WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.112840791C>A | CA16032689 | APC | c.5251C>A (p.Pro1751Thr) c.*5203C>A (n.*5203C>A) c.5143C>A (p.Pro1715Thr) c.5197C>A (p.Pro1733Thr) c.*4519C>A (n.*4519C>A) c.230+11819C>A c.5227C>A (p.Pro1743Thr) c.5122C>A (p.Pro1708Thr) c.5113C>A (p.Pro1705Thr) c.5074C>A (p.Pro1692Thr) c.5020C>A (p.Pro1674Thr) c.4924C>A (p.Pro1642Thr) c.4894C>A (p.Pro1632Thr) c.4819C>A (p.Pro1607Thr) c.4717C>A (p.Pro1573Thr) c.4348C>A (p.Pro1450Thr) | dbSNP |
| 5 | g.112840791C= | CA1573474640 | APC | c.5251C= (p.Pro1751=) c.*5203C= (n.*5203C=) c.5143C= (p.Pro1715=) c.5197C= (p.Pro1733=) c.*4519C= (n.*4519C=) c.230+11819C= c.5227C= (p.Pro1743=) c.5122C= (p.Pro1708=) c.5113C= (p.Pro1705=) c.5074C= (p.Pro1692=) c.5020C= (p.Pro1674=) c.4924C= (p.Pro1642=) c.4894C= (p.Pro1632=) c.4819C= (p.Pro1607=) c.4717C= (p.Pro1573=) c.4348C= (p.Pro1450=) | |
| 5 | g.112840791C>G | CA16032690 | APC | c.5251C>G (p.Pro1751Ala) c.*5203C>G (n.*5203C>G) c.5143C>G (p.Pro1715Ala) c.5197C>G (p.Pro1733Ala) c.*4519C>G (n.*4519C>G) c.230+11819C>G c.5227C>G (p.Pro1743Ala) c.5122C>G (p.Pro1708Ala) c.5113C>G (p.Pro1705Ala) c.5074C>G (p.Pro1692Ala) c.5020C>G (p.Pro1674Ala) c.4924C>G (p.Pro1642Ala) c.4894C>G (p.Pro1632Ala) c.4819C>G (p.Pro1607Ala) c.4717C>G (p.Pro1573Ala) c.4348C>G (p.Pro1450Ala) | ClinVar dbSNP |
| 5 | g.112840791C>T | CA16032691 | APC | c.5251C>T (p.Pro1751Ser) c.*5203C>T (n.*5203C>T) c.5143C>T (p.Pro1715Ser) c.5197C>T (p.Pro1733Ser) c.*4519C>T (n.*4519C>T) c.230+11819C>T c.5227C>T (p.Pro1743Ser) c.5122C>T (p.Pro1708Ser) c.5113C>T (p.Pro1705Ser) c.5074C>T (p.Pro1692Ser) c.5020C>T (p.Pro1674Ser) c.4924C>T (p.Pro1642Ser) c.4894C>T (p.Pro1632Ser) c.4819C>T (p.Pro1607Ser) c.4717C>T (p.Pro1573Ser) c.4348C>T (p.Pro1450Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112840792C>A | CA16032692 | APC | c.5252C>A (p.Pro1751His) c.*5204C>A (n.*5204C>A) c.5144C>A (p.Pro1715His) c.5198C>A (p.Pro1733His) c.*4520C>A (n.*4520C>A) c.230+11820C>A c.5228C>A (p.Pro1743His) c.5123C>A (p.Pro1708His) c.5114C>A (p.Pro1705His) c.5075C>A (p.Pro1692His) c.5021C>A (p.Pro1674His) c.4925C>A (p.Pro1642His) c.4895C>A (p.Pro1632His) c.4820C>A (p.Pro1607His) c.4718C>A (p.Pro1573His) c.4349C>A (p.Pro1450His) | dbSNP |
| 5 | g.112840792C= | CA1573474649 | APC | c.5252C= (p.Pro1751=) c.*5204C= (n.*5204C=) c.5144C= (p.Pro1715=) c.5198C= (p.Pro1733=) c.*4520C= (n.*4520C=) c.230+11820C= c.5228C= (p.Pro1743=) c.5123C= (p.Pro1708=) c.5114C= (p.Pro1705=) c.5075C= (p.Pro1692=) c.5021C= (p.Pro1674=) c.4925C= (p.Pro1642=) c.4895C= (p.Pro1632=) c.4820C= (p.Pro1607=) c.4718C= (p.Pro1573=) c.4349C= (p.Pro1450=) | |
| 5 | g.112840792C>G | CA16032693 | APC | c.5252C>G (p.Pro1751Arg) c.*5204C>G (n.*5204C>G) c.5144C>G (p.Pro1715Arg) c.5198C>G (p.Pro1733Arg) c.*4520C>G (n.*4520C>G) c.230+11820C>G c.5228C>G (p.Pro1743Arg) c.5123C>G (p.Pro1708Arg) c.5114C>G (p.Pro1705Arg) c.5075C>G (p.Pro1692Arg) c.5021C>G (p.Pro1674Arg) c.4925C>G (p.Pro1642Arg) c.4895C>G (p.Pro1632Arg) c.4820C>G (p.Pro1607Arg) c.4718C>G (p.Pro1573Arg) c.4349C>G (p.Pro1450Arg) | dbSNP |
| 5 | g.112840792C>T | CA16032694 | APC | c.5252C>T (p.Pro1751Leu) c.*5204C>T (n.*5204C>T) c.5144C>T (p.Pro1715Leu) c.5198C>T (p.Pro1733Leu) c.*4520C>T (n.*4520C>T) c.230+11820C>T c.5228C>T (p.Pro1743Leu) c.5123C>T (p.Pro1708Leu) c.5114C>T (p.Pro1705Leu) c.5075C>T (p.Pro1692Leu) c.5021C>T (p.Pro1674Leu) c.4925C>T (p.Pro1642Leu) c.4895C>T (p.Pro1632Leu) c.4820C>T (p.Pro1607Leu) c.4718C>T (p.Pro1573Leu) c.4349C>T (p.Pro1450Leu) | ClinVar dbSNP |
| 5 | g.112840793C>A | CA446209637 | APC | c.5253C>A (p.Pro1751=) c.*5205C>A (n.*5205C>A) c.5145C>A (p.Pro1715=) c.5199C>A (p.Pro1733=) c.*4521C>A (n.*4521C>A) c.230+11821C>A c.5229C>A (p.Pro1743=) c.5124C>A (p.Pro1708=) c.5115C>A (p.Pro1705=) c.5076C>A (p.Pro1692=) c.5022C>A (p.Pro1674=) c.4926C>A (p.Pro1642=) c.4896C>A (p.Pro1632=) c.4821C>A (p.Pro1607=) c.4719C>A (p.Pro1573=) c.4350C>A (p.Pro1450=) | |
| 5 | g.112840793C>G | CA446209638 | APC | c.5253C>G (p.Pro1751=) c.*5205C>G (n.*5205C>G) c.5145C>G (p.Pro1715=) c.5199C>G (p.Pro1733=) c.*4521C>G (n.*4521C>G) c.230+11821C>G c.5229C>G (p.Pro1743=) c.5124C>G (p.Pro1708=) c.5115C>G (p.Pro1705=) c.5076C>G (p.Pro1692=) c.5022C>G (p.Pro1674=) c.4926C>G (p.Pro1642=) c.4896C>G (p.Pro1632=) c.4821C>G (p.Pro1607=) c.4719C>G (p.Pro1573=) c.4350C>G (p.Pro1450=) | ClinVar |
| 5 | g.112840793C>T | CA446209639 | APC | c.5253C>T (p.Pro1751=) c.*5205C>T (n.*5205C>T) c.5145C>T (p.Pro1715=) c.5199C>T (p.Pro1733=) c.*4521C>T (n.*4521C>T) c.230+11821C>T c.5229C>T (p.Pro1743=) c.5124C>T (p.Pro1708=) c.5115C>T (p.Pro1705=) c.5076C>T (p.Pro1692=) c.5022C>T (p.Pro1674=) c.4926C>T (p.Pro1642=) c.4896C>T (p.Pro1632=) c.4821C>T (p.Pro1607=) c.4719C>T (p.Pro1573=) c.4350C>T (p.Pro1450=) | |
| 5 | g.112840794A>C | CA16032695 | APC | c.5254A>C (p.Lys1752Gln) c.*5206A>C (n.*5206A>C) c.5146A>C (p.Lys1716Gln) c.5200A>C (p.Lys1734Gln) c.*4522A>C (n.*4522A>C) c.230+11822A>C c.5230A>C (p.Lys1744Gln) c.5125A>C (p.Lys1709Gln) c.5116A>C (p.Lys1706Gln) c.5077A>C (p.Lys1693Gln) c.5023A>C (p.Lys1675Gln) c.4927A>C (p.Lys1643Gln) c.4897A>C (p.Lys1633Gln) c.4822A>C (p.Lys1608Gln) c.4720A>C (p.Lys1574Gln) c.4351A>C (p.Lys1451Gln) | |
| 5 | g.112840794A>G | CA16032696 | APC | c.5254A>G (p.Lys1752Glu) c.*5206A>G (n.*5206A>G) c.5146A>G (p.Lys1716Glu) c.5200A>G (p.Lys1734Glu) c.*4522A>G (n.*4522A>G) c.230+11822A>G c.5230A>G (p.Lys1744Glu) c.5125A>G (p.Lys1709Glu) c.5116A>G (p.Lys1706Glu) c.5077A>G (p.Lys1693Glu) c.5023A>G (p.Lys1675Glu) c.4927A>G (p.Lys1643Glu) c.4897A>G (p.Lys1633Glu) c.4822A>G (p.Lys1608Glu) c.4720A>G (p.Lys1574Glu) c.4351A>G (p.Lys1451Glu) | |
| 5 | g.112840794A>T | CA16032697 | APC | c.5254A>T (p.Lys1752Ter) c.*5206A>T (n.*5206A>T) c.5146A>T (p.Lys1716Ter) c.5200A>T (p.Lys1734Ter) c.*4522A>T (n.*4522A>T) c.230+11822A>T c.5230A>T (p.Lys1744Ter) c.5125A>T (p.Lys1709Ter) c.5116A>T (p.Lys1706Ter) c.5077A>T (p.Lys1693Ter) c.5023A>T (p.Lys1675Ter) c.4927A>T (p.Lys1643Ter) c.4897A>T (p.Lys1633Ter) c.4822A>T (p.Lys1608Ter) c.4720A>T (p.Lys1574Ter) c.4351A>T (p.Lys1451Ter) | dbSNP |
| 5 | g.112840796del | CA2582341421 | APC | c.5256del (p.Ser1755ValfsTer7) c.*5208del (n.*5208del) c.5148del (p.Ser1719ValfsTer7) c.5202del (p.Ser1737ValfsTer7) c.*4524del (n.*4524del) c.230+11824del c.5232del (p.Ser1747ValfsTer7) c.5127del (p.Ser1712ValfsTer7) c.5118del (p.Ser1709ValfsTer7) c.5079del (p.Ser1696ValfsTer7) c.5025del (p.Ser1678ValfsTer7) c.4929del (p.Ser1646ValfsTer7) c.4899del (p.Ser1636ValfsTer7) c.4824del (p.Ser1611ValfsTer7) c.4722del (p.Ser1577ValfsTer7) c.4353del (p.Ser1454ValfsTer7) | ClinVar dbSNP |
| 5 | g.112840795A= | CA1573474660 | APC | c.5255A= (p.Lys1752=) c.*5207A= (n.*5207A=) c.5147A= (p.Lys1716=) c.5201A= (p.Lys1734=) c.*4523A= (n.*4523A=) c.230+11823A= c.5231A= (p.Lys1744=) c.5126A= (p.Lys1709=) c.5117A= (p.Lys1706=) c.5078A= (p.Lys1693=) c.5024A= (p.Lys1675=) c.4928A= (p.Lys1643=) c.4898A= (p.Lys1633=) c.4823A= (p.Lys1608=) c.4721A= (p.Lys1574=) c.4352A= (p.Lys1451=) | |
| 5 | g.112840795A>C | CA16032698 | APC | c.5255A>C (p.Lys1752Thr) c.*5207A>C (n.*5207A>C) c.5147A>C (p.Lys1716Thr) c.5201A>C (p.Lys1734Thr) c.*4523A>C (n.*4523A>C) c.230+11823A>C c.5231A>C (p.Lys1744Thr) c.5126A>C (p.Lys1709Thr) c.5117A>C (p.Lys1706Thr) c.5078A>C (p.Lys1693Thr) c.5024A>C (p.Lys1675Thr) c.4928A>C (p.Lys1643Thr) c.4898A>C (p.Lys1633Thr) c.4823A>C (p.Lys1608Thr) c.4721A>C (p.Lys1574Thr) c.4352A>C (p.Lys1451Thr) | ClinVar dbSNP |
| 5 | g.112840795A>G | CA16032699 | APC | c.5255A>G (p.Lys1752Arg) c.*5207A>G (n.*5207A>G) c.5147A>G (p.Lys1716Arg) c.5201A>G (p.Lys1734Arg) c.*4523A>G (n.*4523A>G) c.230+11823A>G c.5231A>G (p.Lys1744Arg) c.5126A>G (p.Lys1709Arg) c.5117A>G (p.Lys1706Arg) c.5078A>G (p.Lys1693Arg) c.5024A>G (p.Lys1675Arg) c.4928A>G (p.Lys1643Arg) c.4898A>G (p.Lys1633Arg) c.4823A>G (p.Lys1608Arg) c.4721A>G (p.Lys1574Arg) c.4352A>G (p.Lys1451Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840795A>T | CA16032700 | APC | c.5255A>T (p.Lys1752Ile) c.*5207A>T (n.*5207A>T) c.5147A>T (p.Lys1716Ile) c.5201A>T (p.Lys1734Ile) c.*4523A>T (n.*4523A>T) c.230+11823A>T c.5231A>T (p.Lys1744Ile) c.5126A>T (p.Lys1709Ile) c.5117A>T (p.Lys1706Ile) c.5078A>T (p.Lys1693Ile) c.5024A>T (p.Lys1675Ile) c.4928A>T (p.Lys1643Ile) c.4898A>T (p.Lys1633Ile) c.4823A>T (p.Lys1608Ile) c.4721A>T (p.Lys1574Ile) c.4352A>T (p.Lys1451Ile) | dbSNP |
| 5 | g.112840795_112840796delinsAA | CA1573474666 | APC | c.5255_5256delinsAA (p.Lys1752=) c.*5207_*5208delinsAA (n.*5207_*5208delinsAA) c.5147_5148delinsAA (p.Lys1716=) c.5201_5202delinsAA (p.Lys1734=) c.*4523_*4524delinsAA (n.*4523_*4524delinsAA) c.230+11823_230+11824delinsAA c.5231_5232delinsAA (p.Lys1744=) c.5126_5127delinsAA (p.Lys1709=) c.5117_5118delinsAA (p.Lys1706=) c.5078_5079delinsAA (p.Lys1693=) c.5024_5025delinsAA (p.Lys1675=) c.4928_4929delinsAA (p.Lys1643=) c.4898_4899delinsAA (p.Lys1633=) c.4823_4824delinsAA (p.Lys1608=) c.4721_4722delinsAA (p.Lys1574=) c.4352_4353delinsAA (p.Lys1451=) | |
| 5 | g.112840795_112840796delinsGT | CA1573474669 | APC | c.5255_5256delinsGT (p.Lys1752Ser) c.*5207_*5208delinsGT (n.*5207_*5208delinsGT) c.5147_5148delinsGT (p.Lys1716Ser) c.5201_5202delinsGT (p.Lys1734Ser) c.*4523_*4524delinsGT (n.*4523_*4524delinsGT) c.230+11823_230+11824delinsGT c.5231_5232delinsGT (p.Lys1744Ser) c.5126_5127delinsGT (p.Lys1709Ser) c.5117_5118delinsGT (p.Lys1706Ser) c.5078_5079delinsGT (p.Lys1693Ser) c.5024_5025delinsGT (p.Lys1675Ser) c.4928_4929delinsGT (p.Lys1643Ser) c.4898_4899delinsGT (p.Lys1633Ser) c.4823_4824delinsGT (p.Lys1608Ser) c.4721_4722delinsGT (p.Lys1574Ser) c.4352_4353delinsGT (p.Lys1451Ser) | ClinVar dbSNP |
| 5 | g.112840796A= | CA1573474672 | APC | c.5256A= (p.Lys1752=) c.*5208A= (n.*5208A=) c.5148A= (p.Lys1716=) c.5202A= (p.Lys1734=) c.*4524A= (n.*4524A=) c.230+11824A= c.5232A= (p.Lys1744=) c.5127A= (p.Lys1709=) c.5118A= (p.Lys1706=) c.5079A= (p.Lys1693=) c.5025A= (p.Lys1675=) c.4929A= (p.Lys1643=) c.4899A= (p.Lys1633=) c.4824A= (p.Lys1608=) c.4722A= (p.Lys1574=) c.4353A= (p.Lys1451=) | |
| 5 | g.112840796A>C | CA16032701 | APC | c.5256A>C (p.Lys1752Asn) c.*5208A>C (n.*5208A>C) c.5148A>C (p.Lys1716Asn) c.5202A>C (p.Lys1734Asn) c.*4524A>C (n.*4524A>C) c.230+11824A>C c.5232A>C (p.Lys1744Asn) c.5127A>C (p.Lys1709Asn) c.5118A>C (p.Lys1706Asn) c.5079A>C (p.Lys1693Asn) c.5025A>C (p.Lys1675Asn) c.4929A>C (p.Lys1643Asn) c.4899A>C (p.Lys1633Asn) c.4824A>C (p.Lys1608Asn) c.4722A>C (p.Lys1574Asn) c.4353A>C (p.Lys1451Asn) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840796A>G | CA446209640 | APC | c.5256A>G (p.Lys1752=) c.*5208A>G (n.*5208A>G) c.5148A>G (p.Lys1716=) c.5202A>G (p.Lys1734=) c.*4524A>G (n.*4524A>G) c.230+11824A>G c.5232A>G (p.Lys1744=) c.5127A>G (p.Lys1709=) c.5118A>G (p.Lys1706=) c.5079A>G (p.Lys1693=) c.5025A>G (p.Lys1675=) c.4929A>G (p.Lys1643=) c.4899A>G (p.Lys1633=) c.4824A>G (p.Lys1608=) c.4722A>G (p.Lys1574=) c.4353A>G (p.Lys1451=) | ClinVar dbSNP |
| 5 | g.112840796A>T | CA16032702 | APC | c.5256A>T (p.Lys1752Asn) c.*5208A>T (n.*5208A>T) c.5148A>T (p.Lys1716Asn) c.5202A>T (p.Lys1734Asn) c.*4524A>T (n.*4524A>T) c.230+11824A>T c.5232A>T (p.Lys1744Asn) c.5127A>T (p.Lys1709Asn) c.5118A>T (p.Lys1706Asn) c.5079A>T (p.Lys1693Asn) c.5025A>T (p.Lys1675Asn) c.4929A>T (p.Lys1643Asn) c.4899A>T (p.Lys1633Asn) c.4824A>T (p.Lys1608Asn) c.4722A>T (p.Lys1574Asn) c.4353A>T (p.Lys1451Asn) | dbSNP |
| 5 | g.112840797G>A | CA16032703 | APC | c.5257G>A (p.Gly1753Arg) c.*5209G>A (n.*5209G>A) c.5149G>A (p.Gly1717Arg) c.5203G>A (p.Gly1735Arg) c.*4525G>A (n.*4525G>A) c.230+11825G>A c.5233G>A (p.Gly1745Arg) c.5128G>A (p.Gly1710Arg) c.5119G>A (p.Gly1707Arg) c.5080G>A (p.Gly1694Arg) c.5026G>A (p.Gly1676Arg) c.4930G>A (p.Gly1644Arg) c.4900G>A (p.Gly1634Arg) c.4825G>A (p.Gly1609Arg) c.4723G>A (p.Gly1575Arg) c.4354G>A (p.Gly1452Arg) | ClinVar dbSNP |
| 5 | g.112840797G>C | CA16032704 | APC | c.5257G>C (p.Gly1753Arg) c.*5209G>C (n.*5209G>C) c.5149G>C (p.Gly1717Arg) c.5203G>C (p.Gly1735Arg) c.*4525G>C (n.*4525G>C) c.230+11825G>C c.5233G>C (p.Gly1745Arg) c.5128G>C (p.Gly1710Arg) c.5119G>C (p.Gly1707Arg) c.5080G>C (p.Gly1694Arg) c.5026G>C (p.Gly1676Arg) c.4930G>C (p.Gly1644Arg) c.4900G>C (p.Gly1634Arg) c.4825G>C (p.Gly1609Arg) c.4723G>C (p.Gly1575Arg) c.4354G>C (p.Gly1452Arg) | ClinVar dbSNP |
| 5 | g.112840797G= | CA1573474676 | APC | c.5257G= (p.Gly1753=) c.*5209G= (n.*5209G=) c.5149G= (p.Gly1717=) c.5203G= (p.Gly1735=) c.*4525G= (n.*4525G=) c.230+11825G= c.5233G= (p.Gly1745=) c.5128G= (p.Gly1710=) c.5119G= (p.Gly1707=) c.5080G= (p.Gly1694=) c.5026G= (p.Gly1676=) c.4930G= (p.Gly1644=) c.4900G= (p.Gly1634=) c.4825G= (p.Gly1609=) c.4723G= (p.Gly1575=) c.4354G= (p.Gly1452=) | |
| 5 | g.112840797G>T | CA16032705 | APC | c.5257G>T (p.Gly1753Trp) c.*5209G>T (n.*5209G>T) c.5149G>T (p.Gly1717Trp) c.5203G>T (p.Gly1735Trp) c.*4525G>T (n.*4525G>T) c.230+11825G>T c.5233G>T (p.Gly1745Trp) c.5128G>T (p.Gly1710Trp) c.5119G>T (p.Gly1707Trp) c.5080G>T (p.Gly1694Trp) c.5026G>T (p.Gly1676Trp) c.4930G>T (p.Gly1644Trp) c.4900G>T (p.Gly1634Trp) c.4825G>T (p.Gly1609Trp) c.4723G>T (p.Gly1575Trp) c.4354G>T (p.Gly1452Trp) | |
| 5 | g.112840798G>A | CA16032706 | APC | c.5258G>A (p.Gly1753Glu) c.*5210G>A (n.*5210G>A) c.5150G>A (p.Gly1717Glu) c.5204G>A (p.Gly1735Glu) c.*4526G>A (n.*4526G>A) c.230+11826G>A c.5234G>A (p.Gly1745Glu) c.5129G>A (p.Gly1710Glu) c.5120G>A (p.Gly1707Glu) c.5081G>A (p.Gly1694Glu) c.5027G>A (p.Gly1676Glu) c.4931G>A (p.Gly1644Glu) c.4901G>A (p.Gly1634Glu) c.4826G>A (p.Gly1609Glu) c.4724G>A (p.Gly1575Glu) c.4355G>A (p.Gly1452Glu) | dbSNP |
| 5 | g.112840798G>C | CA16032707 | APC | c.5258G>C (p.Gly1753Ala) c.*5210G>C (n.*5210G>C) c.5150G>C (p.Gly1717Ala) c.5204G>C (p.Gly1735Ala) c.*4526G>C (n.*4526G>C) c.230+11826G>C c.5234G>C (p.Gly1745Ala) c.5129G>C (p.Gly1710Ala) c.5120G>C (p.Gly1707Ala) c.5081G>C (p.Gly1694Ala) c.5027G>C (p.Gly1676Ala) c.4931G>C (p.Gly1644Ala) c.4901G>C (p.Gly1634Ala) c.4826G>C (p.Gly1609Ala) c.4724G>C (p.Gly1575Ala) c.4355G>C (p.Gly1452Ala) | dbSNP |
| 5 | g.112840798G>T | CA16032708 | APC | c.5258G>T (p.Gly1753Val) c.*5210G>T (n.*5210G>T) c.5150G>T (p.Gly1717Val) c.5204G>T (p.Gly1735Val) c.*4526G>T (n.*4526G>T) c.230+11826G>T c.5234G>T (p.Gly1745Val) c.5129G>T (p.Gly1710Val) c.5120G>T (p.Gly1707Val) c.5081G>T (p.Gly1694Val) c.5027G>T (p.Gly1676Val) c.4931G>T (p.Gly1644Val) c.4901G>T (p.Gly1634Val) c.4826G>T (p.Gly1609Val) c.4724G>T (p.Gly1575Val) c.4355G>T (p.Gly1452Val) | dbSNP |
| 5 | g.112840799G>A | CA446209641 | APC | c.5259G>A (p.Gly1753=) c.*5211G>A (n.*5211G>A) c.5151G>A (p.Gly1717=) c.5205G>A (p.Gly1735=) c.*4527G>A (n.*4527G>A) c.230+11827G>A c.5235G>A (p.Gly1745=) c.5130G>A (p.Gly1710=) c.5121G>A (p.Gly1707=) c.5082G>A (p.Gly1694=) c.5028G>A (p.Gly1676=) c.4932G>A (p.Gly1644=) c.4902G>A (p.Gly1634=) c.4827G>A (p.Gly1609=) c.4725G>A (p.Gly1575=) c.4356G>A (p.Gly1452=) | |
| 5 | g.112840799G>C | CA446209642 | APC | c.5259G>C (p.Gly1753=) c.*5211G>C (n.*5211G>C) c.5151G>C (p.Gly1717=) c.5205G>C (p.Gly1735=) c.*4527G>C (n.*4527G>C) c.230+11827G>C c.5235G>C (p.Gly1745=) c.5130G>C (p.Gly1710=) c.5121G>C (p.Gly1707=) c.5082G>C (p.Gly1694=) c.5028G>C (p.Gly1676=) c.4932G>C (p.Gly1644=) c.4902G>C (p.Gly1634=) c.4827G>C (p.Gly1609=) c.4725G>C (p.Gly1575=) c.4356G>C (p.Gly1452=) | ClinVar dbSNP |
| 5 | g.112840799G= | CA1573474685 | APC | c.5259G= (p.Gly1753=) c.*5211G= (n.*5211G=) c.5151G= (p.Gly1717=) c.5205G= (p.Gly1735=) c.*4527G= (n.*4527G=) c.230+11827G= c.5235G= (p.Gly1745=) c.5130G= (p.Gly1710=) c.5121G= (p.Gly1707=) c.5082G= (p.Gly1694=) c.5028G= (p.Gly1676=) c.4932G= (p.Gly1644=) c.4902G= (p.Gly1634=) c.4827G= (p.Gly1609=) c.4725G= (p.Gly1575=) c.4356G= (p.Gly1452=) | |
| 5 | g.112840799G>T | CA446209643 | APC | c.5259G>T (p.Gly1753=) c.*5211G>T (n.*5211G>T) c.5151G>T (p.Gly1717=) c.5205G>T (p.Gly1735=) c.*4527G>T (n.*4527G>T) c.230+11827G>T c.5235G>T (p.Gly1745=) c.5130G>T (p.Gly1710=) c.5121G>T (p.Gly1707=) c.5082G>T (p.Gly1694=) c.5028G>T (p.Gly1676=) c.4932G>T (p.Gly1644=) c.4902G>T (p.Gly1634=) c.4827G>T (p.Gly1609=) c.4725G>T (p.Gly1575=) c.4356G>T (p.Gly1452=) | ClinVar |
| 5 | g.112840800A>C | CA16032709 | APC | c.5260A>C (p.Lys1754Gln) c.*5212A>C (n.*5212A>C) c.5152A>C (p.Lys1718Gln) c.5206A>C (p.Lys1736Gln) c.*4528A>C (n.*4528A>C) c.230+11828A>C c.5236A>C (p.Lys1746Gln) c.5131A>C (p.Lys1711Gln) c.5122A>C (p.Lys1708Gln) c.5083A>C (p.Lys1695Gln) c.5029A>C (p.Lys1677Gln) c.4933A>C (p.Lys1645Gln) c.4903A>C (p.Lys1635Gln) c.4828A>C (p.Lys1610Gln) c.4726A>C (p.Lys1576Gln) c.4357A>C (p.Lys1453Gln) | dbSNP |
| 5 | g.112840800A>G | CA16032710 | APC | c.5260A>G (p.Lys1754Glu) c.*5212A>G (n.*5212A>G) c.5152A>G (p.Lys1718Glu) c.5206A>G (p.Lys1736Glu) c.*4528A>G (n.*4528A>G) c.230+11828A>G c.5236A>G (p.Lys1746Glu) c.5131A>G (p.Lys1711Glu) c.5122A>G (p.Lys1708Glu) c.5083A>G (p.Lys1695Glu) c.5029A>G (p.Lys1677Glu) c.4933A>G (p.Lys1645Glu) c.4903A>G (p.Lys1635Glu) c.4828A>G (p.Lys1610Glu) c.4726A>G (p.Lys1576Glu) c.4357A>G (p.Lys1453Glu) | dbSNP |
| 5 | g.112840800A>T | CA16032711 | APC | c.5260A>T (p.Lys1754Ter) c.*5212A>T (n.*5212A>T) c.5152A>T (p.Lys1718Ter) c.5206A>T (p.Lys1736Ter) c.*4528A>T (n.*4528A>T) c.230+11828A>T c.5236A>T (p.Lys1746Ter) c.5131A>T (p.Lys1711Ter) c.5122A>T (p.Lys1708Ter) c.5083A>T (p.Lys1695Ter) c.5029A>T (p.Lys1677Ter) c.4933A>T (p.Lys1645Ter) c.4903A>T (p.Lys1635Ter) c.4828A>T (p.Lys1610Ter) c.4726A>T (p.Lys1576Ter) c.4357A>T (p.Lys1453Ter) | dbSNP |
| 5 | g.112840801A= | CA1573474705 | APC | c.5261A= (p.Lys1754=) c.*5213A= (n.*5213A=) c.5153A= (p.Lys1718=) c.5207A= (p.Lys1736=) c.*4529A= (n.*4529A=) c.230+11829A= c.5237A= (p.Lys1746=) c.5132A= (p.Lys1711=) c.5123A= (p.Lys1708=) c.5084A= (p.Lys1695=) c.5030A= (p.Lys1677=) c.4934A= (p.Lys1645=) c.4904A= (p.Lys1635=) c.4829A= (p.Lys1610=) c.4727A= (p.Lys1576=) c.4358A= (p.Lys1453=) | |
| 5 | g.112840801A>C | CA16032712 | APC | c.5261A>C (p.Lys1754Thr) c.*5213A>C (n.*5213A>C) c.5153A>C (p.Lys1718Thr) c.5207A>C (p.Lys1736Thr) c.*4529A>C (n.*4529A>C) c.230+11829A>C c.5237A>C (p.Lys1746Thr) c.5132A>C (p.Lys1711Thr) c.5123A>C (p.Lys1708Thr) c.5084A>C (p.Lys1695Thr) c.5030A>C (p.Lys1677Thr) c.4934A>C (p.Lys1645Thr) c.4904A>C (p.Lys1635Thr) c.4829A>C (p.Lys1610Thr) c.4727A>C (p.Lys1576Thr) c.4358A>C (p.Lys1453Thr) | dbSNP gnomAD v4 |
| 5 | g.112840801A>G | CA335671 | APC | c.5261A>G (p.Lys1754Arg) c.*5213A>G (n.*5213A>G) c.5153A>G (p.Lys1718Arg) c.5207A>G (p.Lys1736Arg) c.*4529A>G (n.*4529A>G) c.230+11829A>G c.5237A>G (p.Lys1746Arg) c.5132A>G (p.Lys1711Arg) c.5123A>G (p.Lys1708Arg) c.5084A>G (p.Lys1695Arg) c.5030A>G (p.Lys1677Arg) c.4934A>G (p.Lys1645Arg) c.4904A>G (p.Lys1635Arg) c.4829A>G (p.Lys1610Arg) c.4727A>G (p.Lys1576Arg) c.4358A>G (p.Lys1453Arg) | ClinVar dbSNP |
| 5 | g.112840801A>T | CA16032713 | APC | c.5261A>T (p.Lys1754Ile) c.*5213A>T (n.*5213A>T) c.5153A>T (p.Lys1718Ile) c.5207A>T (p.Lys1736Ile) c.*4529A>T (n.*4529A>T) c.230+11829A>T c.5237A>T (p.Lys1746Ile) c.5132A>T (p.Lys1711Ile) c.5123A>T (p.Lys1708Ile) c.5084A>T (p.Lys1695Ile) c.5030A>T (p.Lys1677Ile) c.4934A>T (p.Lys1645Ile) c.4904A>T (p.Lys1635Ile) c.4829A>T (p.Lys1610Ile) c.4727A>T (p.Lys1576Ile) c.4358A>T (p.Lys1453Ile) | dbSNP |
| 5 | g.112840802A= | CA1573474725 | APC | c.5262A= (p.Lys1754=) c.*5214A= (n.*5214A=) c.5154A= (p.Lys1718=) c.5208A= (p.Lys1736=) c.*4530A= (n.*4530A=) c.230+11830A= c.5238A= (p.Lys1746=) c.5133A= (p.Lys1711=) c.5124A= (p.Lys1708=) c.5085A= (p.Lys1695=) c.5031A= (p.Lys1677=) c.4935A= (p.Lys1645=) c.4905A= (p.Lys1635=) c.4830A= (p.Lys1610=) c.4728A= (p.Lys1576=) c.4359A= (p.Lys1453=) | |
| 5 | g.112840802A>C | CA16032714 | APC | c.5262A>C (p.Lys1754Asn) c.*5214A>C (n.*5214A>C) c.5154A>C (p.Lys1718Asn) c.5208A>C (p.Lys1736Asn) c.*4530A>C (n.*4530A>C) c.230+11830A>C c.5238A>C (p.Lys1746Asn) c.5133A>C (p.Lys1711Asn) c.5124A>C (p.Lys1708Asn) c.5085A>C (p.Lys1695Asn) c.5031A>C (p.Lys1677Asn) c.4935A>C (p.Lys1645Asn) c.4905A>C (p.Lys1635Asn) c.4830A>C (p.Lys1610Asn) c.4728A>C (p.Lys1576Asn) c.4359A>C (p.Lys1453Asn) | ClinVar dbSNP |
| 5 | g.112840802A>G | CA040955 | APC | c.5262A>G (p.Lys1754=) c.*5214A>G (n.*5214A>G) c.5154A>G (p.Lys1718=) c.5208A>G (p.Lys1736=) c.*4530A>G (n.*4530A>G) c.230+11830A>G c.5238A>G (p.Lys1746=) c.5133A>G (p.Lys1711=) c.5124A>G (p.Lys1708=) c.5085A>G (p.Lys1695=) c.5031A>G (p.Lys1677=) c.4935A>G (p.Lys1645=) c.4905A>G (p.Lys1635=) c.4830A>G (p.Lys1610=) c.4728A>G (p.Lys1576=) c.4359A>G (p.Lys1453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112840802A>T | CA16032715 | APC | c.5262A>T (p.Lys1754Asn) c.*5214A>T (n.*5214A>T) c.5154A>T (p.Lys1718Asn) c.5208A>T (p.Lys1736Asn) c.*4530A>T (n.*4530A>T) c.230+11830A>T c.5238A>T (p.Lys1746Asn) c.5133A>T (p.Lys1711Asn) c.5124A>T (p.Lys1708Asn) c.5085A>T (p.Lys1695Asn) c.5031A>T (p.Lys1677Asn) c.4935A>T (p.Lys1645Asn) c.4905A>T (p.Lys1635Asn) c.4830A>T (p.Lys1610Asn) c.4728A>T (p.Lys1576Asn) c.4359A>T (p.Lys1453Asn) | dbSNP |