Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843810_112843825delCA2582341607APCc.8270_8285del (p.Lys2757IlefsTer13)
c.*8222_*8237del (n.*8222_*8237del)
c.8162_8177del (p.Lys2721IlefsTer13)
c.8216_8231del (p.Lys2739IlefsTer13)
c.231-12839_231-12824del
c.8246_8261del (p.Lys2749IlefsTer13)
c.8141_8156del (p.Lys2714IlefsTer13)
c.8132_8147del (p.Lys2711IlefsTer13)
c.8093_8108del (p.Lys2698IlefsTer13)
c.8039_8054del (p.Lys2680IlefsTer13)
c.7943_7958del (p.Lys2648IlefsTer13)
c.7913_7928del (p.Lys2638IlefsTer13)
c.7838_7853del (p.Lys2613IlefsTer13)
c.7736_7751del (p.Lys2579IlefsTer13)
c.7367_7382del (p.Lys2456IlefsTer13)
ClinVar
5g.112843820A=CA1573476963APCc.8280A= (p.Gln2760=)
c.*8232A= (n.*8232A=)
c.8172A= (p.Gln2724=)
c.8226A= (p.Gln2742=)
c.231-12829A=
c.8256A= (p.Gln2752=)
c.8151A= (p.Gln2717=)
c.8142A= (p.Gln2714=)
c.8103A= (p.Gln2701=)
c.8049A= (p.Gln2683=)
c.7953A= (p.Gln2651=)
c.7923A= (p.Gln2641=)
c.7848A= (p.Gln2616=)
c.7746A= (p.Gln2582=)
c.7377A= (p.Gln2459=)
5g.112843820A>CCA16039188APCc.8280A>C (p.Gln2760His)
c.*8232A>C (n.*8232A>C)
c.8172A>C (p.Gln2724His)
c.8226A>C (p.Gln2742His)
c.231-12829A>C
c.8256A>C (p.Gln2752His)
c.8151A>C (p.Gln2717His)
c.8142A>C (p.Gln2714His)
c.8103A>C (p.Gln2701His)
c.8049A>C (p.Gln2683His)
c.7953A>C (p.Gln2651His)
c.7923A>C (p.Gln2641His)
c.7848A>C (p.Gln2616His)
c.7746A>C (p.Gln2582His)
c.7377A>C (p.Gln2459His)
ClinVar dbSNP
5g.112843820A>GCA446211314APCc.8280A>G (p.Gln2760=)
c.*8232A>G (n.*8232A>G)
c.8172A>G (p.Gln2724=)
c.8226A>G (p.Gln2742=)
c.231-12829A>G
c.8256A>G (p.Gln2752=)
c.8151A>G (p.Gln2717=)
c.8142A>G (p.Gln2714=)
c.8103A>G (p.Gln2701=)
c.8049A>G (p.Gln2683=)
c.7953A>G (p.Gln2651=)
c.7923A>G (p.Gln2641=)
c.7848A>G (p.Gln2616=)
c.7746A>G (p.Gln2582=)
c.7377A>G (p.Gln2459=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112843820A>TCA16039189APCc.8280A>T (p.Gln2760His)
c.*8232A>T (n.*8232A>T)
c.8172A>T (p.Gln2724His)
c.8226A>T (p.Gln2742His)
c.231-12829A>T
c.8256A>T (p.Gln2752His)
c.8151A>T (p.Gln2717His)
c.8142A>T (p.Gln2714His)
c.8103A>T (p.Gln2701His)
c.8049A>T (p.Gln2683His)
c.7953A>T (p.Gln2651His)
c.7923A>T (p.Gln2641His)
c.7848A>T (p.Gln2616His)
c.7746A>T (p.Gln2582His)
c.7377A>T (p.Gln2459His)
dbSNP
5g.112843820_112843823delinsAAATCA1573476962APCc.8280_8283delinsAAAT (p.Gln2760=)
c.*8232_*8235delinsAAAT (n.*8232_*8235delinsAAAT)
c.8172_8175delinsAAAT (p.Gln2724=)
c.8226_8229delinsAAAT (p.Gln2742=)
c.231-12829_231-12826delinsAAAT
c.8256_8259delinsAAAT (p.Gln2752=)
c.8151_8154delinsAAAT (p.Gln2717=)
c.8142_8145delinsAAAT (p.Gln2714=)
c.8103_8106delinsAAAT (p.Gln2701=)
c.8049_8052delinsAAAT (p.Gln2683=)
c.7953_7956delinsAAAT (p.Gln2651=)
c.7923_7926delinsAAAT (p.Gln2641=)
c.7848_7851delinsAAAT (p.Gln2616=)
c.7746_7749delinsAAAT (p.Gln2582=)
c.7377_7380delinsAAAT (p.Gln2459=)
5g.112843821A>CCA16039190APCc.8281A>C (p.Asn2761His)
c.*8233A>C (n.*8233A>C)
c.8173A>C (p.Asn2725His)
c.8227A>C (p.Asn2743His)
c.231-12828A>C
c.8257A>C (p.Asn2753His)
c.8152A>C (p.Asn2718His)
c.8143A>C (p.Asn2715His)
c.8104A>C (p.Asn2702His)
c.8050A>C (p.Asn2684His)
c.7954A>C (p.Asn2652His)
c.7924A>C (p.Asn2642His)
c.7849A>C (p.Asn2617His)
c.7747A>C (p.Asn2583His)
c.7378A>C (p.Asn2460His)
5g.112843821A>GCA16039191APCc.8281A>G (p.Asn2761Asp)
c.*8233A>G (n.*8233A>G)
c.8173A>G (p.Asn2725Asp)
c.8227A>G (p.Asn2743Asp)
c.231-12828A>G
c.8257A>G (p.Asn2753Asp)
c.8152A>G (p.Asn2718Asp)
c.8143A>G (p.Asn2715Asp)
c.8104A>G (p.Asn2702Asp)
c.8050A>G (p.Asn2684Asp)
c.7954A>G (p.Asn2652Asp)
c.7924A>G (p.Asn2642Asp)
c.7849A>G (p.Asn2617Asp)
c.7747A>G (p.Asn2583Asp)
c.7378A>G (p.Asn2460Asp)
ClinVar dbSNP
5g.112843821A>TCA16039192APCc.8281A>T (p.Asn2761Tyr)
c.*8233A>T (n.*8233A>T)
c.8173A>T (p.Asn2725Tyr)
c.8227A>T (p.Asn2743Tyr)
c.231-12828A>T
c.8257A>T (p.Asn2753Tyr)
c.8152A>T (p.Asn2718Tyr)
c.8143A>T (p.Asn2715Tyr)
c.8104A>T (p.Asn2702Tyr)
c.8050A>T (p.Asn2684Tyr)
c.7954A>T (p.Asn2652Tyr)
c.7924A>T (p.Asn2642Tyr)
c.7849A>T (p.Asn2617Tyr)
c.7747A>T (p.Asn2583Tyr)
c.7378A>T (p.Asn2460Tyr)
dbSNP
5g.112843824_112843826delCA050220APCc.8284_8286del (p.Asn2762del)
c.*8236_*8238del (n.*8236_*8238del)
c.8176_8178del (p.Asn2726del)
c.8230_8232del (p.Asn2744del)
c.231-12825_231-12823del
c.8260_8262del (p.Asn2754del)
c.8155_8157del (p.Asn2719del)
c.8146_8148del (p.Asn2716del)
c.8107_8109del (p.Asn2703del)
c.8053_8055del (p.Asn2685del)
c.7957_7959del (p.Asn2653del)
c.7927_7929del (p.Asn2643del)
c.7852_7854del (p.Asn2618del)
c.7750_7752del (p.Asn2584del)
c.7381_7383del (p.Asn2461del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843822A=CA1573476972APCc.8282A= (p.Asn2761=)
c.*8234A= (n.*8234A=)
c.8174A= (p.Asn2725=)
c.8228A= (p.Asn2743=)
c.231-12827A=
c.8258A= (p.Asn2753=)
c.8153A= (p.Asn2718=)
c.8144A= (p.Asn2715=)
c.8105A= (p.Asn2702=)
c.8051A= (p.Asn2684=)
c.7955A= (p.Asn2652=)
c.7925A= (p.Asn2642=)
c.7850A= (p.Asn2617=)
c.7748A= (p.Asn2583=)
c.7379A= (p.Asn2460=)
5g.112843822A>CCA16039193APCc.8282A>C (p.Asn2761Thr)
c.*8234A>C (n.*8234A>C)
c.8174A>C (p.Asn2725Thr)
c.8228A>C (p.Asn2743Thr)
c.231-12827A>C
c.8258A>C (p.Asn2753Thr)
c.8153A>C (p.Asn2718Thr)
c.8144A>C (p.Asn2715Thr)
c.8105A>C (p.Asn2702Thr)
c.8051A>C (p.Asn2684Thr)
c.7955A>C (p.Asn2652Thr)
c.7925A>C (p.Asn2642Thr)
c.7850A>C (p.Asn2617Thr)
c.7748A>C (p.Asn2583Thr)
c.7379A>C (p.Asn2460Thr)
dbSNP
5g.112843822A>GCA050243APCc.8282A>G (p.Asn2761Ser)
c.*8234A>G (n.*8234A>G)
c.8174A>G (p.Asn2725Ser)
c.8228A>G (p.Asn2743Ser)
c.231-12827A>G
c.8258A>G (p.Asn2753Ser)
c.8153A>G (p.Asn2718Ser)
c.8144A>G (p.Asn2715Ser)
c.8105A>G (p.Asn2702Ser)
c.8051A>G (p.Asn2684Ser)
c.7955A>G (p.Asn2652Ser)
c.7925A>G (p.Asn2642Ser)
c.7850A>G (p.Asn2617Ser)
c.7748A>G (p.Asn2583Ser)
c.7379A>G (p.Asn2460Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843822A>TCA16039194APCc.8282A>T (p.Asn2761Ile)
c.*8234A>T (n.*8234A>T)
c.8174A>T (p.Asn2725Ile)
c.8228A>T (p.Asn2743Ile)
c.231-12827A>T
c.8258A>T (p.Asn2753Ile)
c.8153A>T (p.Asn2718Ile)
c.8144A>T (p.Asn2715Ile)
c.8105A>T (p.Asn2702Ile)
c.8051A>T (p.Asn2684Ile)
c.7955A>T (p.Asn2652Ile)
c.7925A>T (p.Asn2642Ile)
c.7850A>T (p.Asn2617Ile)
c.7748A>T (p.Asn2583Ile)
c.7379A>T (p.Asn2460Ile)
dbSNP
5g.112843823T>ACA16039195APCc.8283T>A (p.Asn2761Lys)
c.*8235T>A (n.*8235T>A)
c.8175T>A (p.Asn2725Lys)
c.8229T>A (p.Asn2743Lys)
c.231-12826T>A
c.8259T>A (p.Asn2753Lys)
c.8154T>A (p.Asn2718Lys)
c.8145T>A (p.Asn2715Lys)
c.8106T>A (p.Asn2702Lys)
c.8052T>A (p.Asn2684Lys)
c.7956T>A (p.Asn2652Lys)
c.7926T>A (p.Asn2642Lys)
c.7851T>A (p.Asn2617Lys)
c.7749T>A (p.Asn2583Lys)
c.7380T>A (p.Asn2460Lys)
5g.112843823T>CCA446211319APCc.8283T>C (p.Asn2761=)
c.*8235T>C (n.*8235T>C)
c.8175T>C (p.Asn2725=)
c.8229T>C (p.Asn2743=)
c.231-12826T>C
c.8259T>C (p.Asn2753=)
c.8154T>C (p.Asn2718=)
c.8145T>C (p.Asn2715=)
c.8106T>C (p.Asn2702=)
c.8052T>C (p.Asn2684=)
c.7956T>C (p.Asn2652=)
c.7926T>C (p.Asn2642=)
c.7851T>C (p.Asn2617=)
c.7749T>C (p.Asn2583=)
c.7380T>C (p.Asn2460=)
dbSNP
5g.112843823T>GCA16039196APCc.8283T>G (p.Asn2761Lys)
c.*8235T>G (n.*8235T>G)
c.8175T>G (p.Asn2725Lys)
c.8229T>G (p.Asn2743Lys)
c.231-12826T>G
c.8259T>G (p.Asn2753Lys)
c.8154T>G (p.Asn2718Lys)
c.8145T>G (p.Asn2715Lys)
c.8106T>G (p.Asn2702Lys)
c.8052T>G (p.Asn2684Lys)
c.7956T>G (p.Asn2652Lys)
c.7926T>G (p.Asn2642Lys)
c.7851T>G (p.Asn2617Lys)
c.7749T>G (p.Asn2583Lys)
c.7380T>G (p.Asn2460Lys)
ClinVar dbSNP
5g.112843823T=CA1573476987APCc.8283T= (p.Asn2761=)
c.*8235T= (n.*8235T=)
c.8175T= (p.Asn2725=)
c.8229T= (p.Asn2743=)
c.231-12826T=
c.8259T= (p.Asn2753=)
c.8154T= (p.Asn2718=)
c.8145T= (p.Asn2715=)
c.8106T= (p.Asn2702=)
c.8052T= (p.Asn2684=)
c.7956T= (p.Asn2652=)
c.7926T= (p.Asn2642=)
c.7851T= (p.Asn2617=)
c.7749T= (p.Asn2583=)
c.7380T= (p.Asn2460=)
5g.112843824A=CA1573476995APCc.8284A= (p.Asn2762=)
c.*8236A= (n.*8236A=)
c.8176A= (p.Asn2726=)
c.8230A= (p.Asn2744=)
c.231-12825A=
c.8260A= (p.Asn2754=)
c.8155A= (p.Asn2719=)
c.8146A= (p.Asn2716=)
c.8107A= (p.Asn2703=)
c.8053A= (p.Asn2685=)
c.7957A= (p.Asn2653=)
c.7927A= (p.Asn2643=)
c.7852A= (p.Asn2618=)
c.7750A= (p.Asn2584=)
c.7381A= (p.Asn2461=)
5g.112843824A>CCA16039197APCc.8284A>C (p.Asn2762His)
c.*8236A>C (n.*8236A>C)
c.8176A>C (p.Asn2726His)
c.8230A>C (p.Asn2744His)
c.231-12825A>C
c.8260A>C (p.Asn2754His)
c.8155A>C (p.Asn2719His)
c.8146A>C (p.Asn2716His)
c.8107A>C (p.Asn2703His)
c.8053A>C (p.Asn2685His)
c.7957A>C (p.Asn2653His)
c.7927A>C (p.Asn2643His)
c.7852A>C (p.Asn2618His)
c.7750A>C (p.Asn2584His)
c.7381A>C (p.Asn2461His)
dbSNP gnomAD v4
5g.112843824A>GCA050261APCc.8284A>G (p.Asn2762Asp)
c.*8236A>G (n.*8236A>G)
c.8176A>G (p.Asn2726Asp)
c.8230A>G (p.Asn2744Asp)
c.231-12825A>G
c.8260A>G (p.Asn2754Asp)
c.8155A>G (p.Asn2719Asp)
c.8146A>G (p.Asn2716Asp)
c.8107A>G (p.Asn2703Asp)
c.8053A>G (p.Asn2685Asp)
c.7957A>G (p.Asn2653Asp)
c.7927A>G (p.Asn2643Asp)
c.7852A>G (p.Asn2618Asp)
c.7750A>G (p.Asn2584Asp)
c.7381A>G (p.Asn2461Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112843824A>TCA16039198APCc.8284A>T (p.Asn2762Tyr)
c.*8236A>T (n.*8236A>T)
c.8176A>T (p.Asn2726Tyr)
c.8230A>T (p.Asn2744Tyr)
c.231-12825A>T
c.8260A>T (p.Asn2754Tyr)
c.8155A>T (p.Asn2719Tyr)
c.8146A>T (p.Asn2716Tyr)
c.8107A>T (p.Asn2703Tyr)
c.8053A>T (p.Asn2685Tyr)
c.7957A>T (p.Asn2653Tyr)
c.7927A>T (p.Asn2643Tyr)
c.7852A>T (p.Asn2618Tyr)
c.7750A>T (p.Asn2584Tyr)
c.7381A>T (p.Asn2461Tyr)
dbSNP
5g.112843825delCA2697546417APCc.8285del (p.Asn2762IlefsTer13)
c.*8237del (n.*8237del)
c.8177del (p.Asn2726IlefsTer13)
c.8231del (p.Asn2744IlefsTer13)
c.231-12824del
c.8261del (p.Asn2754IlefsTer13)
c.8156del (p.Asn2719IlefsTer13)
c.8147del (p.Asn2716IlefsTer13)
c.8108del (p.Asn2703IlefsTer13)
c.8054del (p.Asn2685IlefsTer13)
c.7958del (p.Asn2653IlefsTer13)
c.7928del (p.Asn2643IlefsTer13)
c.7853del (p.Asn2618IlefsTer13)
c.7751del (p.Asn2584IlefsTer13)
c.7382del (p.Asn2461IlefsTer13)
ClinVar
5g.112843825A>CCA16039199APCc.8285A>C (p.Asn2762Thr)
c.*8237A>C (n.*8237A>C)
c.8177A>C (p.Asn2726Thr)
c.8231A>C (p.Asn2744Thr)
c.231-12824A>C
c.8261A>C (p.Asn2754Thr)
c.8156A>C (p.Asn2719Thr)
c.8147A>C (p.Asn2716Thr)
c.8108A>C (p.Asn2703Thr)
c.8054A>C (p.Asn2685Thr)
c.7958A>C (p.Asn2653Thr)
c.7928A>C (p.Asn2643Thr)
c.7853A>C (p.Asn2618Thr)
c.7751A>C (p.Asn2584Thr)
c.7382A>C (p.Asn2461Thr)
5g.112843825A>GCA16039200APCc.8285A>G (p.Asn2762Ser)
c.*8237A>G (n.*8237A>G)
c.8177A>G (p.Asn2726Ser)
c.8231A>G (p.Asn2744Ser)
c.231-12824A>G
c.8261A>G (p.Asn2754Ser)
c.8156A>G (p.Asn2719Ser)
c.8147A>G (p.Asn2716Ser)
c.8108A>G (p.Asn2703Ser)
c.8054A>G (p.Asn2685Ser)
c.7958A>G (p.Asn2653Ser)
c.7928A>G (p.Asn2643Ser)
c.7853A>G (p.Asn2618Ser)
c.7751A>G (p.Asn2584Ser)
c.7382A>G (p.Asn2461Ser)
ClinVar
5g.112843825A>TCA16039201APCc.8285A>T (p.Asn2762Ile)
c.*8237A>T (n.*8237A>T)
c.8177A>T (p.Asn2726Ile)
c.8231A>T (p.Asn2744Ile)
c.231-12824A>T
c.8261A>T (p.Asn2754Ile)
c.8156A>T (p.Asn2719Ile)
c.8147A>T (p.Asn2716Ile)
c.8108A>T (p.Asn2703Ile)
c.8054A>T (p.Asn2685Ile)
c.7958A>T (p.Asn2653Ile)
c.7928A>T (p.Asn2643Ile)
c.7853A>T (p.Asn2618Ile)
c.7751A>T (p.Asn2584Ile)
c.7382A>T (p.Asn2461Ile)
dbSNP
5g.112843826T>ACA16039202APCc.8286T>A (p.Asn2762Lys)
c.*8238T>A (n.*8238T>A)
c.8178T>A (p.Asn2726Lys)
c.8232T>A (p.Asn2744Lys)
c.231-12823T>A
c.8262T>A (p.Asn2754Lys)
c.8157T>A (p.Asn2719Lys)
c.8148T>A (p.Asn2716Lys)
c.8109T>A (p.Asn2703Lys)
c.8055T>A (p.Asn2685Lys)
c.7959T>A (p.Asn2653Lys)
c.7929T>A (p.Asn2643Lys)
c.7854T>A (p.Asn2618Lys)
c.7752T>A (p.Asn2584Lys)
c.7383T>A (p.Asn2461Lys)
ClinVar
5g.112843826T>CCA446211322APCc.8286T>C (p.Asn2762=)
c.*8238T>C (n.*8238T>C)
c.8178T>C (p.Asn2726=)
c.8232T>C (p.Asn2744=)
c.231-12823T>C
c.8262T>C (p.Asn2754=)
c.8157T>C (p.Asn2719=)
c.8148T>C (p.Asn2716=)
c.8109T>C (p.Asn2703=)
c.8055T>C (p.Asn2685=)
c.7959T>C (p.Asn2653=)
c.7929T>C (p.Asn2643=)
c.7854T>C (p.Asn2618=)
c.7752T>C (p.Asn2584=)
c.7383T>C (p.Asn2461=)
5g.112843826T>GCA16039203APCc.8286T>G (p.Asn2762Lys)
c.*8238T>G (n.*8238T>G)
c.8178T>G (p.Asn2726Lys)
c.8232T>G (p.Asn2744Lys)
c.231-12823T>G
c.8262T>G (p.Asn2754Lys)
c.8157T>G (p.Asn2719Lys)
c.8148T>G (p.Asn2716Lys)
c.8109T>G (p.Asn2703Lys)
c.8055T>G (p.Asn2685Lys)
c.7959T>G (p.Asn2653Lys)
c.7929T>G (p.Asn2643Lys)
c.7854T>G (p.Asn2618Lys)
c.7752T>G (p.Asn2584Lys)
c.7383T>G (p.Asn2461Lys)
5g.112843827C>ACA014450APCc.8287C>A (p.Pro2763Thr)
c.*8239C>A (n.*8239C>A)
c.8179C>A (p.Pro2727Thr)
c.8233C>A (p.Pro2745Thr)
c.231-12822C>A
c.8263C>A (p.Pro2755Thr)
c.8158C>A (p.Pro2720Thr)
c.8149C>A (p.Pro2717Thr)
c.8110C>A (p.Pro2704Thr)
c.8056C>A (p.Pro2686Thr)
c.7960C>A (p.Pro2654Thr)
c.7930C>A (p.Pro2644Thr)
c.7855C>A (p.Pro2619Thr)
c.7753C>A (p.Pro2585Thr)
c.7384C>A (p.Pro2462Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843827C=CA1573477006APCc.8287C= (p.Pro2763=)
c.*8239C= (n.*8239C=)
c.8179C= (p.Pro2727=)
c.8233C= (p.Pro2745=)
c.231-12822C=
c.8263C= (p.Pro2755=)
c.8158C= (p.Pro2720=)
c.8149C= (p.Pro2717=)
c.8110C= (p.Pro2704=)
c.8056C= (p.Pro2686=)
c.7960C= (p.Pro2654=)
c.7930C= (p.Pro2644=)
c.7855C= (p.Pro2619=)
c.7753C= (p.Pro2585=)
c.7384C= (p.Pro2462=)
5g.112843827C>GCA16039204APCc.8287C>G (p.Pro2763Ala)
c.*8239C>G (n.*8239C>G)
c.8179C>G (p.Pro2727Ala)
c.8233C>G (p.Pro2745Ala)
c.231-12822C>G
c.8263C>G (p.Pro2755Ala)
c.8158C>G (p.Pro2720Ala)
c.8149C>G (p.Pro2717Ala)
c.8110C>G (p.Pro2704Ala)
c.8056C>G (p.Pro2686Ala)
c.7960C>G (p.Pro2654Ala)
c.7930C>G (p.Pro2644Ala)
c.7855C>G (p.Pro2619Ala)
c.7753C>G (p.Pro2585Ala)
c.7384C>G (p.Pro2462Ala)
dbSNP
5g.112843827C>TCA10578460APCc.8287C>T (p.Pro2763Ser)
c.*8239C>T (n.*8239C>T)
c.8179C>T (p.Pro2727Ser)
c.8233C>T (p.Pro2745Ser)
c.231-12822C>T
c.8263C>T (p.Pro2755Ser)
c.8158C>T (p.Pro2720Ser)
c.8149C>T (p.Pro2717Ser)
c.8110C>T (p.Pro2704Ser)
c.8056C>T (p.Pro2686Ser)
c.7960C>T (p.Pro2654Ser)
c.7930C>T (p.Pro2644Ser)
c.7855C>T (p.Pro2619Ser)
c.7753C>T (p.Pro2585Ser)
c.7384C>T (p.Pro2462Ser)
ClinVar dbSNP COSMIC
5g.112843828C>ACA16039205APCc.8288C>A (p.Pro2763His)
c.*8240C>A (n.*8240C>A)
c.8180C>A (p.Pro2727His)
c.8234C>A (p.Pro2745His)
c.231-12821C>A
c.8264C>A (p.Pro2755His)
c.8159C>A (p.Pro2720His)
c.8150C>A (p.Pro2717His)
c.8111C>A (p.Pro2704His)
c.8057C>A (p.Pro2686His)
c.7961C>A (p.Pro2654His)
c.7931C>A (p.Pro2644His)
c.7856C>A (p.Pro2619His)
c.7754C>A (p.Pro2585His)
c.7385C>A (p.Pro2462His)
ClinVar dbSNP
5g.112843828C=CA1573477015APCc.8288C= (p.Pro2763=)
c.*8240C= (n.*8240C=)
c.8180C= (p.Pro2727=)
c.8234C= (p.Pro2745=)
c.231-12821C=
c.8264C= (p.Pro2755=)
c.8159C= (p.Pro2720=)
c.8150C= (p.Pro2717=)
c.8111C= (p.Pro2704=)
c.8057C= (p.Pro2686=)
c.7961C= (p.Pro2654=)
c.7931C= (p.Pro2644=)
c.7856C= (p.Pro2619=)
c.7754C= (p.Pro2585=)
c.7385C= (p.Pro2462=)
5g.112843828C>GCA16039206APCc.8288C>G (p.Pro2763Arg)
c.*8240C>G (n.*8240C>G)
c.8180C>G (p.Pro2727Arg)
c.8234C>G (p.Pro2745Arg)
c.231-12821C>G
c.8264C>G (p.Pro2755Arg)
c.8159C>G (p.Pro2720Arg)
c.8150C>G (p.Pro2717Arg)
c.8111C>G (p.Pro2704Arg)
c.8057C>G (p.Pro2686Arg)
c.7961C>G (p.Pro2654Arg)
c.7931C>G (p.Pro2644Arg)
c.7856C>G (p.Pro2619Arg)
c.7754C>G (p.Pro2585Arg)
c.7385C>G (p.Pro2462Arg)
ClinVar dbSNP
5g.112843828C>TCA050281APCc.8288C>T (p.Pro2763Leu)
c.*8240C>T (n.*8240C>T)
c.8180C>T (p.Pro2727Leu)
c.8234C>T (p.Pro2745Leu)
c.231-12821C>T
c.8264C>T (p.Pro2755Leu)
c.8159C>T (p.Pro2720Leu)
c.8150C>T (p.Pro2717Leu)
c.8111C>T (p.Pro2704Leu)
c.8057C>T (p.Pro2686Leu)
c.7961C>T (p.Pro2654Leu)
c.7931C>T (p.Pro2644Leu)
c.7856C>T (p.Pro2619Leu)
c.7754C>T (p.Pro2585Leu)
c.7385C>T (p.Pro2462Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843829T>ACA014461APCc.8289T>A (p.Pro2763=)
c.*8241T>A (n.*8241T>A)
c.8181T>A (p.Pro2727=)
c.8235T>A (p.Pro2745=)
c.231-12820T>A
c.8265T>A (p.Pro2755=)
c.8160T>A (p.Pro2720=)
c.8151T>A (p.Pro2717=)
c.8112T>A (p.Pro2704=)
c.8058T>A (p.Pro2686=)
c.7962T>A (p.Pro2654=)
c.7932T>A (p.Pro2644=)
c.7857T>A (p.Pro2619=)
c.7755T>A (p.Pro2585=)
c.7386T>A (p.Pro2462=)
ClinVar dbSNP
5g.112843829T>CCA10578461APCc.8289T>C (p.Pro2763=)
c.*8241T>C (n.*8241T>C)
c.8181T>C (p.Pro2727=)
c.8235T>C (p.Pro2745=)
c.231-12820T>C
c.8265T>C (p.Pro2755=)
c.8160T>C (p.Pro2720=)
c.8151T>C (p.Pro2717=)
c.8112T>C (p.Pro2704=)
c.8058T>C (p.Pro2686=)
c.7962T>C (p.Pro2654=)
c.7932T>C (p.Pro2644=)
c.7857T>C (p.Pro2619=)
c.7755T>C (p.Pro2585=)
c.7386T>C (p.Pro2462=)
ClinVar dbSNP gnomAD v4
5g.112843829T>GCA446211324APCc.8289T>G (p.Pro2763=)
c.*8241T>G (n.*8241T>G)
c.8181T>G (p.Pro2727=)
c.8235T>G (p.Pro2745=)
c.231-12820T>G
c.8265T>G (p.Pro2755=)
c.8160T>G (p.Pro2720=)
c.8151T>G (p.Pro2717=)
c.8112T>G (p.Pro2704=)
c.8058T>G (p.Pro2686=)
c.7962T>G (p.Pro2654=)
c.7932T>G (p.Pro2644=)
c.7857T>G (p.Pro2619=)
c.7755T>G (p.Pro2585=)
c.7386T>G (p.Pro2462=)
5g.112843829T=CA1573477023APCc.8289T= (p.Pro2763=)
c.*8241T= (n.*8241T=)
c.8181T= (p.Pro2727=)
c.8235T= (p.Pro2745=)
c.231-12820T=
c.8265T= (p.Pro2755=)
c.8160T= (p.Pro2720=)
c.8151T= (p.Pro2717=)
c.8112T= (p.Pro2704=)
c.8058T= (p.Pro2686=)
c.7962T= (p.Pro2654=)
c.7932T= (p.Pro2644=)
c.7857T= (p.Pro2619=)
c.7755T= (p.Pro2585=)
c.7386T= (p.Pro2462=)
5g.112843830G>ACA16039207APCc.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
5g.112843830G>CCA16039208APCc.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
5g.112843830G=CA1573477056APCc.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=)
5g.112843830G>TCA16039209APCc.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
5g.112843831T>ACA16039210APCc.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)
5g.112843831T>CCA050294APCc.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
5g.112843831T>GCA16039211APCc.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
5g.112843831T=CA1573477064APCc.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=)
5g.112843832C>ACA446211328APCc.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

Number of alleles fetched