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.112843830G>A | CA16039207 | APC | c.8290G>A (p.Val2764Ile) c.*8242G>A (n.*8242G>A) c.8182G>A (p.Val2728Ile) c.8236G>A (p.Val2746Ile) c.231-12819G>A c.8266G>A (p.Val2756Ile) c.8161G>A (p.Val2721Ile) c.8152G>A (p.Val2718Ile) c.8113G>A (p.Val2705Ile) c.8059G>A (p.Val2687Ile) c.7963G>A (p.Val2655Ile) c.7933G>A (p.Val2645Ile) c.7858G>A (p.Val2620Ile) c.7756G>A (p.Val2586Ile) c.7387G>A (p.Val2463Ile) | dbSNP gnomAD v4 |
| 5 | g.112843830G>C | CA16039208 | APC | c.8290G>C (p.Val2764Leu) c.*8242G>C (n.*8242G>C) c.8182G>C (p.Val2728Leu) c.8236G>C (p.Val2746Leu) c.231-12819G>C c.8266G>C (p.Val2756Leu) c.8161G>C (p.Val2721Leu) c.8152G>C (p.Val2718Leu) c.8113G>C (p.Val2705Leu) c.8059G>C (p.Val2687Leu) c.7963G>C (p.Val2655Leu) c.7933G>C (p.Val2645Leu) c.7858G>C (p.Val2620Leu) c.7756G>C (p.Val2586Leu) c.7387G>C (p.Val2463Leu) | dbSNP |
| 5 | g.112843830G= | CA1573477056 | APC | c.8290G= (p.Val2764=) c.*8242G= (n.*8242G=) c.8182G= (p.Val2728=) c.8236G= (p.Val2746=) c.231-12819G= c.8266G= (p.Val2756=) c.8161G= (p.Val2721=) c.8152G= (p.Val2718=) c.8113G= (p.Val2705=) c.8059G= (p.Val2687=) c.7963G= (p.Val2655=) c.7933G= (p.Val2645=) c.7858G= (p.Val2620=) c.7756G= (p.Val2586=) c.7387G= (p.Val2463=) | |
| 5 | g.112843830G>T | CA16039209 | APC | c.8290G>T (p.Val2764Phe) c.*8242G>T (n.*8242G>T) c.8182G>T (p.Val2728Phe) c.8236G>T (p.Val2746Phe) c.231-12819G>T c.8266G>T (p.Val2756Phe) c.8161G>T (p.Val2721Phe) c.8152G>T (p.Val2718Phe) c.8113G>T (p.Val2705Phe) c.8059G>T (p.Val2687Phe) c.7963G>T (p.Val2655Phe) c.7933G>T (p.Val2645Phe) c.7858G>T (p.Val2620Phe) c.7756G>T (p.Val2586Phe) c.7387G>T (p.Val2463Phe) | ClinVar dbSNP |
| 5 | g.112843831T>A | CA16039210 | APC | c.8291T>A (p.Val2764Asp) c.*8243T>A (n.*8243T>A) c.8183T>A (p.Val2728Asp) c.8237T>A (p.Val2746Asp) c.231-12818T>A c.8267T>A (p.Val2756Asp) c.8162T>A (p.Val2721Asp) c.8153T>A (p.Val2718Asp) c.8114T>A (p.Val2705Asp) c.8060T>A (p.Val2687Asp) c.7964T>A (p.Val2655Asp) c.7934T>A (p.Val2645Asp) c.7859T>A (p.Val2620Asp) c.7757T>A (p.Val2586Asp) c.7388T>A (p.Val2463Asp) | |
| 5 | g.112843831T>C | CA050294 | APC | c.8291T>C (p.Val2764Ala) c.*8243T>C (n.*8243T>C) c.8183T>C (p.Val2728Ala) c.8237T>C (p.Val2746Ala) c.231-12818T>C c.8267T>C (p.Val2756Ala) c.8162T>C (p.Val2721Ala) c.8153T>C (p.Val2718Ala) c.8114T>C (p.Val2705Ala) c.8060T>C (p.Val2687Ala) c.7964T>C (p.Val2655Ala) c.7934T>C (p.Val2645Ala) c.7859T>C (p.Val2620Ala) c.7757T>C (p.Val2586Ala) c.7388T>C (p.Val2463Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112843831T>G | CA16039211 | APC | c.8291T>G (p.Val2764Gly) c.*8243T>G (n.*8243T>G) c.8183T>G (p.Val2728Gly) c.8237T>G (p.Val2746Gly) c.231-12818T>G c.8267T>G (p.Val2756Gly) c.8162T>G (p.Val2721Gly) c.8153T>G (p.Val2718Gly) c.8114T>G (p.Val2705Gly) c.8060T>G (p.Val2687Gly) c.7964T>G (p.Val2655Gly) c.7934T>G (p.Val2645Gly) c.7859T>G (p.Val2620Gly) c.7757T>G (p.Val2586Gly) c.7388T>G (p.Val2463Gly) | ClinVar dbSNP |
| 5 | g.112843831T= | CA1573477064 | APC | c.8291T= (p.Val2764=) c.*8243T= (n.*8243T=) c.8183T= (p.Val2728=) c.8237T= (p.Val2746=) c.231-12818T= c.8267T= (p.Val2756=) c.8162T= (p.Val2721=) c.8153T= (p.Val2718=) c.8114T= (p.Val2705=) c.8060T= (p.Val2687=) c.7964T= (p.Val2655=) c.7934T= (p.Val2645=) c.7859T= (p.Val2620=) c.7757T= (p.Val2586=) c.7388T= (p.Val2463=) | |
| 5 | g.112843832C>A | CA446211328 | APC | c.8292C>A (p.Val2764=) c.*8244C>A (n.*8244C>A) c.8184C>A (p.Val2728=) c.8238C>A (p.Val2746=) c.231-12817C>A c.8268C>A (p.Val2756=) c.8163C>A (p.Val2721=) c.8154C>A (p.Val2718=) c.8115C>A (p.Val2705=) c.8061C>A (p.Val2687=) c.7965C>A (p.Val2655=) c.7935C>A (p.Val2645=) c.7860C>A (p.Val2620=) c.7758C>A (p.Val2586=) c.7389C>A (p.Val2463=) | dbSNP |
| 5 | g.112843832C= | CA1573477071 | APC | c.8292C= (p.Val2764=) c.*8244C= (n.*8244C=) c.8184C= (p.Val2728=) c.8238C= (p.Val2746=) c.231-12817C= c.8268C= (p.Val2756=) c.8163C= (p.Val2721=) c.8154C= (p.Val2718=) c.8115C= (p.Val2705=) c.8061C= (p.Val2687=) c.7965C= (p.Val2655=) c.7935C= (p.Val2645=) c.7860C= (p.Val2620=) c.7758C= (p.Val2586=) c.7389C= (p.Val2463=) | |
| 5 | g.112843832C>G | CA446211330 | APC | c.8292C>G (p.Val2764=) c.*8244C>G (n.*8244C>G) c.8184C>G (p.Val2728=) c.8238C>G (p.Val2746=) c.231-12817C>G c.8268C>G (p.Val2756=) c.8163C>G (p.Val2721=) c.8154C>G (p.Val2718=) c.8115C>G (p.Val2705=) c.8061C>G (p.Val2687=) c.7965C>G (p.Val2655=) c.7935C>G (p.Val2645=) c.7860C>G (p.Val2620=) c.7758C>G (p.Val2586=) c.7389C>G (p.Val2463=) | dbSNP |
| 5 | g.112843832C>T | CA446211331 | APC | c.8292C>T (p.Val2764=) c.*8244C>T (n.*8244C>T) c.8184C>T (p.Val2728=) c.8238C>T (p.Val2746=) c.231-12817C>T c.8268C>T (p.Val2756=) c.8163C>T (p.Val2721=) c.8154C>T (p.Val2718=) c.8115C>T (p.Val2705=) c.8061C>T (p.Val2687=) c.7965C>T (p.Val2655=) c.7935C>T (p.Val2645=) c.7860C>T (p.Val2620=) c.7758C>T (p.Val2586=) c.7389C>T (p.Val2463=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843833C>A | CA16039212 | APC | c.8293C>A (p.Pro2765Thr) c.*8245C>A (n.*8245C>A) c.8185C>A (p.Pro2729Thr) c.8239C>A (p.Pro2747Thr) c.231-12816C>A c.8269C>A (p.Pro2757Thr) c.8164C>A (p.Pro2722Thr) c.8155C>A (p.Pro2719Thr) c.8116C>A (p.Pro2706Thr) c.8062C>A (p.Pro2688Thr) c.7966C>A (p.Pro2656Thr) c.7936C>A (p.Pro2646Thr) c.7861C>A (p.Pro2621Thr) c.7759C>A (p.Pro2587Thr) c.7390C>A (p.Pro2464Thr) | dbSNP |
| 5 | g.112843833C= | CA1573477077 | APC | c.8293C= (p.Pro2765=) c.*8245C= (n.*8245C=) c.8185C= (p.Pro2729=) c.8239C= (p.Pro2747=) c.231-12816C= c.8269C= (p.Pro2757=) c.8164C= (p.Pro2722=) c.8155C= (p.Pro2719=) c.8116C= (p.Pro2706=) c.8062C= (p.Pro2688=) c.7966C= (p.Pro2656=) c.7936C= (p.Pro2646=) c.7861C= (p.Pro2621=) c.7759C= (p.Pro2587=) c.7390C= (p.Pro2464=) | |
| 5 | g.112843833C>G | CA16039213 | APC | c.8293C>G (p.Pro2765Ala) c.*8245C>G (n.*8245C>G) c.8185C>G (p.Pro2729Ala) c.8239C>G (p.Pro2747Ala) c.231-12816C>G c.8269C>G (p.Pro2757Ala) c.8164C>G (p.Pro2722Ala) c.8155C>G (p.Pro2719Ala) c.8116C>G (p.Pro2706Ala) c.8062C>G (p.Pro2688Ala) c.7966C>G (p.Pro2656Ala) c.7936C>G (p.Pro2646Ala) c.7861C>G (p.Pro2621Ala) c.7759C>G (p.Pro2587Ala) c.7390C>G (p.Pro2464Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112843833C>T | CA16039214 | APC | c.8293C>T (p.Pro2765Ser) c.*8245C>T (n.*8245C>T) c.8185C>T (p.Pro2729Ser) c.8239C>T (p.Pro2747Ser) c.231-12816C>T c.8269C>T (p.Pro2757Ser) c.8164C>T (p.Pro2722Ser) c.8155C>T (p.Pro2719Ser) c.8116C>T (p.Pro2706Ser) c.8062C>T (p.Pro2688Ser) c.7966C>T (p.Pro2656Ser) c.7936C>T (p.Pro2646Ser) c.7861C>T (p.Pro2621Ser) c.7759C>T (p.Pro2587Ser) c.7390C>T (p.Pro2464Ser) | ClinVar dbSNP |
| 5 | g.112843834C>A | CA16039215 | APC | c.8294C>A (p.Pro2765His) c.*8246C>A (n.*8246C>A) c.8186C>A (p.Pro2729His) c.8240C>A (p.Pro2747His) c.231-12815C>A c.8270C>A (p.Pro2757His) c.8165C>A (p.Pro2722His) c.8156C>A (p.Pro2719His) c.8117C>A (p.Pro2706His) c.8063C>A (p.Pro2688His) c.7967C>A (p.Pro2656His) c.7937C>A (p.Pro2646His) c.7862C>A (p.Pro2621His) c.7760C>A (p.Pro2587His) c.7391C>A (p.Pro2464His) | dbSNP |
| 5 | g.112843834C= | CA1573477083 | APC | c.8294C= (p.Pro2765=) c.*8246C= (n.*8246C=) c.8186C= (p.Pro2729=) c.8240C= (p.Pro2747=) c.231-12815C= c.8270C= (p.Pro2757=) c.8165C= (p.Pro2722=) c.8156C= (p.Pro2719=) c.8117C= (p.Pro2706=) c.8063C= (p.Pro2688=) c.7967C= (p.Pro2656=) c.7937C= (p.Pro2646=) c.7862C= (p.Pro2621=) c.7760C= (p.Pro2587=) c.7391C= (p.Pro2464=) | |
| 5 | g.112843834C>G | CA050303 | APC | c.8294C>G (p.Pro2765Arg) c.*8246C>G (n.*8246C>G) c.8186C>G (p.Pro2729Arg) c.8240C>G (p.Pro2747Arg) c.231-12815C>G c.8270C>G (p.Pro2757Arg) c.8165C>G (p.Pro2722Arg) c.8156C>G (p.Pro2719Arg) c.8117C>G (p.Pro2706Arg) c.8063C>G (p.Pro2688Arg) c.7967C>G (p.Pro2656Arg) c.7937C>G (p.Pro2646Arg) c.7862C>G (p.Pro2621Arg) c.7760C>G (p.Pro2587Arg) c.7391C>G (p.Pro2464Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112843834C>T | CA050311 | APC | c.8294C>T (p.Pro2765Leu) c.*8246C>T (n.*8246C>T) c.8186C>T (p.Pro2729Leu) c.8240C>T (p.Pro2747Leu) c.231-12815C>T c.8270C>T (p.Pro2757Leu) c.8165C>T (p.Pro2722Leu) c.8156C>T (p.Pro2719Leu) c.8117C>T (p.Pro2706Leu) c.8063C>T (p.Pro2688Leu) c.7967C>T (p.Pro2656Leu) c.7937C>T (p.Pro2646Leu) c.7862C>T (p.Pro2621Leu) c.7760C>T (p.Pro2587Leu) c.7391C>T (p.Pro2464Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112843835T>A | CA446211333 | APC | c.8295T>A (p.Pro2765=) c.*8247T>A (n.*8247T>A) c.8187T>A (p.Pro2729=) c.8241T>A (p.Pro2747=) c.231-12814T>A c.8271T>A (p.Pro2757=) c.8166T>A (p.Pro2722=) c.8157T>A (p.Pro2719=) c.8118T>A (p.Pro2706=) c.8064T>A (p.Pro2688=) c.7968T>A (p.Pro2656=) c.7938T>A (p.Pro2646=) c.7863T>A (p.Pro2621=) c.7761T>A (p.Pro2587=) c.7392T>A (p.Pro2464=) | dbSNP |
| 5 | g.112843835T>C | CA446211334 | APC | c.8295T>C (p.Pro2765=) c.*8247T>C (n.*8247T>C) c.8187T>C (p.Pro2729=) c.8241T>C (p.Pro2747=) c.231-12814T>C c.8271T>C (p.Pro2757=) c.8166T>C (p.Pro2722=) c.8157T>C (p.Pro2719=) c.8118T>C (p.Pro2706=) c.8064T>C (p.Pro2688=) c.7968T>C (p.Pro2656=) c.7938T>C (p.Pro2646=) c.7863T>C (p.Pro2621=) c.7761T>C (p.Pro2587=) c.7392T>C (p.Pro2464=) | dbSNP |
| 5 | g.112843835T>G | CA16611679 | APC | c.8295T>G (p.Pro2765=) c.*8247T>G (n.*8247T>G) c.8187T>G (p.Pro2729=) c.8241T>G (p.Pro2747=) c.231-12814T>G c.8271T>G (p.Pro2757=) c.8166T>G (p.Pro2722=) c.8157T>G (p.Pro2719=) c.8118T>G (p.Pro2706=) c.8064T>G (p.Pro2688=) c.7968T>G (p.Pro2656=) c.7938T>G (p.Pro2646=) c.7863T>G (p.Pro2621=) c.7761T>G (p.Pro2587=) c.7392T>G (p.Pro2464=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843835T= | CA1573477096 | APC | c.8295T= (p.Pro2765=) c.*8247T= (n.*8247T=) c.8187T= (p.Pro2729=) c.8241T= (p.Pro2747=) c.231-12814T= c.8271T= (p.Pro2757=) c.8166T= (p.Pro2722=) c.8157T= (p.Pro2719=) c.8118T= (p.Pro2706=) c.8064T= (p.Pro2688=) c.7968T= (p.Pro2656=) c.7938T= (p.Pro2646=) c.7863T= (p.Pro2621=) c.7761T= (p.Pro2587=) c.7392T= (p.Pro2464=) | |
| 5 | g.112843836G>A | CA16039216 | APC | c.8296G>A (p.Val2766Ile) c.*8248G>A (n.*8248G>A) c.8188G>A (p.Val2730Ile) c.8242G>A (p.Val2748Ile) c.231-12813G>A c.8272G>A (p.Val2758Ile) c.8167G>A (p.Val2723Ile) c.8158G>A (p.Val2720Ile) c.8119G>A (p.Val2707Ile) c.8065G>A (p.Val2689Ile) c.7969G>A (p.Val2657Ile) c.7939G>A (p.Val2647Ile) c.7864G>A (p.Val2622Ile) c.7762G>A (p.Val2588Ile) c.7393G>A (p.Val2465Ile) | ClinVar dbSNP |
| 5 | g.112843836G>C | CA16039217 | APC | c.8296G>C (p.Val2766Leu) c.*8248G>C (n.*8248G>C) c.8188G>C (p.Val2730Leu) c.8242G>C (p.Val2748Leu) c.231-12813G>C c.8272G>C (p.Val2758Leu) c.8167G>C (p.Val2723Leu) c.8158G>C (p.Val2720Leu) c.8119G>C (p.Val2707Leu) c.8065G>C (p.Val2689Leu) c.7969G>C (p.Val2657Leu) c.7939G>C (p.Val2647Leu) c.7864G>C (p.Val2622Leu) c.7762G>C (p.Val2588Leu) c.7393G>C (p.Val2465Leu) | dbSNP |
| 5 | g.112843836G>T | CA16039218 | APC | c.8296G>T (p.Val2766Leu) c.*8248G>T (n.*8248G>T) c.8188G>T (p.Val2730Leu) c.8242G>T (p.Val2748Leu) c.231-12813G>T c.8272G>T (p.Val2758Leu) c.8167G>T (p.Val2723Leu) c.8158G>T (p.Val2720Leu) c.8119G>T (p.Val2707Leu) c.8065G>T (p.Val2689Leu) c.7969G>T (p.Val2657Leu) c.7939G>T (p.Val2647Leu) c.7864G>T (p.Val2622Leu) c.7762G>T (p.Val2588Leu) c.7393G>T (p.Val2465Leu) | ClinVar gnomAD v4 |
| 5 | g.112843837T>A | CA16039219 | APC | c.8297T>A (p.Val2766Glu) c.*8249T>A (n.*8249T>A) c.8189T>A (p.Val2730Glu) c.8243T>A (p.Val2748Glu) c.231-12812T>A c.8273T>A (p.Val2758Glu) c.8168T>A (p.Val2723Glu) c.8159T>A (p.Val2720Glu) c.8120T>A (p.Val2707Glu) c.8066T>A (p.Val2689Glu) c.7970T>A (p.Val2657Glu) c.7940T>A (p.Val2647Glu) c.7865T>A (p.Val2622Glu) c.7763T>A (p.Val2588Glu) c.7394T>A (p.Val2465Glu) | dbSNP |
| 5 | g.112843837T>C | CA16039220 | APC | c.8297T>C (p.Val2766Ala) c.*8249T>C (n.*8249T>C) c.8189T>C (p.Val2730Ala) c.8243T>C (p.Val2748Ala) c.231-12812T>C c.8273T>C (p.Val2758Ala) c.8168T>C (p.Val2723Ala) c.8159T>C (p.Val2720Ala) c.8120T>C (p.Val2707Ala) c.8066T>C (p.Val2689Ala) c.7970T>C (p.Val2657Ala) c.7940T>C (p.Val2647Ala) c.7865T>C (p.Val2622Ala) c.7763T>C (p.Val2588Ala) c.7394T>C (p.Val2465Ala) | dbSNP |
| 5 | g.112843837T>G | CA16039221 | APC | c.8297T>G (p.Val2766Gly) c.*8249T>G (n.*8249T>G) c.8189T>G (p.Val2730Gly) c.8243T>G (p.Val2748Gly) c.231-12812T>G c.8273T>G (p.Val2758Gly) c.8168T>G (p.Val2723Gly) c.8159T>G (p.Val2720Gly) c.8120T>G (p.Val2707Gly) c.8066T>G (p.Val2689Gly) c.7970T>G (p.Val2657Gly) c.7940T>G (p.Val2647Gly) c.7865T>G (p.Val2622Gly) c.7763T>G (p.Val2588Gly) c.7394T>G (p.Val2465Gly) | dbSNP |
| 5 | g.112843838A= | CA1573477100 | APC | c.8298A= (p.Val2766=) c.*8250A= (n.*8250A=) c.8190A= (p.Val2730=) c.8244A= (p.Val2748=) c.231-12811A= c.8274A= (p.Val2758=) c.8169A= (p.Val2723=) c.8160A= (p.Val2720=) c.8121A= (p.Val2707=) c.8067A= (p.Val2689=) c.7971A= (p.Val2657=) c.7941A= (p.Val2647=) c.7866A= (p.Val2622=) c.7764A= (p.Val2588=) c.7395A= (p.Val2465=) | |
| 5 | g.112843838A>C | CA446211341 | APC | c.8298A>C (p.Val2766=) c.*8250A>C (n.*8250A>C) c.8190A>C (p.Val2730=) c.8244A>C (p.Val2748=) c.231-12811A>C c.8274A>C (p.Val2758=) c.8169A>C (p.Val2723=) c.8160A>C (p.Val2720=) c.8121A>C (p.Val2707=) c.8067A>C (p.Val2689=) c.7971A>C (p.Val2657=) c.7941A>C (p.Val2647=) c.7866A>C (p.Val2622=) c.7764A>C (p.Val2588=) c.7395A>C (p.Val2465=) | dbSNP |
| 5 | g.112843838A>G | CA446211342 | APC | c.8298A>G (p.Val2766=) c.*8250A>G (n.*8250A>G) c.8190A>G (p.Val2730=) c.8244A>G (p.Val2748=) c.231-12811A>G c.8274A>G (p.Val2758=) c.8169A>G (p.Val2723=) c.8160A>G (p.Val2720=) c.8121A>G (p.Val2707=) c.8067A>G (p.Val2689=) c.7971A>G (p.Val2657=) c.7941A>G (p.Val2647=) c.7866A>G (p.Val2622=) c.7764A>G (p.Val2588=) c.7395A>G (p.Val2465=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843838A>T | CA446211343 | APC | c.8298A>T (p.Val2766=) c.*8250A>T (n.*8250A>T) c.8190A>T (p.Val2730=) c.8244A>T (p.Val2748=) c.231-12811A>T c.8274A>T (p.Val2758=) c.8169A>T (p.Val2723=) c.8160A>T (p.Val2720=) c.8121A>T (p.Val2707=) c.8067A>T (p.Val2689=) c.7971A>T (p.Val2657=) c.7941A>T (p.Val2647=) c.7866A>T (p.Val2622=) c.7764A>T (p.Val2588=) c.7395A>T (p.Val2465=) | dbSNP |
| 5 | g.112843839T>A | CA16039222 | APC | c.8299T>A (p.Ser2767Thr) c.*8251T>A (n.*8251T>A) c.8191T>A (p.Ser2731Thr) c.8245T>A (p.Ser2749Thr) c.231-12810T>A c.8275T>A (p.Ser2759Thr) c.8170T>A (p.Ser2724Thr) c.8161T>A (p.Ser2721Thr) c.8122T>A (p.Ser2708Thr) c.8068T>A (p.Ser2690Thr) c.7972T>A (p.Ser2658Thr) c.7942T>A (p.Ser2648Thr) c.7867T>A (p.Ser2623Thr) c.7765T>A (p.Ser2589Thr) c.7396T>A (p.Ser2466Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843839T>C | CA16039223 | APC | c.8299T>C (p.Ser2767Pro) c.*8251T>C (n.*8251T>C) c.8191T>C (p.Ser2731Pro) c.8245T>C (p.Ser2749Pro) c.231-12810T>C c.8275T>C (p.Ser2759Pro) c.8170T>C (p.Ser2724Pro) c.8161T>C (p.Ser2721Pro) c.8122T>C (p.Ser2708Pro) c.8068T>C (p.Ser2690Pro) c.7972T>C (p.Ser2658Pro) c.7942T>C (p.Ser2648Pro) c.7867T>C (p.Ser2623Pro) c.7765T>C (p.Ser2589Pro) c.7396T>C (p.Ser2466Pro) | |
| 5 | g.112843839T>G | CA16039224 | APC | c.8299T>G (p.Ser2767Ala) c.*8251T>G (n.*8251T>G) c.8191T>G (p.Ser2731Ala) c.8245T>G (p.Ser2749Ala) c.231-12810T>G c.8275T>G (p.Ser2759Ala) c.8170T>G (p.Ser2724Ala) c.8161T>G (p.Ser2721Ala) c.8122T>G (p.Ser2708Ala) c.8068T>G (p.Ser2690Ala) c.7972T>G (p.Ser2658Ala) c.7942T>G (p.Ser2648Ala) c.7867T>G (p.Ser2623Ala) c.7765T>G (p.Ser2589Ala) c.7396T>G (p.Ser2466Ala) | |
| 5 | g.112843839T= | CA1573477107 | APC | c.8299T= (p.Ser2767=) c.*8251T= (n.*8251T=) c.8191T= (p.Ser2731=) c.8245T= (p.Ser2749=) c.231-12810T= c.8275T= (p.Ser2759=) c.8170T= (p.Ser2724=) c.8161T= (p.Ser2721=) c.8122T= (p.Ser2708=) c.8068T= (p.Ser2690=) c.7972T= (p.Ser2658=) c.7942T= (p.Ser2648=) c.7867T= (p.Ser2623=) c.7765T= (p.Ser2589=) c.7396T= (p.Ser2466=) | |
| 5 | g.112843840C>A | CA16039225 | APC | c.8300C>A (p.Ser2767Ter) c.*8252C>A (n.*8252C>A) c.8192C>A (p.Ser2731Ter) c.8246C>A (p.Ser2749Ter) c.231-12809C>A c.8276C>A (p.Ser2759Ter) c.8171C>A (p.Ser2724Ter) c.8162C>A (p.Ser2721Ter) c.8123C>A (p.Ser2708Ter) c.8069C>A (p.Ser2690Ter) c.7973C>A (p.Ser2658Ter) c.7943C>A (p.Ser2648Ter) c.7868C>A (p.Ser2623Ter) c.7766C>A (p.Ser2589Ter) c.7397C>A (p.Ser2466Ter) | dbSNP |
| 5 | g.112843840C= | CA1573477113 | APC | c.8300C= (p.Ser2767=) c.*8252C= (n.*8252C=) c.8192C= (p.Ser2731=) c.8246C= (p.Ser2749=) c.231-12809C= c.8276C= (p.Ser2759=) c.8171C= (p.Ser2724=) c.8162C= (p.Ser2721=) c.8123C= (p.Ser2708=) c.8069C= (p.Ser2690=) c.7973C= (p.Ser2658=) c.7943C= (p.Ser2648=) c.7868C= (p.Ser2623=) c.7766C= (p.Ser2589=) c.7397C= (p.Ser2466=) | |
| 5 | g.112843840C>G | CA16039226 | APC | c.8300C>G (p.Ser2767Ter) c.*8252C>G (n.*8252C>G) c.8192C>G (p.Ser2731Ter) c.8246C>G (p.Ser2749Ter) c.231-12809C>G c.8276C>G (p.Ser2759Ter) c.8171C>G (p.Ser2724Ter) c.8162C>G (p.Ser2721Ter) c.8123C>G (p.Ser2708Ter) c.8069C>G (p.Ser2690Ter) c.7973C>G (p.Ser2658Ter) c.7943C>G (p.Ser2648Ter) c.7868C>G (p.Ser2623Ter) c.7766C>G (p.Ser2589Ter) c.7397C>G (p.Ser2466Ter) | ClinVar dbSNP |
| 5 | g.112843840C>T | CA16039227 | APC | c.8300C>T (p.Ser2767Leu) c.*8252C>T (n.*8252C>T) c.8192C>T (p.Ser2731Leu) c.8246C>T (p.Ser2749Leu) c.231-12809C>T c.8276C>T (p.Ser2759Leu) c.8171C>T (p.Ser2724Leu) c.8162C>T (p.Ser2721Leu) c.8123C>T (p.Ser2708Leu) c.8069C>T (p.Ser2690Leu) c.7973C>T (p.Ser2658Leu) c.7943C>T (p.Ser2648Leu) c.7868C>T (p.Ser2623Leu) c.7766C>T (p.Ser2589Leu) c.7397C>T (p.Ser2466Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843841A= | CA1573477131 | APC | c.8301A= (p.Ser2767=) c.*8253A= (n.*8253A=) c.8193A= (p.Ser2731=) c.8247A= (p.Ser2749=) c.231-12808A= c.8277A= (p.Ser2759=) c.8172A= (p.Ser2724=) c.8163A= (p.Ser2721=) c.8124A= (p.Ser2708=) c.8070A= (p.Ser2690=) c.7974A= (p.Ser2658=) c.7944A= (p.Ser2648=) c.7869A= (p.Ser2623=) c.7767A= (p.Ser2589=) c.7398A= (p.Ser2466=) | |
| 5 | g.112843841A>C | CA446211350 | APC | c.8301A>C (p.Ser2767=) c.*8253A>C (n.*8253A>C) c.8193A>C (p.Ser2731=) c.8247A>C (p.Ser2749=) c.231-12808A>C c.8277A>C (p.Ser2759=) c.8172A>C (p.Ser2724=) c.8163A>C (p.Ser2721=) c.8124A>C (p.Ser2708=) c.8070A>C (p.Ser2690=) c.7974A>C (p.Ser2658=) c.7944A>C (p.Ser2648=) c.7869A>C (p.Ser2623=) c.7767A>C (p.Ser2589=) c.7398A>C (p.Ser2466=) | |
| 5 | g.112843841A>G | CA446211351 | APC | c.8301A>G (p.Ser2767=) c.*8253A>G (n.*8253A>G) c.8193A>G (p.Ser2731=) c.8247A>G (p.Ser2749=) c.231-12808A>G c.8277A>G (p.Ser2759=) c.8172A>G (p.Ser2724=) c.8163A>G (p.Ser2721=) c.8124A>G (p.Ser2708=) c.8070A>G (p.Ser2690=) c.7974A>G (p.Ser2658=) c.7944A>G (p.Ser2648=) c.7869A>G (p.Ser2623=) c.7767A>G (p.Ser2589=) c.7398A>G (p.Ser2466=) | ClinVar dbSNP COSMIC |
| 5 | g.112843841A>T | CA125167824 | APC | c.8301A>T (p.Ser2767=) c.*8253A>T (n.*8253A>T) c.8193A>T (p.Ser2731=) c.8247A>T (p.Ser2749=) c.231-12808A>T c.8277A>T (p.Ser2759=) c.8172A>T (p.Ser2724=) c.8163A>T (p.Ser2721=) c.8124A>T (p.Ser2708=) c.8070A>T (p.Ser2690=) c.7974A>T (p.Ser2658=) c.7944A>T (p.Ser2648=) c.7869A>T (p.Ser2623=) c.7767A>T (p.Ser2589=) c.7398A>T (p.Ser2466=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843841_112843842delinsAG | CA1573477127 | APC | c.8301_8302delinsAG (p.Ser2767=) c.*8253_*8254delinsAG (n.*8253_*8254delinsAG) c.8193_8194delinsAG (p.Ser2731=) c.8247_8248delinsAG (p.Ser2749=) c.231-12808_231-12807delinsAG c.8277_8278delinsAG (p.Ser2759=) c.8172_8173delinsAG (p.Ser2724=) c.8163_8164delinsAG (p.Ser2721=) c.8124_8125delinsAG (p.Ser2708=) c.8070_8071delinsAG (p.Ser2690=) c.7974_7975delinsAG (p.Ser2658=) c.7944_7945delinsAG (p.Ser2648=) c.7869_7870delinsAG (p.Ser2623=) c.7767_7768delinsAG (p.Ser2589=) c.7398_7399delinsAG (p.Ser2466=) | |
| 5 | g.112843841_112843842delinsTA | CA014471 | APC | c.8301_8302delinsTA (p.Glu2768Lys) c.*8253_*8254delinsTA (n.*8253_*8254delinsTA) c.8193_8194delinsTA (p.Glu2732Lys) c.8247_8248delinsTA (p.Glu2750Lys) c.231-12808_231-12807delinsTA c.8277_8278delinsTA (p.Glu2760Lys) c.8172_8173delinsTA (p.Glu2725Lys) c.8163_8164delinsTA (p.Glu2722Lys) c.8124_8125delinsTA (p.Glu2709Lys) c.8070_8071delinsTA (p.Glu2691Lys) c.7974_7975delinsTA (p.Glu2659Lys) c.7944_7945delinsTA (p.Glu2649Lys) c.7869_7870delinsTA (p.Glu2624Lys) c.7767_7768delinsTA (p.Glu2590Lys) c.7398_7399delinsTA (p.Glu2467Lys) | ClinVar dbSNP |
| 5 | g.112843842G>A | CA16039228 | APC | c.8302G>A (p.Glu2768Lys) c.*8254G>A (n.*8254G>A) c.8194G>A (p.Glu2732Lys) c.8248G>A (p.Glu2750Lys) c.231-12807G>A c.8278G>A (p.Glu2760Lys) c.8173G>A (p.Glu2725Lys) c.8164G>A (p.Glu2722Lys) c.8125G>A (p.Glu2709Lys) c.8071G>A (p.Glu2691Lys) c.7975G>A (p.Glu2659Lys) c.7945G>A (p.Glu2649Lys) c.7870G>A (p.Glu2624Lys) c.7768G>A (p.Glu2590Lys) c.7399G>A (p.Glu2467Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843842G>C | CA16039229 | APC | c.8302G>C (p.Glu2768Gln) c.*8254G>C (n.*8254G>C) c.8194G>C (p.Glu2732Gln) c.8248G>C (p.Glu2750Gln) c.231-12807G>C c.8278G>C (p.Glu2760Gln) c.8173G>C (p.Glu2725Gln) c.8164G>C (p.Glu2722Gln) c.8125G>C (p.Glu2709Gln) c.8071G>C (p.Glu2691Gln) c.7975G>C (p.Glu2659Gln) c.7945G>C (p.Glu2649Gln) c.7870G>C (p.Glu2624Gln) c.7768G>C (p.Glu2590Gln) c.7399G>C (p.Glu2467Gln) | dbSNP |