| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112843720G>A | CA16038983 | APC | c.8180G>A (p.Gly2727Asp) c.*8132G>A (n.*8132G>A) c.8072G>A (p.Gly2691Asp) c.8126G>A (p.Gly2709Asp) c.231-12929G>A c.8156G>A (p.Gly2719Asp) c.8051G>A (p.Gly2684Asp) c.8042G>A (p.Gly2681Asp) c.8003G>A (p.Gly2668Asp) c.7949G>A (p.Gly2650Asp) c.7853G>A (p.Gly2618Asp) c.7823G>A (p.Gly2608Asp) c.7748G>A (p.Gly2583Asp) c.7646G>A (p.Gly2549Asp) c.7277G>A (p.Gly2426Asp) | ClinVar dbSNP |
| 5 | g.112843720G>C | CA16038984 | APC | c.8180G>C (p.Gly2727Ala) c.*8132G>C (n.*8132G>C) c.8072G>C (p.Gly2691Ala) c.8126G>C (p.Gly2709Ala) c.231-12929G>C c.8156G>C (p.Gly2719Ala) c.8051G>C (p.Gly2684Ala) c.8042G>C (p.Gly2681Ala) c.8003G>C (p.Gly2668Ala) c.7949G>C (p.Gly2650Ala) c.7853G>C (p.Gly2618Ala) c.7823G>C (p.Gly2608Ala) c.7748G>C (p.Gly2583Ala) c.7646G>C (p.Gly2549Ala) c.7277G>C (p.Gly2426Ala) | dbSNP |
| 5 | g.112843720G= | CA1573476212 | APC | c.8180G= (p.Gly2727=) c.*8132G= (n.*8132G=) c.8072G= (p.Gly2691=) c.8126G= (p.Gly2709=) c.231-12929G= c.8156G= (p.Gly2719=) c.8051G= (p.Gly2684=) c.8042G= (p.Gly2681=) c.8003G= (p.Gly2668=) c.7949G= (p.Gly2650=) c.7853G= (p.Gly2618=) c.7823G= (p.Gly2608=) c.7748G= (p.Gly2583=) c.7646G= (p.Gly2549=) c.7277G= (p.Gly2426=) | |
| 5 | g.112843720G>T | CA16038985 | APC | c.8180G>T (p.Gly2727Val) c.*8132G>T (n.*8132G>T) c.8072G>T (p.Gly2691Val) c.8126G>T (p.Gly2709Val) c.231-12929G>T c.8156G>T (p.Gly2719Val) c.8051G>T (p.Gly2684Val) c.8042G>T (p.Gly2681Val) c.8003G>T (p.Gly2668Val) c.7949G>T (p.Gly2650Val) c.7853G>T (p.Gly2618Val) c.7823G>T (p.Gly2608Val) c.7748G>T (p.Gly2583Val) c.7646G>T (p.Gly2549Val) c.7277G>T (p.Gly2426Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112843721C>A | CA446211190 | APC | c.8181C>A (p.Gly2727=) c.*8133C>A (n.*8133C>A) c.8073C>A (p.Gly2691=) c.8127C>A (p.Gly2709=) c.231-12928C>A c.8157C>A (p.Gly2719=) c.8052C>A (p.Gly2684=) c.8043C>A (p.Gly2681=) c.8004C>A (p.Gly2668=) c.7950C>A (p.Gly2650=) c.7854C>A (p.Gly2618=) c.7824C>A (p.Gly2608=) c.7749C>A (p.Gly2583=) c.7647C>A (p.Gly2549=) c.7278C>A (p.Gly2426=) | dbSNP |
| 5 | g.112843721C= | CA1573476223 | APC | c.8181C= (p.Gly2727=) c.*8133C= (n.*8133C=) c.8073C= (p.Gly2691=) c.8127C= (p.Gly2709=) c.231-12928C= c.8157C= (p.Gly2719=) c.8052C= (p.Gly2684=) c.8043C= (p.Gly2681=) c.8004C= (p.Gly2668=) c.7950C= (p.Gly2650=) c.7854C= (p.Gly2618=) c.7824C= (p.Gly2608=) c.7749C= (p.Gly2583=) c.7647C= (p.Gly2549=) c.7278C= (p.Gly2426=) | |
| 5 | g.112843721C>G | CA16611678 | APC | c.8181C>G (p.Gly2727=) c.*8133C>G (n.*8133C>G) c.8073C>G (p.Gly2691=) c.8127C>G (p.Gly2709=) c.231-12928C>G c.8157C>G (p.Gly2719=) c.8052C>G (p.Gly2684=) c.8043C>G (p.Gly2681=) c.8004C>G (p.Gly2668=) c.7950C>G (p.Gly2650=) c.7854C>G (p.Gly2618=) c.7824C>G (p.Gly2608=) c.7749C>G (p.Gly2583=) c.7647C>G (p.Gly2549=) c.7278C>G (p.Gly2426=) | ClinVar dbSNP |
| 5 | g.112843721C>T | CA446211192 | APC | c.8181C>T (p.Gly2727=) c.*8133C>T (n.*8133C>T) c.8073C>T (p.Gly2691=) c.8127C>T (p.Gly2709=) c.231-12928C>T c.8157C>T (p.Gly2719=) c.8052C>T (p.Gly2684=) c.8043C>T (p.Gly2681=) c.8004C>T (p.Gly2668=) c.7950C>T (p.Gly2650=) c.7854C>T (p.Gly2618=) c.7824C>T (p.Gly2608=) c.7749C>T (p.Gly2583=) c.7647C>T (p.Gly2549=) c.7278C>T (p.Gly2426=) | ClinVar dbSNP |
| 5 | g.112843722A= | CA1573476252 | APC | c.8182A= (p.Ser2728=) c.*8134A= (n.*8134A=) c.8074A= (p.Ser2692=) c.8128A= (p.Ser2710=) c.231-12927A= c.8158A= (p.Ser2720=) c.8053A= (p.Ser2685=) c.8044A= (p.Ser2682=) c.8005A= (p.Ser2669=) c.7951A= (p.Ser2651=) c.7855A= (p.Ser2619=) c.7825A= (p.Ser2609=) c.7750A= (p.Ser2584=) c.7648A= (p.Ser2550=) c.7279A= (p.Ser2427=) | |
| 5 | g.112843722A>C | CA049954 | APC | c.8182A>C (p.Ser2728Arg) c.*8134A>C (n.*8134A>C) c.8074A>C (p.Ser2692Arg) c.8128A>C (p.Ser2710Arg) c.231-12927A>C c.8158A>C (p.Ser2720Arg) c.8053A>C (p.Ser2685Arg) c.8044A>C (p.Ser2682Arg) c.8005A>C (p.Ser2669Arg) c.7951A>C (p.Ser2651Arg) c.7855A>C (p.Ser2619Arg) c.7825A>C (p.Ser2609Arg) c.7750A>C (p.Ser2584Arg) c.7648A>C (p.Ser2550Arg) c.7279A>C (p.Ser2427Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112843722A>G | CA16038986 | APC | c.8182A>G (p.Ser2728Gly) c.*8134A>G (n.*8134A>G) c.8074A>G (p.Ser2692Gly) c.8128A>G (p.Ser2710Gly) c.231-12927A>G c.8158A>G (p.Ser2720Gly) c.8053A>G (p.Ser2685Gly) c.8044A>G (p.Ser2682Gly) c.8005A>G (p.Ser2669Gly) c.7951A>G (p.Ser2651Gly) c.7855A>G (p.Ser2619Gly) c.7825A>G (p.Ser2609Gly) c.7750A>G (p.Ser2584Gly) c.7648A>G (p.Ser2550Gly) c.7279A>G (p.Ser2427Gly) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843722A>T | CA16038987 | APC | c.8182A>T (p.Ser2728Cys) c.*8134A>T (n.*8134A>T) c.8074A>T (p.Ser2692Cys) c.8128A>T (p.Ser2710Cys) c.231-12927A>T c.8158A>T (p.Ser2720Cys) c.8053A>T (p.Ser2685Cys) c.8044A>T (p.Ser2682Cys) c.8005A>T (p.Ser2669Cys) c.7951A>T (p.Ser2651Cys) c.7855A>T (p.Ser2619Cys) c.7825A>T (p.Ser2609Cys) c.7750A>T (p.Ser2584Cys) c.7648A>T (p.Ser2550Cys) c.7279A>T (p.Ser2427Cys) | dbSNP |
| 5 | g.112843723G>A | CA16038988 | APC | c.8183G>A (p.Ser2728Asn) c.*8135G>A (n.*8135G>A) c.8075G>A (p.Ser2692Asn) c.8129G>A (p.Ser2710Asn) c.231-12926G>A c.8159G>A (p.Ser2720Asn) c.8054G>A (p.Ser2685Asn) c.8045G>A (p.Ser2682Asn) c.8006G>A (p.Ser2669Asn) c.7952G>A (p.Ser2651Asn) c.7856G>A (p.Ser2619Asn) c.7826G>A (p.Ser2609Asn) c.7751G>A (p.Ser2584Asn) c.7649G>A (p.Ser2550Asn) c.7280G>A (p.Ser2427Asn) | ClinVar dbSNP |
| 5 | g.112843723G>C | CA16038989 | APC | c.8183G>C (p.Ser2728Thr) c.*8135G>C (n.*8135G>C) c.8075G>C (p.Ser2692Thr) c.8129G>C (p.Ser2710Thr) c.231-12926G>C c.8159G>C (p.Ser2720Thr) c.8054G>C (p.Ser2685Thr) c.8045G>C (p.Ser2682Thr) c.8006G>C (p.Ser2669Thr) c.7952G>C (p.Ser2651Thr) c.7856G>C (p.Ser2619Thr) c.7826G>C (p.Ser2609Thr) c.7751G>C (p.Ser2584Thr) c.7649G>C (p.Ser2550Thr) c.7280G>C (p.Ser2427Thr) | dbSNP |
| 5 | g.112843723G= | CA1573476260 | APC | c.8183G= (p.Ser2728=) c.*8135G= (n.*8135G=) c.8075G= (p.Ser2692=) c.8129G= (p.Ser2710=) c.231-12926G= c.8159G= (p.Ser2720=) c.8054G= (p.Ser2685=) c.8045G= (p.Ser2682=) c.8006G= (p.Ser2669=) c.7952G= (p.Ser2651=) c.7856G= (p.Ser2619=) c.7826G= (p.Ser2609=) c.7751G= (p.Ser2584=) c.7649G= (p.Ser2550=) c.7280G= (p.Ser2427=) | |
| 5 | g.112843723G>T | CA16038990 | APC | c.8183G>T (p.Ser2728Ile) c.*8135G>T (n.*8135G>T) c.8075G>T (p.Ser2692Ile) c.8129G>T (p.Ser2710Ile) c.231-12926G>T c.8159G>T (p.Ser2720Ile) c.8054G>T (p.Ser2685Ile) c.8045G>T (p.Ser2682Ile) c.8006G>T (p.Ser2669Ile) c.7952G>T (p.Ser2651Ile) c.7856G>T (p.Ser2619Ile) c.7826G>T (p.Ser2609Ile) c.7751G>T (p.Ser2584Ile) c.7649G>T (p.Ser2550Ile) c.7280G>T (p.Ser2427Ile) | gnomAD v4 |
| 5 | g.112843724T>A | CA16038991 | APC | c.8184T>A (p.Ser2728Arg) c.*8136T>A (n.*8136T>A) c.8076T>A (p.Ser2692Arg) c.8130T>A (p.Ser2710Arg) c.231-12925T>A c.8160T>A (p.Ser2720Arg) c.8055T>A (p.Ser2685Arg) c.8046T>A (p.Ser2682Arg) c.8007T>A (p.Ser2669Arg) c.7953T>A (p.Ser2651Arg) c.7857T>A (p.Ser2619Arg) c.7827T>A (p.Ser2609Arg) c.7752T>A (p.Ser2584Arg) c.7650T>A (p.Ser2550Arg) c.7281T>A (p.Ser2427Arg) | dbSNP |
| 5 | g.112843724T>C | CA446211194 | APC | c.8184T>C (p.Ser2728=) c.*8136T>C (n.*8136T>C) c.8076T>C (p.Ser2692=) c.8130T>C (p.Ser2710=) c.231-12925T>C c.8160T>C (p.Ser2720=) c.8055T>C (p.Ser2685=) c.8046T>C (p.Ser2682=) c.8007T>C (p.Ser2669=) c.7953T>C (p.Ser2651=) c.7857T>C (p.Ser2619=) c.7827T>C (p.Ser2609=) c.7752T>C (p.Ser2584=) c.7650T>C (p.Ser2550=) c.7281T>C (p.Ser2427=) | gnomAD v4 |
| 5 | g.112843724T>G | CA014355 | APC | c.8184T>G (p.Ser2728Arg) c.*8136T>G (n.*8136T>G) c.8076T>G (p.Ser2692Arg) c.8130T>G (p.Ser2710Arg) c.231-12925T>G c.8160T>G (p.Ser2720Arg) c.8055T>G (p.Ser2685Arg) c.8046T>G (p.Ser2682Arg) c.8007T>G (p.Ser2669Arg) c.7953T>G (p.Ser2651Arg) c.7857T>G (p.Ser2619Arg) c.7827T>G (p.Ser2609Arg) c.7752T>G (p.Ser2584Arg) c.7650T>G (p.Ser2550Arg) c.7281T>G (p.Ser2427Arg) | ClinVar dbSNP |
| 5 | g.112843724T= | CA1573476271 | APC | c.8184T= (p.Ser2728=) c.*8136T= (n.*8136T=) c.8076T= (p.Ser2692=) c.8130T= (p.Ser2710=) c.231-12925T= c.8160T= (p.Ser2720=) c.8055T= (p.Ser2685=) c.8046T= (p.Ser2682=) c.8007T= (p.Ser2669=) c.7953T= (p.Ser2651=) c.7857T= (p.Ser2619=) c.7827T= (p.Ser2609=) c.7752T= (p.Ser2584=) c.7650T= (p.Ser2550=) c.7281T= (p.Ser2427=) | |
| 5 | g.112843725G>A | CA16038992 | APC | c.8185G>A (p.Val2729Ile) c.*8137G>A (n.*8137G>A) c.8077G>A (p.Val2693Ile) c.8131G>A (p.Val2711Ile) c.231-12924G>A c.8161G>A (p.Val2721Ile) c.8056G>A (p.Val2686Ile) c.8047G>A (p.Val2683Ile) c.8008G>A (p.Val2670Ile) c.7954G>A (p.Val2652Ile) c.7858G>A (p.Val2620Ile) c.7828G>A (p.Val2610Ile) c.7753G>A (p.Val2585Ile) c.7651G>A (p.Val2551Ile) c.7282G>A (p.Val2428Ile) | dbSNP |
| 5 | g.112843725G>C | CA16038993 | APC | c.8185G>C (p.Val2729Leu) c.*8137G>C (n.*8137G>C) c.8077G>C (p.Val2693Leu) c.8131G>C (p.Val2711Leu) c.231-12924G>C c.8161G>C (p.Val2721Leu) c.8056G>C (p.Val2686Leu) c.8047G>C (p.Val2683Leu) c.8008G>C (p.Val2670Leu) c.7954G>C (p.Val2652Leu) c.7858G>C (p.Val2620Leu) c.7828G>C (p.Val2610Leu) c.7753G>C (p.Val2585Leu) c.7651G>C (p.Val2551Leu) c.7282G>C (p.Val2428Leu) | ClinVar |
| 5 | g.112843725G= | CA1573476281 | APC | c.8185G= (p.Val2729=) c.*8137G= (n.*8137G=) c.8077G= (p.Val2693=) c.8131G= (p.Val2711=) c.231-12924G= c.8161G= (p.Val2721=) c.8056G= (p.Val2686=) c.8047G= (p.Val2683=) c.8008G= (p.Val2670=) c.7954G= (p.Val2652=) c.7858G= (p.Val2620=) c.7828G= (p.Val2610=) c.7753G= (p.Val2585=) c.7651G= (p.Val2551=) c.7282G= (p.Val2428=) | |
| 5 | g.112843725G>T | CA16038994 | APC | c.8185G>T (p.Val2729Phe) c.*8137G>T (n.*8137G>T) c.8077G>T (p.Val2693Phe) c.8131G>T (p.Val2711Phe) c.231-12924G>T c.8161G>T (p.Val2721Phe) c.8056G>T (p.Val2686Phe) c.8047G>T (p.Val2683Phe) c.8008G>T (p.Val2670Phe) c.7954G>T (p.Val2652Phe) c.7858G>T (p.Val2620Phe) c.7828G>T (p.Val2610Phe) c.7753G>T (p.Val2585Phe) c.7651G>T (p.Val2551Phe) c.7282G>T (p.Val2428Phe) | ClinVar dbSNP |
| 5 | g.112843726T>A | CA16038995 | APC | c.8186T>A (p.Val2729Asp) c.*8138T>A (n.*8138T>A) c.8078T>A (p.Val2693Asp) c.8132T>A (p.Val2711Asp) c.231-12923T>A c.8162T>A (p.Val2721Asp) c.8057T>A (p.Val2686Asp) c.8048T>A (p.Val2683Asp) c.8009T>A (p.Val2670Asp) c.7955T>A (p.Val2652Asp) c.7859T>A (p.Val2620Asp) c.7829T>A (p.Val2610Asp) c.7754T>A (p.Val2585Asp) c.7652T>A (p.Val2551Asp) c.7283T>A (p.Val2428Asp) | ClinVar dbSNP |
| 5 | g.112843726T>C | CA16038996 | APC | c.8186T>C (p.Val2729Ala) c.*8138T>C (n.*8138T>C) c.8078T>C (p.Val2693Ala) c.8132T>C (p.Val2711Ala) c.231-12923T>C c.8162T>C (p.Val2721Ala) c.8057T>C (p.Val2686Ala) c.8048T>C (p.Val2683Ala) c.8009T>C (p.Val2670Ala) c.7955T>C (p.Val2652Ala) c.7859T>C (p.Val2620Ala) c.7829T>C (p.Val2610Ala) c.7754T>C (p.Val2585Ala) c.7652T>C (p.Val2551Ala) c.7283T>C (p.Val2428Ala) | ClinVar dbSNP |
| 5 | g.112843726T>G | CA16038997 | APC | c.8186T>G (p.Val2729Gly) c.*8138T>G (n.*8138T>G) c.8078T>G (p.Val2693Gly) c.8132T>G (p.Val2711Gly) c.231-12923T>G c.8162T>G (p.Val2721Gly) c.8057T>G (p.Val2686Gly) c.8048T>G (p.Val2683Gly) c.8009T>G (p.Val2670Gly) c.7955T>G (p.Val2652Gly) c.7859T>G (p.Val2620Gly) c.7829T>G (p.Val2610Gly) c.7754T>G (p.Val2585Gly) c.7652T>G (p.Val2551Gly) c.7283T>G (p.Val2428Gly) | dbSNP |
| 5 | g.112843727T>A | CA446211198 | APC | c.8187T>A (p.Val2729=) c.*8139T>A (n.*8139T>A) c.8079T>A (p.Val2693=) c.8133T>A (p.Val2711=) c.231-12922T>A c.8163T>A (p.Val2721=) c.8058T>A (p.Val2686=) c.8049T>A (p.Val2683=) c.8010T>A (p.Val2670=) c.7956T>A (p.Val2652=) c.7860T>A (p.Val2620=) c.7830T>A (p.Val2610=) c.7755T>A (p.Val2585=) c.7653T>A (p.Val2551=) c.7284T>A (p.Val2428=) | |
| 5 | g.112843727T>C | CA446211199 | APC | c.8187T>C (p.Val2729=) c.*8139T>C (n.*8139T>C) c.8079T>C (p.Val2693=) c.8133T>C (p.Val2711=) c.231-12922T>C c.8163T>C (p.Val2721=) c.8058T>C (p.Val2686=) c.8049T>C (p.Val2683=) c.8010T>C (p.Val2670=) c.7956T>C (p.Val2652=) c.7860T>C (p.Val2620=) c.7830T>C (p.Val2610=) c.7755T>C (p.Val2585=) c.7653T>C (p.Val2551=) c.7284T>C (p.Val2428=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843727T>G | CA446211201 | APC | c.8187T>G (p.Val2729=) c.*8139T>G (n.*8139T>G) c.8079T>G (p.Val2693=) c.8133T>G (p.Val2711=) c.231-12922T>G c.8163T>G (p.Val2721=) c.8058T>G (p.Val2686=) c.8049T>G (p.Val2683=) c.8010T>G (p.Val2670=) c.7956T>G (p.Val2652=) c.7860T>G (p.Val2620=) c.7830T>G (p.Val2610=) c.7755T>G (p.Val2585=) c.7653T>G (p.Val2551=) c.7284T>G (p.Val2428=) | |
| 5 | g.112843727T= | CA1573476286 | APC | c.8187T= (p.Val2729=) c.*8139T= (n.*8139T=) c.8079T= (p.Val2693=) c.8133T= (p.Val2711=) c.231-12922T= c.8163T= (p.Val2721=) c.8058T= (p.Val2686=) c.8049T= (p.Val2683=) c.8010T= (p.Val2670=) c.7956T= (p.Val2652=) c.7860T= (p.Val2620=) c.7830T= (p.Val2610=) c.7755T= (p.Val2585=) c.7653T= (p.Val2551=) c.7284T= (p.Val2428=) | |
| 5 | g.112843728C>A | CA16038998 | APC | c.8188C>A (p.Pro2730Thr) c.*8140C>A (n.*8140C>A) c.8080C>A (p.Pro2694Thr) c.8134C>A (p.Pro2712Thr) c.231-12921C>A c.8164C>A (p.Pro2722Thr) c.8059C>A (p.Pro2687Thr) c.8050C>A (p.Pro2684Thr) c.8011C>A (p.Pro2671Thr) c.7957C>A (p.Pro2653Thr) c.7861C>A (p.Pro2621Thr) c.7831C>A (p.Pro2611Thr) c.7756C>A (p.Pro2586Thr) c.7654C>A (p.Pro2552Thr) c.7285C>A (p.Pro2429Thr) | dbSNP |
| 5 | g.112843728C= | CA1573476292 | APC | c.8188C= (p.Pro2730=) c.*8140C= (n.*8140C=) c.8080C= (p.Pro2694=) c.8134C= (p.Pro2712=) c.231-12921C= c.8164C= (p.Pro2722=) c.8059C= (p.Pro2687=) c.8050C= (p.Pro2684=) c.8011C= (p.Pro2671=) c.7957C= (p.Pro2653=) c.7861C= (p.Pro2621=) c.7831C= (p.Pro2611=) c.7756C= (p.Pro2586=) c.7654C= (p.Pro2552=) c.7285C= (p.Pro2429=) | |
| 5 | g.112843728C>G | CA049967 | APC | c.8188C>G (p.Pro2730Ala) c.*8140C>G (n.*8140C>G) c.8080C>G (p.Pro2694Ala) c.8134C>G (p.Pro2712Ala) c.231-12921C>G c.8164C>G (p.Pro2722Ala) c.8059C>G (p.Pro2687Ala) c.8050C>G (p.Pro2684Ala) c.8011C>G (p.Pro2671Ala) c.7957C>G (p.Pro2653Ala) c.7861C>G (p.Pro2621Ala) c.7831C>G (p.Pro2611Ala) c.7756C>G (p.Pro2586Ala) c.7654C>G (p.Pro2552Ala) c.7285C>G (p.Pro2429Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112843728C>T | CA014364 | APC | c.8188C>T (p.Pro2730Ser) c.*8140C>T (n.*8140C>T) c.8080C>T (p.Pro2694Ser) c.8134C>T (p.Pro2712Ser) c.231-12921C>T c.8164C>T (p.Pro2722Ser) c.8059C>T (p.Pro2687Ser) c.8050C>T (p.Pro2684Ser) c.8011C>T (p.Pro2671Ser) c.7957C>T (p.Pro2653Ser) c.7861C>T (p.Pro2621Ser) c.7831C>T (p.Pro2611Ser) c.7756C>T (p.Pro2586Ser) c.7654C>T (p.Pro2552Ser) c.7285C>T (p.Pro2429Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112843730del | CA2580610693 | APC | c.8190del (p.Met2731CysfsTer10) c.*8142del (n.*8142del) c.8082del (p.Met2695CysfsTer10) c.8136del (p.Met2713CysfsTer10) c.231-12919del c.8166del (p.Met2723CysfsTer10) c.8061del (p.Met2688CysfsTer10) c.8052del (p.Met2685CysfsTer10) c.8013del (p.Met2672CysfsTer10) c.7959del (p.Met2654CysfsTer10) c.7863del (p.Met2622CysfsTer10) c.7833del (p.Met2612CysfsTer10) c.7758del (p.Met2587CysfsTer10) c.7656del (p.Met2553CysfsTer10) c.7287del (p.Met2430CysfsTer10) | |
| 5 | g.112843729C>A | CA16038999 | APC | c.8189C>A (p.Pro2730His) c.*8141C>A (n.*8141C>A) c.8081C>A (p.Pro2694His) c.8135C>A (p.Pro2712His) c.231-12920C>A c.8165C>A (p.Pro2722His) c.8060C>A (p.Pro2687His) c.8051C>A (p.Pro2684His) c.8012C>A (p.Pro2671His) c.7958C>A (p.Pro2653His) c.7862C>A (p.Pro2621His) c.7832C>A (p.Pro2611His) c.7757C>A (p.Pro2586His) c.7655C>A (p.Pro2552His) c.7286C>A (p.Pro2429His) | dbSNP |
| 5 | g.112843729C= | CA1573476297 | APC | c.8189C= (p.Pro2730=) c.*8141C= (n.*8141C=) c.8081C= (p.Pro2694=) c.8135C= (p.Pro2712=) c.231-12920C= c.8165C= (p.Pro2722=) c.8060C= (p.Pro2687=) c.8051C= (p.Pro2684=) c.8012C= (p.Pro2671=) c.7958C= (p.Pro2653=) c.7862C= (p.Pro2621=) c.7832C= (p.Pro2611=) c.7757C= (p.Pro2586=) c.7655C= (p.Pro2552=) c.7286C= (p.Pro2429=) | |
| 5 | g.112843729C>G | CA16039000 | APC | c.8189C>G (p.Pro2730Arg) c.*8141C>G (n.*8141C>G) c.8081C>G (p.Pro2694Arg) c.8135C>G (p.Pro2712Arg) c.231-12920C>G c.8165C>G (p.Pro2722Arg) c.8060C>G (p.Pro2687Arg) c.8051C>G (p.Pro2684Arg) c.8012C>G (p.Pro2671Arg) c.7958C>G (p.Pro2653Arg) c.7862C>G (p.Pro2621Arg) c.7832C>G (p.Pro2611Arg) c.7757C>G (p.Pro2586Arg) c.7655C>G (p.Pro2552Arg) c.7286C>G (p.Pro2429Arg) | dbSNP |
| 5 | g.112843729C>T | CA16039001 | APC | c.8189C>T (p.Pro2730Leu) c.*8141C>T (n.*8141C>T) c.8081C>T (p.Pro2694Leu) c.8135C>T (p.Pro2712Leu) c.231-12920C>T c.8165C>T (p.Pro2722Leu) c.8060C>T (p.Pro2687Leu) c.8051C>T (p.Pro2684Leu) c.8012C>T (p.Pro2671Leu) c.7958C>T (p.Pro2653Leu) c.7862C>T (p.Pro2621Leu) c.7832C>T (p.Pro2611Leu) c.7757C>T (p.Pro2586Leu) c.7655C>T (p.Pro2552Leu) c.7286C>T (p.Pro2429Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843730C>A | CA446211203 | APC | c.8190C>A (p.Pro2730=) c.*8142C>A (n.*8142C>A) c.8082C>A (p.Pro2694=) c.8136C>A (p.Pro2712=) c.231-12919C>A c.8166C>A (p.Pro2722=) c.8061C>A (p.Pro2687=) c.8052C>A (p.Pro2684=) c.8013C>A (p.Pro2671=) c.7959C>A (p.Pro2653=) c.7863C>A (p.Pro2621=) c.7833C>A (p.Pro2611=) c.7758C>A (p.Pro2586=) c.7656C>A (p.Pro2552=) c.7287C>A (p.Pro2429=) | dbSNP |
| 5 | g.112843730C>G | CA446211204 | APC | c.8190C>G (p.Pro2730=) c.*8142C>G (n.*8142C>G) c.8082C>G (p.Pro2694=) c.8136C>G (p.Pro2712=) c.231-12919C>G c.8166C>G (p.Pro2722=) c.8061C>G (p.Pro2687=) c.8052C>G (p.Pro2684=) c.8013C>G (p.Pro2671=) c.7959C>G (p.Pro2653=) c.7863C>G (p.Pro2621=) c.7833C>G (p.Pro2611=) c.7758C>G (p.Pro2586=) c.7656C>G (p.Pro2552=) c.7287C>G (p.Pro2429=) | dbSNP |
| 5 | g.112843730C>T | CA446211205 | APC | c.8190C>T (p.Pro2730=) c.*8142C>T (n.*8142C>T) c.8082C>T (p.Pro2694=) c.8136C>T (p.Pro2712=) c.231-12919C>T c.8166C>T (p.Pro2722=) c.8061C>T (p.Pro2687=) c.8052C>T (p.Pro2684=) c.8013C>T (p.Pro2671=) c.7959C>T (p.Pro2653=) c.7863C>T (p.Pro2621=) c.7833C>T (p.Pro2611=) c.7758C>T (p.Pro2586=) c.7656C>T (p.Pro2552=) c.7287C>T (p.Pro2429=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843731A= | CA1573476320 | APC | c.8191A= (p.Met2731=) c.*8143A= (n.*8143A=) c.8083A= (p.Met2695=) c.8137A= (p.Met2713=) c.231-12918A= c.8167A= (p.Met2723=) c.8062A= (p.Met2688=) c.8053A= (p.Met2685=) c.8014A= (p.Met2672=) c.7960A= (p.Met2654=) c.7864A= (p.Met2622=) c.7834A= (p.Met2612=) c.7759A= (p.Met2587=) c.7657A= (p.Met2553=) c.7288A= (p.Met2430=) | |
| 5 | g.112843731A>C | CA014373 | APC | c.8191A>C (p.Met2731Leu) c.*8143A>C (n.*8143A>C) c.8083A>C (p.Met2695Leu) c.8137A>C (p.Met2713Leu) c.231-12918A>C c.8167A>C (p.Met2723Leu) c.8062A>C (p.Met2688Leu) c.8053A>C (p.Met2685Leu) c.8014A>C (p.Met2672Leu) c.7960A>C (p.Met2654Leu) c.7864A>C (p.Met2622Leu) c.7834A>C (p.Met2612Leu) c.7759A>C (p.Met2587Leu) c.7657A>C (p.Met2553Leu) c.7288A>C (p.Met2430Leu) | ClinVar dbSNP |
| 5 | g.112843731A>G | CA16039002 | APC | c.8191A>G (p.Met2731Val) c.*8143A>G (n.*8143A>G) c.8083A>G (p.Met2695Val) c.8137A>G (p.Met2713Val) c.231-12918A>G c.8167A>G (p.Met2723Val) c.8062A>G (p.Met2688Val) c.8053A>G (p.Met2685Val) c.8014A>G (p.Met2672Val) c.7960A>G (p.Met2654Val) c.7864A>G (p.Met2622Val) c.7834A>G (p.Met2612Val) c.7759A>G (p.Met2587Val) c.7657A>G (p.Met2553Val) c.7288A>G (p.Met2430Val) | ClinVar dbSNP |
| 5 | g.112843731A>T | CA16039003 | APC | c.8191A>T (p.Met2731Leu) c.*8143A>T (n.*8143A>T) c.8083A>T (p.Met2695Leu) c.8137A>T (p.Met2713Leu) c.231-12918A>T c.8167A>T (p.Met2723Leu) c.8062A>T (p.Met2688Leu) c.8053A>T (p.Met2685Leu) c.8014A>T (p.Met2672Leu) c.7960A>T (p.Met2654Leu) c.7864A>T (p.Met2622Leu) c.7834A>T (p.Met2612Leu) c.7759A>T (p.Met2587Leu) c.7657A>T (p.Met2553Leu) c.7288A>T (p.Met2430Leu) | dbSNP gnomAD v4 |
| 5 | g.112843732T>A | CA16039004 | APC | c.8192T>A (p.Met2731Lys) c.*8144T>A (n.*8144T>A) c.8084T>A (p.Met2695Lys) c.8138T>A (p.Met2713Lys) c.231-12917T>A c.8168T>A (p.Met2723Lys) c.8063T>A (p.Met2688Lys) c.8054T>A (p.Met2685Lys) c.8015T>A (p.Met2672Lys) c.7961T>A (p.Met2654Lys) c.7865T>A (p.Met2622Lys) c.7835T>A (p.Met2612Lys) c.7760T>A (p.Met2587Lys) c.7658T>A (p.Met2553Lys) c.7289T>A (p.Met2430Lys) | dbSNP |
| 5 | g.112843732T>C | CA16039005 | APC | c.8192T>C (p.Met2731Thr) c.*8144T>C (n.*8144T>C) c.8084T>C (p.Met2695Thr) c.8138T>C (p.Met2713Thr) c.231-12917T>C c.8168T>C (p.Met2723Thr) c.8063T>C (p.Met2688Thr) c.8054T>C (p.Met2685Thr) c.8015T>C (p.Met2672Thr) c.7961T>C (p.Met2654Thr) c.7865T>C (p.Met2622Thr) c.7835T>C (p.Met2612Thr) c.7760T>C (p.Met2587Thr) c.7658T>C (p.Met2553Thr) c.7289T>C (p.Met2430Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112843732T>G | CA16039006 | APC | c.8192T>G (p.Met2731Arg) c.*8144T>G (n.*8144T>G) c.8084T>G (p.Met2695Arg) c.8138T>G (p.Met2713Arg) c.231-12917T>G c.8168T>G (p.Met2723Arg) c.8063T>G (p.Met2688Arg) c.8054T>G (p.Met2685Arg) c.8015T>G (p.Met2672Arg) c.7961T>G (p.Met2654Arg) c.7865T>G (p.Met2622Arg) c.7835T>G (p.Met2612Arg) c.7760T>G (p.Met2587Arg) c.7658T>G (p.Met2553Arg) c.7289T>G (p.Met2430Arg) | ClinVar dbSNP |