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.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.112840828_112841134delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC | CA1573474922 | APC | c.5288_5594delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1763=) c.*5240_*5546delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (n.*5240_*5546delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC) c.5180_5486delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1727=) c.5234_5540delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1745=) c.*4556_*4862delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (n.*4556_*4862delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC) c.230+11856_230+12162delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC c.5264_5570delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1755=) c.5159_5465delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1720=) c.5150_5456delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1717=) c.5111_5417delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1704=) c.5057_5363delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1686=) c.4961_5267delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1654=) c.4931_5237delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1644=) c.4856_5162delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1619=) c.4754_5060delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1585=) c.4385_4691delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1462=) | |
| 5 | g.112840830_112841135del | CA1139659018 | APC | c.5290_5595del (p.Ile1764_Thr1865del) c.*5242_*5547del (n.*5242_*5547del) c.5182_5487del (p.Ile1728_Thr1829del) c.5236_5541del (p.Ile1746_Thr1847del) c.*4558_*4863del (n.*4558_*4863del) c.230+11858_230+12163del c.5266_5571del (p.Ile1756_Thr1857del) c.5161_5466del (p.Ile1721_Thr1822del) c.5152_5457del (p.Ile1718_Thr1819del) c.5113_5418del (p.Ile1705_Thr1806del) c.5059_5364del (p.Ile1687_Thr1788del) c.4963_5268del (p.Ile1655_Thr1756del) c.4933_5238del (p.Ile1645_Thr1746del) c.4858_5163del (p.Ile1620_Thr1721del) c.4756_5061del (p.Ile1586_Thr1687del) c.4387_4692del (p.Ile1463_Thr1564del) | ClinVar dbSNP |
| 5 | g.112840891A= | CA1573475403 | APC | c.5351A= (p.Asp1784=) c.*5303A= (n.*5303A=) c.5243A= (p.Asp1748=) c.5297A= (p.Asp1766=) c.*4619A= (n.*4619A=) c.230+11919A= c.5327A= (p.Asp1776=) c.5222A= (p.Asp1741=) c.5213A= (p.Asp1738=) c.5174A= (p.Asp1725=) c.5120A= (p.Asp1707=) c.5024A= (p.Asp1675=) c.4994A= (p.Asp1665=) c.4919A= (p.Asp1640=) c.4817A= (p.Asp1606=) c.4448A= (p.Asp1483=) | |
| 5 | g.112840891A>C | CA16032910 | APC | c.5351A>C (p.Asp1784Ala) c.*5303A>C (n.*5303A>C) c.5243A>C (p.Asp1748Ala) c.5297A>C (p.Asp1766Ala) c.*4619A>C (n.*4619A>C) c.230+11919A>C c.5327A>C (p.Asp1776Ala) c.5222A>C (p.Asp1741Ala) c.5213A>C (p.Asp1738Ala) c.5174A>C (p.Asp1725Ala) c.5120A>C (p.Asp1707Ala) c.5024A>C (p.Asp1675Ala) c.4994A>C (p.Asp1665Ala) c.4919A>C (p.Asp1640Ala) c.4817A>C (p.Asp1606Ala) c.4448A>C (p.Asp1483Ala) | |
| 5 | g.112840891A>G | CA16032911 | APC | c.5351A>G (p.Asp1784Gly) c.*5303A>G (n.*5303A>G) c.5243A>G (p.Asp1748Gly) c.5297A>G (p.Asp1766Gly) c.*4619A>G (n.*4619A>G) c.230+11919A>G c.5327A>G (p.Asp1776Gly) c.5222A>G (p.Asp1741Gly) c.5213A>G (p.Asp1738Gly) c.5174A>G (p.Asp1725Gly) c.5120A>G (p.Asp1707Gly) c.5024A>G (p.Asp1675Gly) c.4994A>G (p.Asp1665Gly) c.4919A>G (p.Asp1640Gly) c.4817A>G (p.Asp1606Gly) c.4448A>G (p.Asp1483Gly) | ClinVar dbSNP COSMIC |
| 5 | g.112840891A>T | CA16032912 | APC | c.5351A>T (p.Asp1784Val) c.*5303A>T (n.*5303A>T) c.5243A>T (p.Asp1748Val) c.5297A>T (p.Asp1766Val) c.*4619A>T (n.*4619A>T) c.230+11919A>T c.5327A>T (p.Asp1776Val) c.5222A>T (p.Asp1741Val) c.5213A>T (p.Asp1738Val) c.5174A>T (p.Asp1725Val) c.5120A>T (p.Asp1707Val) c.5024A>T (p.Asp1675Val) c.4994A>T (p.Asp1665Val) c.4919A>T (p.Asp1640Val) c.4817A>T (p.Asp1606Val) c.4448A>T (p.Asp1483Val) | dbSNP gnomAD v4 |
| 5 | g.112840892T>A | CA16032913 | APC | c.5352T>A (p.Asp1784Glu) c.*5304T>A (n.*5304T>A) c.5244T>A (p.Asp1748Glu) c.5298T>A (p.Asp1766Glu) c.*4620T>A (n.*4620T>A) c.230+11920T>A c.5328T>A (p.Asp1776Glu) c.5223T>A (p.Asp1741Glu) c.5214T>A (p.Asp1738Glu) c.5175T>A (p.Asp1725Glu) c.5121T>A (p.Asp1707Glu) c.5025T>A (p.Asp1675Glu) c.4995T>A (p.Asp1665Glu) c.4920T>A (p.Asp1640Glu) c.4818T>A (p.Asp1606Glu) c.4449T>A (p.Asp1483Glu) | |
| 5 | g.112840892T>C | CA041274 | APC | c.5352T>C (p.Asp1784=) c.*5304T>C (n.*5304T>C) c.5244T>C (p.Asp1748=) c.5298T>C (p.Asp1766=) c.*4620T>C (n.*4620T>C) c.230+11920T>C c.5328T>C (p.Asp1776=) c.5223T>C (p.Asp1741=) c.5214T>C (p.Asp1738=) c.5175T>C (p.Asp1725=) c.5121T>C (p.Asp1707=) c.5025T>C (p.Asp1675=) c.4995T>C (p.Asp1665=) c.4920T>C (p.Asp1640=) c.4818T>C (p.Asp1606=) c.4449T>C (p.Asp1483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840892T>G | CA16032914 | APC | c.5352T>G (p.Asp1784Glu) c.*5304T>G (n.*5304T>G) c.5244T>G (p.Asp1748Glu) c.5298T>G (p.Asp1766Glu) c.*4620T>G (n.*4620T>G) c.230+11920T>G c.5328T>G (p.Asp1776Glu) c.5223T>G (p.Asp1741Glu) c.5214T>G (p.Asp1738Glu) c.5175T>G (p.Asp1725Glu) c.5121T>G (p.Asp1707Glu) c.5025T>G (p.Asp1675Glu) c.4995T>G (p.Asp1665Glu) c.4920T>G (p.Asp1640Glu) c.4818T>G (p.Asp1606Glu) c.4449T>G (p.Asp1483Glu) | |
| 5 | g.112840892T= | CA1573475405 | APC | c.5352T= (p.Asp1784=) c.*5304T= (n.*5304T=) c.5244T= (p.Asp1748=) c.5298T= (p.Asp1766=) c.*4620T= (n.*4620T=) c.230+11920T= c.5328T= (p.Asp1776=) c.5223T= (p.Asp1741=) c.5214T= (p.Asp1738=) c.5175T= (p.Asp1725=) c.5121T= (p.Asp1707=) c.5025T= (p.Asp1675=) c.4995T= (p.Asp1665=) c.4920T= (p.Asp1640=) c.4818T= (p.Asp1606=) c.4449T= (p.Asp1483=) | |
| 5 | g.112840893G>A | CA16032915 | APC | c.5353G>A (p.Gly1785Ser) c.*5305G>A (n.*5305G>A) c.5245G>A (p.Gly1749Ser) c.5299G>A (p.Gly1767Ser) c.*4621G>A (n.*4621G>A) c.230+11921G>A c.5329G>A (p.Gly1777Ser) c.5224G>A (p.Gly1742Ser) c.5215G>A (p.Gly1739Ser) c.5176G>A (p.Gly1726Ser) c.5122G>A (p.Gly1708Ser) c.5026G>A (p.Gly1676Ser) c.4996G>A (p.Gly1666Ser) c.4921G>A (p.Gly1641Ser) c.4819G>A (p.Gly1607Ser) c.4450G>A (p.Gly1484Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840893G>C | CA16032916 | APC | c.5353G>C (p.Gly1785Arg) c.*5305G>C (n.*5305G>C) c.5245G>C (p.Gly1749Arg) c.5299G>C (p.Gly1767Arg) c.*4621G>C (n.*4621G>C) c.230+11921G>C c.5329G>C (p.Gly1777Arg) c.5224G>C (p.Gly1742Arg) c.5215G>C (p.Gly1739Arg) c.5176G>C (p.Gly1726Arg) c.5122G>C (p.Gly1708Arg) c.5026G>C (p.Gly1676Arg) c.4996G>C (p.Gly1666Arg) c.4921G>C (p.Gly1641Arg) c.4819G>C (p.Gly1607Arg) c.4450G>C (p.Gly1484Arg) | ClinVar dbSNP |
| 5 | g.112840893G= | CA1573475423 | APC | c.5353G= (p.Gly1785=) c.*5305G= (n.*5305G=) c.5245G= (p.Gly1749=) c.5299G= (p.Gly1767=) c.*4621G= (n.*4621G=) c.230+11921G= c.5329G= (p.Gly1777=) c.5224G= (p.Gly1742=) c.5215G= (p.Gly1739=) c.5176G= (p.Gly1726=) c.5122G= (p.Gly1708=) c.5026G= (p.Gly1676=) c.4996G= (p.Gly1666=) c.4921G= (p.Gly1641=) c.4819G= (p.Gly1607=) c.4450G= (p.Gly1484=) | |
| 5 | g.112840893G>T | CA16032917 | APC | c.5353G>T (p.Gly1785Cys) c.*5305G>T (n.*5305G>T) c.5245G>T (p.Gly1749Cys) c.5299G>T (p.Gly1767Cys) c.*4621G>T (n.*4621G>T) c.230+11921G>T c.5329G>T (p.Gly1777Cys) c.5224G>T (p.Gly1742Cys) c.5215G>T (p.Gly1739Cys) c.5176G>T (p.Gly1726Cys) c.5122G>T (p.Gly1708Cys) c.5026G>T (p.Gly1676Cys) c.4996G>T (p.Gly1666Cys) c.4921G>T (p.Gly1641Cys) c.4819G>T (p.Gly1607Cys) c.4450G>T (p.Gly1484Cys) | ClinVar dbSNP |
| 5 | g.112840894G>A | CA16032918 | APC | c.5354G>A (p.Gly1785Asp) c.*5306G>A (n.*5306G>A) c.5246G>A (p.Gly1749Asp) c.5300G>A (p.Gly1767Asp) c.*4622G>A (n.*4622G>A) c.230+11922G>A c.5330G>A (p.Gly1777Asp) c.5225G>A (p.Gly1742Asp) c.5216G>A (p.Gly1739Asp) c.5177G>A (p.Gly1726Asp) c.5123G>A (p.Gly1708Asp) c.5027G>A (p.Gly1676Asp) c.4997G>A (p.Gly1666Asp) c.4922G>A (p.Gly1641Asp) c.4820G>A (p.Gly1607Asp) c.4451G>A (p.Gly1484Asp) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840894G>C | CA16032919 | APC | c.5354G>C (p.Gly1785Ala) c.*5306G>C (n.*5306G>C) c.5246G>C (p.Gly1749Ala) c.5300G>C (p.Gly1767Ala) c.*4622G>C (n.*4622G>C) c.230+11922G>C c.5330G>C (p.Gly1777Ala) c.5225G>C (p.Gly1742Ala) c.5216G>C (p.Gly1739Ala) c.5177G>C (p.Gly1726Ala) c.5123G>C (p.Gly1708Ala) c.5027G>C (p.Gly1676Ala) c.4997G>C (p.Gly1666Ala) c.4922G>C (p.Gly1641Ala) c.4820G>C (p.Gly1607Ala) c.4451G>C (p.Gly1484Ala) | ClinVar dbSNP |
| 5 | g.112840894G= | CA1573475428 | APC | c.5354G= (p.Gly1785=) c.*5306G= (n.*5306G=) c.5246G= (p.Gly1749=) c.5300G= (p.Gly1767=) c.*4622G= (n.*4622G=) c.230+11922G= c.5330G= (p.Gly1777=) c.5225G= (p.Gly1742=) c.5216G= (p.Gly1739=) c.5177G= (p.Gly1726=) c.5123G= (p.Gly1708=) c.5027G= (p.Gly1676=) c.4997G= (p.Gly1666=) c.4922G= (p.Gly1641=) c.4820G= (p.Gly1607=) c.4451G= (p.Gly1484=) | |
| 5 | g.112840894G>T | CA16032920 | APC | c.5354G>T (p.Gly1785Val) c.*5306G>T (n.*5306G>T) c.5246G>T (p.Gly1749Val) c.5300G>T (p.Gly1767Val) c.*4622G>T (n.*4622G>T) c.230+11922G>T c.5330G>T (p.Gly1777Val) c.5225G>T (p.Gly1742Val) c.5216G>T (p.Gly1739Val) c.5177G>T (p.Gly1726Val) c.5123G>T (p.Gly1708Val) c.5027G>T (p.Gly1676Val) c.4997G>T (p.Gly1666Val) c.4922G>T (p.Gly1641Val) c.4820G>T (p.Gly1607Val) c.4451G>T (p.Gly1484Val) | ClinVar dbSNP |
| 5 | g.112840904_112840968del | CA2582341429 | APC | c.5364_5428del (p.Lys1789CysfsTer6) c.*5316_*5380del (n.*5316_*5380del) c.5256_5320del (p.Lys1753CysfsTer6) c.5310_5374del (p.Lys1771CysfsTer6) c.*4632_*4696del (n.*4632_*4696del) c.230+11932_230+11996del c.5340_5404del (p.Lys1781CysfsTer6) c.5235_5299del (p.Lys1746CysfsTer6) c.5226_5290del (p.Lys1743CysfsTer6) c.5187_5251del (p.Lys1730CysfsTer6) c.5133_5197del (p.Lys1712CysfsTer6) c.5037_5101del (p.Lys1680CysfsTer6) c.5007_5071del (p.Lys1670CysfsTer6) c.4932_4996del (p.Lys1645CysfsTer6) c.4830_4894del (p.Lys1611CysfsTer6) c.4461_4525del (p.Lys1488CysfsTer6) | ClinVar |
| 5 | g.112840895T>A | CA446208779 | APC | c.5355T>A (p.Gly1785=) c.*5307T>A (n.*5307T>A) c.5247T>A (p.Gly1749=) c.5301T>A (p.Gly1767=) c.*4623T>A (n.*4623T>A) c.230+11923T>A c.5331T>A (p.Gly1777=) c.5226T>A (p.Gly1742=) c.5217T>A (p.Gly1739=) c.5178T>A (p.Gly1726=) c.5124T>A (p.Gly1708=) c.5028T>A (p.Gly1676=) c.4998T>A (p.Gly1666=) c.4923T>A (p.Gly1641=) c.4821T>A (p.Gly1607=) c.4452T>A (p.Gly1484=) | |
| 5 | g.112840895T>C | CA446208780 | APC | c.5355T>C (p.Gly1785=) c.*5307T>C (n.*5307T>C) c.5247T>C (p.Gly1749=) c.5301T>C (p.Gly1767=) c.*4623T>C (n.*4623T>C) c.230+11923T>C c.5331T>C (p.Gly1777=) c.5226T>C (p.Gly1742=) c.5217T>C (p.Gly1739=) c.5178T>C (p.Gly1726=) c.5124T>C (p.Gly1708=) c.5028T>C (p.Gly1676=) c.4998T>C (p.Gly1666=) c.4923T>C (p.Gly1641=) c.4821T>C (p.Gly1607=) c.4452T>C (p.Gly1484=) | |
| 5 | g.112840895T>G | CA446208781 | APC | c.5355T>G (p.Gly1785=) c.*5307T>G (n.*5307T>G) c.5247T>G (p.Gly1749=) c.5301T>G (p.Gly1767=) c.*4623T>G (n.*4623T>G) c.230+11923T>G c.5331T>G (p.Gly1777=) c.5226T>G (p.Gly1742=) c.5217T>G (p.Gly1739=) c.5178T>G (p.Gly1726=) c.5124T>G (p.Gly1708=) c.5028T>G (p.Gly1676=) c.4998T>G (p.Gly1666=) c.4923T>G (p.Gly1641=) c.4821T>G (p.Gly1607=) c.4452T>G (p.Gly1484=) | |
| 5 | g.112840896A= | CA1573475437 | APC | c.5356A= (p.Lys1786=) c.*5308A= (n.*5308A=) c.5248A= (p.Lys1750=) c.5302A= (p.Lys1768=) c.*4624A= (n.*4624A=) c.230+11924A= c.5332A= (p.Lys1778=) c.5227A= (p.Lys1743=) c.5218A= (p.Lys1740=) c.5179A= (p.Lys1727=) c.5125A= (p.Lys1709=) c.5029A= (p.Lys1677=) c.4999A= (p.Lys1667=) c.4924A= (p.Lys1642=) c.4822A= (p.Lys1608=) c.4453A= (p.Lys1485=) | |
| 5 | g.112840896A>C | CA16032921 | APC | c.5356A>C (p.Lys1786Gln) c.*5308A>C (n.*5308A>C) c.5248A>C (p.Lys1750Gln) c.5302A>C (p.Lys1768Gln) c.*4624A>C (n.*4624A>C) c.230+11924A>C c.5332A>C (p.Lys1778Gln) c.5227A>C (p.Lys1743Gln) c.5218A>C (p.Lys1740Gln) c.5179A>C (p.Lys1727Gln) c.5125A>C (p.Lys1709Gln) c.5029A>C (p.Lys1677Gln) c.4999A>C (p.Lys1667Gln) c.4924A>C (p.Lys1642Gln) c.4822A>C (p.Lys1608Gln) c.4453A>C (p.Lys1485Gln) | |
| 5 | g.112840896A>G | CA010041 | APC | c.5356A>G (p.Lys1786Glu) c.*5308A>G (n.*5308A>G) c.5248A>G (p.Lys1750Glu) c.5302A>G (p.Lys1768Glu) c.*4624A>G (n.*4624A>G) c.230+11924A>G c.5332A>G (p.Lys1778Glu) c.5227A>G (p.Lys1743Glu) c.5218A>G (p.Lys1740Glu) c.5179A>G (p.Lys1727Glu) c.5125A>G (p.Lys1709Glu) c.5029A>G (p.Lys1677Glu) c.4999A>G (p.Lys1667Glu) c.4924A>G (p.Lys1642Glu) c.4822A>G (p.Lys1608Glu) c.4453A>G (p.Lys1485Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840896A>T | CA16032922 | APC | c.5356A>T (p.Lys1786Ter) c.*5308A>T (n.*5308A>T) c.5248A>T (p.Lys1750Ter) c.5302A>T (p.Lys1768Ter) c.*4624A>T (n.*4624A>T) c.230+11924A>T c.5332A>T (p.Lys1778Ter) c.5227A>T (p.Lys1743Ter) c.5218A>T (p.Lys1740Ter) c.5179A>T (p.Lys1727Ter) c.5125A>T (p.Lys1709Ter) c.5029A>T (p.Lys1677Ter) c.4999A>T (p.Lys1667Ter) c.4924A>T (p.Lys1642Ter) c.4822A>T (p.Lys1608Ter) c.4453A>T (p.Lys1485Ter) | dbSNP |
| 5 | g.112840897A>C | CA16032923 | APC | c.5357A>C (p.Lys1786Thr) c.*5309A>C (n.*5309A>C) c.5249A>C (p.Lys1750Thr) c.5303A>C (p.Lys1768Thr) c.*4625A>C (n.*4625A>C) c.230+11925A>C c.5333A>C (p.Lys1778Thr) c.5228A>C (p.Lys1743Thr) c.5219A>C (p.Lys1740Thr) c.5180A>C (p.Lys1727Thr) c.5126A>C (p.Lys1709Thr) c.5030A>C (p.Lys1677Thr) c.5000A>C (p.Lys1667Thr) c.4925A>C (p.Lys1642Thr) c.4823A>C (p.Lys1608Thr) c.4454A>C (p.Lys1485Thr) | |
| 5 | g.112840897A>G | CA16032924 | APC | c.5357A>G (p.Lys1786Arg) c.*5309A>G (n.*5309A>G) c.5249A>G (p.Lys1750Arg) c.5303A>G (p.Lys1768Arg) c.*4625A>G (n.*4625A>G) c.230+11925A>G c.5333A>G (p.Lys1778Arg) c.5228A>G (p.Lys1743Arg) c.5219A>G (p.Lys1740Arg) c.5180A>G (p.Lys1727Arg) c.5126A>G (p.Lys1709Arg) c.5030A>G (p.Lys1677Arg) c.5000A>G (p.Lys1667Arg) c.4925A>G (p.Lys1642Arg) c.4823A>G (p.Lys1608Arg) c.4454A>G (p.Lys1485Arg) | dbSNP |
| 5 | g.112840897A>T | CA16032925 | APC | c.5357A>T (p.Lys1786Met) c.*5309A>T (n.*5309A>T) c.5249A>T (p.Lys1750Met) c.5303A>T (p.Lys1768Met) c.*4625A>T (n.*4625A>T) c.230+11925A>T c.5333A>T (p.Lys1778Met) c.5228A>T (p.Lys1743Met) c.5219A>T (p.Lys1740Met) c.5180A>T (p.Lys1727Met) c.5126A>T (p.Lys1709Met) c.5030A>T (p.Lys1677Met) c.5000A>T (p.Lys1667Met) c.4925A>T (p.Lys1642Met) c.4823A>T (p.Lys1608Met) c.4454A>T (p.Lys1485Met) | dbSNP |
| 5 | g.112840898G>A | CA339368 | APC | c.5358G>A (p.Lys1786=) c.*5310G>A (n.*5310G>A) c.5250G>A (p.Lys1750=) c.5304G>A (p.Lys1768=) c.*4626G>A (n.*4626G>A) c.230+11926G>A c.5334G>A (p.Lys1778=) c.5229G>A (p.Lys1743=) c.5220G>A (p.Lys1740=) c.5181G>A (p.Lys1727=) c.5127G>A (p.Lys1709=) c.5031G>A (p.Lys1677=) c.5001G>A (p.Lys1667=) c.4926G>A (p.Lys1642=) c.4824G>A (p.Lys1608=) c.4455G>A (p.Lys1485=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840898G>C | CA16032926 | APC | c.5358G>C (p.Lys1786Asn) c.*5310G>C (n.*5310G>C) c.5250G>C (p.Lys1750Asn) c.5304G>C (p.Lys1768Asn) c.*4626G>C (n.*4626G>C) c.230+11926G>C c.5334G>C (p.Lys1778Asn) c.5229G>C (p.Lys1743Asn) c.5220G>C (p.Lys1740Asn) c.5181G>C (p.Lys1727Asn) c.5127G>C (p.Lys1709Asn) c.5031G>C (p.Lys1677Asn) c.5001G>C (p.Lys1667Asn) c.4926G>C (p.Lys1642Asn) c.4824G>C (p.Lys1608Asn) c.4455G>C (p.Lys1485Asn) | ClinVar dbSNP |
| 5 | g.112840898G= | CA1573475458 | APC | c.5358G= (p.Lys1786=) c.*5310G= (n.*5310G=) c.5250G= (p.Lys1750=) c.5304G= (p.Lys1768=) c.*4626G= (n.*4626G=) c.230+11926G= c.5334G= (p.Lys1778=) c.5229G= (p.Lys1743=) c.5220G= (p.Lys1740=) c.5181G= (p.Lys1727=) c.5127G= (p.Lys1709=) c.5031G= (p.Lys1677=) c.5001G= (p.Lys1667=) c.4926G= (p.Lys1642=) c.4824G= (p.Lys1608=) c.4455G= (p.Lys1485=) | |
| 5 | g.112840898G>T | CA16032927 | APC | c.5358G>T (p.Lys1786Asn) c.*5310G>T (n.*5310G>T) c.5250G>T (p.Lys1750Asn) c.5304G>T (p.Lys1768Asn) c.*4626G>T (n.*4626G>T) c.230+11926G>T c.5334G>T (p.Lys1778Asn) c.5229G>T (p.Lys1743Asn) c.5220G>T (p.Lys1740Asn) c.5181G>T (p.Lys1727Asn) c.5127G>T (p.Lys1709Asn) c.5031G>T (p.Lys1677Asn) c.5001G>T (p.Lys1667Asn) c.4926G>T (p.Lys1642Asn) c.4824G>T (p.Lys1608Asn) c.4455G>T (p.Lys1485Asn) | |
| 5 | g.112840899A= | CA1573475483 | APC | c.5359A= (p.Lys1787=) c.*5311A= (n.*5311A=) c.5251A= (p.Lys1751=) c.5305A= (p.Lys1769=) c.*4627A= (n.*4627A=) c.230+11927A= c.5335A= (p.Lys1779=) c.5230A= (p.Lys1744=) c.5221A= (p.Lys1741=) c.5182A= (p.Lys1728=) c.5128A= (p.Lys1710=) c.5032A= (p.Lys1678=) c.5002A= (p.Lys1668=) c.4927A= (p.Lys1643=) c.4825A= (p.Lys1609=) c.4456A= (p.Lys1486=) | |
| 5 | g.112840899A>C | CA16032928 | APC | c.5359A>C (p.Lys1787Gln) c.*5311A>C (n.*5311A>C) c.5251A>C (p.Lys1751Gln) c.5305A>C (p.Lys1769Gln) c.*4627A>C (n.*4627A>C) c.230+11927A>C c.5335A>C (p.Lys1779Gln) c.5230A>C (p.Lys1744Gln) c.5221A>C (p.Lys1741Gln) c.5182A>C (p.Lys1728Gln) c.5128A>C (p.Lys1710Gln) c.5032A>C (p.Lys1678Gln) c.5002A>C (p.Lys1668Gln) c.4927A>C (p.Lys1643Gln) c.4825A>C (p.Lys1609Gln) c.4456A>C (p.Lys1486Gln) | ClinVar |
| 5 | g.112840899A>G | CA16032929 | APC | c.5359A>G (p.Lys1787Glu) c.*5311A>G (n.*5311A>G) c.5251A>G (p.Lys1751Glu) c.5305A>G (p.Lys1769Glu) c.*4627A>G (n.*4627A>G) c.230+11927A>G c.5335A>G (p.Lys1779Glu) c.5230A>G (p.Lys1744Glu) c.5221A>G (p.Lys1741Glu) c.5182A>G (p.Lys1728Glu) c.5128A>G (p.Lys1710Glu) c.5032A>G (p.Lys1678Glu) c.5002A>G (p.Lys1668Glu) c.4927A>G (p.Lys1643Glu) c.4825A>G (p.Lys1609Glu) c.4456A>G (p.Lys1486Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112840899A>T | CA16032930 | APC | c.5359A>T (p.Lys1787Ter) c.*5311A>T (n.*5311A>T) c.5251A>T (p.Lys1751Ter) c.5305A>T (p.Lys1769Ter) c.*4627A>T (n.*4627A>T) c.230+11927A>T c.5335A>T (p.Lys1779Ter) c.5230A>T (p.Lys1744Ter) c.5221A>T (p.Lys1741Ter) c.5182A>T (p.Lys1728Ter) c.5128A>T (p.Lys1710Ter) c.5032A>T (p.Lys1678Ter) c.5002A>T (p.Lys1668Ter) c.4927A>T (p.Lys1643Ter) c.4825A>T (p.Lys1609Ter) c.4456A>T (p.Lys1486Ter) | dbSNP |
| 5 | g.112840900A>C | CA16032931 | APC | c.5360A>C (p.Lys1787Thr) c.*5312A>C (n.*5312A>C) c.5252A>C (p.Lys1751Thr) c.5306A>C (p.Lys1769Thr) c.*4628A>C (n.*4628A>C) c.230+11928A>C c.5336A>C (p.Lys1779Thr) c.5231A>C (p.Lys1744Thr) c.5222A>C (p.Lys1741Thr) c.5183A>C (p.Lys1728Thr) c.5129A>C (p.Lys1710Thr) c.5033A>C (p.Lys1678Thr) c.5003A>C (p.Lys1668Thr) c.4928A>C (p.Lys1643Thr) c.4826A>C (p.Lys1609Thr) c.4457A>C (p.Lys1486Thr) | |
| 5 | g.112840900A>G | CA16032932 | APC | c.5360A>G (p.Lys1787Arg) c.*5312A>G (n.*5312A>G) c.5252A>G (p.Lys1751Arg) c.5306A>G (p.Lys1769Arg) c.*4628A>G (n.*4628A>G) c.230+11928A>G c.5336A>G (p.Lys1779Arg) c.5231A>G (p.Lys1744Arg) c.5222A>G (p.Lys1741Arg) c.5183A>G (p.Lys1728Arg) c.5129A>G (p.Lys1710Arg) c.5033A>G (p.Lys1678Arg) c.5003A>G (p.Lys1668Arg) c.4928A>G (p.Lys1643Arg) c.4826A>G (p.Lys1609Arg) c.4457A>G (p.Lys1486Arg) | dbSNP |
| 5 | g.112840900A>T | CA16032933 | APC | c.5360A>T (p.Lys1787Ile) c.*5312A>T (n.*5312A>T) c.5252A>T (p.Lys1751Ile) c.5306A>T (p.Lys1769Ile) c.*4628A>T (n.*4628A>T) c.230+11928A>T c.5336A>T (p.Lys1779Ile) c.5231A>T (p.Lys1744Ile) c.5222A>T (p.Lys1741Ile) c.5183A>T (p.Lys1728Ile) c.5129A>T (p.Lys1710Ile) c.5033A>T (p.Lys1678Ile) c.5003A>T (p.Lys1668Ile) c.4928A>T (p.Lys1643Ile) c.4826A>T (p.Lys1609Ile) c.4457A>T (p.Lys1486Ile) | |
| 5 | g.112840901A>C | CA16032934 | APC | c.5361A>C (p.Lys1787Asn) c.*5313A>C (n.*5313A>C) c.5253A>C (p.Lys1751Asn) c.5307A>C (p.Lys1769Asn) c.*4629A>C (n.*4629A>C) c.230+11929A>C c.5337A>C (p.Lys1779Asn) c.5232A>C (p.Lys1744Asn) c.5223A>C (p.Lys1741Asn) c.5184A>C (p.Lys1728Asn) c.5130A>C (p.Lys1710Asn) c.5034A>C (p.Lys1678Asn) c.5004A>C (p.Lys1668Asn) c.4929A>C (p.Lys1643Asn) c.4827A>C (p.Lys1609Asn) c.4458A>C (p.Lys1486Asn) | |
| 5 | g.112840901A>G | CA446208782 | APC | c.5361A>G (p.Lys1787=) c.*5313A>G (n.*5313A>G) c.5253A>G (p.Lys1751=) c.5307A>G (p.Lys1769=) c.*4629A>G (n.*4629A>G) c.230+11929A>G c.5337A>G (p.Lys1779=) c.5232A>G (p.Lys1744=) c.5223A>G (p.Lys1741=) c.5184A>G (p.Lys1728=) c.5130A>G (p.Lys1710=) c.5034A>G (p.Lys1678=) c.5004A>G (p.Lys1668=) c.4929A>G (p.Lys1643=) c.4827A>G (p.Lys1609=) c.4458A>G (p.Lys1486=) | gnomAD v4 |
| 5 | g.112840901A>T | CA16032935 | APC | c.5361A>T (p.Lys1787Asn) c.*5313A>T (n.*5313A>T) c.5253A>T (p.Lys1751Asn) c.5307A>T (p.Lys1769Asn) c.*4629A>T (n.*4629A>T) c.230+11929A>T c.5337A>T (p.Lys1779Asn) c.5232A>T (p.Lys1744Asn) c.5223A>T (p.Lys1741Asn) c.5184A>T (p.Lys1728Asn) c.5130A>T (p.Lys1710Asn) c.5034A>T (p.Lys1678Asn) c.5004A>T (p.Lys1668Asn) c.4929A>T (p.Lys1643Asn) c.4827A>T (p.Lys1609Asn) c.4458A>T (p.Lys1486Asn) | dbSNP |
| 5 | g.112840902A= | CA1573475495 | APC | c.5362A= (p.Lys1788=) c.*5314A= (n.*5314A=) c.5254A= (p.Lys1752=) c.5308A= (p.Lys1770=) c.*4630A= (n.*4630A=) c.230+11930A= c.5338A= (p.Lys1780=) c.5233A= (p.Lys1745=) c.5224A= (p.Lys1742=) c.5185A= (p.Lys1729=) c.5131A= (p.Lys1711=) c.5035A= (p.Lys1679=) c.5005A= (p.Lys1669=) c.4930A= (p.Lys1644=) c.4828A= (p.Lys1610=) c.4459A= (p.Lys1487=) | |
| 5 | g.112840902A>C | CA16032936 | APC | c.5362A>C (p.Lys1788Gln) c.*5314A>C (n.*5314A>C) c.5254A>C (p.Lys1752Gln) c.5308A>C (p.Lys1770Gln) c.*4630A>C (n.*4630A>C) c.230+11930A>C c.5338A>C (p.Lys1780Gln) c.5233A>C (p.Lys1745Gln) c.5224A>C (p.Lys1742Gln) c.5185A>C (p.Lys1729Gln) c.5131A>C (p.Lys1711Gln) c.5035A>C (p.Lys1679Gln) c.5005A>C (p.Lys1669Gln) c.4930A>C (p.Lys1644Gln) c.4828A>C (p.Lys1610Gln) c.4459A>C (p.Lys1487Gln) | |
| 5 | g.112840902A>G | CA041323 | APC | c.5362A>G (p.Lys1788Glu) c.*5314A>G (n.*5314A>G) c.5254A>G (p.Lys1752Glu) c.5308A>G (p.Lys1770Glu) c.*4630A>G (n.*4630A>G) c.230+11930A>G c.5338A>G (p.Lys1780Glu) c.5233A>G (p.Lys1745Glu) c.5224A>G (p.Lys1742Glu) c.5185A>G (p.Lys1729Glu) c.5131A>G (p.Lys1711Glu) c.5035A>G (p.Lys1679Glu) c.5005A>G (p.Lys1669Glu) c.4930A>G (p.Lys1644Glu) c.4828A>G (p.Lys1610Glu) c.4459A>G (p.Lys1487Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840902A>T | CA16032937 | APC | c.5362A>T (p.Lys1788Ter) c.*5314A>T (n.*5314A>T) c.5254A>T (p.Lys1752Ter) c.5308A>T (p.Lys1770Ter) c.*4630A>T (n.*4630A>T) c.230+11930A>T c.5338A>T (p.Lys1780Ter) c.5233A>T (p.Lys1745Ter) c.5224A>T (p.Lys1742Ter) c.5185A>T (p.Lys1729Ter) c.5131A>T (p.Lys1711Ter) c.5035A>T (p.Lys1679Ter) c.5005A>T (p.Lys1669Ter) c.4930A>T (p.Lys1644Ter) c.4828A>T (p.Lys1610Ter) c.4459A>T (p.Lys1487Ter) | dbSNP |
| 5 | g.112840903A= | CA1573475499 | APC | c.5363A= (p.Lys1788=) c.*5315A= (n.*5315A=) c.5255A= (p.Lys1752=) c.5309A= (p.Lys1770=) c.*4631A= (n.*4631A=) c.230+11931A= c.5339A= (p.Lys1780=) c.5234A= (p.Lys1745=) c.5225A= (p.Lys1742=) c.5186A= (p.Lys1729=) c.5132A= (p.Lys1711=) c.5036A= (p.Lys1679=) c.5006A= (p.Lys1669=) c.4931A= (p.Lys1644=) c.4829A= (p.Lys1610=) c.4460A= (p.Lys1487=) |