UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.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.112840992A>C | CA16033130 | APC | c.5452A>C (p.Asn1818His) c.*5404A>C (n.*5404A>C) c.5344A>C (p.Asn1782His) c.5398A>C (p.Asn1800His) c.*4720A>C (n.*4720A>C) c.230+12020A>C c.5428A>C (p.Asn1810His) c.5323A>C (p.Asn1775His) c.5314A>C (p.Asn1772His) c.5275A>C (p.Asn1759His) c.5221A>C (p.Asn1741His) c.5125A>C (p.Asn1709His) c.5095A>C (p.Asn1699His) c.5020A>C (p.Asn1674His) c.4918A>C (p.Asn1640His) c.4549A>C (p.Asn1517His) | |
| 5 | g.112840992A>G | CA16033131 | APC | c.5452A>G (p.Asn1818Asp) c.*5404A>G (n.*5404A>G) c.5344A>G (p.Asn1782Asp) c.5398A>G (p.Asn1800Asp) c.*4720A>G (n.*4720A>G) c.230+12020A>G c.5428A>G (p.Asn1810Asp) c.5323A>G (p.Asn1775Asp) c.5314A>G (p.Asn1772Asp) c.5275A>G (p.Asn1759Asp) c.5221A>G (p.Asn1741Asp) c.5125A>G (p.Asn1709Asp) c.5095A>G (p.Asn1699Asp) c.5020A>G (p.Asn1674Asp) c.4918A>G (p.Asn1640Asp) c.4549A>G (p.Asn1517Asp) | dbSNP |
| 5 | g.112840992A>T | CA16033132 | APC | c.5452A>T (p.Asn1818Tyr) c.*5404A>T (n.*5404A>T) c.5344A>T (p.Asn1782Tyr) c.5398A>T (p.Asn1800Tyr) c.*4720A>T (n.*4720A>T) c.230+12020A>T c.5428A>T (p.Asn1810Tyr) c.5323A>T (p.Asn1775Tyr) c.5314A>T (p.Asn1772Tyr) c.5275A>T (p.Asn1759Tyr) c.5221A>T (p.Asn1741Tyr) c.5125A>T (p.Asn1709Tyr) c.5095A>T (p.Asn1699Tyr) c.5020A>T (p.Asn1674Tyr) c.4918A>T (p.Asn1640Tyr) c.4549A>T (p.Asn1517Tyr) | dbSNP |
| 5 | g.112840993A= | CA1573476076 | APC | c.5453A= (p.Asn1818=) c.*5405A= (n.*5405A=) c.5345A= (p.Asn1782=) c.5399A= (p.Asn1800=) c.*4721A= (n.*4721A=) c.230+12021A= c.5429A= (p.Asn1810=) c.5324A= (p.Asn1775=) c.5315A= (p.Asn1772=) c.5276A= (p.Asn1759=) c.5222A= (p.Asn1741=) c.5126A= (p.Asn1709=) c.5096A= (p.Asn1699=) c.5021A= (p.Asn1674=) c.4919A= (p.Asn1640=) c.4550A= (p.Asn1517=) | |
| 5 | g.112840993A>C | CA16033133 | APC | c.5453A>C (p.Asn1818Thr) c.*5405A>C (n.*5405A>C) c.5345A>C (p.Asn1782Thr) c.5399A>C (p.Asn1800Thr) c.*4721A>C (n.*4721A>C) c.230+12021A>C c.5429A>C (p.Asn1810Thr) c.5324A>C (p.Asn1775Thr) c.5315A>C (p.Asn1772Thr) c.5276A>C (p.Asn1759Thr) c.5222A>C (p.Asn1741Thr) c.5126A>C (p.Asn1709Thr) c.5096A>C (p.Asn1699Thr) c.5021A>C (p.Asn1674Thr) c.4919A>C (p.Asn1640Thr) c.4550A>C (p.Asn1517Thr) | ClinVar dbSNP |
| 5 | g.112840993A>G | CA10578402 | APC | c.5453A>G (p.Asn1818Ser) c.*5405A>G (n.*5405A>G) c.5345A>G (p.Asn1782Ser) c.5399A>G (p.Asn1800Ser) c.*4721A>G (n.*4721A>G) c.230+12021A>G c.5429A>G (p.Asn1810Ser) c.5324A>G (p.Asn1775Ser) c.5315A>G (p.Asn1772Ser) c.5276A>G (p.Asn1759Ser) c.5222A>G (p.Asn1741Ser) c.5126A>G (p.Asn1709Ser) c.5096A>G (p.Asn1699Ser) c.5021A>G (p.Asn1674Ser) c.4919A>G (p.Asn1640Ser) c.4550A>G (p.Asn1517Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840993A>T | CA16033134 | APC | c.5453A>T (p.Asn1818Ile) c.*5405A>T (n.*5405A>T) c.5345A>T (p.Asn1782Ile) c.5399A>T (p.Asn1800Ile) c.*4721A>T (n.*4721A>T) c.230+12021A>T c.5429A>T (p.Asn1810Ile) c.5324A>T (p.Asn1775Ile) c.5315A>T (p.Asn1772Ile) c.5276A>T (p.Asn1759Ile) c.5222A>T (p.Asn1741Ile) c.5126A>T (p.Asn1709Ile) c.5096A>T (p.Asn1699Ile) c.5021A>T (p.Asn1674Ile) c.4919A>T (p.Asn1640Ile) c.4550A>T (p.Asn1517Ile) | |
| 5 | g.112840994T>A | CA16033135 | APC | c.5454T>A (p.Asn1818Lys) c.*5406T>A (n.*5406T>A) c.5346T>A (p.Asn1782Lys) c.5400T>A (p.Asn1800Lys) c.*4722T>A (n.*4722T>A) c.230+12022T>A c.5430T>A (p.Asn1810Lys) c.5325T>A (p.Asn1775Lys) c.5316T>A (p.Asn1772Lys) c.5277T>A (p.Asn1759Lys) c.5223T>A (p.Asn1741Lys) c.5127T>A (p.Asn1709Lys) c.5097T>A (p.Asn1699Lys) c.5022T>A (p.Asn1674Lys) c.4920T>A (p.Asn1640Lys) c.4551T>A (p.Asn1517Lys) | dbSNP |
| 5 | g.112840994T>C | CA041813 | APC | c.5454T>C (p.Asn1818=) c.*5406T>C (n.*5406T>C) c.5346T>C (p.Asn1782=) c.5400T>C (p.Asn1800=) c.*4722T>C (n.*4722T>C) c.230+12022T>C c.5430T>C (p.Asn1810=) c.5325T>C (p.Asn1775=) c.5316T>C (p.Asn1772=) c.5277T>C (p.Asn1759=) c.5223T>C (p.Asn1741=) c.5127T>C (p.Asn1709=) c.5097T>C (p.Asn1699=) c.5022T>C (p.Asn1674=) c.4920T>C (p.Asn1640=) c.4551T>C (p.Asn1517=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112840994T>G | CA16033136 | APC | c.5454T>G (p.Asn1818Lys) c.*5406T>G (n.*5406T>G) c.5346T>G (p.Asn1782Lys) c.5400T>G (p.Asn1800Lys) c.*4722T>G (n.*4722T>G) c.230+12022T>G c.5430T>G (p.Asn1810Lys) c.5325T>G (p.Asn1775Lys) c.5316T>G (p.Asn1772Lys) c.5277T>G (p.Asn1759Lys) c.5223T>G (p.Asn1741Lys) c.5127T>G (p.Asn1709Lys) c.5097T>G (p.Asn1699Lys) c.5022T>G (p.Asn1674Lys) c.4920T>G (p.Asn1640Lys) c.4551T>G (p.Asn1517Lys) | |
| 5 | g.112840994T= | CA1573476081 | APC | c.5454T= (p.Asn1818=) c.*5406T= (n.*5406T=) c.5346T= (p.Asn1782=) c.5400T= (p.Asn1800=) c.*4722T= (n.*4722T=) c.230+12022T= c.5430T= (p.Asn1810=) c.5325T= (p.Asn1775=) c.5316T= (p.Asn1772=) c.5277T= (p.Asn1759=) c.5223T= (p.Asn1741=) c.5127T= (p.Asn1709=) c.5097T= (p.Asn1699=) c.5022T= (p.Asn1674=) c.4920T= (p.Asn1640=) c.4551T= (p.Asn1517=) | |
| 5 | g.112840995G>A | CA16033137 | APC | c.5455G>A (p.Ala1819Thr) c.*5407G>A (n.*5407G>A) c.5347G>A (p.Ala1783Thr) c.5401G>A (p.Ala1801Thr) c.*4723G>A (n.*4723G>A) c.230+12023G>A c.5431G>A (p.Ala1811Thr) c.5326G>A (p.Ala1776Thr) c.5317G>A (p.Ala1773Thr) c.5278G>A (p.Ala1760Thr) c.5224G>A (p.Ala1742Thr) c.5128G>A (p.Ala1710Thr) c.5098G>A (p.Ala1700Thr) c.5023G>A (p.Ala1675Thr) c.4921G>A (p.Ala1641Thr) c.4552G>A (p.Ala1518Thr) | dbSNP gnomAD v2 |
| 5 | g.112840995G>C | CA16033138 | APC | c.5455G>C (p.Ala1819Pro) c.*5407G>C (n.*5407G>C) c.5347G>C (p.Ala1783Pro) c.5401G>C (p.Ala1801Pro) c.*4723G>C (n.*4723G>C) c.230+12023G>C c.5431G>C (p.Ala1811Pro) c.5326G>C (p.Ala1776Pro) c.5317G>C (p.Ala1773Pro) c.5278G>C (p.Ala1760Pro) c.5224G>C (p.Ala1742Pro) c.5128G>C (p.Ala1710Pro) c.5098G>C (p.Ala1700Pro) c.5023G>C (p.Ala1675Pro) c.4921G>C (p.Ala1641Pro) c.4552G>C (p.Ala1518Pro) | dbSNP |
| 5 | g.112840995G= | CA1573476091 | APC | c.5455G= (p.Ala1819=) c.*5407G= (n.*5407G=) c.5347G= (p.Ala1783=) c.5401G= (p.Ala1801=) c.*4723G= (n.*4723G=) c.230+12023G= c.5431G= (p.Ala1811=) c.5326G= (p.Ala1776=) c.5317G= (p.Ala1773=) c.5278G= (p.Ala1760=) c.5224G= (p.Ala1742=) c.5128G= (p.Ala1710=) c.5098G= (p.Ala1700=) c.5023G= (p.Ala1675=) c.4921G= (p.Ala1641=) c.4552G= (p.Ala1518=) | |
| 5 | g.112840995G>T | CA16033139 | APC | c.5455G>T (p.Ala1819Ser) c.*5407G>T (n.*5407G>T) c.5347G>T (p.Ala1783Ser) c.5401G>T (p.Ala1801Ser) c.*4723G>T (n.*4723G>T) c.230+12023G>T c.5431G>T (p.Ala1811Ser) c.5326G>T (p.Ala1776Ser) c.5317G>T (p.Ala1773Ser) c.5278G>T (p.Ala1760Ser) c.5224G>T (p.Ala1742Ser) c.5128G>T (p.Ala1710Ser) c.5098G>T (p.Ala1700Ser) c.5023G>T (p.Ala1675Ser) c.4921G>T (p.Ala1641Ser) c.4552G>T (p.Ala1518Ser) | ClinVar dbSNP COSMIC |
| 5 | g.112840996C>A | CA16033140 | APC | c.5456C>A (p.Ala1819Asp) c.*5408C>A (n.*5408C>A) c.5348C>A (p.Ala1783Asp) c.5402C>A (p.Ala1801Asp) c.*4724C>A (n.*4724C>A) c.230+12024C>A c.5432C>A (p.Ala1811Asp) c.5327C>A (p.Ala1776Asp) c.5318C>A (p.Ala1773Asp) c.5279C>A (p.Ala1760Asp) c.5225C>A (p.Ala1742Asp) c.5129C>A (p.Ala1710Asp) c.5099C>A (p.Ala1700Asp) c.5024C>A (p.Ala1675Asp) c.4922C>A (p.Ala1641Asp) c.4553C>A (p.Ala1518Asp) | dbSNP |
| 5 | g.112840996C= | CA1573476101 | APC | c.5456C= (p.Ala1819=) c.*5408C= (n.*5408C=) c.5348C= (p.Ala1783=) c.5402C= (p.Ala1801=) c.*4724C= (n.*4724C=) c.230+12024C= c.5432C= (p.Ala1811=) c.5327C= (p.Ala1776=) c.5318C= (p.Ala1773=) c.5279C= (p.Ala1760=) c.5225C= (p.Ala1742=) c.5129C= (p.Ala1710=) c.5099C= (p.Ala1700=) c.5024C= (p.Ala1675=) c.4922C= (p.Ala1641=) c.4553C= (p.Ala1518=) | |
| 5 | g.112840996C>G | CA16033141 | APC | c.5456C>G (p.Ala1819Gly) c.*5408C>G (n.*5408C>G) c.5348C>G (p.Ala1783Gly) c.5402C>G (p.Ala1801Gly) c.*4724C>G (n.*4724C>G) c.230+12024C>G c.5432C>G (p.Ala1811Gly) c.5327C>G (p.Ala1776Gly) c.5318C>G (p.Ala1773Gly) c.5279C>G (p.Ala1760Gly) c.5225C>G (p.Ala1742Gly) c.5129C>G (p.Ala1710Gly) c.5099C>G (p.Ala1700Gly) c.5024C>G (p.Ala1675Gly) c.4922C>G (p.Ala1641Gly) c.4553C>G (p.Ala1518Gly) | ClinVar dbSNP |
| 5 | g.112840996C>T | CA10578403 | APC | c.5456C>T (p.Ala1819Val) c.*5408C>T (n.*5408C>T) c.5348C>T (p.Ala1783Val) c.5402C>T (p.Ala1801Val) c.*4724C>T (n.*4724C>T) c.230+12024C>T c.5432C>T (p.Ala1811Val) c.5327C>T (p.Ala1776Val) c.5318C>T (p.Ala1773Val) c.5279C>T (p.Ala1760Val) c.5225C>T (p.Ala1742Val) c.5129C>T (p.Ala1710Val) c.5099C>T (p.Ala1700Val) c.5024C>T (p.Ala1675Val) c.4922C>T (p.Ala1641Val) c.4553C>T (p.Ala1518Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840997T>A | CA446208844 | APC | c.5457T>A (p.Ala1819=) c.*5409T>A (n.*5409T>A) c.5349T>A (p.Ala1783=) c.5403T>A (p.Ala1801=) c.*4725T>A (n.*4725T>A) c.230+12025T>A c.5433T>A (p.Ala1811=) c.5328T>A (p.Ala1776=) c.5319T>A (p.Ala1773=) c.5280T>A (p.Ala1760=) c.5226T>A (p.Ala1742=) c.5130T>A (p.Ala1710=) c.5100T>A (p.Ala1700=) c.5025T>A (p.Ala1675=) c.4923T>A (p.Ala1641=) c.4554T>A (p.Ala1518=) | |
| 5 | g.112840997T>C | CA041827 | APC | c.5457T>C (p.Ala1819=) c.*5409T>C (n.*5409T>C) c.5349T>C (p.Ala1783=) c.5403T>C (p.Ala1801=) c.*4725T>C (n.*4725T>C) c.230+12025T>C c.5433T>C (p.Ala1811=) c.5328T>C (p.Ala1776=) c.5319T>C (p.Ala1773=) c.5280T>C (p.Ala1760=) c.5226T>C (p.Ala1742=) c.5130T>C (p.Ala1710=) c.5100T>C (p.Ala1700=) c.5025T>C (p.Ala1675=) c.4923T>C (p.Ala1641=) c.4554T>C (p.Ala1518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840997T>G | CA446208845 | APC | c.5457T>G (p.Ala1819=) c.*5409T>G (n.*5409T>G) c.5349T>G (p.Ala1783=) c.5403T>G (p.Ala1801=) c.*4725T>G (n.*4725T>G) c.230+12025T>G c.5433T>G (p.Ala1811=) c.5328T>G (p.Ala1776=) c.5319T>G (p.Ala1773=) c.5280T>G (p.Ala1760=) c.5226T>G (p.Ala1742=) c.5130T>G (p.Ala1710=) c.5100T>G (p.Ala1700=) c.5025T>G (p.Ala1675=) c.4923T>G (p.Ala1641=) c.4554T>G (p.Ala1518=) | |
| 5 | g.112840997T= | CA1573476123 | APC | c.5457T= (p.Ala1819=) c.*5409T= (n.*5409T=) c.5349T= (p.Ala1783=) c.5403T= (p.Ala1801=) c.*4725T= (n.*4725T=) c.230+12025T= c.5433T= (p.Ala1811=) c.5328T= (p.Ala1776=) c.5319T= (p.Ala1773=) c.5280T= (p.Ala1760=) c.5226T= (p.Ala1742=) c.5130T= (p.Ala1710=) c.5100T= (p.Ala1700=) c.5025T= (p.Ala1675=) c.4923T= (p.Ala1641=) c.4554T= (p.Ala1518=) | |
| 5 | g.112840998G>A | CA041838 | APC | c.5458G>A (p.Glu1820Lys) c.*5410G>A (n.*5410G>A) c.5350G>A (p.Glu1784Lys) c.5404G>A (p.Glu1802Lys) c.*4726G>A (n.*4726G>A) c.230+12026G>A c.5434G>A (p.Glu1812Lys) c.5329G>A (p.Glu1777Lys) c.5320G>A (p.Glu1774Lys) c.5281G>A (p.Glu1761Lys) c.5227G>A (p.Glu1743Lys) c.5131G>A (p.Glu1711Lys) c.5101G>A (p.Glu1701Lys) c.5026G>A (p.Glu1676Lys) c.4924G>A (p.Glu1642Lys) c.4555G>A (p.Glu1519Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112840998G>C | CA16033142 | APC | c.5458G>C (p.Glu1820Gln) c.*5410G>C (n.*5410G>C) c.5350G>C (p.Glu1784Gln) c.5404G>C (p.Glu1802Gln) c.*4726G>C (n.*4726G>C) c.230+12026G>C c.5434G>C (p.Glu1812Gln) c.5329G>C (p.Glu1777Gln) c.5320G>C (p.Glu1774Gln) c.5281G>C (p.Glu1761Gln) c.5227G>C (p.Glu1743Gln) c.5131G>C (p.Glu1711Gln) c.5101G>C (p.Glu1701Gln) c.5026G>C (p.Glu1676Gln) c.4924G>C (p.Glu1642Gln) c.4555G>C (p.Glu1519Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840998G= | CA1573476131 | APC | c.5458G= (p.Glu1820=) c.*5410G= (n.*5410G=) c.5350G= (p.Glu1784=) c.5404G= (p.Glu1802=) c.*4726G= (n.*4726G=) c.230+12026G= c.5434G= (p.Glu1812=) c.5329G= (p.Glu1777=) c.5320G= (p.Glu1774=) c.5281G= (p.Glu1761=) c.5227G= (p.Glu1743=) c.5131G= (p.Glu1711=) c.5101G= (p.Glu1701=) c.5026G= (p.Glu1676=) c.4924G= (p.Glu1642=) c.4555G= (p.Glu1519=) | |
| 5 | g.112840998G>T | CA16033143 | APC | c.5458G>T (p.Glu1820Ter) c.*5410G>T (n.*5410G>T) c.5350G>T (p.Glu1784Ter) c.5404G>T (p.Glu1802Ter) c.*4726G>T (n.*4726G>T) c.230+12026G>T c.5434G>T (p.Glu1812Ter) c.5329G>T (p.Glu1777Ter) c.5320G>T (p.Glu1774Ter) c.5281G>T (p.Glu1761Ter) c.5227G>T (p.Glu1743Ter) c.5131G>T (p.Glu1711Ter) c.5101G>T (p.Glu1701Ter) c.5026G>T (p.Glu1676Ter) c.4924G>T (p.Glu1642Ter) c.4555G>T (p.Glu1519Ter) | dbSNP |
| 5 | g.112841003_112841004del | CA913189195 | APC | c.5463_5464del (p.Arg1821SerfsTer16) c.*5415_*5416del (n.*5415_*5416del) c.5355_5356del (p.Arg1785SerfsTer16) c.5409_5410del (p.Arg1803SerfsTer16) c.*4731_*4732del (n.*4731_*4732del) c.230+12031_230+12032del c.5439_5440del (p.Arg1813SerfsTer16) c.5334_5335del (p.Arg1778SerfsTer16) c.5325_5326del (p.Arg1775SerfsTer16) c.5286_5287del (p.Arg1762SerfsTer16) c.5232_5233del (p.Arg1744SerfsTer16) c.5136_5137del (p.Arg1712SerfsTer16) c.5106_5107del (p.Arg1702SerfsTer16) c.5031_5032del (p.Arg1677SerfsTer16) c.4929_4930del (p.Arg1643SerfsTer16) c.4560_4561del (p.Arg1520SerfsTer16) | ClinVar dbSNP |
| 5 | g.112841001_112841004del | CA2578379948 | APC | c.5461_5464del (p.Arg1821PhefsTer13) c.*5413_*5416del (n.*5413_*5416del) c.5353_5356del (p.Arg1785PhefsTer13) c.5407_5410del (p.Arg1803PhefsTer13) c.*4729_*4732del (n.*4729_*4732del) c.230+12029_230+12032del c.5437_5440del (p.Arg1813PhefsTer13) c.5332_5335del (p.Arg1778PhefsTer13) c.5323_5326del (p.Arg1775PhefsTer13) c.5284_5287del (p.Arg1762PhefsTer13) c.5230_5233del (p.Arg1744PhefsTer13) c.5134_5137del (p.Arg1712PhefsTer13) c.5104_5107del (p.Arg1702PhefsTer13) c.5029_5032del (p.Arg1677PhefsTer13) c.4927_4930del (p.Arg1643PhefsTer13) c.4558_4561del (p.Arg1520PhefsTer13) | |
| 5 | g.112840999A>C | CA16033144 | APC | c.5459A>C (p.Glu1820Ala) c.*5411A>C (n.*5411A>C) c.5351A>C (p.Glu1784Ala) c.5405A>C (p.Glu1802Ala) c.*4727A>C (n.*4727A>C) c.230+12027A>C c.5435A>C (p.Glu1812Ala) c.5330A>C (p.Glu1777Ala) c.5321A>C (p.Glu1774Ala) c.5282A>C (p.Glu1761Ala) c.5228A>C (p.Glu1743Ala) c.5132A>C (p.Glu1711Ala) c.5102A>C (p.Glu1701Ala) c.5027A>C (p.Glu1676Ala) c.4925A>C (p.Glu1642Ala) c.4556A>C (p.Glu1519Ala) | |
| 5 | g.112840999A>G | CA16033145 | APC | c.5459A>G (p.Glu1820Gly) c.*5411A>G (n.*5411A>G) c.5351A>G (p.Glu1784Gly) c.5405A>G (p.Glu1802Gly) c.*4727A>G (n.*4727A>G) c.230+12027A>G c.5435A>G (p.Glu1812Gly) c.5330A>G (p.Glu1777Gly) c.5321A>G (p.Glu1774Gly) c.5282A>G (p.Glu1761Gly) c.5228A>G (p.Glu1743Gly) c.5132A>G (p.Glu1711Gly) c.5102A>G (p.Glu1701Gly) c.5027A>G (p.Glu1676Gly) c.4925A>G (p.Glu1642Gly) c.4556A>G (p.Glu1519Gly) | |
| 5 | g.112840999A>T | CA16033146 | APC | c.5459A>T (p.Glu1820Val) c.*5411A>T (n.*5411A>T) c.5351A>T (p.Glu1784Val) c.5405A>T (p.Glu1802Val) c.*4727A>T (n.*4727A>T) c.230+12027A>T c.5435A>T (p.Glu1812Val) c.5330A>T (p.Glu1777Val) c.5321A>T (p.Glu1774Val) c.5282A>T (p.Glu1761Val) c.5228A>T (p.Glu1743Val) c.5132A>T (p.Glu1711Val) c.5102A>T (p.Glu1701Val) c.5027A>T (p.Glu1676Val) c.4925A>T (p.Glu1642Val) c.4556A>T (p.Glu1519Val) | dbSNP |
| 5 | g.112841000G>A | CA446208846 | APC | c.5460G>A (p.Glu1820=) c.*5412G>A (n.*5412G>A) c.5352G>A (p.Glu1784=) c.5406G>A (p.Glu1802=) c.*4728G>A (n.*4728G>A) c.230+12028G>A c.5436G>A (p.Glu1812=) c.5331G>A (p.Glu1777=) c.5322G>A (p.Glu1774=) c.5283G>A (p.Glu1761=) c.5229G>A (p.Glu1743=) c.5133G>A (p.Glu1711=) c.5103G>A (p.Glu1701=) c.5028G>A (p.Glu1676=) c.4926G>A (p.Glu1642=) c.4557G>A (p.Glu1519=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112841000G>C | CA16033147 | APC | c.5460G>C (p.Glu1820Asp) c.*5412G>C (n.*5412G>C) c.5352G>C (p.Glu1784Asp) c.5406G>C (p.Glu1802Asp) c.*4728G>C (n.*4728G>C) c.230+12028G>C c.5436G>C (p.Glu1812Asp) c.5331G>C (p.Glu1777Asp) c.5322G>C (p.Glu1774Asp) c.5283G>C (p.Glu1761Asp) c.5229G>C (p.Glu1743Asp) c.5133G>C (p.Glu1711Asp) c.5103G>C (p.Glu1701Asp) c.5028G>C (p.Glu1676Asp) c.4926G>C (p.Glu1642Asp) c.4557G>C (p.Glu1519Asp) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841000G= | CA1573476141 | APC | c.5460G= (p.Glu1820=) c.*5412G= (n.*5412G=) c.5352G= (p.Glu1784=) c.5406G= (p.Glu1802=) c.*4728G= (n.*4728G=) c.230+12028G= c.5436G= (p.Glu1812=) c.5331G= (p.Glu1777=) c.5322G= (p.Glu1774=) c.5283G= (p.Glu1761=) c.5229G= (p.Glu1743=) c.5133G= (p.Glu1711=) c.5103G= (p.Glu1701=) c.5028G= (p.Glu1676=) c.4926G= (p.Glu1642=) c.4557G= (p.Glu1519=) | |
| 5 | g.112841000G>T | CA16033148 | APC | c.5460G>T (p.Glu1820Asp) c.*5412G>T (n.*5412G>T) c.5352G>T (p.Glu1784Asp) c.5406G>T (p.Glu1802Asp) c.*4728G>T (n.*4728G>T) c.230+12028G>T c.5436G>T (p.Glu1812Asp) c.5331G>T (p.Glu1777Asp) c.5322G>T (p.Glu1774Asp) c.5283G>T (p.Glu1761Asp) c.5229G>T (p.Glu1743Asp) c.5133G>T (p.Glu1711Asp) c.5103G>T (p.Glu1701Asp) c.5028G>T (p.Glu1676Asp) c.4926G>T (p.Glu1642Asp) c.4557G>T (p.Glu1519Asp) | dbSNP |
| 5 | g.112841001A>C | CA446208847 | APC | c.5461A>C (p.Arg1821=) c.*5413A>C (n.*5413A>C) c.5353A>C (p.Arg1785=) c.5407A>C (p.Arg1803=) c.*4729A>C (n.*4729A>C) c.230+12029A>C c.5437A>C (p.Arg1813=) c.5332A>C (p.Arg1778=) c.5323A>C (p.Arg1775=) c.5284A>C (p.Arg1762=) c.5230A>C (p.Arg1744=) c.5134A>C (p.Arg1712=) c.5104A>C (p.Arg1702=) c.5029A>C (p.Arg1677=) c.4927A>C (p.Arg1643=) c.4558A>C (p.Arg1520=) | |
| 5 | g.112841001A>G | CA16033149 | APC | c.5461A>G (p.Arg1821Gly) c.*5413A>G (n.*5413A>G) c.5353A>G (p.Arg1785Gly) c.5407A>G (p.Arg1803Gly) c.*4729A>G (n.*4729A>G) c.230+12029A>G c.5437A>G (p.Arg1813Gly) c.5332A>G (p.Arg1778Gly) c.5323A>G (p.Arg1775Gly) c.5284A>G (p.Arg1762Gly) c.5230A>G (p.Arg1744Gly) c.5134A>G (p.Arg1712Gly) c.5104A>G (p.Arg1702Gly) c.5029A>G (p.Arg1677Gly) c.4927A>G (p.Arg1643Gly) c.4558A>G (p.Arg1520Gly) | |
| 5 | g.112841001A>T | CA16033150 | APC | c.5461A>T (p.Arg1821Ter) c.*5413A>T (n.*5413A>T) c.5353A>T (p.Arg1785Ter) c.5407A>T (p.Arg1803Ter) c.*4729A>T (n.*4729A>T) c.230+12029A>T c.5437A>T (p.Arg1813Ter) c.5332A>T (p.Arg1778Ter) c.5323A>T (p.Arg1775Ter) c.5284A>T (p.Arg1762Ter) c.5230A>T (p.Arg1744Ter) c.5134A>T (p.Arg1712Ter) c.5104A>T (p.Arg1702Ter) c.5029A>T (p.Arg1677Ter) c.4927A>T (p.Arg1643Ter) c.4558A>T (p.Arg1520Ter) | |
| 5 | g.112841002G>A | CA16033151 | APC | c.5462G>A (p.Arg1821Lys) c.*5414G>A (n.*5414G>A) c.5354G>A (p.Arg1785Lys) c.5408G>A (p.Arg1803Lys) c.*4730G>A (n.*4730G>A) c.230+12030G>A c.5438G>A (p.Arg1813Lys) c.5333G>A (p.Arg1778Lys) c.5324G>A (p.Arg1775Lys) c.5285G>A (p.Arg1762Lys) c.5231G>A (p.Arg1744Lys) c.5135G>A (p.Arg1712Lys) c.5105G>A (p.Arg1702Lys) c.5030G>A (p.Arg1677Lys) c.4928G>A (p.Arg1643Lys) c.4559G>A (p.Arg1520Lys) | dbSNP gnomAD v4 |
| 5 | g.112841002G>C | CA16033152 | APC | c.5462G>C (p.Arg1821Thr) c.*5414G>C (n.*5414G>C) c.5354G>C (p.Arg1785Thr) c.5408G>C (p.Arg1803Thr) c.*4730G>C (n.*4730G>C) c.230+12030G>C c.5438G>C (p.Arg1813Thr) c.5333G>C (p.Arg1778Thr) c.5324G>C (p.Arg1775Thr) c.5285G>C (p.Arg1762Thr) c.5231G>C (p.Arg1744Thr) c.5135G>C (p.Arg1712Thr) c.5105G>C (p.Arg1702Thr) c.5030G>C (p.Arg1677Thr) c.4928G>C (p.Arg1643Thr) c.4559G>C (p.Arg1520Thr) | ClinVar dbSNP gnomAD v2 |
| 5 | g.112841002G= | CA1573476159 | APC | c.5462G= (p.Arg1821=) c.*5414G= (n.*5414G=) c.5354G= (p.Arg1785=) c.5408G= (p.Arg1803=) c.*4730G= (n.*4730G=) c.230+12030G= c.5438G= (p.Arg1813=) c.5333G= (p.Arg1778=) c.5324G= (p.Arg1775=) c.5285G= (p.Arg1762=) c.5231G= (p.Arg1744=) c.5135G= (p.Arg1712=) c.5105G= (p.Arg1702=) c.5030G= (p.Arg1677=) c.4928G= (p.Arg1643=) c.4559G= (p.Arg1520=) | |
| 5 | g.112841002G>T | CA16033153 | APC | c.5462G>T (p.Arg1821Ile) c.*5414G>T (n.*5414G>T) c.5354G>T (p.Arg1785Ile) c.5408G>T (p.Arg1803Ile) c.*4730G>T (n.*4730G>T) c.230+12030G>T c.5438G>T (p.Arg1813Ile) c.5333G>T (p.Arg1778Ile) c.5324G>T (p.Arg1775Ile) c.5285G>T (p.Arg1762Ile) c.5231G>T (p.Arg1744Ile) c.5135G>T (p.Arg1712Ile) c.5105G>T (p.Arg1702Ile) c.5030G>T (p.Arg1677Ile) c.4928G>T (p.Arg1643Ile) c.4559G>T (p.Arg1520Ile) | |
| 5 | g.112841003A= | CA1573476187 | APC | c.5463A= (p.Arg1821=) c.*5415A= (n.*5415A=) c.5355A= (p.Arg1785=) c.5409A= (p.Arg1803=) c.*4731A= (n.*4731A=) c.230+12031A= c.5439A= (p.Arg1813=) c.5334A= (p.Arg1778=) c.5325A= (p.Arg1775=) c.5286A= (p.Arg1762=) c.5232A= (p.Arg1744=) c.5136A= (p.Arg1712=) c.5106A= (p.Arg1702=) c.5031A= (p.Arg1677=) c.4929A= (p.Arg1643=) c.4560A= (p.Arg1520=) | |
| 5 | g.112841003A>C | CA16033154 | APC | c.5463A>C (p.Arg1821Ser) c.*5415A>C (n.*5415A>C) c.5355A>C (p.Arg1785Ser) c.5409A>C (p.Arg1803Ser) c.*4731A>C (n.*4731A>C) c.230+12031A>C c.5439A>C (p.Arg1813Ser) c.5334A>C (p.Arg1778Ser) c.5325A>C (p.Arg1775Ser) c.5286A>C (p.Arg1762Ser) c.5232A>C (p.Arg1744Ser) c.5136A>C (p.Arg1712Ser) c.5106A>C (p.Arg1702Ser) c.5031A>C (p.Arg1677Ser) c.4929A>C (p.Arg1643Ser) c.4560A>C (p.Arg1520Ser) | |
| 5 | g.112841003A>G | CA041841 | APC | c.5463A>G (p.Arg1821=) c.*5415A>G (n.*5415A>G) c.5355A>G (p.Arg1785=) c.5409A>G (p.Arg1803=) c.*4731A>G (n.*4731A>G) c.230+12031A>G c.5439A>G (p.Arg1813=) c.5334A>G (p.Arg1778=) c.5325A>G (p.Arg1775=) c.5286A>G (p.Arg1762=) c.5232A>G (p.Arg1744=) c.5136A>G (p.Arg1712=) c.5106A>G (p.Arg1702=) c.5031A>G (p.Arg1677=) c.4929A>G (p.Arg1643=) c.4560A>G (p.Arg1520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |