| 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.112839985_112840294delinsCACCTACTGCTGAAA | CA658760717 | APC | c.4445_4754delinsCACCTACTGCTGAAA (p.Glu1482AlafsTer14) c.*4397_*4706delinsCACCTACTGCTGAAA (n.*4397_*4706delinsCACCTACTGCTGAAA) c.4337_4646delinsCACCTACTGCTGAAA (p.Glu1446AlafsTer14) c.4391_4700delinsCACCTACTGCTGAAA (p.Glu1464AlafsTer14) c.*3713_*4022delinsCACCTACTGCTGAAA (n.*3713_*4022delinsCACCTACTGCTGAAA) c.230+11013_230+11322delinsCACCTACTGCTGAAA c.4421_4730delinsCACCTACTGCTGAAA (p.Glu1474AlafsTer14) c.4316_4625delinsCACCTACTGCTGAAA (p.Glu1439AlafsTer14) c.4307_4616delinsCACCTACTGCTGAAA (p.Glu1436AlafsTer14) c.4268_4577delinsCACCTACTGCTGAAA (p.Glu1423AlafsTer14) c.4214_4523delinsCACCTACTGCTGAAA (p.Glu1405AlafsTer14) c.4118_4427delinsCACCTACTGCTGAAA (p.Glu1373AlafsTer14) c.4088_4397delinsCACCTACTGCTGAAA (p.Glu1363AlafsTer14) c.4013_4322delinsCACCTACTGCTGAAA (p.Glu1338AlafsTer14) c.3911_4220delinsCACCTACTGCTGAAA (p.Glu1304AlafsTer14) c.3542_3851delinsCACCTACTGCTGAAA (p.Glu1181AlafsTer14) | |
| 5 | g.112840073_112840862del | CA2499217486 | APC | c.4533_5322del (p.Glu1512LeufsTer9) c.*4485_*5274del (n.*4485_*5274del) c.4425_5214del (p.Glu1476LeufsTer9) c.4479_5268del (p.Glu1494LeufsTer9) c.*3801_*4590del (n.*3801_*4590del) c.230+11101_230+11890del c.4509_5298del (p.Glu1504LeufsTer9) c.4404_5193del (p.Glu1469LeufsTer9) c.4395_5184del (p.Glu1466LeufsTer9) c.4356_5145del (p.Glu1453LeufsTer9) c.4302_5091del (p.Glu1435LeufsTer9) c.4206_4995del (p.Glu1403LeufsTer9) c.4176_4965del (p.Glu1393LeufsTer9) c.4101_4890del (p.Glu1368LeufsTer9) c.3999_4788del (p.Glu1334LeufsTer9) c.3630_4419del (p.Glu1211LeufsTer9) | ClinVar dbSNP |
| 5 | g.112840128_112843000del | CA2582341313 | APC | c.4588_7460del (p.Asp1530Ter) c.*4540_*7412del (n.*4540_*7412del) c.4480_7352del (p.Asp1494Ter) c.4534_7406del (p.Asp1512Ter) c.230+11156_231-13649del c.4564_7436del (p.Asp1522Ter) c.4459_7331del (p.Asp1487Ter) c.4450_7322del (p.Asp1484Ter) c.4411_7283del (p.Asp1471Ter) c.4357_7229del (p.Asp1453Ter) c.4261_7133del (p.Asp1421Ter) c.4231_7103del (p.Asp1411Ter) c.4156_7028del (p.Asp1386Ter) c.4054_6926del (p.Asp1352Ter) c.3685_6557del (p.Asp1229Ter) | |
| 5 | g.112840151_112840163del | CA645543948 | APC | c.4611_4623del (p.Asp1537GlufsTer2) c.*4563_*4575del (n.*4563_*4575del) c.4503_4515del (p.Asp1501GlufsTer2) c.4557_4569del (p.Asp1519GlufsTer2) c.*3879_*3891del (n.*3879_*3891del) c.230+11179_230+11191del c.4587_4599del (p.Asp1529GlufsTer2) c.4482_4494del (p.Asp1494GlufsTer2) c.4473_4485del (p.Asp1491GlufsTer2) c.4434_4446del (p.Asp1478GlufsTer2) c.4380_4392del (p.Asp1460GlufsTer2) c.4284_4296del (p.Asp1428GlufsTer2) c.4254_4266del (p.Asp1418GlufsTer2) c.4179_4191del (p.Asp1393GlufsTer2) c.4077_4089del (p.Asp1359GlufsTer2) c.3708_3720del (p.Asp1236GlufsTer2) | COSMIC |
| 5 | g.112840159_112840165del | CA2580618017 | APC | c.4619_4625del (p.Leu1540Ter) c.*4571_*4577del (n.*4571_*4577del) c.4511_4517del (p.Leu1504Ter) c.4565_4571del (p.Leu1522Ter) c.*3887_*3893del (n.*3887_*3893del) c.230+11187_230+11193del c.4595_4601del (p.Leu1532Ter) c.4490_4496del (p.Leu1497Ter) c.4481_4487del (p.Leu1494Ter) c.4442_4448del (p.Leu1481Ter) c.4388_4394del (p.Leu1463Ter) c.4292_4298del (p.Leu1431Ter) c.4262_4268del (p.Leu1421Ter) c.4187_4193del (p.Leu1396Ter) c.4085_4091del (p.Leu1362Ter) c.3716_3722del (p.Leu1239Ter) | |
| 5 | g.112840158_112840175dup | CA562217613 | APC | c.4618_4635dup (p.Pro1545_Val1546insLeuArgIleMetProPro) c.*4570_*4587dup (n.*4570_*4587dup) c.4510_4527dup (p.Pro1509_Val1510insLeuArgIleMetProPro) c.4564_4581dup (p.Pro1527_Val1528insLeuArgIleMetProPro) c.*3886_*3903dup (n.*3886_*3903dup) c.230+11186_230+11203dup c.4594_4611dup (p.Pro1537_Val1538insLeuArgIleMetProPro) c.4489_4506dup (p.Pro1502_Val1503insLeuArgIleMetProPro) c.4480_4497dup (p.Pro1499_Val1500insLeuArgIleMetProPro) c.4441_4458dup (p.Pro1486_Val1487insLeuArgIleMetProPro) c.4387_4404dup (p.Pro1468_Val1469insLeuArgIleMetProPro) c.4291_4308dup (p.Pro1436_Val1437insLeuArgIleMetProPro) c.4261_4278dup (p.Pro1426_Val1427insLeuArgIleMetProPro) c.4186_4203dup (p.Pro1401_Val1402insLeuArgIleMetProPro) c.4084_4101dup (p.Pro1367_Val1368insLeuArgIleMetProPro) c.3715_3732dup (p.Pro1244_Val1245insLeuArgIleMetProPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112840159_112840168delinsAATGCCTCCAGTTCA | CA2580618018 | APC | c.4619_4628delinsAATGCCTCCAGTTCA (p.Leu1540Ter) c.*4571_*4580delinsAATGCCTCCAGTTCA (n.*4571_*4580delinsAATGCCTCCAGTTCA) c.4511_4520delinsAATGCCTCCAGTTCA (p.Leu1504Ter) c.4565_4574delinsAATGCCTCCAGTTCA (p.Leu1522Ter) c.*3887_*3896delinsAATGCCTCCAGTTCA (n.*3887_*3896delinsAATGCCTCCAGTTCA) c.230+11187_230+11196delinsAATGCCTCCAGTTCA c.4595_4604delinsAATGCCTCCAGTTCA (p.Leu1532Ter) c.4490_4499delinsAATGCCTCCAGTTCA (p.Leu1497Ter) c.4481_4490delinsAATGCCTCCAGTTCA (p.Leu1494Ter) c.4442_4451delinsAATGCCTCCAGTTCA (p.Leu1481Ter) c.4388_4397delinsAATGCCTCCAGTTCA (p.Leu1463Ter) c.4292_4301delinsAATGCCTCCAGTTCA (p.Leu1431Ter) c.4262_4271delinsAATGCCTCCAGTTCA (p.Leu1421Ter) c.4187_4196delinsAATGCCTCCAGTTCA (p.Leu1396Ter) c.4085_4094delinsAATGCCTCCAGTTCA (p.Leu1362Ter) c.3716_3725delinsAATGCCTCCAGTTCA (p.Leu1239Ter) | |
| 5 | g.112840162_112840164del | CA2739273278 | APC | c.4622_4624del (p.Arg1541del) c.*4574_*4576del (n.*4574_*4576del) c.4514_4516del (p.Arg1505del) c.4568_4570del (p.Arg1523del) c.*3890_*3892del (n.*3890_*3892del) c.230+11190_230+11192del c.4598_4600del (p.Arg1533del) c.4493_4495del (p.Arg1498del) c.4484_4486del (p.Arg1495del) c.4445_4447del (p.Arg1482del) c.4391_4393del (p.Arg1464del) c.4295_4297del (p.Arg1432del) c.4265_4267del (p.Arg1422del) c.4190_4192del (p.Arg1397del) c.4088_4090del (p.Arg1363del) c.3719_3721del (p.Arg1240del) | |
| 5 | g.112840161_112840167del | CA2695205290 | APC | c.4621_4627del (p.Arg1541CysfsTer?) c.*4573_*4579del (n.*4573_*4579del) c.4513_4519del (p.Arg1505CysfsTer?) c.4567_4573del (p.Arg1523CysfsTer?) c.*3889_*3895del (n.*3889_*3895del) c.230+11189_230+11195del c.4597_4603del (p.Arg1533CysfsTer?) c.4492_4498del (p.Arg1498CysfsTer?) c.4483_4489del (p.Arg1495CysfsTer?) c.4444_4450del (p.Arg1482CysfsTer?) c.4390_4396del (p.Arg1464CysfsTer?) c.4294_4300del (p.Arg1432CysfsTer?) c.4264_4270del (p.Arg1422CysfsTer?) c.4189_4195del (p.Arg1397CysfsTer?) c.4087_4093del (p.Arg1363CysfsTer?) c.3718_3724del (p.Arg1240CysfsTer?) | |
| 5 | g.112840162_112840166del | CA2582341319 | APC | c.4622_4626del (p.Arg1541AsnfsTer8) c.*4574_*4578del (n.*4574_*4578del) c.4514_4518del (p.Arg1505AsnfsTer8) c.4568_4572del (p.Arg1523AsnfsTer8) c.*3890_*3894del (n.*3890_*3894del) c.230+11190_230+11194del c.4598_4602del (p.Arg1533AsnfsTer8) c.4493_4497del (p.Arg1498AsnfsTer8) c.4484_4488del (p.Arg1495AsnfsTer8) c.4445_4449del (p.Arg1482AsnfsTer8) c.4391_4395del (p.Arg1464AsnfsTer8) c.4295_4299del (p.Arg1432AsnfsTer8) c.4265_4269del (p.Arg1422AsnfsTer8) c.4190_4194del (p.Arg1397AsnfsTer8) c.4088_4092del (p.Arg1363AsnfsTer8) c.3719_3723del (p.Arg1240AsnfsTer8) | |
| 5 | g.112840163A>C | CA16031335 | APC | c.4623A>C (p.Arg1541Ser) c.*4575A>C (n.*4575A>C) c.4515A>C (p.Arg1505Ser) c.4569A>C (p.Arg1523Ser) c.*3891A>C (n.*3891A>C) c.230+11191A>C c.4599A>C (p.Arg1533Ser) c.4494A>C (p.Arg1498Ser) c.4485A>C (p.Arg1495Ser) c.4446A>C (p.Arg1482Ser) c.4392A>C (p.Arg1464Ser) c.4296A>C (p.Arg1432Ser) c.4266A>C (p.Arg1422Ser) c.4191A>C (p.Arg1397Ser) c.4089A>C (p.Arg1363Ser) c.3720A>C (p.Arg1240Ser) | |
| 5 | g.112840163A>G | CA446206592 | APC | c.4623A>G (p.Arg1541=) c.*4575A>G (n.*4575A>G) c.4515A>G (p.Arg1505=) c.4569A>G (p.Arg1523=) c.*3891A>G (n.*3891A>G) c.230+11191A>G c.4599A>G (p.Arg1533=) c.4494A>G (p.Arg1498=) c.4485A>G (p.Arg1495=) c.4446A>G (p.Arg1482=) c.4392A>G (p.Arg1464=) c.4296A>G (p.Arg1432=) c.4266A>G (p.Arg1422=) c.4191A>G (p.Arg1397=) c.4089A>G (p.Arg1363=) c.3720A>G (p.Arg1240=) | COSMIC |
| 5 | g.112840163A>T | CA16031336 | APC | c.4623A>T (p.Arg1541Ser) c.*4575A>T (n.*4575A>T) c.4515A>T (p.Arg1505Ser) c.4569A>T (p.Arg1523Ser) c.*3891A>T (n.*3891A>T) c.230+11191A>T c.4599A>T (p.Arg1533Ser) c.4494A>T (p.Arg1498Ser) c.4485A>T (p.Arg1495Ser) c.4446A>T (p.Arg1482Ser) c.4392A>T (p.Arg1464Ser) c.4296A>T (p.Arg1432Ser) c.4266A>T (p.Arg1422Ser) c.4191A>T (p.Arg1397Ser) c.4089A>T (p.Arg1363Ser) c.3720A>T (p.Arg1240Ser) | dbSNP |
| 5 | g.112840164del | CA2695205291 | APC | c.4624del (p.Ile1542Ter) c.*4576del (n.*4576del) c.4516del (p.Ile1506Ter) c.4570del (p.Ile1524Ter) c.*3892del (n.*3892del) c.230+11192del c.4600del (p.Ile1534Ter) c.4495del (p.Ile1499Ter) c.4486del (p.Ile1496Ter) c.4447del (p.Ile1483Ter) c.4393del (p.Ile1465Ter) c.4297del (p.Ile1433Ter) c.4267del (p.Ile1423Ter) c.4192del (p.Ile1398Ter) c.4090del (p.Ile1364Ter) c.3721del (p.Ile1241Ter) | |
| 5 | g.112840163_112840164insG | CA446206593 | APC | c.4623_4624insG (p.Ile1542AspfsTer9) c.*4575_*4576insG (n.*4575_*4576insG) c.4515_4516insG (p.Ile1506AspfsTer9) c.4569_4570insG (p.Ile1524AspfsTer9) c.*3891_*3892insG (n.*3891_*3892insG) c.230+11191_230+11192insG c.4599_4600insG (p.Ile1534AspfsTer9) c.4494_4495insG (p.Ile1499AspfsTer9) c.4485_4486insG (p.Ile1496AspfsTer9) c.4446_4447insG (p.Ile1483AspfsTer9) c.4392_4393insG (p.Ile1465AspfsTer9) c.4296_4297insG (p.Ile1433AspfsTer9) c.4266_4267insG (p.Ile1423AspfsTer9) c.4191_4192insG (p.Ile1398AspfsTer9) c.4089_4090insG (p.Ile1364AspfsTer9) c.3720_3721insG (p.Ile1241AspfsTer9) | |
| 5 | g.112840164A= | CA1573469776 | APC | c.4624A= (p.Ile1542=) c.*4576A= (n.*4576A=) c.4516A= (p.Ile1506=) c.4570A= (p.Ile1524=) c.*3892A= (n.*3892A=) c.230+11192A= c.4600A= (p.Ile1534=) c.4495A= (p.Ile1499=) c.4486A= (p.Ile1496=) c.4447A= (p.Ile1483=) c.4393A= (p.Ile1465=) c.4297A= (p.Ile1433=) c.4267A= (p.Ile1423=) c.4192A= (p.Ile1398=) c.4090A= (p.Ile1364=) c.3721A= (p.Ile1241=) | |
| 5 | g.112840164A>C | CA16031337 | APC | c.4624A>C (p.Ile1542Leu) c.*4576A>C (n.*4576A>C) c.4516A>C (p.Ile1506Leu) c.4570A>C (p.Ile1524Leu) c.*3892A>C (n.*3892A>C) c.230+11192A>C c.4600A>C (p.Ile1534Leu) c.4495A>C (p.Ile1499Leu) c.4486A>C (p.Ile1496Leu) c.4447A>C (p.Ile1483Leu) c.4393A>C (p.Ile1465Leu) c.4297A>C (p.Ile1433Leu) c.4267A>C (p.Ile1423Leu) c.4192A>C (p.Ile1398Leu) c.4090A>C (p.Ile1364Leu) c.3721A>C (p.Ile1241Leu) | dbSNP |
| 5 | g.112840164A>G | CA16031338 | APC | c.4624A>G (p.Ile1542Val) c.*4576A>G (n.*4576A>G) c.4516A>G (p.Ile1506Val) c.4570A>G (p.Ile1524Val) c.*3892A>G (n.*3892A>G) c.230+11192A>G c.4600A>G (p.Ile1534Val) c.4495A>G (p.Ile1499Val) c.4486A>G (p.Ile1496Val) c.4447A>G (p.Ile1483Val) c.4393A>G (p.Ile1465Val) c.4297A>G (p.Ile1433Val) c.4267A>G (p.Ile1423Val) c.4192A>G (p.Ile1398Val) c.4090A>G (p.Ile1364Val) c.3721A>G (p.Ile1241Val) | ClinVar dbSNP |
| 5 | g.112840164A>T | CA16031339 | APC | c.4624A>T (p.Ile1542Leu) c.*4576A>T (n.*4576A>T) c.4516A>T (p.Ile1506Leu) c.4570A>T (p.Ile1524Leu) c.*3892A>T (n.*3892A>T) c.230+11192A>T c.4600A>T (p.Ile1534Leu) c.4495A>T (p.Ile1499Leu) c.4486A>T (p.Ile1496Leu) c.4447A>T (p.Ile1483Leu) c.4393A>T (p.Ile1465Leu) c.4297A>T (p.Ile1433Leu) c.4267A>T (p.Ile1423Leu) c.4192A>T (p.Ile1398Leu) c.4090A>T (p.Ile1364Leu) c.3721A>T (p.Ile1241Leu) | dbSNP |
| 5 | g.112840164_112840170del | CA658760746 | APC | c.4624_4630del (p.Ile1542LeufsTer?) c.*4576_*4582del (n.*4576_*4582del) c.4516_4522del (p.Ile1506LeufsTer?) c.4570_4576del (p.Ile1524LeufsTer?) c.*3892_*3898del (n.*3892_*3898del) c.230+11192_230+11198del c.4600_4606del (p.Ile1534LeufsTer?) c.4495_4501del (p.Ile1499LeufsTer?) c.4486_4492del (p.Ile1496LeufsTer?) c.4447_4453del (p.Ile1483LeufsTer?) c.4393_4399del (p.Ile1465LeufsTer?) c.4297_4303del (p.Ile1433LeufsTer?) c.4267_4273del (p.Ile1423LeufsTer?) c.4192_4198del (p.Ile1398LeufsTer?) c.4090_4096del (p.Ile1364LeufsTer?) c.3721_3727del (p.Ile1241LeufsTer?) | |
| 5 | g.112840165T>A | CA16031340 | APC | c.4625T>A (p.Ile1542Lys) c.*4577T>A (n.*4577T>A) c.4517T>A (p.Ile1506Lys) c.4571T>A (p.Ile1524Lys) c.*3893T>A (n.*3893T>A) c.230+11193T>A c.4601T>A (p.Ile1534Lys) c.4496T>A (p.Ile1499Lys) c.4487T>A (p.Ile1496Lys) c.4448T>A (p.Ile1483Lys) c.4394T>A (p.Ile1465Lys) c.4298T>A (p.Ile1433Lys) c.4268T>A (p.Ile1423Lys) c.4193T>A (p.Ile1398Lys) c.4091T>A (p.Ile1364Lys) c.3722T>A (p.Ile1241Lys) | |
| 5 | g.112840165T>C | CA16031341 | APC | c.4625T>C (p.Ile1542Thr) c.*4577T>C (n.*4577T>C) c.4517T>C (p.Ile1506Thr) c.4571T>C (p.Ile1524Thr) c.*3893T>C (n.*3893T>C) c.230+11193T>C c.4601T>C (p.Ile1534Thr) c.4496T>C (p.Ile1499Thr) c.4487T>C (p.Ile1496Thr) c.4448T>C (p.Ile1483Thr) c.4394T>C (p.Ile1465Thr) c.4298T>C (p.Ile1433Thr) c.4268T>C (p.Ile1423Thr) c.4193T>C (p.Ile1398Thr) c.4091T>C (p.Ile1364Thr) c.3722T>C (p.Ile1241Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840165T>G | CA339419 | APC | c.4625T>G (p.Ile1542Arg) c.*4577T>G (n.*4577T>G) c.4517T>G (p.Ile1506Arg) c.4571T>G (p.Ile1524Arg) c.*3893T>G (n.*3893T>G) c.230+11193T>G c.4601T>G (p.Ile1534Arg) c.4496T>G (p.Ile1499Arg) c.4487T>G (p.Ile1496Arg) c.4448T>G (p.Ile1483Arg) c.4394T>G (p.Ile1465Arg) c.4298T>G (p.Ile1433Arg) c.4268T>G (p.Ile1423Arg) c.4193T>G (p.Ile1398Arg) c.4091T>G (p.Ile1364Arg) c.3722T>G (p.Ile1241Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840165T= | CA1573469794 | APC | c.4625T= (p.Ile1542=) c.*4577T= (n.*4577T=) c.4517T= (p.Ile1506=) c.4571T= (p.Ile1524=) c.*3893T= (n.*3893T=) c.230+11193T= c.4601T= (p.Ile1534=) c.4496T= (p.Ile1499=) c.4487T= (p.Ile1496=) c.4448T= (p.Ile1483=) c.4394T= (p.Ile1465=) c.4298T= (p.Ile1433=) c.4268T= (p.Ile1423=) c.4193T= (p.Ile1398=) c.4091T= (p.Ile1364=) c.3722T= (p.Ile1241=) | |
| 5 | g.112840166A>C | CA446206594 | APC | c.4626A>C (p.Ile1542=) c.*4578A>C (n.*4578A>C) c.4518A>C (p.Ile1506=) c.4572A>C (p.Ile1524=) c.*3894A>C (n.*3894A>C) c.230+11194A>C c.4602A>C (p.Ile1534=) c.4497A>C (p.Ile1499=) c.4488A>C (p.Ile1496=) c.4449A>C (p.Ile1483=) c.4395A>C (p.Ile1465=) c.4299A>C (p.Ile1433=) c.4269A>C (p.Ile1423=) c.4194A>C (p.Ile1398=) c.4092A>C (p.Ile1364=) c.3723A>C (p.Ile1241=) | dbSNP |
| 5 | g.112840166A>G | CA16031342 | APC | c.4626A>G (p.Ile1542Met) c.*4578A>G (n.*4578A>G) c.4518A>G (p.Ile1506Met) c.4572A>G (p.Ile1524Met) c.*3894A>G (n.*3894A>G) c.230+11194A>G c.4602A>G (p.Ile1534Met) c.4497A>G (p.Ile1499Met) c.4488A>G (p.Ile1496Met) c.4449A>G (p.Ile1483Met) c.4395A>G (p.Ile1465Met) c.4299A>G (p.Ile1433Met) c.4269A>G (p.Ile1423Met) c.4194A>G (p.Ile1398Met) c.4092A>G (p.Ile1364Met) c.3723A>G (p.Ile1241Met) | ClinVar dbSNP |
| 5 | g.112840166A>T | CA446206595 | APC | c.4626A>T (p.Ile1542=) c.*4578A>T (n.*4578A>T) c.4518A>T (p.Ile1506=) c.4572A>T (p.Ile1524=) c.*3894A>T (n.*3894A>T) c.230+11194A>T c.4602A>T (p.Ile1534=) c.4497A>T (p.Ile1499=) c.4488A>T (p.Ile1496=) c.4449A>T (p.Ile1483=) c.4395A>T (p.Ile1465=) c.4299A>T (p.Ile1433=) c.4269A>T (p.Ile1423=) c.4194A>T (p.Ile1398=) c.4092A>T (p.Ile1364=) c.3723A>T (p.Ile1241=) | dbSNP |
| 5 | g.112840167A>C | CA16031343 | APC | c.4627A>C (p.Met1543Leu) c.*4579A>C (n.*4579A>C) c.4519A>C (p.Met1507Leu) c.4573A>C (p.Met1525Leu) c.*3895A>C (n.*3895A>C) c.230+11195A>C c.4603A>C (p.Met1535Leu) c.4498A>C (p.Met1500Leu) c.4489A>C (p.Met1497Leu) c.4450A>C (p.Met1484Leu) c.4396A>C (p.Met1466Leu) c.4300A>C (p.Met1434Leu) c.4270A>C (p.Met1424Leu) c.4195A>C (p.Met1399Leu) c.4093A>C (p.Met1365Leu) c.3724A>C (p.Met1242Leu) | dbSNP |
| 5 | g.112840167A>G | CA16031344 | APC | c.4627A>G (p.Met1543Val) c.*4579A>G (n.*4579A>G) c.4519A>G (p.Met1507Val) c.4573A>G (p.Met1525Val) c.*3895A>G (n.*3895A>G) c.230+11195A>G c.4603A>G (p.Met1535Val) c.4498A>G (p.Met1500Val) c.4489A>G (p.Met1497Val) c.4450A>G (p.Met1484Val) c.4396A>G (p.Met1466Val) c.4300A>G (p.Met1434Val) c.4270A>G (p.Met1424Val) c.4195A>G (p.Met1399Val) c.4093A>G (p.Met1365Val) c.3724A>G (p.Met1242Val) | dbSNP |
| 5 | g.112840167A>T | CA16031345 | APC | c.4627A>T (p.Met1543Leu) c.*4579A>T (n.*4579A>T) c.4519A>T (p.Met1507Leu) c.4573A>T (p.Met1525Leu) c.*3895A>T (n.*3895A>T) c.230+11195A>T c.4603A>T (p.Met1535Leu) c.4498A>T (p.Met1500Leu) c.4489A>T (p.Met1497Leu) c.4450A>T (p.Met1484Leu) c.4396A>T (p.Met1466Leu) c.4300A>T (p.Met1434Leu) c.4270A>T (p.Met1424Leu) c.4195A>T (p.Met1399Leu) c.4093A>T (p.Met1365Leu) c.3724A>T (p.Met1242Leu) | dbSNP |
| 5 | g.112840168T>A | CA16031346 | APC | c.4628T>A (p.Met1543Lys) c.*4580T>A (n.*4580T>A) c.4520T>A (p.Met1507Lys) c.4574T>A (p.Met1525Lys) c.*3896T>A (n.*3896T>A) c.230+11196T>A c.4604T>A (p.Met1535Lys) c.4499T>A (p.Met1500Lys) c.4490T>A (p.Met1497Lys) c.4451T>A (p.Met1484Lys) c.4397T>A (p.Met1466Lys) c.4301T>A (p.Met1434Lys) c.4271T>A (p.Met1424Lys) c.4196T>A (p.Met1399Lys) c.4094T>A (p.Met1365Lys) c.3725T>A (p.Met1242Lys) | dbSNP |
| 5 | g.112840168T>C | CA16031347 | APC | c.4628T>C (p.Met1543Thr) c.*4580T>C (n.*4580T>C) c.4520T>C (p.Met1507Thr) c.4574T>C (p.Met1525Thr) c.*3896T>C (n.*3896T>C) c.230+11196T>C c.4604T>C (p.Met1535Thr) c.4499T>C (p.Met1500Thr) c.4490T>C (p.Met1497Thr) c.4451T>C (p.Met1484Thr) c.4397T>C (p.Met1466Thr) c.4301T>C (p.Met1434Thr) c.4271T>C (p.Met1424Thr) c.4196T>C (p.Met1399Thr) c.4094T>C (p.Met1365Thr) c.3725T>C (p.Met1242Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840168T>G | CA16031348 | APC | c.4628T>G (p.Met1543Arg) c.*4580T>G (n.*4580T>G) c.4520T>G (p.Met1507Arg) c.4574T>G (p.Met1525Arg) c.*3896T>G (n.*3896T>G) c.230+11196T>G c.4604T>G (p.Met1535Arg) c.4499T>G (p.Met1500Arg) c.4490T>G (p.Met1497Arg) c.4451T>G (p.Met1484Arg) c.4397T>G (p.Met1466Arg) c.4301T>G (p.Met1434Arg) c.4271T>G (p.Met1424Arg) c.4196T>G (p.Met1399Arg) c.4094T>G (p.Met1365Arg) c.3725T>G (p.Met1242Arg) | ClinVar dbSNP |
| 5 | g.112840168T= | CA1573469801 | APC | c.4628T= (p.Met1543=) c.*4580T= (n.*4580T=) c.4520T= (p.Met1507=) c.4574T= (p.Met1525=) c.*3896T= (n.*3896T=) c.230+11196T= c.4604T= (p.Met1535=) c.4499T= (p.Met1500=) c.4490T= (p.Met1497=) c.4451T= (p.Met1484=) c.4397T= (p.Met1466=) c.4301T= (p.Met1434=) c.4271T= (p.Met1424=) c.4196T= (p.Met1399=) c.4094T= (p.Met1365=) c.3725T= (p.Met1242=) | |
| 5 | g.112840168_112840169insA | CA645543952 | APC | c.4628_4629insA (p.Met1543IlefsTer8) c.*4580_*4581insA (n.*4580_*4581insA) c.4520_4521insA (p.Met1507IlefsTer8) c.4574_4575insA (p.Met1525IlefsTer8) c.*3896_*3897insA (n.*3896_*3897insA) c.230+11196_230+11197insA c.4604_4605insA (p.Met1535IlefsTer8) c.4499_4500insA (p.Met1500IlefsTer8) c.4490_4491insA (p.Met1497IlefsTer8) c.4451_4452insA (p.Met1484IlefsTer8) c.4397_4398insA (p.Met1466IlefsTer8) c.4301_4302insA (p.Met1434IlefsTer8) c.4271_4272insA (p.Met1424IlefsTer8) c.4196_4197insA (p.Met1399IlefsTer8) c.4094_4095insA (p.Met1365IlefsTer8) c.3725_3726insA (p.Met1242IlefsTer8) | COSMIC |
| 5 | g.112840169del | CA645543951 | APC | c.4629del (p.Met1543IlefsTer?) c.*4581del (n.*4581del) c.4521del (p.Met1507IlefsTer?) c.4575del (p.Met1525IlefsTer?) c.*3897del (n.*3897del) c.230+11197del c.4605del (p.Met1535IlefsTer?) c.4500del (p.Met1500IlefsTer?) c.4491del (p.Met1497IlefsTer?) c.4452del (p.Met1484IlefsTer?) c.4398del (p.Met1466IlefsTer?) c.4302del (p.Met1434IlefsTer?) c.4272del (p.Met1424IlefsTer?) c.4197del (p.Met1399IlefsTer?) c.4095del (p.Met1365IlefsTer?) c.3726del (p.Met1242IlefsTer?) | COSMIC |
| 5 | g.112840169G>A | CA16031349 | APC | c.4629G>A (p.Met1543Ile) c.*4581G>A (n.*4581G>A) c.4521G>A (p.Met1507Ile) c.4575G>A (p.Met1525Ile) c.*3897G>A (n.*3897G>A) c.230+11197G>A c.4605G>A (p.Met1535Ile) c.4500G>A (p.Met1500Ile) c.4491G>A (p.Met1497Ile) c.4452G>A (p.Met1484Ile) c.4398G>A (p.Met1466Ile) c.4302G>A (p.Met1434Ile) c.4272G>A (p.Met1424Ile) c.4197G>A (p.Met1399Ile) c.4095G>A (p.Met1365Ile) c.3726G>A (p.Met1242Ile) | dbSNP |
| 5 | g.112840169G>C | CA16031350 | APC | c.4629G>C (p.Met1543Ile) c.*4581G>C (n.*4581G>C) c.4521G>C (p.Met1507Ile) c.4575G>C (p.Met1525Ile) c.*3897G>C (n.*3897G>C) c.230+11197G>C c.4605G>C (p.Met1535Ile) c.4500G>C (p.Met1500Ile) c.4491G>C (p.Met1497Ile) c.4452G>C (p.Met1484Ile) c.4398G>C (p.Met1466Ile) c.4302G>C (p.Met1434Ile) c.4272G>C (p.Met1424Ile) c.4197G>C (p.Met1399Ile) c.4095G>C (p.Met1365Ile) c.3726G>C (p.Met1242Ile) | dbSNP |
| 5 | g.112840169G>T | CA16031351 | APC | c.4629G>T (p.Met1543Ile) c.*4581G>T (n.*4581G>T) c.4521G>T (p.Met1507Ile) c.4575G>T (p.Met1525Ile) c.*3897G>T (n.*3897G>T) c.230+11197G>T c.4605G>T (p.Met1535Ile) c.4500G>T (p.Met1500Ile) c.4491G>T (p.Met1497Ile) c.4452G>T (p.Met1484Ile) c.4398G>T (p.Met1466Ile) c.4302G>T (p.Met1434Ile) c.4272G>T (p.Met1424Ile) c.4197G>T (p.Met1399Ile) c.4095G>T (p.Met1365Ile) c.3726G>T (p.Met1242Ile) | dbSNP |
| 5 | g.112840169_112840172delinsGCCT | CA1573469826 | APC | c.4629_4632delinsGCCT (p.Met1543=) c.*4581_*4584delinsGCCT (n.*4581_*4584delinsGCCT) c.4521_4524delinsGCCT (p.Met1507=) c.4575_4578delinsGCCT (p.Met1525=) c.*3897_*3900delinsGCCT (n.*3897_*3900delinsGCCT) c.230+11197_230+11200delinsGCCT c.4605_4608delinsGCCT (p.Met1535=) c.4500_4503delinsGCCT (p.Met1500=) c.4491_4494delinsGCCT (p.Met1497=) c.4452_4455delinsGCCT (p.Met1484=) c.4398_4401delinsGCCT (p.Met1466=) c.4302_4305delinsGCCT (p.Met1434=) c.4272_4275delinsGCCT (p.Met1424=) c.4197_4200delinsGCCT (p.Met1399=) c.4095_4098delinsGCCT (p.Met1365=) c.3726_3729delinsGCCT (p.Met1242=) | |
| 5 | g.112840169_112840170insA | CA446206596 | APC | c.4629_4630insA (p.Pro1544ThrfsTer7) c.*4581_*4582insA (n.*4581_*4582insA) c.4521_4522insA (p.Pro1508ThrfsTer7) c.4575_4576insA (p.Pro1526ThrfsTer7) c.*3897_*3898insA (n.*3897_*3898insA) c.230+11197_230+11198insA c.4605_4606insA (p.Pro1536ThrfsTer7) c.4500_4501insA (p.Pro1501ThrfsTer7) c.4491_4492insA (p.Pro1498ThrfsTer7) c.4452_4453insA (p.Pro1485ThrfsTer7) c.4398_4399insA (p.Pro1467ThrfsTer7) c.4302_4303insA (p.Pro1435ThrfsTer7) c.4272_4273insA (p.Pro1425ThrfsTer7) c.4197_4198insA (p.Pro1400ThrfsTer7) c.4095_4096insA (p.Pro1366ThrfsTer7) c.3726_3727insA (p.Pro1243ThrfsTer7) | |
| 5 | g.112840170C>A | CA16031352 | APC | c.4630C>A (p.Pro1544Thr) c.*4582C>A (n.*4582C>A) c.4522C>A (p.Pro1508Thr) c.4576C>A (p.Pro1526Thr) c.*3898C>A (n.*3898C>A) c.230+11198C>A c.4606C>A (p.Pro1536Thr) c.4501C>A (p.Pro1501Thr) c.4492C>A (p.Pro1498Thr) c.4453C>A (p.Pro1485Thr) c.4399C>A (p.Pro1467Thr) c.4303C>A (p.Pro1435Thr) c.4273C>A (p.Pro1425Thr) c.4198C>A (p.Pro1400Thr) c.4096C>A (p.Pro1366Thr) c.3727C>A (p.Pro1243Thr) | dbSNP |
| 5 | g.112840170C= | CA1573469852 | APC | c.4630C= (p.Pro1544=) c.*4582C= (n.*4582C=) c.4522C= (p.Pro1508=) c.4576C= (p.Pro1526=) c.*3898C= (n.*3898C=) c.230+11198C= c.4606C= (p.Pro1536=) c.4501C= (p.Pro1501=) c.4492C= (p.Pro1498=) c.4453C= (p.Pro1485=) c.4399C= (p.Pro1467=) c.4303C= (p.Pro1435=) c.4273C= (p.Pro1425=) c.4198C= (p.Pro1400=) c.4096C= (p.Pro1366=) c.3727C= (p.Pro1243=) | |
| 5 | g.112840170C>G | CA16031353 | APC | c.4630C>G (p.Pro1544Ala) c.*4582C>G (n.*4582C>G) c.4522C>G (p.Pro1508Ala) c.4576C>G (p.Pro1526Ala) c.*3898C>G (n.*3898C>G) c.230+11198C>G c.4606C>G (p.Pro1536Ala) c.4501C>G (p.Pro1501Ala) c.4492C>G (p.Pro1498Ala) c.4453C>G (p.Pro1485Ala) c.4399C>G (p.Pro1467Ala) c.4303C>G (p.Pro1435Ala) c.4273C>G (p.Pro1425Ala) c.4198C>G (p.Pro1400Ala) c.4096C>G (p.Pro1366Ala) c.3727C>G (p.Pro1243Ala) | dbSNP |
| 5 | g.112840170C>T | CA16031354 | APC | c.4630C>T (p.Pro1544Ser) c.*4582C>T (n.*4582C>T) c.4522C>T (p.Pro1508Ser) c.4576C>T (p.Pro1526Ser) c.*3898C>T (n.*3898C>T) c.230+11198C>T c.4606C>T (p.Pro1536Ser) c.4501C>T (p.Pro1501Ser) c.4492C>T (p.Pro1498Ser) c.4453C>T (p.Pro1485Ser) c.4399C>T (p.Pro1467Ser) c.4303C>T (p.Pro1435Ser) c.4273C>T (p.Pro1425Ser) c.4198C>T (p.Pro1400Ser) c.4096C>T (p.Pro1366Ser) c.3727C>T (p.Pro1243Ser) | ClinVar dbSNP COSMIC |
| 5 | g.112840172_112840174del | CA658655946 | APC | c.4632_4634del (p.Pro1545del) c.*4584_*4586del (n.*4584_*4586del) c.4524_4526del (p.Pro1509del) c.4578_4580del (p.Pro1527del) c.*3900_*3902del (n.*3900_*3902del) c.230+11200_230+11202del c.4608_4610del (p.Pro1537del) c.4503_4505del (p.Pro1502del) c.4494_4496del (p.Pro1499del) c.4455_4457del (p.Pro1486del) c.4401_4403del (p.Pro1468del) c.4305_4307del (p.Pro1436del) c.4275_4277del (p.Pro1426del) c.4200_4202del (p.Pro1401del) c.4098_4100del (p.Pro1367del) c.3729_3731del (p.Pro1244del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840171C>A | CA16031355 | APC | c.4631C>A (p.Pro1544His) c.*4583C>A (n.*4583C>A) c.4523C>A (p.Pro1508His) c.4577C>A (p.Pro1526His) c.*3899C>A (n.*3899C>A) c.230+11199C>A c.4607C>A (p.Pro1536His) c.4502C>A (p.Pro1501His) c.4493C>A (p.Pro1498His) c.4454C>A (p.Pro1485His) c.4400C>A (p.Pro1467His) c.4304C>A (p.Pro1435His) c.4274C>A (p.Pro1425His) c.4199C>A (p.Pro1400His) c.4097C>A (p.Pro1366His) c.3728C>A (p.Pro1243His) | dbSNP |
| 5 | g.112840171C= | CA1573469869 | APC | c.4631C= (p.Pro1544=) c.*4583C= (n.*4583C=) c.4523C= (p.Pro1508=) c.4577C= (p.Pro1526=) c.*3899C= (n.*3899C=) c.230+11199C= c.4607C= (p.Pro1536=) c.4502C= (p.Pro1501=) c.4493C= (p.Pro1498=) c.4454C= (p.Pro1485=) c.4400C= (p.Pro1467=) c.4304C= (p.Pro1435=) c.4274C= (p.Pro1425=) c.4199C= (p.Pro1400=) c.4097C= (p.Pro1366=) c.3728C= (p.Pro1243=) | |
| 5 | g.112840171C>G | CA16031356 | APC | c.4631C>G (p.Pro1544Arg) c.*4583C>G (n.*4583C>G) c.4523C>G (p.Pro1508Arg) c.4577C>G (p.Pro1526Arg) c.*3899C>G (n.*3899C>G) c.230+11199C>G c.4607C>G (p.Pro1536Arg) c.4502C>G (p.Pro1501Arg) c.4493C>G (p.Pro1498Arg) c.4454C>G (p.Pro1485Arg) c.4400C>G (p.Pro1467Arg) c.4304C>G (p.Pro1435Arg) c.4274C>G (p.Pro1425Arg) c.4199C>G (p.Pro1400Arg) c.4097C>G (p.Pro1366Arg) c.3728C>G (p.Pro1243Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |