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.112839099_112839103del | CA658760927 | APC | c.3170_3174del (n.3170_3174del) c.3559_3563del (p.Glu1187ThrfsTer8) c.*3511_*3515del (n.*3511_*3515del) c.3451_3455del (p.Glu1151ThrfsTer8) c.3505_3509del (p.Glu1169ThrfsTer8) c.1858_1862del c.*2827_*2831del (n.*2827_*2831del) c.230+10127_230+10131del c.3535_3539del (p.Glu1179ThrfsTer8) c.3430_3434del (p.Glu1144ThrfsTer8) c.3421_3425del (p.Glu1141ThrfsTer8) c.3382_3386del (p.Glu1128ThrfsTer8) c.3328_3332del (p.Glu1110ThrfsTer8) c.3232_3236del (p.Glu1078ThrfsTer8) c.3202_3206del (p.Glu1068ThrfsTer8) c.3127_3131del (p.Glu1043ThrfsTer8) c.3025_3029del (p.Glu1009ThrfsTer8) c.2656_2660del (p.Glu886ThrfsTer8) | ClinVar dbSNP |
| 5 | g.112839101G>A | CA445963538 | APC | c.3172G>A (n.3172G>A) c.3561G>A (p.Glu1187=) c.*3513G>A (n.*3513G>A) c.3453G>A (p.Glu1151=) c.3507G>A (p.Glu1169=) c.1860G>A c.*2829G>A (n.*2829G>A) c.230+10129G>A c.3537G>A (p.Glu1179=) c.3432G>A (p.Glu1144=) c.3423G>A (p.Glu1141=) c.3384G>A (p.Glu1128=) c.3330G>A (p.Glu1110=) c.3234G>A (p.Glu1078=) c.3204G>A (p.Glu1068=) c.3129G>A (p.Glu1043=) c.3027G>A (p.Glu1009=) c.2658G>A (p.Glu886=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112839101G>C | CA16029036 | APC | c.3172G>C (n.3172G>C) c.3561G>C (p.Glu1187Asp) c.*3513G>C (n.*3513G>C) c.3453G>C (p.Glu1151Asp) c.3507G>C (p.Glu1169Asp) c.1860G>C c.*2829G>C (n.*2829G>C) c.230+10129G>C c.3537G>C (p.Glu1179Asp) c.3432G>C (p.Glu1144Asp) c.3423G>C (p.Glu1141Asp) c.3384G>C (p.Glu1128Asp) c.3330G>C (p.Glu1110Asp) c.3234G>C (p.Glu1078Asp) c.3204G>C (p.Glu1068Asp) c.3129G>C (p.Glu1043Asp) c.3027G>C (p.Glu1009Asp) c.2658G>C (p.Glu886Asp) | dbSNP |
| 5 | g.112839101G= | CA1573488736 | APC | c.3172G= (n.3172G=) c.3561G= (p.Glu1187=) c.*3513G= (n.*3513G=) c.3453G= (p.Glu1151=) c.3507G= (p.Glu1169=) c.1860G= c.*2829G= (n.*2829G=) c.230+10129G= c.3537G= (p.Glu1179=) c.3432G= (p.Glu1144=) c.3423G= (p.Glu1141=) c.3384G= (p.Glu1128=) c.3330G= (p.Glu1110=) c.3234G= (p.Glu1078=) c.3204G= (p.Glu1068=) c.3129G= (p.Glu1043=) c.3027G= (p.Glu1009=) c.2658G= (p.Glu886=) | |
| 5 | g.112839101G>T | CA16029037 | APC | c.3172G>T (n.3172G>T) c.3561G>T (p.Glu1187Asp) c.*3513G>T (n.*3513G>T) c.3453G>T (p.Glu1151Asp) c.3507G>T (p.Glu1169Asp) c.1860G>T c.*2829G>T (n.*2829G>T) c.230+10129G>T c.3537G>T (p.Glu1179Asp) c.3432G>T (p.Glu1144Asp) c.3423G>T (p.Glu1141Asp) c.3384G>T (p.Glu1128Asp) c.3330G>T (p.Glu1110Asp) c.3234G>T (p.Glu1078Asp) c.3204G>T (p.Glu1068Asp) c.3129G>T (p.Glu1043Asp) c.3027G>T (p.Glu1009Asp) c.2658G>T (p.Glu886Asp) | ClinVar COSMIC |
| 5 | g.112839101dup | CA2695204942 | APC | c.3172dup (n.3172dup) c.3561dup (p.Lys1188GlufsTer9) c.*3513dup (n.*3513dup) c.3453dup (p.Lys1152GlufsTer9) c.3507dup (p.Lys1170GlufsTer9) c.1860dup c.*2829dup (n.*2829dup) c.230+10129dup c.3537dup (p.Lys1180GlufsTer9) c.3432dup (p.Lys1145GlufsTer9) c.3423dup (p.Lys1142GlufsTer9) c.3384dup (p.Lys1129GlufsTer9) c.3330dup (p.Lys1111GlufsTer9) c.3234dup (p.Lys1079GlufsTer9) c.3204dup (p.Lys1069GlufsTer9) c.3129dup (p.Lys1044GlufsTer9) c.3027dup (p.Lys1010GlufsTer9) c.2658dup (p.Lys887GlufsTer9) | |
| 5 | g.112839102A>C | CA16029038 | APC | c.3173A>C (n.3173A>C) c.3562A>C (p.Lys1188Gln) c.*3514A>C (n.*3514A>C) c.3454A>C (p.Lys1152Gln) c.3508A>C (p.Lys1170Gln) c.1861A>C c.*2830A>C (n.*2830A>C) c.230+10130A>C c.3538A>C (p.Lys1180Gln) c.3433A>C (p.Lys1145Gln) c.3424A>C (p.Lys1142Gln) c.3385A>C (p.Lys1129Gln) c.3331A>C (p.Lys1111Gln) c.3235A>C (p.Lys1079Gln) c.3205A>C (p.Lys1069Gln) c.3130A>C (p.Lys1044Gln) c.3028A>C (p.Lys1010Gln) c.2659A>C (p.Lys887Gln) | ClinVar dbSNP |
| 5 | g.112839102A>G | CA16029039 | APC | c.3173A>G (n.3173A>G) c.3562A>G (p.Lys1188Glu) c.*3514A>G (n.*3514A>G) c.3454A>G (p.Lys1152Glu) c.3508A>G (p.Lys1170Glu) c.1861A>G c.*2830A>G (n.*2830A>G) c.230+10130A>G c.3538A>G (p.Lys1180Glu) c.3433A>G (p.Lys1145Glu) c.3424A>G (p.Lys1142Glu) c.3385A>G (p.Lys1129Glu) c.3331A>G (p.Lys1111Glu) c.3235A>G (p.Lys1079Glu) c.3205A>G (p.Lys1069Glu) c.3130A>G (p.Lys1044Glu) c.3028A>G (p.Lys1010Glu) c.2659A>G (p.Lys887Glu) | ClinVar dbSNP COSMIC |
| 5 | g.112839102A>T | CA16029040 | APC | c.3173A>T (n.3173A>T) c.3562A>T (p.Lys1188Ter) c.*3514A>T (n.*3514A>T) c.3454A>T (p.Lys1152Ter) c.3508A>T (p.Lys1170Ter) c.1861A>T c.*2830A>T (n.*2830A>T) c.230+10130A>T c.3538A>T (p.Lys1180Ter) c.3433A>T (p.Lys1145Ter) c.3424A>T (p.Lys1142Ter) c.3385A>T (p.Lys1129Ter) c.3331A>T (p.Lys1111Ter) c.3235A>T (p.Lys1079Ter) c.3205A>T (p.Lys1069Ter) c.3130A>T (p.Lys1044Ter) c.3028A>T (p.Lys1010Ter) c.2659A>T (p.Lys887Ter) | dbSNP |
| 5 | g.112839104dup | CA2582341517 | APC | c.3175dup (n.3175dup) c.3564dup (p.Arg1189ThrfsTer8) c.*3516dup (n.*3516dup) c.3456dup (p.Arg1153ThrfsTer8) c.3510dup (p.Arg1171ThrfsTer8) c.1863dup c.*2832dup (n.*2832dup) c.230+10132dup c.3540dup (p.Arg1181ThrfsTer8) c.3435dup (p.Arg1146ThrfsTer8) c.3426dup (p.Arg1143ThrfsTer8) c.3387dup (p.Arg1130ThrfsTer8) c.3333dup (p.Arg1112ThrfsTer8) c.3237dup (p.Arg1080ThrfsTer8) c.3207dup (p.Arg1070ThrfsTer8) c.3132dup (p.Arg1045ThrfsTer8) c.3030dup (p.Arg1011ThrfsTer8) c.2661dup (p.Arg888ThrfsTer8) | ClinVar |
| 5 | g.112839104del | CA2695204943 | APC | c.3175del (n.3175del) c.3564del (p.Lys1188AsnfsTer12) c.*3516del (n.*3516del) c.3456del (p.Lys1152AsnfsTer12) c.3510del (p.Lys1170AsnfsTer12) c.1863del c.*2832del (n.*2832del) c.230+10132del c.3540del (p.Lys1180AsnfsTer12) c.3435del (p.Lys1145AsnfsTer12) c.3426del (p.Lys1142AsnfsTer12) c.3387del (p.Lys1129AsnfsTer12) c.3333del (p.Lys1111AsnfsTer12) c.3237del (p.Lys1079AsnfsTer12) c.3207del (p.Lys1069AsnfsTer12) c.3132del (p.Lys1044AsnfsTer12) c.3030del (p.Lys1010AsnfsTer12) c.2661del (p.Lys887AsnfsTer12) | |
| 5 | g.112839102_112839103insG | CA658760928 | APC | c.3173_3174insG (n.3173_3174insG) c.3562_3563insG (p.Lys1188ArgfsTer9) c.*3514_*3515insG (n.*3514_*3515insG) c.3454_3455insG (p.Lys1152ArgfsTer9) c.3508_3509insG (p.Lys1170ArgfsTer9) c.1861_1862insG c.*2830_*2831insG (n.*2830_*2831insG) c.230+10130_230+10131insG c.3538_3539insG (p.Lys1180ArgfsTer9) c.3433_3434insG (p.Lys1145ArgfsTer9) c.3424_3425insG (p.Lys1142ArgfsTer9) c.3385_3386insG (p.Lys1129ArgfsTer9) c.3331_3332insG (p.Lys1111ArgfsTer9) c.3235_3236insG (p.Lys1079ArgfsTer9) c.3205_3206insG (p.Lys1069ArgfsTer9) c.3130_3131insG (p.Lys1044ArgfsTer9) c.3028_3029insG (p.Lys1010ArgfsTer9) c.2659_2660insG (p.Lys887ArgfsTer9) | |
| 5 | g.112839103A= | CA1573488745 | APC | c.3174A= (n.3174A=) c.3563A= (p.Lys1188=) c.*3515A= (n.*3515A=) c.3455A= (p.Lys1152=) c.3509A= (p.Lys1170=) c.1862A= c.*2831A= (n.*2831A=) c.230+10131A= c.3539A= (p.Lys1180=) c.3434A= (p.Lys1145=) c.3425A= (p.Lys1142=) c.3386A= (p.Lys1129=) c.3332A= (p.Lys1111=) c.3236A= (p.Lys1079=) c.3206A= (p.Lys1069=) c.3131A= (p.Lys1044=) c.3029A= (p.Lys1010=) c.2660A= (p.Lys887=) | |
| 5 | g.112839103A>C | CA16029041 | APC | c.3174A>C (n.3174A>C) c.3563A>C (p.Lys1188Thr) c.*3515A>C (n.*3515A>C) c.3455A>C (p.Lys1152Thr) c.3509A>C (p.Lys1170Thr) c.1862A>C c.*2831A>C (n.*2831A>C) c.230+10131A>C c.3539A>C (p.Lys1180Thr) c.3434A>C (p.Lys1145Thr) c.3425A>C (p.Lys1142Thr) c.3386A>C (p.Lys1129Thr) c.3332A>C (p.Lys1111Thr) c.3236A>C (p.Lys1079Thr) c.3206A>C (p.Lys1069Thr) c.3131A>C (p.Lys1044Thr) c.3029A>C (p.Lys1010Thr) c.2660A>C (p.Lys887Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112839103A>G | CA035593 | APC | c.3174A>G (n.3174A>G) c.3563A>G (p.Lys1188Arg) c.*3515A>G (n.*3515A>G) c.3455A>G (p.Lys1152Arg) c.3509A>G (p.Lys1170Arg) c.1862A>G c.*2831A>G (n.*2831A>G) c.230+10131A>G c.3539A>G (p.Lys1180Arg) c.3434A>G (p.Lys1145Arg) c.3425A>G (p.Lys1142Arg) c.3386A>G (p.Lys1129Arg) c.3332A>G (p.Lys1111Arg) c.3236A>G (p.Lys1079Arg) c.3206A>G (p.Lys1069Arg) c.3131A>G (p.Lys1044Arg) c.3029A>G (p.Lys1010Arg) c.2660A>G (p.Lys887Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839103A>T | CA16029042 | APC | c.3174A>T (n.3174A>T) c.3563A>T (p.Lys1188Ile) c.*3515A>T (n.*3515A>T) c.3455A>T (p.Lys1152Ile) c.3509A>T (p.Lys1170Ile) c.1862A>T c.*2831A>T (n.*2831A>T) c.230+10131A>T c.3539A>T (p.Lys1180Ile) c.3434A>T (p.Lys1145Ile) c.3425A>T (p.Lys1142Ile) c.3386A>T (p.Lys1129Ile) c.3332A>T (p.Lys1111Ile) c.3236A>T (p.Lys1079Ile) c.3206A>T (p.Lys1069Ile) c.3131A>T (p.Lys1044Ile) c.3029A>T (p.Lys1010Ile) c.2660A>T (p.Lys887Ile) | dbSNP |
| 5 | g.112839104A= | CA1573488751 | APC | c.3175A= (n.3175A=) c.3564A= (p.Lys1188=) c.*3516A= (n.*3516A=) c.3456A= (p.Lys1152=) c.3510A= (p.Lys1170=) c.1863A= c.*2832A= (n.*2832A=) c.230+10132A= c.3540A= (p.Lys1180=) c.3435A= (p.Lys1145=) c.3426A= (p.Lys1142=) c.3387A= (p.Lys1129=) c.3333A= (p.Lys1111=) c.3237A= (p.Lys1079=) c.3207A= (p.Lys1069=) c.3132A= (p.Lys1044=) c.3030A= (p.Lys1010=) c.2661A= (p.Lys887=) | |
| 5 | g.112839104A>C | CA16029043 | APC | c.3175A>C (n.3175A>C) c.3564A>C (p.Lys1188Asn) c.*3516A>C (n.*3516A>C) c.3456A>C (p.Lys1152Asn) c.3510A>C (p.Lys1170Asn) c.1863A>C c.*2832A>C (n.*2832A>C) c.230+10132A>C c.3540A>C (p.Lys1180Asn) c.3435A>C (p.Lys1145Asn) c.3426A>C (p.Lys1142Asn) c.3387A>C (p.Lys1129Asn) c.3333A>C (p.Lys1111Asn) c.3237A>C (p.Lys1079Asn) c.3207A>C (p.Lys1069Asn) c.3132A>C (p.Lys1044Asn) c.3030A>C (p.Lys1010Asn) c.2661A>C (p.Lys887Asn) | dbSNP |
| 5 | g.112839104A>G | CA008467 | APC | c.3175A>G (n.3175A>G) c.3564A>G (p.Lys1188=) c.*3516A>G (n.*3516A>G) c.3456A>G (p.Lys1152=) c.3510A>G (p.Lys1170=) c.1863A>G c.*2832A>G (n.*2832A>G) c.230+10132A>G c.3540A>G (p.Lys1180=) c.3435A>G (p.Lys1145=) c.3426A>G (p.Lys1142=) c.3387A>G (p.Lys1129=) c.3333A>G (p.Lys1111=) c.3237A>G (p.Lys1079=) c.3207A>G (p.Lys1069=) c.3132A>G (p.Lys1044=) c.3030A>G (p.Lys1010=) c.2661A>G (p.Lys887=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112839104A>T | CA16029044 | APC | c.3175A>T (n.3175A>T) c.3564A>T (p.Lys1188Asn) c.*3516A>T (n.*3516A>T) c.3456A>T (p.Lys1152Asn) c.3510A>T (p.Lys1170Asn) c.1863A>T c.*2832A>T (n.*2832A>T) c.230+10132A>T c.3540A>T (p.Lys1180Asn) c.3435A>T (p.Lys1145Asn) c.3426A>T (p.Lys1142Asn) c.3387A>T (p.Lys1129Asn) c.3333A>T (p.Lys1111Asn) c.3237A>T (p.Lys1079Asn) c.3207A>T (p.Lys1069Asn) c.3132A>T (p.Lys1044Asn) c.3030A>T (p.Lys1010Asn) c.2661A>T (p.Lys887Asn) | dbSNP |
| 5 | g.112839105C>A | CA16029045 | APC | c.3176C>A (n.3176C>A) c.3565C>A (p.Arg1189Ser) c.*3517C>A (n.*3517C>A) c.3457C>A (p.Arg1153Ser) c.3511C>A (p.Arg1171Ser) c.1864C>A c.*2833C>A (n.*2833C>A) c.230+10133C>A c.3541C>A (p.Arg1181Ser) c.3436C>A (p.Arg1146Ser) c.3427C>A (p.Arg1143Ser) c.3388C>A (p.Arg1130Ser) c.3334C>A (p.Arg1112Ser) c.3238C>A (p.Arg1080Ser) c.3208C>A (p.Arg1070Ser) c.3133C>A (p.Arg1045Ser) c.3031C>A (p.Arg1011Ser) c.2662C>A (p.Arg888Ser) | dbSNP |
| 5 | g.112839105C= | CA1573488754 | APC | c.3176C= (n.3176C=) c.3565C= (p.Arg1189=) c.*3517C= (n.*3517C=) c.3457C= (p.Arg1153=) c.3511C= (p.Arg1171=) c.1864C= c.*2833C= (n.*2833C=) c.230+10133C= c.3541C= (p.Arg1181=) c.3436C= (p.Arg1146=) c.3427C= (p.Arg1143=) c.3388C= (p.Arg1130=) c.3334C= (p.Arg1112=) c.3238C= (p.Arg1080=) c.3208C= (p.Arg1070=) c.3133C= (p.Arg1045=) c.3031C= (p.Arg1011=) c.2662C= (p.Arg888=) | |
| 5 | g.112839105C>G | CA16029046 | APC | c.3176C>G (n.3176C>G) c.3565C>G (p.Arg1189Gly) c.*3517C>G (n.*3517C>G) c.3457C>G (p.Arg1153Gly) c.3511C>G (p.Arg1171Gly) c.1864C>G c.*2833C>G (n.*2833C>G) c.230+10133C>G c.3541C>G (p.Arg1181Gly) c.3436C>G (p.Arg1146Gly) c.3427C>G (p.Arg1143Gly) c.3388C>G (p.Arg1130Gly) c.3334C>G (p.Arg1112Gly) c.3238C>G (p.Arg1080Gly) c.3208C>G (p.Arg1070Gly) c.3133C>G (p.Arg1045Gly) c.3031C>G (p.Arg1011Gly) c.2662C>G (p.Arg888Gly) | ClinVar |
| 5 | g.112839105C>T | CA008475 | APC | c.3176C>T (n.3176C>T) c.3565C>T (p.Arg1189Cys) c.*3517C>T (n.*3517C>T) c.3457C>T (p.Arg1153Cys) c.3511C>T (p.Arg1171Cys) c.1864C>T c.*2833C>T (n.*2833C>T) c.230+10133C>T c.3541C>T (p.Arg1181Cys) c.3436C>T (p.Arg1146Cys) c.3427C>T (p.Arg1143Cys) c.3388C>T (p.Arg1130Cys) c.3334C>T (p.Arg1112Cys) c.3238C>T (p.Arg1080Cys) c.3208C>T (p.Arg1070Cys) c.3133C>T (p.Arg1045Cys) c.3031C>T (p.Arg1011Cys) c.2662C>T (p.Arg888Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839106G>A | CA035612 | APC | c.3177G>A (n.3177G>A) c.3566G>A (p.Arg1189His) c.*3518G>A (n.*3518G>A) c.3458G>A (p.Arg1153His) c.3512G>A (p.Arg1171His) c.1865G>A c.*2834G>A (n.*2834G>A) c.230+10134G>A c.3542G>A (p.Arg1181His) c.3437G>A (p.Arg1146His) c.3428G>A (p.Arg1143His) c.3389G>A (p.Arg1130His) c.3335G>A (p.Arg1112His) c.3239G>A (p.Arg1080His) c.3209G>A (p.Arg1070His) c.3134G>A (p.Arg1045His) c.3032G>A (p.Arg1011His) c.2663G>A (p.Arg888His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839106G>C | CA16029047 | APC | c.3177G>C (n.3177G>C) c.3566G>C (p.Arg1189Pro) c.*3518G>C (n.*3518G>C) c.3458G>C (p.Arg1153Pro) c.3512G>C (p.Arg1171Pro) c.1865G>C c.*2834G>C (n.*2834G>C) c.230+10134G>C c.3542G>C (p.Arg1181Pro) c.3437G>C (p.Arg1146Pro) c.3428G>C (p.Arg1143Pro) c.3389G>C (p.Arg1130Pro) c.3335G>C (p.Arg1112Pro) c.3239G>C (p.Arg1080Pro) c.3209G>C (p.Arg1070Pro) c.3134G>C (p.Arg1045Pro) c.3032G>C (p.Arg1011Pro) c.2663G>C (p.Arg888Pro) | dbSNP |
| 5 | g.112839106G= | CA1573488762 | APC | c.3177G= (n.3177G=) c.3566G= (p.Arg1189=) c.*3518G= (n.*3518G=) c.3458G= (p.Arg1153=) c.3512G= (p.Arg1171=) c.1865G= c.*2834G= (n.*2834G=) c.230+10134G= c.3542G= (p.Arg1181=) c.3437G= (p.Arg1146=) c.3428G= (p.Arg1143=) c.3389G= (p.Arg1130=) c.3335G= (p.Arg1112=) c.3239G= (p.Arg1080=) c.3209G= (p.Arg1070=) c.3134G= (p.Arg1045=) c.3032G= (p.Arg1011=) c.2663G= (p.Arg888=) | |
| 5 | g.112839106G>T | CA16029048 | APC | c.3177G>T (n.3177G>T) c.3566G>T (p.Arg1189Leu) c.*3518G>T (n.*3518G>T) c.3458G>T (p.Arg1153Leu) c.3512G>T (p.Arg1171Leu) c.1865G>T c.*2834G>T (n.*2834G>T) c.230+10134G>T c.3542G>T (p.Arg1181Leu) c.3437G>T (p.Arg1146Leu) c.3428G>T (p.Arg1143Leu) c.3389G>T (p.Arg1130Leu) c.3335G>T (p.Arg1112Leu) c.3239G>T (p.Arg1080Leu) c.3209G>T (p.Arg1070Leu) c.3134G>T (p.Arg1045Leu) c.3032G>T (p.Arg1011Leu) c.2663G>T (p.Arg888Leu) | ClinVar gnomAD v4 |
| 5 | g.112839106_112839107del | CA645543574 | APC | c.3177_3178del (n.3177_3178del) c.3566_3567del (p.Arg1189ProfsTer7) c.*3518_*3519del (n.*3518_*3519del) c.3458_3459del (p.Arg1153ProfsTer7) c.3512_3513del (p.Arg1171ProfsTer7) c.1865_1866del c.*2834_*2835del (n.*2834_*2835del) c.230+10134_230+10135del c.3542_3543del (p.Arg1181ProfsTer7) c.3437_3438del (p.Arg1146ProfsTer7) c.3428_3429del (p.Arg1143ProfsTer7) c.3389_3390del (p.Arg1130ProfsTer7) c.3335_3336del (p.Arg1112ProfsTer7) c.3239_3240del (p.Arg1080ProfsTer7) c.3209_3210del (p.Arg1070ProfsTer7) c.3134_3135del (p.Arg1045ProfsTer7) c.3032_3033del (p.Arg1011ProfsTer7) c.2663_2664del (p.Arg888ProfsTer7) | COSMIC |
| 5 | g.112839107T>A | CA445963541 | APC | c.3178T>A (n.3178T>A) c.3567T>A (p.Arg1189=) c.*3519T>A (n.*3519T>A) c.3459T>A (p.Arg1153=) c.3513T>A (p.Arg1171=) c.1866T>A c.*2835T>A (n.*2835T>A) c.230+10135T>A c.3543T>A (p.Arg1181=) c.3438T>A (p.Arg1146=) c.3429T>A (p.Arg1143=) c.3390T>A (p.Arg1130=) c.3336T>A (p.Arg1112=) c.3240T>A (p.Arg1080=) c.3210T>A (p.Arg1070=) c.3135T>A (p.Arg1045=) c.3033T>A (p.Arg1011=) c.2664T>A (p.Arg888=) | ClinVar dbSNP |
| 5 | g.112839107T>C | CA445963542 | APC | c.3178T>C (n.3178T>C) c.3567T>C (p.Arg1189=) c.*3519T>C (n.*3519T>C) c.3459T>C (p.Arg1153=) c.3513T>C (p.Arg1171=) c.1866T>C c.*2835T>C (n.*2835T>C) c.230+10135T>C c.3543T>C (p.Arg1181=) c.3438T>C (p.Arg1146=) c.3429T>C (p.Arg1143=) c.3390T>C (p.Arg1130=) c.3336T>C (p.Arg1112=) c.3240T>C (p.Arg1080=) c.3210T>C (p.Arg1070=) c.3135T>C (p.Arg1045=) c.3033T>C (p.Arg1011=) c.2664T>C (p.Arg888=) | dbSNP |
| 5 | g.112839107T>G | CA445963543 | APC | c.3178T>G (n.3178T>G) c.3567T>G (p.Arg1189=) c.*3519T>G (n.*3519T>G) c.3459T>G (p.Arg1153=) c.3513T>G (p.Arg1171=) c.1866T>G c.*2835T>G (n.*2835T>G) c.230+10135T>G c.3543T>G (p.Arg1181=) c.3438T>G (p.Arg1146=) c.3429T>G (p.Arg1143=) c.3390T>G (p.Arg1130=) c.3336T>G (p.Arg1112=) c.3240T>G (p.Arg1080=) c.3210T>G (p.Arg1070=) c.3135T>G (p.Arg1045=) c.3033T>G (p.Arg1011=) c.2664T>G (p.Arg888=) | dbSNP |
| 5 | g.112839107dup | CA658760929 | APC | c.3178dup (n.3178dup) c.3567dup (p.His1190SerfsTer7) c.*3519dup (n.*3519dup) c.3459dup (p.His1154SerfsTer7) c.3513dup (p.His1172SerfsTer7) c.1866dup c.*2835dup (n.*2835dup) c.230+10135dup c.3543dup (p.His1182SerfsTer7) c.3438dup (p.His1147SerfsTer7) c.3429dup (p.His1144SerfsTer7) c.3390dup (p.His1131SerfsTer7) c.3336dup (p.His1113SerfsTer7) c.3240dup (p.His1081SerfsTer7) c.3210dup (p.His1071SerfsTer7) c.3135dup (p.His1046SerfsTer7) c.3033dup (p.His1012SerfsTer7) c.2664dup (p.His889SerfsTer7) | |
| 5 | g.112839108C>A | CA16029049 | APC | c.3179C>A (n.3179C>A) c.3568C>A (p.His1190Asn) c.*3520C>A (n.*3520C>A) c.3460C>A (p.His1154Asn) c.3514C>A (p.His1172Asn) c.1867C>A c.*2836C>A (n.*2836C>A) c.230+10136C>A c.3544C>A (p.His1182Asn) c.3439C>A (p.His1147Asn) c.3430C>A (p.His1144Asn) c.3391C>A (p.His1131Asn) c.3337C>A (p.His1113Asn) c.3241C>A (p.His1081Asn) c.3211C>A (p.His1071Asn) c.3136C>A (p.His1046Asn) c.3034C>A (p.His1012Asn) c.2665C>A (p.His889Asn) | dbSNP gnomAD v4 |
| 5 | g.112839108C>G | CA16029050 | APC | c.3179C>G (n.3179C>G) c.3568C>G (p.His1190Asp) c.*3520C>G (n.*3520C>G) c.3460C>G (p.His1154Asp) c.3514C>G (p.His1172Asp) c.1867C>G c.*2836C>G (n.*2836C>G) c.230+10136C>G c.3544C>G (p.His1182Asp) c.3439C>G (p.His1147Asp) c.3430C>G (p.His1144Asp) c.3391C>G (p.His1131Asp) c.3337C>G (p.His1113Asp) c.3241C>G (p.His1081Asp) c.3211C>G (p.His1071Asp) c.3136C>G (p.His1046Asp) c.3034C>G (p.His1012Asp) c.2665C>G (p.His889Asp) | dbSNP |
| 5 | g.112839108C>T | CA16029051 | APC | c.3179C>T (n.3179C>T) c.3568C>T (p.His1190Tyr) c.*3520C>T (n.*3520C>T) c.3460C>T (p.His1154Tyr) c.3514C>T (p.His1172Tyr) c.1867C>T c.*2836C>T (n.*2836C>T) c.230+10136C>T c.3544C>T (p.His1182Tyr) c.3439C>T (p.His1147Tyr) c.3430C>T (p.His1144Tyr) c.3391C>T (p.His1131Tyr) c.3337C>T (p.His1113Tyr) c.3241C>T (p.His1081Tyr) c.3211C>T (p.His1071Tyr) c.3136C>T (p.His1046Tyr) c.3034C>T (p.His1012Tyr) c.2665C>T (p.His889Tyr) | dbSNP |
| 5 | g.112839109del | CA658760932 | APC | c.3180del (n.3180del) c.3569del (p.His1190LeufsTer10) c.*3521del (n.*3521del) c.3461del (p.His1154LeufsTer10) c.3515del (p.His1172LeufsTer10) c.1868del c.*2837del (n.*2837del) c.230+10137del c.3545del (p.His1182LeufsTer10) c.3440del (p.His1147LeufsTer10) c.3431del (p.His1144LeufsTer10) c.3392del (p.His1131LeufsTer10) c.3338del (p.His1113LeufsTer10) c.3242del (p.His1081LeufsTer10) c.3212del (p.His1071LeufsTer10) c.3137del (p.His1046LeufsTer10) c.3035del (p.His1012LeufsTer10) c.2666del (p.His889LeufsTer10) | |
| 5 | g.112839109A= | CA1573488777 | APC | c.3180A= (n.3180A=) c.3569A= (p.His1190=) c.*3521A= (n.*3521A=) c.3461A= (p.His1154=) c.3515A= (p.His1172=) c.1868A= c.*2837A= (n.*2837A=) c.230+10137A= c.3545A= (p.His1182=) c.3440A= (p.His1147=) c.3431A= (p.His1144=) c.3392A= (p.His1131=) c.3338A= (p.His1113=) c.3242A= (p.His1081=) c.3212A= (p.His1071=) c.3137A= (p.His1046=) c.3035A= (p.His1012=) c.2666A= (p.His889=) | |
| 5 | g.112839109A>C | CA16029052 | APC | c.3180A>C (n.3180A>C) c.3569A>C (p.His1190Pro) c.*3521A>C (n.*3521A>C) c.3461A>C (p.His1154Pro) c.3515A>C (p.His1172Pro) c.1868A>C c.*2837A>C (n.*2837A>C) c.230+10137A>C c.3545A>C (p.His1182Pro) c.3440A>C (p.His1147Pro) c.3431A>C (p.His1144Pro) c.3392A>C (p.His1131Pro) c.3338A>C (p.His1113Pro) c.3242A>C (p.His1081Pro) c.3212A>C (p.His1071Pro) c.3137A>C (p.His1046Pro) c.3035A>C (p.His1012Pro) c.2666A>C (p.His889Pro) | |
| 5 | g.112839109A>G | CA16029053 | APC | c.3180A>G (n.3180A>G) c.3569A>G (p.His1190Arg) c.*3521A>G (n.*3521A>G) c.3461A>G (p.His1154Arg) c.3515A>G (p.His1172Arg) c.1868A>G c.*2837A>G (n.*2837A>G) c.230+10137A>G c.3545A>G (p.His1182Arg) c.3440A>G (p.His1147Arg) c.3431A>G (p.His1144Arg) c.3392A>G (p.His1131Arg) c.3338A>G (p.His1113Arg) c.3242A>G (p.His1081Arg) c.3212A>G (p.His1071Arg) c.3137A>G (p.His1046Arg) c.3035A>G (p.His1012Arg) c.2666A>G (p.His889Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112839109A>T | CA16029054 | APC | c.3180A>T (n.3180A>T) c.3569A>T (p.His1190Leu) c.*3521A>T (n.*3521A>T) c.3461A>T (p.His1154Leu) c.3515A>T (p.His1172Leu) c.1868A>T c.*2837A>T (n.*2837A>T) c.230+10137A>T c.3545A>T (p.His1182Leu) c.3440A>T (p.His1147Leu) c.3431A>T (p.His1144Leu) c.3392A>T (p.His1131Leu) c.3338A>T (p.His1113Leu) c.3242A>T (p.His1081Leu) c.3212A>T (p.His1071Leu) c.3137A>T (p.His1046Leu) c.3035A>T (p.His1012Leu) c.2666A>T (p.His889Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112839109dup | CA658760931 | APC | c.3180dup (n.3180dup) c.3569dup (p.His1190GlnfsTer7) c.*3521dup (n.*3521dup) c.3461dup (p.His1154GlnfsTer7) c.3515dup (p.His1172GlnfsTer7) c.1868dup c.*2837dup (n.*2837dup) c.230+10137dup c.3545dup (p.His1182GlnfsTer7) c.3440dup (p.His1147GlnfsTer7) c.3431dup (p.His1144GlnfsTer7) c.3392dup (p.His1131GlnfsTer7) c.3338dup (p.His1113GlnfsTer7) c.3242dup (p.His1081GlnfsTer7) c.3212dup (p.His1071GlnfsTer7) c.3137dup (p.His1046GlnfsTer7) c.3035dup (p.His1012GlnfsTer7) c.2666dup (p.His889GlnfsTer7) | |
| 5 | g.112839109_112839110del | CA658760930 | APC | c.3180_3181del (n.3180_3181del) c.3569_3570del (p.His1190ArgfsTer6) c.*3521_*3522del (n.*3521_*3522del) c.3461_3462del (p.His1154ArgfsTer6) c.3515_3516del (p.His1172ArgfsTer6) c.1868_1869del c.*2837_*2838del (n.*2837_*2838del) c.230+10137_230+10138del c.3545_3546del (p.His1182ArgfsTer6) c.3440_3441del (p.His1147ArgfsTer6) c.3431_3432del (p.His1144ArgfsTer6) c.3392_3393del (p.His1131ArgfsTer6) c.3338_3339del (p.His1113ArgfsTer6) c.3242_3243del (p.His1081ArgfsTer6) c.3212_3213del (p.His1071ArgfsTer6) c.3137_3138del (p.His1046ArgfsTer6) c.3035_3036del (p.His1012ArgfsTer6) c.2666_2667del (p.His889ArgfsTer6) | |
| 5 | g.112839110del | CA2695204944 | APC | c.3181del (n.3181del) c.3570del (p.His1190GlnfsTer10) c.*3522del (n.*3522del) c.3462del (p.His1154GlnfsTer10) c.3516del (p.His1172GlnfsTer10) c.1869del c.*2838del (n.*2838del) c.230+10138del c.3546del (p.His1182GlnfsTer10) c.3441del (p.His1147GlnfsTer10) c.3432del (p.His1144GlnfsTer10) c.3393del (p.His1131GlnfsTer10) c.3339del (p.His1113GlnfsTer10) c.3243del (p.His1081GlnfsTer10) c.3213del (p.His1071GlnfsTer10) c.3138del (p.His1046GlnfsTer10) c.3036del (p.His1012GlnfsTer10) c.2667del (p.His889GlnfsTer10) | |
| 5 | g.112839110T>A | CA16029055 | APC | c.3181T>A (n.3181T>A) c.3570T>A (p.His1190Gln) c.*3522T>A (n.*3522T>A) c.3462T>A (p.His1154Gln) c.3516T>A (p.His1172Gln) c.1869T>A c.*2838T>A (n.*2838T>A) c.230+10138T>A c.3546T>A (p.His1182Gln) c.3441T>A (p.His1147Gln) c.3432T>A (p.His1144Gln) c.3393T>A (p.His1131Gln) c.3339T>A (p.His1113Gln) c.3243T>A (p.His1081Gln) c.3213T>A (p.His1071Gln) c.3138T>A (p.His1046Gln) c.3036T>A (p.His1012Gln) c.2667T>A (p.His889Gln) | dbSNP |
| 5 | g.112839110T>C | CA445963544 | APC | c.3181T>C (n.3181T>C) c.3570T>C (p.His1190=) c.*3522T>C (n.*3522T>C) c.3462T>C (p.His1154=) c.3516T>C (p.His1172=) c.1869T>C c.*2838T>C (n.*2838T>C) c.230+10138T>C c.3546T>C (p.His1182=) c.3441T>C (p.His1147=) c.3432T>C (p.His1144=) c.3393T>C (p.His1131=) c.3339T>C (p.His1113=) c.3243T>C (p.His1081=) c.3213T>C (p.His1071=) c.3138T>C (p.His1046=) c.3036T>C (p.His1012=) c.2667T>C (p.His889=) | |
| 5 | g.112839110T>G | CA16029056 | APC | c.3181T>G (n.3181T>G) c.3570T>G (p.His1190Gln) c.*3522T>G (n.*3522T>G) c.3462T>G (p.His1154Gln) c.3516T>G (p.His1172Gln) c.1869T>G c.*2838T>G (n.*2838T>G) c.230+10138T>G c.3546T>G (p.His1182Gln) c.3441T>G (p.His1147Gln) c.3432T>G (p.His1144Gln) c.3393T>G (p.His1131Gln) c.3339T>G (p.His1113Gln) c.3243T>G (p.His1081Gln) c.3213T>G (p.His1071Gln) c.3138T>G (p.His1046Gln) c.3036T>G (p.His1012Gln) c.2667T>G (p.His889Gln) | |
| 5 | g.112839111G>A | CA16029057 | APC | c.3182G>A (n.3182G>A) c.3571G>A (p.Val1191Met) c.*3523G>A (n.*3523G>A) c.3463G>A (p.Val1155Met) c.3517G>A (p.Val1173Met) c.1870G>A c.*2839G>A (n.*2839G>A) c.230+10139G>A c.3547G>A (p.Val1183Met) c.3442G>A (p.Val1148Met) c.3433G>A (p.Val1145Met) c.3394G>A (p.Val1132Met) c.3340G>A (p.Val1114Met) c.3244G>A (p.Val1082Met) c.3214G>A (p.Val1072Met) c.3139G>A (p.Val1047Met) c.3037G>A (p.Val1013Met) c.2668G>A (p.Val890Met) | ClinVar dbSNP |
| 5 | g.112839111G>C | CA16029058 | APC | c.3182G>C (n.3182G>C) c.3571G>C (p.Val1191Leu) c.*3523G>C (n.*3523G>C) c.3463G>C (p.Val1155Leu) c.3517G>C (p.Val1173Leu) c.1870G>C c.*2839G>C (n.*2839G>C) c.230+10139G>C c.3547G>C (p.Val1183Leu) c.3442G>C (p.Val1148Leu) c.3433G>C (p.Val1145Leu) c.3394G>C (p.Val1132Leu) c.3340G>C (p.Val1114Leu) c.3244G>C (p.Val1082Leu) c.3214G>C (p.Val1072Leu) c.3139G>C (p.Val1047Leu) c.3037G>C (p.Val1013Leu) c.2668G>C (p.Val890Leu) | dbSNP |
| 5 | g.112839111G= | CA1573488782 | APC | c.3182G= (n.3182G=) c.3571G= (p.Val1191=) c.*3523G= (n.*3523G=) c.3463G= (p.Val1155=) c.3517G= (p.Val1173=) c.1870G= c.*2839G= (n.*2839G=) c.230+10139G= c.3547G= (p.Val1183=) c.3442G= (p.Val1148=) c.3433G= (p.Val1145=) c.3394G= (p.Val1132=) c.3340G= (p.Val1114=) c.3244G= (p.Val1082=) c.3214G= (p.Val1072=) c.3139G= (p.Val1047=) c.3037G= (p.Val1013=) c.2668G= (p.Val890=) |