Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112843620_112843634delCA2695204980APCc.8080_8094del (p.Thr2694_Pro2698del)
c.*8032_*8046del (n.*8032_*8046del)
c.7972_7986del (p.Thr2658_Pro2662del)
c.8026_8040del (p.Thr2676_Pro2680del)
c.231-13029_231-13015del
c.8056_8070del (p.Thr2686_Pro2690del)
c.7951_7965del (p.Thr2651_Pro2655del)
c.7942_7956del (p.Thr2648_Pro2652del)
c.7903_7917del (p.Thr2635_Pro2639del)
c.7849_7863del (p.Thr2617_Pro2621del)
c.7753_7767del (p.Thr2585_Pro2589del)
c.7723_7737del (p.Thr2575_Pro2579del)
c.7648_7662del (p.Thr2550_Pro2554del)
c.7546_7560del (p.Thr2516_Pro2520del)
c.7177_7191del (p.Thr2393_Pro2397del)
5g.112843634C>ACA446211034APCc.8094C>A (p.Pro2698=)
c.*8046C>A (n.*8046C>A)
c.7986C>A (p.Pro2662=)
c.8040C>A (p.Pro2680=)
c.231-13015C>A
c.8070C>A (p.Pro2690=)
c.7965C>A (p.Pro2655=)
c.7956C>A (p.Pro2652=)
c.7917C>A (p.Pro2639=)
c.7863C>A (p.Pro2621=)
c.7767C>A (p.Pro2589=)
c.7737C>A (p.Pro2579=)
c.7662C>A (p.Pro2554=)
c.7560C>A (p.Pro2520=)
c.7191C>A (p.Pro2397=)
dbSNP
5g.112843634C=CA1573475633APCc.8094C= (p.Pro2698=)
c.*8046C= (n.*8046C=)
c.7986C= (p.Pro2662=)
c.8040C= (p.Pro2680=)
c.231-13015C=
c.8070C= (p.Pro2690=)
c.7965C= (p.Pro2655=)
c.7956C= (p.Pro2652=)
c.7917C= (p.Pro2639=)
c.7863C= (p.Pro2621=)
c.7767C= (p.Pro2589=)
c.7737C= (p.Pro2579=)
c.7662C= (p.Pro2554=)
c.7560C= (p.Pro2520=)
c.7191C= (p.Pro2397=)
5g.112843634C>GCA446211035APCc.8094C>G (p.Pro2698=)
c.*8046C>G (n.*8046C>G)
c.7986C>G (p.Pro2662=)
c.8040C>G (p.Pro2680=)
c.231-13015C>G
c.8070C>G (p.Pro2690=)
c.7965C>G (p.Pro2655=)
c.7956C>G (p.Pro2652=)
c.7917C>G (p.Pro2639=)
c.7863C>G (p.Pro2621=)
c.7767C>G (p.Pro2589=)
c.7737C>G (p.Pro2579=)
c.7662C>G (p.Pro2554=)
c.7560C>G (p.Pro2520=)
c.7191C>G (p.Pro2397=)
ClinVar dbSNP
5g.112843634C>TCA446211036APCc.8094C>T (p.Pro2698=)
c.*8046C>T (n.*8046C>T)
c.7986C>T (p.Pro2662=)
c.8040C>T (p.Pro2680=)
c.231-13015C>T
c.8070C>T (p.Pro2690=)
c.7965C>T (p.Pro2655=)
c.7956C>T (p.Pro2652=)
c.7917C>T (p.Pro2639=)
c.7863C>T (p.Pro2621=)
c.7767C>T (p.Pro2589=)
c.7737C>T (p.Pro2579=)
c.7662C>T (p.Pro2554=)
c.7560C>T (p.Pro2520=)
c.7191C>T (p.Pro2397=)
dbSNP gnomAD v2 gnomAD v4
5g.112843635C>ACA16038789APCc.8095C>A (p.Pro2699Thr)
c.*8047C>A (n.*8047C>A)
c.7987C>A (p.Pro2663Thr)
c.8041C>A (p.Pro2681Thr)
c.231-13014C>A
c.8071C>A (p.Pro2691Thr)
c.7966C>A (p.Pro2656Thr)
c.7957C>A (p.Pro2653Thr)
c.7918C>A (p.Pro2640Thr)
c.7864C>A (p.Pro2622Thr)
c.7768C>A (p.Pro2590Thr)
c.7738C>A (p.Pro2580Thr)
c.7663C>A (p.Pro2555Thr)
c.7561C>A (p.Pro2521Thr)
c.7192C>A (p.Pro2398Thr)
dbSNP
5g.112843635C=CA1573475643APCc.8095C= (p.Pro2699=)
c.*8047C= (n.*8047C=)
c.7987C= (p.Pro2663=)
c.8041C= (p.Pro2681=)
c.231-13014C=
c.8071C= (p.Pro2691=)
c.7966C= (p.Pro2656=)
c.7957C= (p.Pro2653=)
c.7918C= (p.Pro2640=)
c.7864C= (p.Pro2622=)
c.7768C= (p.Pro2590=)
c.7738C= (p.Pro2580=)
c.7663C= (p.Pro2555=)
c.7561C= (p.Pro2521=)
c.7192C= (p.Pro2398=)
5g.112843635C>GCA16038790APCc.8095C>G (p.Pro2699Ala)
c.*8047C>G (n.*8047C>G)
c.7987C>G (p.Pro2663Ala)
c.8041C>G (p.Pro2681Ala)
c.231-13014C>G
c.8071C>G (p.Pro2691Ala)
c.7966C>G (p.Pro2656Ala)
c.7957C>G (p.Pro2653Ala)
c.7918C>G (p.Pro2640Ala)
c.7864C>G (p.Pro2622Ala)
c.7768C>G (p.Pro2590Ala)
c.7738C>G (p.Pro2580Ala)
c.7663C>G (p.Pro2555Ala)
c.7561C>G (p.Pro2521Ala)
c.7192C>G (p.Pro2398Ala)
dbSNP
5g.112843635C>TCA16038791APCc.8095C>T (p.Pro2699Ser)
c.*8047C>T (n.*8047C>T)
c.7987C>T (p.Pro2663Ser)
c.8041C>T (p.Pro2681Ser)
c.231-13014C>T
c.8071C>T (p.Pro2691Ser)
c.7966C>T (p.Pro2656Ser)
c.7957C>T (p.Pro2653Ser)
c.7918C>T (p.Pro2640Ser)
c.7864C>T (p.Pro2622Ser)
c.7768C>T (p.Pro2590Ser)
c.7738C>T (p.Pro2580Ser)
c.7663C>T (p.Pro2555Ser)
c.7561C>T (p.Pro2521Ser)
c.7192C>T (p.Pro2398Ser)
ClinVar dbSNP
5g.112843636C>ACA16038792APCc.8096C>A (p.Pro2699Gln)
c.*8048C>A (n.*8048C>A)
c.7988C>A (p.Pro2663Gln)
c.8042C>A (p.Pro2681Gln)
c.231-13013C>A
c.8072C>A (p.Pro2691Gln)
c.7967C>A (p.Pro2656Gln)
c.7958C>A (p.Pro2653Gln)
c.7919C>A (p.Pro2640Gln)
c.7865C>A (p.Pro2622Gln)
c.7769C>A (p.Pro2590Gln)
c.7739C>A (p.Pro2580Gln)
c.7664C>A (p.Pro2555Gln)
c.7562C>A (p.Pro2521Gln)
c.7193C>A (p.Pro2398Gln)
ClinVar dbSNP gnomAD v4
5g.112843636C=CA1573475652APCc.8096C= (p.Pro2699=)
c.*8048C= (n.*8048C=)
c.7988C= (p.Pro2663=)
c.8042C= (p.Pro2681=)
c.231-13013C=
c.8072C= (p.Pro2691=)
c.7967C= (p.Pro2656=)
c.7958C= (p.Pro2653=)
c.7919C= (p.Pro2640=)
c.7865C= (p.Pro2622=)
c.7769C= (p.Pro2590=)
c.7739C= (p.Pro2580=)
c.7664C= (p.Pro2555=)
c.7562C= (p.Pro2521=)
c.7193C= (p.Pro2398=)
5g.112843636C>GCA16038793APCc.8096C>G (p.Pro2699Arg)
c.*8048C>G (n.*8048C>G)
c.7988C>G (p.Pro2663Arg)
c.8042C>G (p.Pro2681Arg)
c.231-13013C>G
c.8072C>G (p.Pro2691Arg)
c.7967C>G (p.Pro2656Arg)
c.7958C>G (p.Pro2653Arg)
c.7919C>G (p.Pro2640Arg)
c.7865C>G (p.Pro2622Arg)
c.7769C>G (p.Pro2590Arg)
c.7739C>G (p.Pro2580Arg)
c.7664C>G (p.Pro2555Arg)
c.7562C>G (p.Pro2521Arg)
c.7193C>G (p.Pro2398Arg)
dbSNP
5g.112843636C>TCA014266APCc.8096C>T (p.Pro2699Leu)
c.*8048C>T (n.*8048C>T)
c.7988C>T (p.Pro2663Leu)
c.8042C>T (p.Pro2681Leu)
c.231-13013C>T
c.8072C>T (p.Pro2691Leu)
c.7967C>T (p.Pro2656Leu)
c.7958C>T (p.Pro2653Leu)
c.7919C>T (p.Pro2640Leu)
c.7865C>T (p.Pro2622Leu)
c.7769C>T (p.Pro2590Leu)
c.7739C>T (p.Pro2580Leu)
c.7664C>T (p.Pro2555Leu)
c.7562C>T (p.Pro2521Leu)
c.7193C>T (p.Pro2398Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843637G>ACA049766APCc.8097G>A (p.Pro2699=)
c.*8049G>A (n.*8049G>A)
c.7989G>A (p.Pro2663=)
c.8043G>A (p.Pro2681=)
c.231-13012G>A
c.8073G>A (p.Pro2691=)
c.7968G>A (p.Pro2656=)
c.7959G>A (p.Pro2653=)
c.7920G>A (p.Pro2640=)
c.7866G>A (p.Pro2622=)
c.7770G>A (p.Pro2590=)
c.7740G>A (p.Pro2580=)
c.7665G>A (p.Pro2555=)
c.7563G>A (p.Pro2521=)
c.7194G>A (p.Pro2398=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843637G>CCA014279APCc.8097G>C (p.Pro2699=)
c.*8049G>C (n.*8049G>C)
c.7989G>C (p.Pro2663=)
c.8043G>C (p.Pro2681=)
c.231-13012G>C
c.8073G>C (p.Pro2691=)
c.7968G>C (p.Pro2656=)
c.7959G>C (p.Pro2653=)
c.7920G>C (p.Pro2640=)
c.7866G>C (p.Pro2622=)
c.7770G>C (p.Pro2590=)
c.7740G>C (p.Pro2580=)
c.7665G>C (p.Pro2555=)
c.7563G>C (p.Pro2521=)
c.7194G>C (p.Pro2398=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112843637G=CA1573475667APCc.8097G= (p.Pro2699=)
c.*8049G= (n.*8049G=)
c.7989G= (p.Pro2663=)
c.8043G= (p.Pro2681=)
c.231-13012G=
c.8073G= (p.Pro2691=)
c.7968G= (p.Pro2656=)
c.7959G= (p.Pro2653=)
c.7920G= (p.Pro2640=)
c.7866G= (p.Pro2622=)
c.7770G= (p.Pro2590=)
c.7740G= (p.Pro2580=)
c.7665G= (p.Pro2555=)
c.7563G= (p.Pro2521=)
c.7194G= (p.Pro2398=)
5g.112843637G>TCA446211037APCc.8097G>T (p.Pro2699=)
c.*8049G>T (n.*8049G>T)
c.7989G>T (p.Pro2663=)
c.8043G>T (p.Pro2681=)
c.231-13012G>T
c.8073G>T (p.Pro2691=)
c.7968G>T (p.Pro2656=)
c.7959G>T (p.Pro2653=)
c.7920G>T (p.Pro2640=)
c.7866G>T (p.Pro2622=)
c.7770G>T (p.Pro2590=)
c.7740G>T (p.Pro2580=)
c.7665G>T (p.Pro2555=)
c.7563G>T (p.Pro2521=)
c.7194G>T (p.Pro2398=)
dbSNP gnomAD v4
5g.112843638G>ACA16038794APCc.8098G>A (p.Val2700Met)
c.*8050G>A (n.*8050G>A)
c.7990G>A (p.Val2664Met)
c.8044G>A (p.Val2682Met)
c.231-13011G>A
c.8074G>A (p.Val2692Met)
c.7969G>A (p.Val2657Met)
c.7960G>A (p.Val2654Met)
c.7921G>A (p.Val2641Met)
c.7867G>A (p.Val2623Met)
c.7771G>A (p.Val2591Met)
c.7741G>A (p.Val2581Met)
c.7666G>A (p.Val2556Met)
c.7564G>A (p.Val2522Met)
c.7195G>A (p.Val2399Met)
ClinVar dbSNP COSMIC
5g.112843638G>CCA16038795APCc.8098G>C (p.Val2700Leu)
c.*8050G>C (n.*8050G>C)
c.7990G>C (p.Val2664Leu)
c.8044G>C (p.Val2682Leu)
c.231-13011G>C
c.8074G>C (p.Val2692Leu)
c.7969G>C (p.Val2657Leu)
c.7960G>C (p.Val2654Leu)
c.7921G>C (p.Val2641Leu)
c.7867G>C (p.Val2623Leu)
c.7771G>C (p.Val2591Leu)
c.7741G>C (p.Val2581Leu)
c.7666G>C (p.Val2556Leu)
c.7564G>C (p.Val2522Leu)
c.7195G>C (p.Val2399Leu)
ClinVar dbSNP
5g.112843638G=CA1573475684APCc.8098G= (p.Val2700=)
c.*8050G= (n.*8050G=)
c.7990G= (p.Val2664=)
c.8044G= (p.Val2682=)
c.231-13011G=
c.8074G= (p.Val2692=)
c.7969G= (p.Val2657=)
c.7960G= (p.Val2654=)
c.7921G= (p.Val2641=)
c.7867G= (p.Val2623=)
c.7771G= (p.Val2591=)
c.7741G= (p.Val2581=)
c.7666G= (p.Val2556=)
c.7564G= (p.Val2522=)
c.7195G= (p.Val2399=)
5g.112843638G>TCA16038796APCc.8098G>T (p.Val2700Leu)
c.*8050G>T (n.*8050G>T)
c.7990G>T (p.Val2664Leu)
c.8044G>T (p.Val2682Leu)
c.231-13011G>T
c.8074G>T (p.Val2692Leu)
c.7969G>T (p.Val2657Leu)
c.7960G>T (p.Val2654Leu)
c.7921G>T (p.Val2641Leu)
c.7867G>T (p.Val2623Leu)
c.7771G>T (p.Val2591Leu)
c.7741G>T (p.Val2581Leu)
c.7666G>T (p.Val2556Leu)
c.7564G>T (p.Val2522Leu)
c.7195G>T (p.Val2399Leu)
ClinVar dbSNP
5g.112843639T>ACA16038797APCc.8099T>A (p.Val2700Glu)
c.*8051T>A (n.*8051T>A)
c.7991T>A (p.Val2664Glu)
c.8045T>A (p.Val2682Glu)
c.231-13010T>A
c.8075T>A (p.Val2692Glu)
c.7970T>A (p.Val2657Glu)
c.7961T>A (p.Val2654Glu)
c.7922T>A (p.Val2641Glu)
c.7868T>A (p.Val2623Glu)
c.7772T>A (p.Val2591Glu)
c.7742T>A (p.Val2581Glu)
c.7667T>A (p.Val2556Glu)
c.7565T>A (p.Val2522Glu)
c.7196T>A (p.Val2399Glu)
dbSNP
5g.112843639T>CCA16038798APCc.8099T>C (p.Val2700Ala)
c.*8051T>C (n.*8051T>C)
c.7991T>C (p.Val2664Ala)
c.8045T>C (p.Val2682Ala)
c.231-13010T>C
c.8075T>C (p.Val2692Ala)
c.7970T>C (p.Val2657Ala)
c.7961T>C (p.Val2654Ala)
c.7922T>C (p.Val2641Ala)
c.7868T>C (p.Val2623Ala)
c.7772T>C (p.Val2591Ala)
c.7742T>C (p.Val2581Ala)
c.7667T>C (p.Val2556Ala)
c.7565T>C (p.Val2522Ala)
c.7196T>C (p.Val2399Ala)
dbSNP
5g.112843639T>GCA16038799APCc.8099T>G (p.Val2700Gly)
c.*8051T>G (n.*8051T>G)
c.7991T>G (p.Val2664Gly)
c.8045T>G (p.Val2682Gly)
c.231-13010T>G
c.8075T>G (p.Val2692Gly)
c.7970T>G (p.Val2657Gly)
c.7961T>G (p.Val2654Gly)
c.7922T>G (p.Val2641Gly)
c.7868T>G (p.Val2623Gly)
c.7772T>G (p.Val2591Gly)
c.7742T>G (p.Val2581Gly)
c.7667T>G (p.Val2556Gly)
c.7565T>G (p.Val2522Gly)
c.7196T>G (p.Val2399Gly)
dbSNP
5g.112843640G>ACA446211038APCc.8100G>A (p.Val2700=)
c.*8052G>A (n.*8052G>A)
c.7992G>A (p.Val2664=)
c.8046G>A (p.Val2682=)
c.231-13009G>A
c.8076G>A (p.Val2692=)
c.7971G>A (p.Val2657=)
c.7962G>A (p.Val2654=)
c.7923G>A (p.Val2641=)
c.7869G>A (p.Val2623=)
c.7773G>A (p.Val2591=)
c.7743G>A (p.Val2581=)
c.7668G>A (p.Val2556=)
c.7566G>A (p.Val2522=)
c.7197G>A (p.Val2399=)
dbSNP gnomAD v2
5g.112843640G>CCA446211040APCc.8100G>C (p.Val2700=)
c.*8052G>C (n.*8052G>C)
c.7992G>C (p.Val2664=)
c.8046G>C (p.Val2682=)
c.231-13009G>C
c.8076G>C (p.Val2692=)
c.7971G>C (p.Val2657=)
c.7962G>C (p.Val2654=)
c.7923G>C (p.Val2641=)
c.7869G>C (p.Val2623=)
c.7773G>C (p.Val2591=)
c.7743G>C (p.Val2581=)
c.7668G>C (p.Val2556=)
c.7566G>C (p.Val2522=)
c.7197G>C (p.Val2399=)
dbSNP
5g.112843640G=CA1573475710APCc.8100G= (p.Val2700=)
c.*8052G= (n.*8052G=)
c.7992G= (p.Val2664=)
c.8046G= (p.Val2682=)
c.231-13009G=
c.8076G= (p.Val2692=)
c.7971G= (p.Val2657=)
c.7962G= (p.Val2654=)
c.7923G= (p.Val2641=)
c.7869G= (p.Val2623=)
c.7773G= (p.Val2591=)
c.7743G= (p.Val2581=)
c.7668G= (p.Val2556=)
c.7566G= (p.Val2522=)
c.7197G= (p.Val2399=)
5g.112843640G>TCA446211039APCc.8100G>T (p.Val2700=)
c.*8052G>T (n.*8052G>T)
c.7992G>T (p.Val2664=)
c.8046G>T (p.Val2682=)
c.231-13009G>T
c.8076G>T (p.Val2692=)
c.7971G>T (p.Val2657=)
c.7962G>T (p.Val2654=)
c.7923G>T (p.Val2641=)
c.7869G>T (p.Val2623=)
c.7773G>T (p.Val2591=)
c.7743G>T (p.Val2581=)
c.7668G>T (p.Val2556=)
c.7566G>T (p.Val2522=)
c.7197G>T (p.Val2399=)
dbSNP
5g.112843640_112843641delinsGACA1573475707APCc.8100_8101delinsGA (p.Val2700=)
c.*8052_*8053delinsGA (n.*8052_*8053delinsGA)
c.7992_7993delinsGA (p.Val2664=)
c.8046_8047delinsGA (p.Val2682=)
c.231-13009_231-13008delinsGA
c.8076_8077delinsGA (p.Val2692=)
c.7971_7972delinsGA (p.Val2657=)
c.7962_7963delinsGA (p.Val2654=)
c.7923_7924delinsGA (p.Val2641=)
c.7869_7870delinsGA (p.Val2623=)
c.7773_7774delinsGA (p.Val2591=)
c.7743_7744delinsGA (p.Val2581=)
c.7668_7669delinsGA (p.Val2556=)
c.7566_7567delinsGA (p.Val2522=)
c.7197_7198delinsGA (p.Val2399=)
5g.112843641delCA645369385APCc.8101del (p.Ile2701LeufsTer?)
c.*8053del (n.*8053del)
c.7993del (p.Ile2665LeufsTer?)
c.8047del (p.Ile2683LeufsTer?)
c.231-13008del
c.8077del (p.Ile2693LeufsTer?)
c.7972del (p.Ile2658LeufsTer?)
c.7963del (p.Ile2655LeufsTer?)
c.7924del (p.Ile2642LeufsTer?)
c.7870del (p.Ile2624LeufsTer?)
c.7774del (p.Ile2592LeufsTer?)
c.7744del (p.Ile2582LeufsTer?)
c.7669del (p.Ile2557LeufsTer?)
c.7567del (p.Ile2523LeufsTer?)
c.7198del (p.Ile2400LeufsTer?)
ClinVar dbSNP
5g.112843641A>CCA16038800APCc.8101A>C (p.Ile2701Leu)
c.*8053A>C (n.*8053A>C)
c.7993A>C (p.Ile2665Leu)
c.8047A>C (p.Ile2683Leu)
c.231-13008A>C
c.8077A>C (p.Ile2693Leu)
c.7972A>C (p.Ile2658Leu)
c.7963A>C (p.Ile2655Leu)
c.7924A>C (p.Ile2642Leu)
c.7870A>C (p.Ile2624Leu)
c.7774A>C (p.Ile2592Leu)
c.7744A>C (p.Ile2582Leu)
c.7669A>C (p.Ile2557Leu)
c.7567A>C (p.Ile2523Leu)
c.7198A>C (p.Ile2400Leu)
5g.112843641A>GCA16038801APCc.8101A>G (p.Ile2701Val)
c.*8053A>G (n.*8053A>G)
c.7993A>G (p.Ile2665Val)
c.8047A>G (p.Ile2683Val)
c.231-13008A>G
c.8077A>G (p.Ile2693Val)
c.7972A>G (p.Ile2658Val)
c.7963A>G (p.Ile2655Val)
c.7924A>G (p.Ile2642Val)
c.7870A>G (p.Ile2624Val)
c.7774A>G (p.Ile2592Val)
c.7744A>G (p.Ile2582Val)
c.7669A>G (p.Ile2557Val)
c.7567A>G (p.Ile2523Val)
c.7198A>G (p.Ile2400Val)
5g.112843641A>TCA16038802APCc.8101A>T (p.Ile2701Phe)
c.*8053A>T (n.*8053A>T)
c.7993A>T (p.Ile2665Phe)
c.8047A>T (p.Ile2683Phe)
c.231-13008A>T
c.8077A>T (p.Ile2693Phe)
c.7972A>T (p.Ile2658Phe)
c.7963A>T (p.Ile2655Phe)
c.7924A>T (p.Ile2642Phe)
c.7870A>T (p.Ile2624Phe)
c.7774A>T (p.Ile2592Phe)
c.7744A>T (p.Ile2582Phe)
c.7669A>T (p.Ile2557Phe)
c.7567A>T (p.Ile2523Phe)
c.7198A>T (p.Ile2400Phe)
5g.112843642T>ACA16038803APCc.8102T>A (p.Ile2701Asn)
c.*8054T>A (n.*8054T>A)
c.7994T>A (p.Ile2665Asn)
c.8048T>A (p.Ile2683Asn)
c.231-13007T>A
c.8078T>A (p.Ile2693Asn)
c.7973T>A (p.Ile2658Asn)
c.7964T>A (p.Ile2655Asn)
c.7925T>A (p.Ile2642Asn)
c.7871T>A (p.Ile2624Asn)
c.7775T>A (p.Ile2592Asn)
c.7745T>A (p.Ile2582Asn)
c.7670T>A (p.Ile2557Asn)
c.7568T>A (p.Ile2523Asn)
c.7199T>A (p.Ile2400Asn)
dbSNP
5g.112843642T>CCA16038804APCc.8102T>C (p.Ile2701Thr)
c.*8054T>C (n.*8054T>C)
c.7994T>C (p.Ile2665Thr)
c.8048T>C (p.Ile2683Thr)
c.231-13007T>C
c.8078T>C (p.Ile2693Thr)
c.7973T>C (p.Ile2658Thr)
c.7964T>C (p.Ile2655Thr)
c.7925T>C (p.Ile2642Thr)
c.7871T>C (p.Ile2624Thr)
c.7775T>C (p.Ile2592Thr)
c.7745T>C (p.Ile2582Thr)
c.7670T>C (p.Ile2557Thr)
c.7568T>C (p.Ile2523Thr)
c.7199T>C (p.Ile2400Thr)
ClinVar dbSNP gnomAD v4
5g.112843642T>GCA16038805APCc.8102T>G (p.Ile2701Ser)
c.*8054T>G (n.*8054T>G)
c.7994T>G (p.Ile2665Ser)
c.8048T>G (p.Ile2683Ser)
c.231-13007T>G
c.8078T>G (p.Ile2693Ser)
c.7973T>G (p.Ile2658Ser)
c.7964T>G (p.Ile2655Ser)
c.7925T>G (p.Ile2642Ser)
c.7871T>G (p.Ile2624Ser)
c.7775T>G (p.Ile2592Ser)
c.7745T>G (p.Ile2582Ser)
c.7670T>G (p.Ile2557Ser)
c.7568T>G (p.Ile2523Ser)
c.7199T>G (p.Ile2400Ser)
ClinVar dbSNP
5g.112843642T=CA1573475724APCc.8102T= (p.Ile2701=)
c.*8054T= (n.*8054T=)
c.7994T= (p.Ile2665=)
c.8048T= (p.Ile2683=)
c.231-13007T=
c.8078T= (p.Ile2693=)
c.7973T= (p.Ile2658=)
c.7964T= (p.Ile2655=)
c.7925T= (p.Ile2642=)
c.7871T= (p.Ile2624=)
c.7775T= (p.Ile2592=)
c.7745T= (p.Ile2582=)
c.7670T= (p.Ile2557=)
c.7568T= (p.Ile2523=)
c.7199T= (p.Ile2400=)
5g.112843643T>ACA446211041APCc.8103T>A (p.Ile2701=)
c.*8055T>A (n.*8055T>A)
c.7995T>A (p.Ile2665=)
c.8049T>A (p.Ile2683=)
c.231-13006T>A
c.8079T>A (p.Ile2693=)
c.7974T>A (p.Ile2658=)
c.7965T>A (p.Ile2655=)
c.7926T>A (p.Ile2642=)
c.7872T>A (p.Ile2624=)
c.7776T>A (p.Ile2592=)
c.7746T>A (p.Ile2582=)
c.7671T>A (p.Ile2557=)
c.7569T>A (p.Ile2523=)
c.7200T>A (p.Ile2400=)
ClinVar dbSNP
5g.112843643T>CCA446211042APCc.8103T>C (p.Ile2701=)
c.*8055T>C (n.*8055T>C)
c.7995T>C (p.Ile2665=)
c.8049T>C (p.Ile2683=)
c.231-13006T>C
c.8079T>C (p.Ile2693=)
c.7974T>C (p.Ile2658=)
c.7965T>C (p.Ile2655=)
c.7926T>C (p.Ile2642=)
c.7872T>C (p.Ile2624=)
c.7776T>C (p.Ile2592=)
c.7746T>C (p.Ile2582=)
c.7671T>C (p.Ile2557=)
c.7569T>C (p.Ile2523=)
c.7200T>C (p.Ile2400=)
ClinVar dbSNP
5g.112843643T>GCA16038806APCc.8103T>G (p.Ile2701Met)
c.*8055T>G (n.*8055T>G)
c.7995T>G (p.Ile2665Met)
c.8049T>G (p.Ile2683Met)
c.231-13006T>G
c.8079T>G (p.Ile2693Met)
c.7974T>G (p.Ile2658Met)
c.7965T>G (p.Ile2655Met)
c.7926T>G (p.Ile2642Met)
c.7872T>G (p.Ile2624Met)
c.7776T>G (p.Ile2592Met)
c.7746T>G (p.Ile2582Met)
c.7671T>G (p.Ile2557Met)
c.7569T>G (p.Ile2523Met)
c.7200T>G (p.Ile2400Met)
5g.112843643T=CA1573475729APCc.8103T= (p.Ile2701=)
c.*8055T= (n.*8055T=)
c.7995T= (p.Ile2665=)
c.8049T= (p.Ile2683=)
c.231-13006T=
c.8079T= (p.Ile2693=)
c.7974T= (p.Ile2658=)
c.7965T= (p.Ile2655=)
c.7926T= (p.Ile2642=)
c.7872T= (p.Ile2624=)
c.7776T= (p.Ile2592=)
c.7746T= (p.Ile2582=)
c.7671T= (p.Ile2557=)
c.7569T= (p.Ile2523=)
c.7200T= (p.Ile2400=)
5g.112843644G>ACA16038807APCc.8104G>A (p.Asp2702Asn)
c.*8056G>A (n.*8056G>A)
c.7996G>A (p.Asp2666Asn)
c.8050G>A (p.Asp2684Asn)
c.231-13005G>A
c.8080G>A (p.Asp2694Asn)
c.7975G>A (p.Asp2659Asn)
c.7966G>A (p.Asp2656Asn)
c.7927G>A (p.Asp2643Asn)
c.7873G>A (p.Asp2625Asn)
c.7777G>A (p.Asp2593Asn)
c.7747G>A (p.Asp2583Asn)
c.7672G>A (p.Asp2558Asn)
c.7570G>A (p.Asp2524Asn)
c.7201G>A (p.Asp2401Asn)
dbSNP gnomAD v4
5g.112843644G>CCA16038808APCc.8104G>C (p.Asp2702His)
c.*8056G>C (n.*8056G>C)
c.7996G>C (p.Asp2666His)
c.8050G>C (p.Asp2684His)
c.231-13005G>C
c.8080G>C (p.Asp2694His)
c.7975G>C (p.Asp2659His)
c.7966G>C (p.Asp2656His)
c.7927G>C (p.Asp2643His)
c.7873G>C (p.Asp2625His)
c.7777G>C (p.Asp2593His)
c.7747G>C (p.Asp2583His)
c.7672G>C (p.Asp2558His)
c.7570G>C (p.Asp2524His)
c.7201G>C (p.Asp2401His)
ClinVar dbSNP
5g.112843644G=CA1573475734APCc.8104G= (p.Asp2702=)
c.*8056G= (n.*8056G=)
c.7996G= (p.Asp2666=)
c.8050G= (p.Asp2684=)
c.231-13005G=
c.8080G= (p.Asp2694=)
c.7975G= (p.Asp2659=)
c.7966G= (p.Asp2656=)
c.7927G= (p.Asp2643=)
c.7873G= (p.Asp2625=)
c.7777G= (p.Asp2593=)
c.7747G= (p.Asp2583=)
c.7672G= (p.Asp2558=)
c.7570G= (p.Asp2524=)
c.7201G= (p.Asp2401=)
5g.112843644G>TCA16038809APCc.8104G>T (p.Asp2702Tyr)
c.*8056G>T (n.*8056G>T)
c.7996G>T (p.Asp2666Tyr)
c.8050G>T (p.Asp2684Tyr)
c.231-13005G>T
c.8080G>T (p.Asp2694Tyr)
c.7975G>T (p.Asp2659Tyr)
c.7966G>T (p.Asp2656Tyr)
c.7927G>T (p.Asp2643Tyr)
c.7873G>T (p.Asp2625Tyr)
c.7777G>T (p.Asp2593Tyr)
c.7747G>T (p.Asp2583Tyr)
c.7672G>T (p.Asp2558Tyr)
c.7570G>T (p.Asp2524Tyr)
c.7201G>T (p.Asp2401Tyr)
5g.112843645A>CCA16038810APCc.8105A>C (p.Asp2702Ala)
c.*8057A>C (n.*8057A>C)
c.7997A>C (p.Asp2666Ala)
c.8051A>C (p.Asp2684Ala)
c.231-13004A>C
c.8081A>C (p.Asp2694Ala)
c.7976A>C (p.Asp2659Ala)
c.7967A>C (p.Asp2656Ala)
c.7928A>C (p.Asp2643Ala)
c.7874A>C (p.Asp2625Ala)
c.7778A>C (p.Asp2593Ala)
c.7748A>C (p.Asp2583Ala)
c.7673A>C (p.Asp2558Ala)
c.7571A>C (p.Asp2524Ala)
c.7202A>C (p.Asp2401Ala)
5g.112843645A>GCA16038811APCc.8105A>G (p.Asp2702Gly)
c.*8057A>G (n.*8057A>G)
c.7997A>G (p.Asp2666Gly)
c.8051A>G (p.Asp2684Gly)
c.231-13004A>G
c.8081A>G (p.Asp2694Gly)
c.7976A>G (p.Asp2659Gly)
c.7967A>G (p.Asp2656Gly)
c.7928A>G (p.Asp2643Gly)
c.7874A>G (p.Asp2625Gly)
c.7778A>G (p.Asp2593Gly)
c.7748A>G (p.Asp2583Gly)
c.7673A>G (p.Asp2558Gly)
c.7571A>G (p.Asp2524Gly)
c.7202A>G (p.Asp2401Gly)
ClinVar dbSNP
5g.112843645A>TCA16038812APCc.8105A>T (p.Asp2702Val)
c.*8057A>T (n.*8057A>T)
c.7997A>T (p.Asp2666Val)
c.8051A>T (p.Asp2684Val)
c.231-13004A>T
c.8081A>T (p.Asp2694Val)
c.7976A>T (p.Asp2659Val)
c.7967A>T (p.Asp2656Val)
c.7928A>T (p.Asp2643Val)
c.7874A>T (p.Asp2625Val)
c.7778A>T (p.Asp2593Val)
c.7748A>T (p.Asp2583Val)
c.7673A>T (p.Asp2558Val)
c.7571A>T (p.Asp2524Val)
c.7202A>T (p.Asp2401Val)
dbSNP
5g.112843646C>ACA16038813APCc.8106C>A (p.Asp2702Glu)
c.*8058C>A (n.*8058C>A)
c.7998C>A (p.Asp2666Glu)
c.8052C>A (p.Asp2684Glu)
c.231-13003C>A
c.8082C>A (p.Asp2694Glu)
c.7977C>A (p.Asp2659Glu)
c.7968C>A (p.Asp2656Glu)
c.7929C>A (p.Asp2643Glu)
c.7875C>A (p.Asp2625Glu)
c.7779C>A (p.Asp2593Glu)
c.7749C>A (p.Asp2583Glu)
c.7674C>A (p.Asp2558Glu)
c.7572C>A (p.Asp2524Glu)
c.7203C>A (p.Asp2401Glu)
dbSNP
5g.112843646C=CA1573475738APCc.8106C= (p.Asp2702=)
c.*8058C= (n.*8058C=)
c.7998C= (p.Asp2666=)
c.8052C= (p.Asp2684=)
c.231-13003C=
c.8082C= (p.Asp2694=)
c.7977C= (p.Asp2659=)
c.7968C= (p.Asp2656=)
c.7929C= (p.Asp2643=)
c.7875C= (p.Asp2625=)
c.7779C= (p.Asp2593=)
c.7749C= (p.Asp2583=)
c.7674C= (p.Asp2558=)
c.7572C= (p.Asp2524=)
c.7203C= (p.Asp2401=)

Number of alleles fetched