (n.*3744T>A) c.3684T>A (p.Ala1228=) c.3738T>A (p.Ala1246=) c.2091T>A c.*3060T>A (n.*3060T>A) c.230+10360T>A c.3768T>A (p.Ala1256=) c.3663T>A (p.Ala1221=) c.3654T>A (p.Ala1218=) c.3615T>A (p.Ala1205=) c.3561T>A (p.Ala1187=) c.3465T>A (p.Ala1155=) c.3435T>A (p.Ala1145=) c.3360T>A (p.Ala1120=) c.3258T>A (p.Ala1086=) c.2889T>A (p.Ala963=) | dbSNP |