| 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.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) | ClinVar |
| 5 | g.112840495del | CA16043407 | APC | c.4955del (p.Pro1652ArgfsTer16) c.*4907del (n.*4907del) c.4847del (p.Pro1616ArgfsTer16) c.4901del (p.Pro1634ArgfsTer16) c.*4223del (n.*4223del) c.230+11523del c.4931del (p.Pro1644ArgfsTer16) c.4826del (p.Pro1609ArgfsTer16) c.4817del (p.Pro1606ArgfsTer16) c.4778del (p.Pro1593ArgfsTer16) c.4724del (p.Pro1575ArgfsTer16) c.4628del (p.Pro1543ArgfsTer16) c.4598del (p.Pro1533ArgfsTer16) c.4523del (p.Pro1508ArgfsTer16) c.4421del (p.Pro1474ArgfsTer16) c.4052del (p.Pro1351ArgfsTer16) | ClinVar dbSNP |
| 5 | g.112840495C>A | CA16032071 | APC | c.4955C>A (p.Pro1652Gln) c.*4907C>A (n.*4907C>A) c.4847C>A (p.Pro1616Gln) c.4901C>A (p.Pro1634Gln) c.*4223C>A (n.*4223C>A) c.230+11523C>A c.4931C>A (p.Pro1644Gln) c.4826C>A (p.Pro1609Gln) c.4817C>A (p.Pro1606Gln) c.4778C>A (p.Pro1593Gln) c.4724C>A (p.Pro1575Gln) c.4628C>A (p.Pro1543Gln) c.4598C>A (p.Pro1533Gln) c.4523C>A (p.Pro1508Gln) c.4421C>A (p.Pro1474Gln) c.4052C>A (p.Pro1351Gln) | ClinVar dbSNP |
| 5 | g.112840495C= | CA1573472390 | APC | c.4955C= (p.Pro1652=) c.*4907C= (n.*4907C=) c.4847C= (p.Pro1616=) c.4901C= (p.Pro1634=) c.*4223C= (n.*4223C=) c.230+11523C= c.4931C= (p.Pro1644=) c.4826C= (p.Pro1609=) c.4817C= (p.Pro1606=) c.4778C= (p.Pro1593=) c.4724C= (p.Pro1575=) c.4628C= (p.Pro1543=) c.4598C= (p.Pro1533=) c.4523C= (p.Pro1508=) c.4421C= (p.Pro1474=) c.4052C= (p.Pro1351=) | |
| 5 | g.112840495C>G | CA040125 | APC | c.4955C>G (p.Pro1652Arg) c.*4907C>G (n.*4907C>G) c.4847C>G (p.Pro1616Arg) c.4901C>G (p.Pro1634Arg) c.*4223C>G (n.*4223C>G) c.230+11523C>G c.4931C>G (p.Pro1644Arg) c.4826C>G (p.Pro1609Arg) c.4817C>G (p.Pro1606Arg) c.4778C>G (p.Pro1593Arg) c.4724C>G (p.Pro1575Arg) c.4628C>G (p.Pro1543Arg) c.4598C>G (p.Pro1533Arg) c.4523C>G (p.Pro1508Arg) c.4421C>G (p.Pro1474Arg) c.4052C>G (p.Pro1351Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112840495C>T | CA040139 | APC | c.4955C>T (p.Pro1652Leu) c.*4907C>T (n.*4907C>T) c.4847C>T (p.Pro1616Leu) c.4901C>T (p.Pro1634Leu) c.*4223C>T (n.*4223C>T) c.230+11523C>T c.4931C>T (p.Pro1644Leu) c.4826C>T (p.Pro1609Leu) c.4817C>T (p.Pro1606Leu) c.4778C>T (p.Pro1593Leu) c.4724C>T (p.Pro1575Leu) c.4628C>T (p.Pro1543Leu) c.4598C>T (p.Pro1533Leu) c.4523C>T (p.Pro1508Leu) c.4421C>T (p.Pro1474Leu) c.4052C>T (p.Pro1351Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112840496G>A | CA10578385 | APC | c.4956G>A (p.Pro1652=) c.*4908G>A (n.*4908G>A) c.4848G>A (p.Pro1616=) c.4902G>A (p.Pro1634=) c.*4224G>A (n.*4224G>A) c.230+11524G>A c.4932G>A (p.Pro1644=) c.4827G>A (p.Pro1609=) c.4818G>A (p.Pro1606=) c.4779G>A (p.Pro1593=) c.4725G>A (p.Pro1575=) c.4629G>A (p.Pro1543=) c.4599G>A (p.Pro1533=) c.4524G>A (p.Pro1508=) c.4422G>A (p.Pro1474=) c.4053G>A (p.Pro1351=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112840496G>C | CA446208683 | APC | c.4956G>C (p.Pro1652=) c.*4908G>C (n.*4908G>C) c.4848G>C (p.Pro1616=) c.4902G>C (p.Pro1634=) c.*4224G>C (n.*4224G>C) c.230+11524G>C c.4932G>C (p.Pro1644=) c.4827G>C (p.Pro1609=) c.4818G>C (p.Pro1606=) c.4779G>C (p.Pro1593=) c.4725G>C (p.Pro1575=) c.4629G>C (p.Pro1543=) c.4599G>C (p.Pro1533=) c.4524G>C (p.Pro1508=) c.4422G>C (p.Pro1474=) c.4053G>C (p.Pro1351=) | ClinVar dbSNP |
| 5 | g.112840496G= | CA1573472411 | APC | c.4956G= (p.Pro1652=) c.*4908G= (n.*4908G=) c.4848G= (p.Pro1616=) c.4902G= (p.Pro1634=) c.*4224G= (n.*4224G=) c.230+11524G= c.4932G= (p.Pro1644=) c.4827G= (p.Pro1609=) c.4818G= (p.Pro1606=) c.4779G= (p.Pro1593=) c.4725G= (p.Pro1575=) c.4629G= (p.Pro1543=) c.4599G= (p.Pro1533=) c.4524G= (p.Pro1508=) c.4422G= (p.Pro1474=) c.4053G= (p.Pro1351=) | |
| 5 | g.112840496G>T | CA446208684 | APC | c.4956G>T (p.Pro1652=) c.*4908G>T (n.*4908G>T) c.4848G>T (p.Pro1616=) c.4902G>T (p.Pro1634=) c.*4224G>T (n.*4224G>T) c.230+11524G>T c.4932G>T (p.Pro1644=) c.4827G>T (p.Pro1609=) c.4818G>T (p.Pro1606=) c.4779G>T (p.Pro1593=) c.4725G>T (p.Pro1575=) c.4629G>T (p.Pro1543=) c.4599G>T (p.Pro1533=) c.4524G>T (p.Pro1508=) c.4422G>T (p.Pro1474=) c.4053G>T (p.Pro1351=) | dbSNP |
| 5 | g.112840500dup | CA658655955 | APC | c.4960dup (p.Asp1654GlyfsTer2) c.*4912dup (n.*4912dup) c.4852dup (p.Asp1618GlyfsTer2) c.4906dup (p.Asp1636GlyfsTer2) c.*4228dup (n.*4228dup) c.230+11528dup c.4936dup (p.Asp1646GlyfsTer2) c.4831dup (p.Asp1611GlyfsTer2) c.4822dup (p.Asp1608GlyfsTer2) c.4783dup (p.Asp1595GlyfsTer2) c.4729dup (p.Asp1577GlyfsTer2) c.4633dup (p.Asp1545GlyfsTer2) c.4603dup (p.Asp1535GlyfsTer2) c.4528dup (p.Asp1510GlyfsTer2) c.4426dup (p.Asp1476GlyfsTer2) c.4057dup (p.Asp1353GlyfsTer2) | ClinVar dbSNP |
| 5 | g.112840500del | CA658760792 | APC | c.4960del (p.Asp1654MetfsTer14) c.*4912del (n.*4912del) c.4852del (p.Asp1618MetfsTer14) c.4906del (p.Asp1636MetfsTer14) c.*4228del (n.*4228del) c.230+11528del c.4936del (p.Asp1646MetfsTer14) c.4831del (p.Asp1611MetfsTer14) c.4822del (p.Asp1608MetfsTer14) c.4783del (p.Asp1595MetfsTer14) c.4729del (p.Asp1577MetfsTer14) c.4633del (p.Asp1545MetfsTer14) c.4603del (p.Asp1535MetfsTer14) c.4528del (p.Asp1510MetfsTer14) c.4426del (p.Asp1476MetfsTer14) c.4057del (p.Asp1353MetfsTer14) | ClinVar dbSNP |
| 5 | g.112840497G>A | CA16032072 | APC | c.4957G>A (p.Gly1653Arg) c.*4909G>A (n.*4909G>A) c.4849G>A (p.Gly1617Arg) c.4903G>A (p.Gly1635Arg) c.*4225G>A (n.*4225G>A) c.230+11525G>A c.4933G>A (p.Gly1645Arg) c.4828G>A (p.Gly1610Arg) c.4819G>A (p.Gly1607Arg) c.4780G>A (p.Gly1594Arg) c.4726G>A (p.Gly1576Arg) c.4630G>A (p.Gly1544Arg) c.4600G>A (p.Gly1534Arg) c.4525G>A (p.Gly1509Arg) c.4423G>A (p.Gly1475Arg) c.4054G>A (p.Gly1352Arg) | dbSNP COSMIC |
| 5 | g.112840497G>C | CA16032073 | APC | c.4957G>C (p.Gly1653Arg) c.*4909G>C (n.*4909G>C) c.4849G>C (p.Gly1617Arg) c.4903G>C (p.Gly1635Arg) c.*4225G>C (n.*4225G>C) c.230+11525G>C c.4933G>C (p.Gly1645Arg) c.4828G>C (p.Gly1610Arg) c.4819G>C (p.Gly1607Arg) c.4780G>C (p.Gly1594Arg) c.4726G>C (p.Gly1576Arg) c.4630G>C (p.Gly1544Arg) c.4600G>C (p.Gly1534Arg) c.4525G>C (p.Gly1509Arg) c.4423G>C (p.Gly1475Arg) c.4054G>C (p.Gly1352Arg) | dbSNP |
| 5 | g.112840497G>T | CA16032074 | APC | c.4957G>T (p.Gly1653Trp) c.*4909G>T (n.*4909G>T) c.4849G>T (p.Gly1617Trp) c.4903G>T (p.Gly1635Trp) c.*4225G>T (n.*4225G>T) c.230+11525G>T c.4933G>T (p.Gly1645Trp) c.4828G>T (p.Gly1610Trp) c.4819G>T (p.Gly1607Trp) c.4780G>T (p.Gly1594Trp) c.4726G>T (p.Gly1576Trp) c.4630G>T (p.Gly1544Trp) c.4600G>T (p.Gly1534Trp) c.4525G>T (p.Gly1509Trp) c.4423G>T (p.Gly1475Trp) c.4054G>T (p.Gly1352Trp) | dbSNP gnomAD v4 COSMIC |
| 5 | g.112840498G>A | CA16032075 | APC | c.4958G>A (p.Gly1653Glu) c.*4910G>A (n.*4910G>A) c.4850G>A (p.Gly1617Glu) c.4904G>A (p.Gly1635Glu) c.*4226G>A (n.*4226G>A) c.230+11526G>A c.4934G>A (p.Gly1645Glu) c.4829G>A (p.Gly1610Glu) c.4820G>A (p.Gly1607Glu) c.4781G>A (p.Gly1594Glu) c.4727G>A (p.Gly1576Glu) c.4631G>A (p.Gly1544Glu) c.4601G>A (p.Gly1534Glu) c.4526G>A (p.Gly1509Glu) c.4424G>A (p.Gly1475Glu) c.4055G>A (p.Gly1352Glu) | ClinVar dbSNP |
| 5 | g.112840498G>C | CA16032076 | APC | c.4958G>C (p.Gly1653Ala) c.*4910G>C (n.*4910G>C) c.4850G>C (p.Gly1617Ala) c.4904G>C (p.Gly1635Ala) c.*4226G>C (n.*4226G>C) c.230+11526G>C c.4934G>C (p.Gly1645Ala) c.4829G>C (p.Gly1610Ala) c.4820G>C (p.Gly1607Ala) c.4781G>C (p.Gly1594Ala) c.4727G>C (p.Gly1576Ala) c.4631G>C (p.Gly1544Ala) c.4601G>C (p.Gly1534Ala) c.4526G>C (p.Gly1509Ala) c.4424G>C (p.Gly1475Ala) c.4055G>C (p.Gly1352Ala) | dbSNP gnomAD v4 |
| 5 | g.112840498G= | CA1573472438 | APC | c.4958G= (p.Gly1653=) c.*4910G= (n.*4910G=) c.4850G= (p.Gly1617=) c.4904G= (p.Gly1635=) c.*4226G= (n.*4226G=) c.230+11526G= c.4934G= (p.Gly1645=) c.4829G= (p.Gly1610=) c.4820G= (p.Gly1607=) c.4781G= (p.Gly1594=) c.4727G= (p.Gly1576=) c.4631G= (p.Gly1544=) c.4601G= (p.Gly1534=) c.4526G= (p.Gly1509=) c.4424G= (p.Gly1475=) c.4055G= (p.Gly1352=) | |
| 5 | g.112840498G>T | CA16032077 | APC | c.4958G>T (p.Gly1653Val) c.*4910G>T (n.*4910G>T) c.4850G>T (p.Gly1617Val) c.4904G>T (p.Gly1635Val) c.*4226G>T (n.*4226G>T) c.230+11526G>T c.4934G>T (p.Gly1645Val) c.4829G>T (p.Gly1610Val) c.4820G>T (p.Gly1607Val) c.4781G>T (p.Gly1594Val) c.4727G>T (p.Gly1576Val) c.4631G>T (p.Gly1544Val) c.4601G>T (p.Gly1534Val) c.4526G>T (p.Gly1509Val) c.4424G>T (p.Gly1475Val) c.4055G>T (p.Gly1352Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112840499G>A | CA009791 | APC | c.4959G>A (p.Gly1653=) c.*4911G>A (n.*4911G>A) c.4851G>A (p.Gly1617=) c.4905G>A (p.Gly1635=) c.*4227G>A (n.*4227G>A) c.230+11527G>A c.4935G>A (p.Gly1645=) c.4830G>A (p.Gly1610=) c.4821G>A (p.Gly1607=) c.4782G>A (p.Gly1594=) c.4728G>A (p.Gly1576=) c.4632G>A (p.Gly1544=) c.4602G>A (p.Gly1534=) c.4527G>A (p.Gly1509=) c.4425G>A (p.Gly1475=) c.4056G>A (p.Gly1352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840499G>C | CA446208685 | APC | c.4959G>C (p.Gly1653=) c.*4911G>C (n.*4911G>C) c.4851G>C (p.Gly1617=) c.4905G>C (p.Gly1635=) c.*4227G>C (n.*4227G>C) c.230+11527G>C c.4935G>C (p.Gly1645=) c.4830G>C (p.Gly1610=) c.4821G>C (p.Gly1607=) c.4782G>C (p.Gly1594=) c.4728G>C (p.Gly1576=) c.4632G>C (p.Gly1544=) c.4602G>C (p.Gly1534=) c.4527G>C (p.Gly1509=) c.4425G>C (p.Gly1475=) c.4056G>C (p.Gly1352=) | dbSNP |
| 5 | g.112840499G= | CA1573472444 | APC | c.4959G= (p.Gly1653=) c.*4911G= (n.*4911G=) c.4851G= (p.Gly1617=) c.4905G= (p.Gly1635=) c.*4227G= (n.*4227G=) c.230+11527G= c.4935G= (p.Gly1645=) c.4830G= (p.Gly1610=) c.4821G= (p.Gly1607=) c.4782G= (p.Gly1594=) c.4728G= (p.Gly1576=) c.4632G= (p.Gly1544=) c.4602G= (p.Gly1534=) c.4527G= (p.Gly1509=) c.4425G= (p.Gly1475=) c.4056G= (p.Gly1352=) | |
| 5 | g.112840499G>T | CA446208686 | APC | c.4959G>T (p.Gly1653=) c.*4911G>T (n.*4911G>T) c.4851G>T (p.Gly1617=) c.4905G>T (p.Gly1635=) c.*4227G>T (n.*4227G>T) c.230+11527G>T c.4935G>T (p.Gly1645=) c.4830G>T (p.Gly1610=) c.4821G>T (p.Gly1607=) c.4782G>T (p.Gly1594=) c.4728G>T (p.Gly1576=) c.4632G>T (p.Gly1544=) c.4602G>T (p.Gly1534=) c.4527G>T (p.Gly1509=) c.4425G>T (p.Gly1475=) c.4056G>T (p.Gly1352=) | ClinVar dbSNP |
| 5 | g.112840500G>A | CA040165 | APC | c.4960G>A (p.Asp1654Asn) c.*4912G>A (n.*4912G>A) c.4852G>A (p.Asp1618Asn) c.4906G>A (p.Asp1636Asn) c.*4228G>A (n.*4228G>A) c.230+11528G>A c.4936G>A (p.Asp1646Asn) c.4831G>A (p.Asp1611Asn) c.4822G>A (p.Asp1608Asn) c.4783G>A (p.Asp1595Asn) c.4729G>A (p.Asp1577Asn) c.4633G>A (p.Asp1545Asn) c.4603G>A (p.Asp1535Asn) c.4528G>A (p.Asp1510Asn) c.4426G>A (p.Asp1476Asn) c.4057G>A (p.Asp1353Asn) | dbSNP ExAC gnomAD v2 |
| 5 | g.112840500G>C | CA16032078 | APC | c.4960G>C (p.Asp1654His) c.*4912G>C (n.*4912G>C) c.4852G>C (p.Asp1618His) c.4906G>C (p.Asp1636His) c.*4228G>C (n.*4228G>C) c.230+11528G>C c.4936G>C (p.Asp1646His) c.4831G>C (p.Asp1611His) c.4822G>C (p.Asp1608His) c.4783G>C (p.Asp1595His) c.4729G>C (p.Asp1577His) c.4633G>C (p.Asp1545His) c.4603G>C (p.Asp1535His) c.4528G>C (p.Asp1510His) c.4426G>C (p.Asp1476His) c.4057G>C (p.Asp1353His) | dbSNP |
| 5 | g.112840500G= | CA1573472451 | APC | c.4960G= (p.Asp1654=) c.*4912G= (n.*4912G=) c.4852G= (p.Asp1618=) c.4906G= (p.Asp1636=) c.*4228G= (n.*4228G=) c.230+11528G= c.4936G= (p.Asp1646=) c.4831G= (p.Asp1611=) c.4822G= (p.Asp1608=) c.4783G= (p.Asp1595=) c.4729G= (p.Asp1577=) c.4633G= (p.Asp1545=) c.4603G= (p.Asp1535=) c.4528G= (p.Asp1510=) c.4426G= (p.Asp1476=) c.4057G= (p.Asp1353=) | |
| 5 | g.112840500G>T | CA009798 | APC | c.4960G>T (p.Asp1654Tyr) c.*4912G>T (n.*4912G>T) c.4852G>T (p.Asp1618Tyr) c.4906G>T (p.Asp1636Tyr) c.*4228G>T (n.*4228G>T) c.230+11528G>T c.4936G>T (p.Asp1646Tyr) c.4831G>T (p.Asp1611Tyr) c.4822G>T (p.Asp1608Tyr) c.4783G>T (p.Asp1595Tyr) c.4729G>T (p.Asp1577Tyr) c.4633G>T (p.Asp1545Tyr) c.4603G>T (p.Asp1535Tyr) c.4528G>T (p.Asp1510Tyr) c.4426G>T (p.Asp1476Tyr) c.4057G>T (p.Asp1353Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840501del | CA2695205308 | APC | c.4961del (p.Asp1654ValfsTer14) c.*4913del (n.*4913del) c.4853del (p.Asp1618ValfsTer14) c.4907del (p.Asp1636ValfsTer14) c.*4229del (n.*4229del) c.230+11529del c.4937del (p.Asp1646ValfsTer14) c.4832del (p.Asp1611ValfsTer14) c.4823del (p.Asp1608ValfsTer14) c.4784del (p.Asp1595ValfsTer14) c.4730del (p.Asp1577ValfsTer14) c.4634del (p.Asp1545ValfsTer14) c.4604del (p.Asp1535ValfsTer14) c.4529del (p.Asp1510ValfsTer14) c.4427del (p.Asp1476ValfsTer14) c.4058del (p.Asp1353ValfsTer14) | |
| 5 | g.112840501A>C | CA16032079 | APC | c.4961A>C (p.Asp1654Ala) c.*4913A>C (n.*4913A>C) c.4853A>C (p.Asp1618Ala) c.4907A>C (p.Asp1636Ala) c.*4229A>C (n.*4229A>C) c.230+11529A>C c.4937A>C (p.Asp1646Ala) c.4832A>C (p.Asp1611Ala) c.4823A>C (p.Asp1608Ala) c.4784A>C (p.Asp1595Ala) c.4730A>C (p.Asp1577Ala) c.4634A>C (p.Asp1545Ala) c.4604A>C (p.Asp1535Ala) c.4529A>C (p.Asp1510Ala) c.4427A>C (p.Asp1476Ala) c.4058A>C (p.Asp1353Ala) | dbSNP |
| 5 | g.112840501A>G | CA16032080 | APC | c.4961A>G (p.Asp1654Gly) c.*4913A>G (n.*4913A>G) c.4853A>G (p.Asp1618Gly) c.4907A>G (p.Asp1636Gly) c.*4229A>G (n.*4229A>G) c.230+11529A>G c.4937A>G (p.Asp1646Gly) c.4832A>G (p.Asp1611Gly) c.4823A>G (p.Asp1608Gly) c.4784A>G (p.Asp1595Gly) c.4730A>G (p.Asp1577Gly) c.4634A>G (p.Asp1545Gly) c.4604A>G (p.Asp1535Gly) c.4529A>G (p.Asp1510Gly) c.4427A>G (p.Asp1476Gly) c.4058A>G (p.Asp1353Gly) | ClinVar dbSNP |
| 5 | g.112840501A>T | CA16032081 | APC | c.4961A>T (p.Asp1654Val) c.*4913A>T (n.*4913A>T) c.4853A>T (p.Asp1618Val) c.4907A>T (p.Asp1636Val) c.*4229A>T (n.*4229A>T) c.230+11529A>T c.4937A>T (p.Asp1646Val) c.4832A>T (p.Asp1611Val) c.4823A>T (p.Asp1608Val) c.4784A>T (p.Asp1595Val) c.4730A>T (p.Asp1577Val) c.4634A>T (p.Asp1545Val) c.4604A>T (p.Asp1535Val) c.4529A>T (p.Asp1510Val) c.4427A>T (p.Asp1476Val) c.4058A>T (p.Asp1353Val) | ClinVar dbSNP |
| 5 | g.112840501dup | CA2582341394 | APC | c.4961dup (p.Asp1654GlufsTer2) c.*4913dup (n.*4913dup) c.4853dup (p.Asp1618GlufsTer2) c.4907dup (p.Asp1636GlufsTer2) c.*4229dup (n.*4229dup) c.230+11529dup c.4937dup (p.Asp1646GlufsTer2) c.4832dup (p.Asp1611GlufsTer2) c.4823dup (p.Asp1608GlufsTer2) c.4784dup (p.Asp1595GlufsTer2) c.4730dup (p.Asp1577GlufsTer2) c.4634dup (p.Asp1545GlufsTer2) c.4604dup (p.Asp1535GlufsTer2) c.4529dup (p.Asp1510GlufsTer2) c.4427dup (p.Asp1476GlufsTer2) c.4058dup (p.Asp1353GlufsTer2) | ClinVar |
| 5 | g.112840502T>A | CA16032082 | APC | c.4962T>A (p.Asp1654Glu) c.*4914T>A (n.*4914T>A) c.4854T>A (p.Asp1618Glu) c.4908T>A (p.Asp1636Glu) c.*4230T>A (n.*4230T>A) c.230+11530T>A c.4938T>A (p.Asp1646Glu) c.4833T>A (p.Asp1611Glu) c.4824T>A (p.Asp1608Glu) c.4785T>A (p.Asp1595Glu) c.4731T>A (p.Asp1577Glu) c.4635T>A (p.Asp1545Glu) c.4605T>A (p.Asp1535Glu) c.4530T>A (p.Asp1510Glu) c.4428T>A (p.Asp1476Glu) c.4059T>A (p.Asp1353Glu) | dbSNP |
| 5 | g.112840502T>C | CA446208687 | APC | c.4962T>C (p.Asp1654=) c.*4914T>C (n.*4914T>C) c.4854T>C (p.Asp1618=) c.4908T>C (p.Asp1636=) c.*4230T>C (n.*4230T>C) c.230+11530T>C c.4938T>C (p.Asp1646=) c.4833T>C (p.Asp1611=) c.4824T>C (p.Asp1608=) c.4785T>C (p.Asp1595=) c.4731T>C (p.Asp1577=) c.4635T>C (p.Asp1545=) c.4605T>C (p.Asp1535=) c.4530T>C (p.Asp1510=) c.4428T>C (p.Asp1476=) c.4059T>C (p.Asp1353=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840502T>G | CA16032083 | APC | c.4962T>G (p.Asp1654Glu) c.*4914T>G (n.*4914T>G) c.4854T>G (p.Asp1618Glu) c.4908T>G (p.Asp1636Glu) c.*4230T>G (n.*4230T>G) c.230+11530T>G c.4938T>G (p.Asp1646Glu) c.4833T>G (p.Asp1611Glu) c.4824T>G (p.Asp1608Glu) c.4785T>G (p.Asp1595Glu) c.4731T>G (p.Asp1577Glu) c.4635T>G (p.Asp1545Glu) c.4605T>G (p.Asp1535Glu) c.4530T>G (p.Asp1510Glu) c.4428T>G (p.Asp1476Glu) c.4059T>G (p.Asp1353Glu) | dbSNP |
| 5 | g.112840502T= | CA1573472456 | APC | c.4962T= (p.Asp1654=) c.*4914T= (n.*4914T=) c.4854T= (p.Asp1618=) c.4908T= (p.Asp1636=) c.*4230T= (n.*4230T=) c.230+11530T= c.4938T= (p.Asp1646=) c.4833T= (p.Asp1611=) c.4824T= (p.Asp1608=) c.4785T= (p.Asp1595=) c.4731T= (p.Asp1577=) c.4635T= (p.Asp1545=) c.4605T= (p.Asp1535=) c.4530T= (p.Asp1510=) c.4428T= (p.Asp1476=) c.4059T= (p.Asp1353=) | |
| 5 | g.112840502_112840514del | CA2582341395 | APC | c.4962_4974del (p.Asp1654GlufsTer10) c.*4914_*4926del (n.*4914_*4926del) c.4854_4866del (p.Asp1618GlufsTer10) c.4908_4920del (p.Asp1636GlufsTer10) c.*4230_*4242del (n.*4230_*4242del) c.230+11530_230+11542del c.4938_4950del (p.Asp1646GlufsTer10) c.4833_4845del (p.Asp1611GlufsTer10) c.4824_4836del (p.Asp1608GlufsTer10) c.4785_4797del (p.Asp1595GlufsTer10) c.4731_4743del (p.Asp1577GlufsTer10) c.4635_4647del (p.Asp1545GlufsTer10) c.4605_4617del (p.Asp1535GlufsTer10) c.4530_4542del (p.Asp1510GlufsTer10) c.4428_4440del (p.Asp1476GlufsTer10) c.4059_4071del (p.Asp1353GlufsTer10) | ClinVar |
| 5 | g.112840503G>A | CA16032084 | APC | c.4963G>A (p.Asp1655Asn) c.*4915G>A (n.*4915G>A) c.4855G>A (p.Asp1619Asn) c.4909G>A (p.Asp1637Asn) c.*4231G>A (n.*4231G>A) c.230+11531G>A c.4939G>A (p.Asp1647Asn) c.4834G>A (p.Asp1612Asn) c.4825G>A (p.Asp1609Asn) c.4786G>A (p.Asp1596Asn) c.4732G>A (p.Asp1578Asn) c.4636G>A (p.Asp1546Asn) c.4606G>A (p.Asp1536Asn) c.4531G>A (p.Asp1511Asn) c.4429G>A (p.Asp1477Asn) c.4060G>A (p.Asp1354Asn) | ClinVar dbSNP |
| 5 | g.112840503G>C | CA16032085 | APC | c.4963G>C (p.Asp1655His) c.*4915G>C (n.*4915G>C) c.4855G>C (p.Asp1619His) c.4909G>C (p.Asp1637His) c.*4231G>C (n.*4231G>C) c.230+11531G>C c.4939G>C (p.Asp1647His) c.4834G>C (p.Asp1612His) c.4825G>C (p.Asp1609His) c.4786G>C (p.Asp1596His) c.4732G>C (p.Asp1578His) c.4636G>C (p.Asp1546His) c.4606G>C (p.Asp1536His) c.4531G>C (p.Asp1511His) c.4429G>C (p.Asp1477His) c.4060G>C (p.Asp1354His) | ClinVar dbSNP |
| 5 | g.112840503G= | CA1573472468 | APC | c.4963G= (p.Asp1655=) c.*4915G= (n.*4915G=) c.4855G= (p.Asp1619=) c.4909G= (p.Asp1637=) c.*4231G= (n.*4231G=) c.230+11531G= c.4939G= (p.Asp1647=) c.4834G= (p.Asp1612=) c.4825G= (p.Asp1609=) c.4786G= (p.Asp1596=) c.4732G= (p.Asp1578=) c.4636G= (p.Asp1546=) c.4606G= (p.Asp1536=) c.4531G= (p.Asp1511=) c.4429G= (p.Asp1477=) c.4060G= (p.Asp1354=) | |
| 5 | g.112840503G>T | CA16032086 | APC | c.4963G>T (p.Asp1655Tyr) c.*4915G>T (n.*4915G>T) c.4855G>T (p.Asp1619Tyr) c.4909G>T (p.Asp1637Tyr) c.*4231G>T (n.*4231G>T) c.230+11531G>T c.4939G>T (p.Asp1647Tyr) c.4834G>T (p.Asp1612Tyr) c.4825G>T (p.Asp1609Tyr) c.4786G>T (p.Asp1596Tyr) c.4732G>T (p.Asp1578Tyr) c.4636G>T (p.Asp1546Tyr) c.4606G>T (p.Asp1536Tyr) c.4531G>T (p.Asp1511Tyr) c.4429G>T (p.Asp1477Tyr) c.4060G>T (p.Asp1354Tyr) | ClinVar dbSNP COSMIC |
| 5 | g.112840504A>C | CA16032087 | APC | c.4964A>C (p.Asp1655Ala) c.*4916A>C (n.*4916A>C) c.4856A>C (p.Asp1619Ala) c.4910A>C (p.Asp1637Ala) c.*4232A>C (n.*4232A>C) c.230+11532A>C c.4940A>C (p.Asp1647Ala) c.4835A>C (p.Asp1612Ala) c.4826A>C (p.Asp1609Ala) c.4787A>C (p.Asp1596Ala) c.4733A>C (p.Asp1578Ala) c.4637A>C (p.Asp1546Ala) c.4607A>C (p.Asp1536Ala) c.4532A>C (p.Asp1511Ala) c.4430A>C (p.Asp1477Ala) c.4061A>C (p.Asp1354Ala) | |
| 5 | g.112840504A>G | CA16032088 | APC | c.4964A>G (p.Asp1655Gly) c.*4916A>G (n.*4916A>G) c.4856A>G (p.Asp1619Gly) c.4910A>G (p.Asp1637Gly) c.*4232A>G (n.*4232A>G) c.230+11532A>G c.4940A>G (p.Asp1647Gly) c.4835A>G (p.Asp1612Gly) c.4826A>G (p.Asp1609Gly) c.4787A>G (p.Asp1596Gly) c.4733A>G (p.Asp1578Gly) c.4637A>G (p.Asp1546Gly) c.4607A>G (p.Asp1536Gly) c.4532A>G (p.Asp1511Gly) c.4430A>G (p.Asp1477Gly) c.4061A>G (p.Asp1354Gly) | ClinVar gnomAD v4 |
| 5 | g.112840504A>T | CA16032089 | APC | c.4964A>T (p.Asp1655Val) c.*4916A>T (n.*4916A>T) c.4856A>T (p.Asp1619Val) c.4910A>T (p.Asp1637Val) c.*4232A>T (n.*4232A>T) c.230+11532A>T c.4940A>T (p.Asp1647Val) c.4835A>T (p.Asp1612Val) c.4826A>T (p.Asp1609Val) c.4787A>T (p.Asp1596Val) c.4733A>T (p.Asp1578Val) c.4637A>T (p.Asp1546Val) c.4607A>T (p.Asp1536Val) c.4532A>T (p.Asp1511Val) c.4430A>T (p.Asp1477Val) c.4061A>T (p.Asp1354Val) | gnomAD v4 |
| 5 | g.112840505T>A | CA16032090 | APC | c.4965T>A (p.Asp1655Glu) c.*4917T>A (n.*4917T>A) c.4857T>A (p.Asp1619Glu) c.4911T>A (p.Asp1637Glu) c.*4233T>A (n.*4233T>A) c.230+11533T>A c.4941T>A (p.Asp1647Glu) c.4836T>A (p.Asp1612Glu) c.4827T>A (p.Asp1609Glu) c.4788T>A (p.Asp1596Glu) c.4734T>A (p.Asp1578Glu) c.4638T>A (p.Asp1546Glu) c.4608T>A (p.Asp1536Glu) c.4533T>A (p.Asp1511Glu) c.4431T>A (p.Asp1477Glu) c.4062T>A (p.Asp1354Glu) | dbSNP |
| 5 | g.112840505T>C | CA446208688 | APC | c.4965T>C (p.Asp1655=) c.*4917T>C (n.*4917T>C) c.4857T>C (p.Asp1619=) c.4911T>C (p.Asp1637=) c.*4233T>C (n.*4233T>C) c.230+11533T>C c.4941T>C (p.Asp1647=) c.4836T>C (p.Asp1612=) c.4827T>C (p.Asp1609=) c.4788T>C (p.Asp1596=) c.4734T>C (p.Asp1578=) c.4638T>C (p.Asp1546=) c.4608T>C (p.Asp1536=) c.4533T>C (p.Asp1511=) c.4431T>C (p.Asp1477=) c.4062T>C (p.Asp1354=) | dbSNP |
| 5 | g.112840505T>G | CA16032091 | APC | c.4965T>G (p.Asp1655Glu) c.*4917T>G (n.*4917T>G) c.4857T>G (p.Asp1619Glu) c.4911T>G (p.Asp1637Glu) c.*4233T>G (n.*4233T>G) c.230+11533T>G c.4941T>G (p.Asp1647Glu) c.4836T>G (p.Asp1612Glu) c.4827T>G (p.Asp1609Glu) c.4788T>G (p.Asp1596Glu) c.4734T>G (p.Asp1578Glu) c.4638T>G (p.Asp1546Glu) c.4608T>G (p.Asp1536Glu) c.4533T>G (p.Asp1511Glu) c.4431T>G (p.Asp1477Glu) c.4062T>G (p.Asp1354Glu) | dbSNP |
| 5 | g.112840506A= | CA1573472473 | APC | c.4966A= (p.Met1656=) c.*4918A= (n.*4918A=) c.4858A= (p.Met1620=) c.4912A= (p.Met1638=) c.*4234A= (n.*4234A=) c.230+11534A= c.4942A= (p.Met1648=) c.4837A= (p.Met1613=) c.4828A= (p.Met1610=) c.4789A= (p.Met1597=) c.4735A= (p.Met1579=) c.4639A= (p.Met1547=) c.4609A= (p.Met1537=) c.4534A= (p.Met1512=) c.4432A= (p.Met1478=) c.4063A= (p.Met1355=) |