| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169541827G>A | CA343118786 | F5 | c.3263C>T (p.Ser1088Phe) c.3278C>T (p.Ser1093Phe) c.2852C>T (p.Ser951Phe) | |
| 1 | g.169541827G>C | CA1233938 | F5 | c.3263C>G (p.Ser1088Cys) c.3278C>G (p.Ser1093Cys) c.2852C>G (p.Ser951Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541827G= | CA1149138072 | F5 | c.3263C= (p.Ser1088=) c.3278C= (p.Ser1093=) c.2852C= (p.Ser951=) | |
| 1 | g.169541827G>T | CA343118788 | F5 | c.3263C>A (p.Ser1088Tyr) c.3278C>A (p.Ser1093Tyr) c.2852C>A (p.Ser951Tyr) | |
| 1 | g.169541828A>C | CA343118790 | F5 | c.3262T>G (p.Ser1088Ala) c.3277T>G (p.Ser1093Ala) c.2851T>G (p.Ser951Ala) | |
| 1 | g.169541828A>G | CA343118791 | F5 | c.3262T>C (p.Ser1088Pro) c.3277T>C (p.Ser1093Pro) c.2851T>C (p.Ser951Pro) | gnomAD v4 |
| 1 | g.169541828A>T | CA343118792 | F5 | c.3262T>A (p.Ser1088Thr) c.3277T>A (p.Ser1093Thr) c.2851T>A (p.Ser951Thr) | |
| 1 | g.169541829G>A | CA421930701 | F5 | c.3261C>T (p.Pro1087=) c.3276C>T (p.Pro1092=) c.2850C>T (p.Pro950=) | |
| 1 | g.169541829G>C | CA10608718 | F5 | c.3261C>G (p.Pro1087=) c.3276C>G (p.Pro1092=) c.2850C>G (p.Pro950=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.169541829G= | CA1206132474 | F5 | c.3261C= (p.Pro1087=) c.3276C= (p.Pro1092=) c.2850C= (p.Pro950=) | |
| 1 | g.169541829G>T | CA421930703 | F5 | c.3261C>A (p.Pro1087=) c.3276C>A (p.Pro1092=) c.2850C>A (p.Pro950=) | |
| 1 | g.169541830G>A | CA343118793 | F5 | c.3260C>T (p.Pro1087Leu) c.3275C>T (p.Pro1092Leu) c.2849C>T (p.Pro950Leu) | gnomAD v4 |
| 1 | g.169541830G>C | CA343118796 | F5 | c.3260C>G (p.Pro1087Arg) c.3275C>G (p.Pro1092Arg) c.2849C>G (p.Pro950Arg) | |
| 1 | g.169541830G>T | CA343118794 | F5 | c.3260C>A (p.Pro1087His) c.3275C>A (p.Pro1092His) c.2849C>A (p.Pro950His) | |
| 1 | g.169541831G>A | CA1233939 | F5 | c.3259C>T (p.Pro1087Ser) c.3274C>T (p.Pro1092Ser) c.2848C>T (p.Pro950Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541831G>C | CA343118798 | F5 | c.3259C>G (p.Pro1087Ala) c.3274C>G (p.Pro1092Ala) c.2848C>G (p.Pro950Ala) | |
| 1 | g.169541831G= | CA1206132475 | F5 | c.3259C= (p.Pro1087=) c.3274C= (p.Pro1092=) c.2848C= (p.Pro950=) | |
| 1 | g.169541831G>T | CA343118800 | F5 | c.3259C>A (p.Pro1087Thr) c.3274C>A (p.Pro1092Thr) c.2848C>A (p.Pro950Thr) | |
| 1 | g.169541832C>A | CA343118802 | F5 | c.3258G>T (p.Leu1086Phe) c.3273G>T (p.Leu1091Phe) c.2847G>T (p.Leu949Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.169541832C= | CA1206132477 | F5 | c.3258G= (p.Leu1086=) c.3273G= (p.Leu1091=) c.2847G= (p.Leu949=) | |
| 1 | g.169541832C>G | CA343118804 | F5 | c.3258G>C (p.Leu1086Phe) c.3273G>C (p.Leu1091Phe) c.2847G>C (p.Leu949Phe) | |
| 1 | g.169541832C>T | CA1233940 | F5 | c.3258G>A (p.Leu1086=) c.3273G>A (p.Leu1091=) c.2847G>A (p.Leu949=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541833A= | CA1141529190 | F5 | c.3257T= (p.Leu1086=) c.3272T= (p.Leu1091=) c.2846T= (p.Leu949=) | |
| 1 | g.169541833A>C | CA343118806 | F5 | c.3257T>G (p.Leu1086Trp) c.3272T>G (p.Leu1091Trp) c.2846T>G (p.Leu949Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541833A>G | CA1233941 | F5 | c.3257T>C (p.Leu1086Ser) c.3272T>C (p.Leu1091Ser) c.2846T>C (p.Leu949Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541833A>T | CA343118808 | F5 | c.3257T>A (p.Leu1086Ter) c.3272T>A (p.Leu1091Ter) c.2846T>A (p.Leu949Ter) | |
| 1 | g.169541834A>C | CA343118810 | F5 | c.3256T>G (p.Leu1086Val) c.3271T>G (p.Leu1091Val) c.2845T>G (p.Leu949Val) | |
| 1 | g.169541834A>G | CA421930708 | F5 | c.3256T>C (p.Leu1086=) c.3271T>C (p.Leu1091=) c.2845T>C (p.Leu949=) | |
| 1 | g.169541834A>T | CA343118812 | F5 | c.3256T>A (p.Leu1086Met) c.3271T>A (p.Leu1091Met) c.2845T>A (p.Leu949Met) | |
| 1 | g.169541835T>A | CA421930710 | F5 | c.3255A>T (p.Thr1085=) c.3270A>T (p.Thr1090=) c.2844A>T (p.Thr948=) | |
| 1 | g.169541835T>C | CA32385355 | F5 | c.3255A>G (p.Thr1085=) c.3270A>G (p.Thr1090=) c.2844A>G (p.Thr948=) | ClinVar dbSNP |
| 1 | g.169541835T>G | CA1233942 | F5 | c.3255A>C (p.Thr1085=) c.3270A>C (p.Thr1090=) c.2844A>C (p.Thr948=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541835T= | CA1139773060 | F5 | c.3255A= (p.Thr1085=) c.3270A= (p.Thr1090=) c.2844A= (p.Thr948=) | |
| 1 | g.169541836G>A | CA343118818 | F5 | c.3254C>T (p.Thr1085Ile) c.3269C>T (p.Thr1090Ile) c.2843C>T (p.Thr948Ile) | gnomAD v4 |
| 1 | g.169541836G>C | CA343118815 | F5 | c.3254C>G (p.Thr1085Arg) c.3269C>G (p.Thr1090Arg) c.2843C>G (p.Thr948Arg) | |
| 1 | g.169541836G>T | CA343118817 | F5 | c.3254C>A (p.Thr1085Lys) c.3269C>A (p.Thr1090Lys) c.2843C>A (p.Thr948Lys) | |
| 1 | g.169541837T>A | CA1233943 | F5 | c.3253A>T (p.Thr1085Ser) c.3268A>T (p.Thr1090Ser) c.2842A>T (p.Thr948Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541837T>C | CA343118821 | F5 | c.3253A>G (p.Thr1085Ala) c.3268A>G (p.Thr1090Ala) c.2842A>G (p.Thr948Ala) | |
| 1 | g.169541837T>G | CA343118823 | F5 | c.3253A>C (p.Thr1085Pro) c.3268A>C (p.Thr1090Pro) c.2842A>C (p.Thr948Pro) | |
| 1 | g.169541837T= | CA1206132482 | F5 | c.3253A= (p.Thr1085=) c.3268A= (p.Thr1090=) c.2842A= (p.Thr948=) | |
| 1 | g.169541838C>A | CA343118825 | F5 | c.3252G>T (p.Gln1084His) c.3267G>T (p.Gln1089His) c.2841G>T (p.Gln947His) | |
| 1 | g.169541838C= | CA1206132483 | F5 | c.3252G= (p.Gln1084=) c.3267G= (p.Gln1089=) c.2841G= (p.Gln947=) | |
| 1 | g.169541838C>G | CA343118827 | F5 | c.3252G>C (p.Gln1084His) c.3267G>C (p.Gln1089His) c.2841G>C (p.Gln947His) | |
| 1 | g.169541838C>T | CA1233944 | F5 | c.3252G>A (p.Gln1084=) c.3267G>A (p.Gln1089=) c.2841G>A (p.Gln947=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541839T>A | CA343118829 | F5 | c.3251A>T (p.Gln1084Leu) c.3266A>T (p.Gln1089Leu) c.2840A>T (p.Gln947Leu) | |
| 1 | g.169541839T>C | CA343118831 | F5 | c.3251A>G (p.Gln1084Arg) c.3266A>G (p.Gln1089Arg) c.2840A>G (p.Gln947Arg) | |
| 1 | g.169541839T>G | CA343118833 | F5 | c.3251A>C (p.Gln1084Pro) c.3266A>C (p.Gln1089Pro) c.2840A>C (p.Gln947Pro) | |
| 1 | g.169541840G>A | CA343118834 | F5 | c.3250C>T (p.Gln1084Ter) c.3265C>T (p.Gln1089Ter) c.2839C>T (p.Gln947Ter) | |
| 1 | g.169541840G>C | CA343118836 | F5 | c.3250C>G (p.Gln1084Glu) c.3265C>G (p.Gln1089Glu) c.2839C>G (p.Gln947Glu) | dbSNP gnomAD v4 |
| 1 | g.169541840G= | CA1206132485 | F5 | c.3250C= (p.Gln1084=) c.3265C= (p.Gln1089=) c.2839C= (p.Gln947=) | |
| 1 | g.169541840G>T | CA343118838 | F5 | c.3250C>A (p.Gln1084Lys) c.3265C>A (p.Gln1089Lys) c.2839C>A (p.Gln947Lys) | |
| 1 | g.169541841A>C | CA343118839 | F5 | c.3249T>G (p.Asn1083Lys) c.3264T>G (p.Asn1088Lys) c.2838T>G (p.Asn946Lys) | |
| 1 | g.169541841A>G | CA421930721 | F5 | c.3249T>C (p.Asn1083=) c.3264T>C (p.Asn1088=) c.2838T>C (p.Asn946=) | |
| 1 | g.169541841A>T | CA343118841 | F5 | c.3249T>A (p.Asn1083Lys) c.3264T>A (p.Asn1088Lys) c.2838T>A (p.Asn946Lys) | |
| 1 | g.169541842T>A | CA343118843 | F5 | c.3248A>T (p.Asn1083Ile) c.3263A>T (p.Asn1088Ile) c.2837A>T (p.Asn946Ile) | |
| 1 | g.169541842T>C | CA343118846 | F5 | c.3248A>G (p.Asn1083Ser) c.3263A>G (p.Asn1088Ser) c.2837A>G (p.Asn946Ser) | dbSNP gnomAD v4 |
| 1 | g.169541842T>G | CA343118845 | F5 | c.3248A>C (p.Asn1083Thr) c.3263A>C (p.Asn1088Thr) c.2837A>C (p.Asn946Thr) | |
| 1 | g.169541842T= | CA1206132487 | F5 | c.3248A= (p.Asn1083=) c.3263A= (p.Asn1088=) c.2837A= (p.Asn946=) | |
| 1 | g.169541843T>A | CA343118848 | F5 | c.3247A>T (p.Asn1083Tyr) c.3262A>T (p.Asn1088Tyr) c.2836A>T (p.Asn946Tyr) | gnomAD v4 |
| 1 | g.169541843T>C | CA343118850 | F5 | c.3247A>G (p.Asn1083Asp) c.3262A>G (p.Asn1088Asp) c.2836A>G (p.Asn946Asp) | |
| 1 | g.169541843T>G | CA343118852 | F5 | c.3247A>C (p.Asn1083His) c.3262A>C (p.Asn1088His) c.2836A>C (p.Asn946His) | gnomAD v4 |
| 1 | g.169541844G>A | CA421930723 | F5 | c.3246C>T (p.Leu1082=) c.3261C>T (p.Leu1087=) c.2835C>T (p.Leu945=) | |
| 1 | g.169541844G>C | CA421930724 | F5 | c.3246C>G (p.Leu1082=) c.3261C>G (p.Leu1087=) c.2835C>G (p.Leu945=) | |
| 1 | g.169541844G>T | CA421930726 | F5 | c.3246C>A (p.Leu1082=) c.3261C>A (p.Leu1087=) c.2835C>A (p.Leu945=) | |
| 1 | g.169541845A>C | CA343118854 | F5 | c.3245T>G (p.Leu1082Arg) c.3260T>G (p.Leu1087Arg) c.2834T>G (p.Leu945Arg) | |
| 1 | g.169541845A>G | CA343118856 | F5 | c.3245T>C (p.Leu1082Pro) c.3260T>C (p.Leu1087Pro) c.2834T>C (p.Leu945Pro) | |
| 1 | g.169541845A>T | CA343118857 | F5 | c.3245T>A (p.Leu1082His) c.3260T>A (p.Leu1087His) c.2834T>A (p.Leu945His) | |
| 1 | g.169541846G>A | CA343118859 | F5 | c.3244C>T (p.Leu1082Phe) c.3259C>T (p.Leu1087Phe) c.2833C>T (p.Leu945Phe) | |
| 1 | g.169541846G>C | CA343118861 | F5 | c.3244C>G (p.Leu1082Val) c.3259C>G (p.Leu1087Val) c.2833C>G (p.Leu945Val) | dbSNP gnomAD v4 |
| 1 | g.169541846G= | CA1206132488 | F5 | c.3244C= (p.Leu1082=) c.3259C= (p.Leu1087=) c.2833C= (p.Leu945=) | |
| 1 | g.169541846G>T | CA343118862 | F5 | c.3244C>A (p.Leu1082Ile) c.3259C>A (p.Leu1087Ile) c.2833C>A (p.Leu945Ile) | |
| 1 | g.169541847G>A | CA1233945 | F5 | c.3243C>T (p.Asp1081=) c.3258C>T (p.Asp1086=) c.2832C>T (p.Asp944=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.169541847G>C | CA343118865 | F5 | c.3243C>G (p.Asp1081Glu) c.3258C>G (p.Asp1086Glu) c.2832C>G (p.Asp944Glu) | |
| 1 | g.169541847G= | CA1141733277 | F5 | c.3243C= (p.Asp1081=) c.3258C= (p.Asp1086=) c.2832C= (p.Asp944=) | |
| 1 | g.169541847G>T | CA343118867 | F5 | c.3243C>A (p.Asp1081Glu) c.3258C>A (p.Asp1086Glu) c.2832C>A (p.Asp944Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541848T>A | CA343118872 | F5 | c.3242A>T (p.Asp1081Val) c.3257A>T (p.Asp1086Val) c.2831A>T (p.Asp944Val) | |
| 1 | g.169541848T>C | CA343118871 | F5 | c.3242A>G (p.Asp1081Gly) c.3257A>G (p.Asp1086Gly) c.2831A>G (p.Asp944Gly) | |
| 1 | g.169541848T>G | CA343118869 | F5 | c.3242A>C (p.Asp1081Ala) c.3257A>C (p.Asp1086Ala) c.2831A>C (p.Asp944Ala) | |
| 1 | g.169541849C>A | CA343118874 | F5 | c.3241G>T (p.Asp1081Tyr) c.3256G>T (p.Asp1086Tyr) c.2830G>T (p.Asp944Tyr) | |
| 1 | g.169541849C>G | CA343118876 | F5 | c.3241G>C (p.Asp1081His) c.3256G>C (p.Asp1086His) c.2830G>C (p.Asp944His) | |
| 1 | g.169541849C>T | CA343118878 | F5 | c.3241G>A (p.Asp1081Asn) c.3256G>A (p.Asp1086Asn) c.2830G>A (p.Asp944Asn) | |
| 1 | g.169541850T>A | CA421930732 | F5 | c.3240A>T (p.Thr1080=) c.3255A>T (p.Thr1085=) c.2829A>T (p.Thr943=) | |
| 1 | g.169541850T>C | CA421930733 | F5 | c.3240A>G (p.Thr1080=) c.3255A>G (p.Thr1085=) c.2829A>G (p.Thr943=) | gnomAD v4 |
| 1 | g.169541850T>G | CA421930735 | F5 | c.3240A>C (p.Thr1080=) c.3255A>C (p.Thr1085=) c.2829A>C (p.Thr943=) | |
| 1 | g.169541851G>A | CA1233946 | F5 | c.3239C>T (p.Thr1080Ile) c.3254C>T (p.Thr1085Ile) c.2828C>T (p.Thr943Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541851G>C | CA343118880 | F5 | c.3239C>G (p.Thr1080Arg) c.3254C>G (p.Thr1085Arg) c.2828C>G (p.Thr943Arg) | |
| 1 | g.169541851G= | CA1144136025 | F5 | c.3239C= (p.Thr1080=) c.3254C= (p.Thr1085=) c.2828C= (p.Thr943=) | |
| 1 | g.169541851G>T | CA343118882 | F5 | c.3239C>A (p.Thr1080Lys) c.3254C>A (p.Thr1085Lys) c.2828C>A (p.Thr943Lys) | |
| 1 | g.169541852T>A | CA343118884 | F5 | c.3238A>T (p.Thr1080Ser) c.3253A>T (p.Thr1085Ser) c.2827A>T (p.Thr943Ser) | |
| 1 | g.169541852T>C | CA343118886 | F5 | c.3238A>G (p.Thr1080Ala) c.3253A>G (p.Thr1085Ala) c.2827A>G (p.Thr943Ala) | gnomAD v4 |
| 1 | g.169541852T>G | CA343118888 | F5 | c.3238A>C (p.Thr1080Pro) c.3253A>C (p.Thr1085Pro) c.2827A>C (p.Thr943Pro) | |
| 1 | g.169541853G>A | CA421930738 | F5 | c.3237C>T (p.Pro1079=) c.3252C>T (p.Pro1084=) c.2826C>T (p.Pro942=) | dbSNP |
| 1 | g.169541853G>C | CA421930736 | F5 | c.3237C>G (p.Pro1079=) c.3252C>G (p.Pro1084=) c.2826C>G (p.Pro942=) | |
| 1 | g.169541853G= | CA1206132491 | F5 | c.3237C= (p.Pro1079=) c.3252C= (p.Pro1084=) c.2826C= (p.Pro942=) | |
| 1 | g.169541853G>T | CA421930737 | F5 | c.3237C>A (p.Pro1079=) c.3252C>A (p.Pro1084=) c.2826C>A (p.Pro942=) | |
| 1 | g.169541854G>A | CA343118890 | F5 | c.3236C>T (p.Pro1079Leu) c.3251C>T (p.Pro1084Leu) c.2825C>T (p.Pro942Leu) | |
| 1 | g.169541854G>C | CA343118892 | F5 | c.3236C>G (p.Pro1079Arg) c.3251C>G (p.Pro1084Arg) c.2825C>G (p.Pro942Arg) | |
| 1 | g.169541854G>T | CA343118894 | F5 | c.3236C>A (p.Pro1079His) c.3251C>A (p.Pro1084His) c.2825C>A (p.Pro942His) | |
| 1 | g.169541855G>A | CA343118898 | F5 | c.3235C>T (p.Pro1079Ser) c.3250C>T (p.Pro1084Ser) c.2824C>T (p.Pro942Ser) | gnomAD v4 COSMIC |
| 1 | g.169541855G>C | CA343118897 | F5 | c.3235C>G (p.Pro1079Ala) c.3250C>G (p.Pro1084Ala) c.2824C>G (p.Pro942Ala) | gnomAD v4 |
| 1 | g.169541855G>T | CA343118895 | F5 | c.3235C>A (p.Pro1079Thr) c.3250C>A (p.Pro1084Thr) c.2824C>A (p.Pro942Thr) | |
| 1 | g.169541856A= | CA1206132492 | F5 | c.3234T= (p.Leu1078=) c.3249T= (p.Leu1083=) c.2823T= (p.Leu941=) | |
| 1 | g.169541856A>C | CA421930742 | F5 | c.3234T>G (p.Leu1078=) c.3249T>G (p.Leu1083=) c.2823T>G (p.Leu941=) | |
| 1 | g.169541856A>G | CA421930743 | F5 | c.3234T>C (p.Leu1078=) c.3249T>C (p.Leu1083=) c.2823T>C (p.Leu941=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.169541856A>T | CA421930744 | F5 | c.3234T>A (p.Leu1078=) c.3249T>A (p.Leu1083=) c.2823T>A (p.Leu941=) | |
| 1 | g.169541857A>C | CA343118901 | F5 | c.3233T>G (p.Leu1078Arg) c.3248T>G (p.Leu1083Arg) c.2822T>G (p.Leu941Arg) | gnomAD v4 |
| 1 | g.169541857A>G | CA343118902 | F5 | c.3233T>C (p.Leu1078Pro) c.3248T>C (p.Leu1083Pro) c.2822T>C (p.Leu941Pro) | |
| 1 | g.169541857A>T | CA343118904 | F5 | c.3233T>A (p.Leu1078His) c.3248T>A (p.Leu1083His) c.2822T>A (p.Leu941His) | |
| 1 | g.169541858G>A | CA343118906 | F5 | c.3232C>T (p.Leu1078Phe) c.3247C>T (p.Leu1083Phe) c.2821C>T (p.Leu941Phe) | |
| 1 | g.169541858G>C | CA343118908 | F5 | c.3232C>G (p.Leu1078Val) c.3247C>G (p.Leu1083Val) c.2821C>G (p.Leu941Val) | |
| 1 | g.169541858G>T | CA343118909 | F5 | c.3232C>A (p.Leu1078Ile) c.3247C>A (p.Leu1083Ile) c.2821C>A (p.Leu941Ile) | |
| 1 | g.169541859A>C | CA421930749 | F5 | c.3231T>G (p.Ser1077=) c.3246T>G (p.Ser1082=) c.2820T>G (p.Ser940=) | |
| 1 | g.169541859A>G | CA421930748 | F5 | c.3231T>C (p.Ser1077=) c.3246T>C (p.Ser1082=) c.2820T>C (p.Ser940=) | |
| 1 | g.169541859A>T | CA421930751 | F5 | c.3231T>A (p.Ser1077=) c.3246T>A (p.Ser1082=) c.2820T>A (p.Ser940=) | |
| 1 | g.169541860G>A | CA343118911 | F5 | c.3230C>T (p.Ser1077Phe) c.3245C>T (p.Ser1082Phe) c.2819C>T (p.Ser940Phe) | |
| 1 | g.169541860G>C | CA1233947 | F5 | c.3230C>G (p.Ser1077Cys) c.3245C>G (p.Ser1082Cys) c.2819C>G (p.Ser940Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541860G= | CA1206132494 | F5 | c.3230C= (p.Ser1077=) c.3245C= (p.Ser1082=) c.2819C= (p.Ser940=) | |
| 1 | g.169541860G>T | CA343118913 | F5 | c.3230C>A (p.Ser1077Tyr) c.3245C>A (p.Ser1082Tyr) c.2819C>A (p.Ser940Tyr) | |
| 1 | g.169541861A= | CA1206132495 | F5 | c.3229T= (p.Ser1077=) c.3244T= (p.Ser1082=) c.2818T= (p.Ser940=) | |
| 1 | g.169541861A>C | CA343118916 | F5 | c.3229T>G (p.Ser1077Ala) c.3244T>G (p.Ser1082Ala) c.2818T>G (p.Ser940Ala) | |
| 1 | g.169541861A>G | CA343118918 | F5 | c.3229T>C (p.Ser1077Pro) c.3244T>C (p.Ser1082Pro) c.2818T>C (p.Ser940Pro) | dbSNP gnomAD v4 |
| 1 | g.169541861A>T | CA343118919 | F5 | c.3229T>A (p.Ser1077Thr) c.3244T>A (p.Ser1082Thr) c.2818T>A (p.Ser940Thr) | gnomAD v4 |
| 1 | g.169541862T>A | CA421930753 | F5 | c.3228A>T (p.Thr1076=) c.3243A>T (p.Thr1081=) c.2817A>T (p.Thr939=) | dbSNP |
| 1 | g.169541862T>C | CA421930755 | F5 | c.3228A>G (p.Thr1076=) c.3243A>G (p.Thr1081=) c.2817A>G (p.Thr939=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541862T>G | CA421930757 | F5 | c.3228A>C (p.Thr1076=) c.3243A>C (p.Thr1081=) c.2817A>C (p.Thr939=) | |
| 1 | g.169541862T= | CA1206132497 | F5 | c.3228A= (p.Thr1076=) c.3243A= (p.Thr1081=) c.2817A= (p.Thr939=) | |
| 1 | g.169541863_169541864del | CA2649035386 | F5 | c.3227_3228del (p.Thr1076IlefsTer23) c.3242_3243del (p.Thr1081IlefsTer23) c.2816_2817del (p.Thr939IlefsTer23) | gnomAD v4 |
| 1 | g.169541863del | CA2649035390 | F5 | c.3227del (p.Thr1076AsnfsTer19) c.3242del (p.Thr1081AsnfsTer19) c.2816del (p.Thr939AsnfsTer19) | gnomAD v4 |
| 1 | g.169541863G>A | CA343118922 | F5 | c.3227C>T (p.Thr1076Ile) c.3242C>T (p.Thr1081Ile) c.2816C>T (p.Thr939Ile) | gnomAD v4 |
| 1 | g.169541863G>C | CA343118923 | F5 | c.3227C>G (p.Thr1076Arg) c.3242C>G (p.Thr1081Arg) c.2816C>G (p.Thr939Arg) | |
| 1 | g.169541863G>T | CA343118921 | F5 | c.3227C>A (p.Thr1076Lys) c.3242C>A (p.Thr1081Lys) c.2816C>A (p.Thr939Lys) | |
| 1 | g.169541864T>A | CA343118925 | F5 | c.3226A>T (p.Thr1076Ser) c.3241A>T (p.Thr1081Ser) c.2815A>T (p.Thr939Ser) | dbSNP |
| 1 | g.169541864T>C | CA343118927 | F5 | c.3226A>G (p.Thr1076Ala) c.3241A>G (p.Thr1081Ala) c.2815A>G (p.Thr939Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.169541864T>G | CA343118929 | F5 | c.3226A>C (p.Thr1076Pro) c.3241A>C (p.Thr1081Pro) c.2815A>C (p.Thr939Pro) | |
| 1 | g.169541864T= | CA1206132499 | F5 | c.3226A= (p.Thr1076=) c.3241A= (p.Thr1081=) c.2815A= (p.Thr939=) | |
| 1 | g.169541865T>A | CA343118930 | F5 | c.3225A>T (p.Glu1075Asp) c.3240A>T (p.Glu1080Asp) c.2814A>T (p.Glu938Asp) | |
| 1 | g.169541865T>C | CA421930759 | F5 | c.3225A>G (p.Glu1075=) c.3240A>G (p.Glu1080=) c.2814A>G (p.Glu938=) | gnomAD v4 |
| 1 | g.169541865T>G | CA343118932 | F5 | c.3225A>C (p.Glu1075Asp) c.3240A>C (p.Glu1080Asp) c.2814A>C (p.Glu938Asp) | |
| 1 | g.169541866T>A | CA343118936 | F5 | c.3224A>T (p.Glu1075Val) c.3239A>T (p.Glu1080Val) c.2813A>T (p.Glu938Val) | |
| 1 | g.169541866T>C | CA343118933 | F5 | c.3224A>G (p.Glu1075Gly) c.3239A>G (p.Glu1080Gly) c.2813A>G (p.Glu938Gly) | |
| 1 | g.169541866T>G | CA343118934 | F5 | c.3224A>C (p.Glu1075Ala) c.3239A>C (p.Glu1080Ala) c.2813A>C (p.Glu938Ala) | |
| 1 | g.169541867C>A | CA343118938 | F5 | c.3223G>T (p.Glu1075Ter) c.3238G>T (p.Glu1080Ter) c.2812G>T (p.Glu938Ter) | |
| 1 | g.169541867C>G | CA343118940 | F5 | c.3223G>C (p.Glu1075Gln) c.3238G>C (p.Glu1080Gln) c.2812G>C (p.Glu938Gln) | |
| 1 | g.169541867C>T | CA343118941 | F5 | c.3223G>A (p.Glu1075Lys) c.3238G>A (p.Glu1080Lys) c.2812G>A (p.Glu938Lys) | |
| 1 | g.169541868A>C | CA343118943 | F5 | c.3222T>G (p.Asn1074Lys) c.3237T>G (p.Asn1079Lys) c.2811T>G (p.Asn937Lys) | |
| 1 | g.169541868A>G | CA421930765 | F5 | c.3222T>C (p.Asn1074=) c.3237T>C (p.Asn1079=) c.2811T>C (p.Asn937=) | |
| 1 | g.169541868A>T | CA343118945 | F5 | c.3222T>A (p.Asn1074Lys) c.3237T>A (p.Asn1079Lys) c.2811T>A (p.Asn937Lys) | |
| 1 | g.169541869T>A | CA343118947 | F5 | c.3221A>T (p.Asn1074Ile) c.3236A>T (p.Asn1079Ile) c.2810A>T (p.Asn937Ile) | gnomAD v4 |
| 1 | g.169541869T>C | CA1233948 | F5 | c.3221A>G (p.Asn1074Ser) c.3236A>G (p.Asn1079Ser) c.2810A>G (p.Asn937Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.169541869T>G | CA343118949 | F5 | c.3221A>C (p.Asn1074Thr) c.3236A>C (p.Asn1079Thr) c.2810A>C (p.Asn937Thr) | |
| 1 | g.169541869T= | CA1143406949 | F5 | c.3221A= (p.Asn1074=) c.3236A= (p.Asn1079=) c.2810A= (p.Asn937=) | |
| 1 | g.169541870T>A | CA1233950 | F5 | c.3220A>T (p.Asn1074Tyr) c.3235A>T (p.Asn1079Tyr) c.2809A>T (p.Asn937Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541870T>C | CA1233949 | F5 | c.3220A>G (p.Asn1074Asp) c.3235A>G (p.Asn1079Asp) c.2809A>G (p.Asn937Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541870T>G | CA343118952 | F5 | c.3220A>C (p.Asn1074His) c.3235A>C (p.Asn1079His) c.2809A>C (p.Asn937His) | |
| 1 | g.169541870T= | CA1143672666 | F5 | c.3220A= (p.Asn1074=) c.3235A= (p.Asn1079=) c.2809A= (p.Asn937=) | |
| 1 | g.169541871G>A | CA1233951 | F5 | c.3219C>T (p.Ser1073=) c.3234C>T (p.Ser1078=) c.2808C>T (p.Ser936=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.169541871G>C | CA421930771 | F5 | c.3219C>G (p.Ser1073=) c.3234C>G (p.Ser1078=) c.2808C>G (p.Ser936=) | |
| 1 | g.169541871G= | CA1206132502 | F5 | c.3219C= (p.Ser1073=) c.3234C= (p.Ser1078=) c.2808C= (p.Ser936=) | |
| 1 | g.169541871G>T | CA421930773 | F5 | c.3219C>A (p.Ser1073=) c.3234C>A (p.Ser1078=) c.2808C>A (p.Ser936=) | |
| 1 | g.169541872G>A | CA343118954 | F5 | c.3218C>T (p.Ser1073Phe) c.3233C>T (p.Ser1078Phe) c.2807C>T (p.Ser936Phe) | |
| 1 | g.169541872G>C | CA343118956 | F5 | c.3218C>G (p.Ser1073Cys) c.3233C>G (p.Ser1078Cys) c.2807C>G (p.Ser936Cys) | |
| 1 | g.169541872G>T | CA343118958 | F5 | c.3218C>A (p.Ser1073Tyr) c.3233C>A (p.Ser1078Tyr) c.2807C>A (p.Ser936Tyr) | |
| 1 | g.169541873A>C | CA343118960 | F5 | c.3217T>G (p.Ser1073Ala) c.3232T>G (p.Ser1078Ala) c.2806T>G (p.Ser936Ala) | |
| 1 | g.169541873A>G | CA343118961 | F5 | c.3217T>C (p.Ser1073Pro) c.3232T>C (p.Ser1078Pro) c.2806T>C (p.Ser936Pro) | |
| 1 | g.169541873A>T | CA343118963 | F5 | c.3217T>A (p.Ser1073Thr) c.3232T>A (p.Ser1078Thr) c.2806T>A (p.Ser936Thr) | |
| 1 | g.169541874T>A | CA343118965 | F5 | c.3216A>T (p.Lys1072Asn) c.3231A>T (p.Lys1077Asn) c.2805A>T (p.Lys935Asn) | |
| 1 | g.169541874T>C | CA421930777 | F5 | c.3216A>G (p.Lys1072=) c.3231A>G (p.Lys1077=) c.2805A>G (p.Lys935=) | |
| 1 | g.169541874T>G | CA343118966 | F5 | c.3216A>C (p.Lys1072Asn) c.3231A>C (p.Lys1077Asn) c.2805A>C (p.Lys935Asn) | |
| 1 | g.169541875T>A | CA343118969 | F5 | c.3215A>T (p.Lys1072Ile) c.3230A>T (p.Lys1077Ile) c.2804A>T (p.Lys935Ile) | |
| 1 | g.169541875T>C | CA343118970 | F5 | c.3215A>G (p.Lys1072Arg) c.3230A>G (p.Lys1077Arg) c.2804A>G (p.Lys935Arg) | |
| 1 | g.169541875T>G | CA343118971 | F5 | c.3215A>C (p.Lys1072Thr) c.3230A>C (p.Lys1077Thr) c.2804A>C (p.Lys935Thr) | |
| 1 | g.169541876T>A | CA343118972 | F5 | c.3214A>T (p.Lys1072Ter) c.3229A>T (p.Lys1077Ter) c.2803A>T (p.Lys935Ter) | |
| 1 | g.169541876T>C | CA343118973 | F5 | c.3214A>G (p.Lys1072Glu) c.3229A>G (p.Lys1077Glu) c.2803A>G (p.Lys935Glu) | |
| 1 | g.169541876T>G | CA343118974 | F5 | c.3214A>C (p.Lys1072Gln) c.3229A>C (p.Lys1077Gln) c.2803A>C (p.Lys935Gln) | |
| 1 | g.169541877A= | CA1206132504 | F5 | c.3213T= (p.His1071=) c.3228T= (p.His1076=) c.2802T= (p.His934=) | |
| 1 | g.169541877A>C | CA343118976 | F5 | c.3213T>G (p.His1071Gln) c.3228T>G (p.His1076Gln) c.2802T>G (p.His934Gln) | |
| 1 | g.169541877A>G | CA421930780 | F5 | c.3213T>C (p.His1071=) c.3228T>C (p.His1076=) c.2802T>C (p.His934=) | dbSNP |
| 1 | g.169541877A>T | CA343118977 | F5 | c.3213T>A (p.His1071Gln) c.3228T>A (p.His1076Gln) c.2802T>A (p.His934Gln) | |
| 1 | g.169541878T>A | CA343118979 | F5 | c.3212A>T (p.His1071Leu) c.3227A>T (p.His1076Leu) c.2801A>T (p.His934Leu) | COSMIC |
| 1 | g.169541878T>C | CA343118981 | F5 | c.3212A>G (p.His1071Arg) c.3227A>G (p.His1076Arg) c.2801A>G (p.His934Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541878T>G | CA343118983 | F5 | c.3212A>C (p.His1071Pro) c.3227A>C (p.His1076Pro) c.2801A>C (p.His934Pro) | dbSNP |
| 1 | g.169541878T= | CA1206132505 | F5 | c.3212A= (p.His1071=) c.3227A= (p.His1076=) c.2801A= (p.His934=) | |
| 1 | g.169541879G>A | CA1233952 | F5 | c.3211C>T (p.His1071Tyr) c.3226C>T (p.His1076Tyr) c.2800C>T (p.His934Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541879G>C | CA343118986 | F5 | c.3211C>G (p.His1071Asp) c.3226C>G (p.His1076Asp) c.2800C>G (p.His934Asp) | |
| 1 | g.169541879G= | CA1142114343 | F5 | c.3211C= (p.His1071=) c.3226C= (p.His1076=) c.2800C= (p.His934=) | |
| 1 | g.169541879G>T | CA343118988 | F5 | c.3211C>A (p.His1071Asn) c.3226C>A (p.His1076Asn) c.2800C>A (p.His934Asn) | |
| 1 | g.169541880A>C | CA421930789 | F5 | c.3210T>G (p.Leu1070=) c.3225T>G (p.Leu1075=) c.2799T>G (p.Leu933=) | |
| 1 | g.169541880A>G | CA421930788 | F5 | c.3210T>C (p.Leu1070=) c.3225T>C (p.Leu1075=) c.2799T>C (p.Leu933=) | |
| 1 | g.169541880A>T | CA421930787 | F5 | c.3210T>A (p.Leu1070=) c.3225T>A (p.Leu1075=) c.2799T>A (p.Leu933=) | |
| 1 | g.169541881A>C | CA343118990 | F5 | c.3209T>G (p.Leu1070Arg) c.3224T>G (p.Leu1075Arg) c.2798T>G (p.Leu933Arg) | |
| 1 | g.169541881A>G | CA343118992 | F5 | c.3209T>C (p.Leu1070Pro) c.3224T>C (p.Leu1075Pro) c.2798T>C (p.Leu933Pro) | |
| 1 | g.169541881A>T | CA343118993 | F5 | c.3209T>A (p.Leu1070His) c.3224T>A (p.Leu1075His) c.2798T>A (p.Leu933His) | |
| 1 | g.169541882G>A | CA343118996 | F5 | c.3208C>T (p.Leu1070Phe) c.3223C>T (p.Leu1075Phe) c.2797C>T (p.Leu933Phe) | gnomAD v4 |
| 1 | g.169541882G>C | CA343118998 | F5 | c.3208C>G (p.Leu1070Val) c.3223C>G (p.Leu1075Val) c.2797C>G (p.Leu933Val) | |
| 1 | g.169541882G>T | CA343118999 | F5 | c.3208C>A (p.Leu1070Ile) c.3223C>A (p.Leu1075Ile) c.2797C>A (p.Leu933Ile) | |
| 1 | g.169541883C>A | CA421930795 | F5 | c.3207G>T (p.Val1069=) c.3222G>T (p.Val1074=) c.2796G>T (p.Val932=) | |
| 1 | g.169541883C>G | CA421930793 | F5 | c.3207G>C (p.Val1069=) c.3222G>C (p.Val1074=) c.2796G>C (p.Val932=) | |
| 1 | g.169541883C>T | CA421930792 | F5 | c.3207G>A (p.Val1069=) c.3222G>A (p.Val1074=) c.2796G>A (p.Val932=) | |
| 1 | g.169541884A>C | CA343119000 | F5 | c.3206T>G (p.Val1069Gly) c.3221T>G (p.Val1074Gly) c.2795T>G (p.Val932Gly) | |
| 1 | g.169541884A>G | CA343119003 | F5 | c.3206T>C (p.Val1069Ala) c.3221T>C (p.Val1074Ala) c.2795T>C (p.Val932Ala) | |
| 1 | g.169541884A>T | CA343119002 | F5 | c.3206T>A (p.Val1069Glu) c.3221T>A (p.Val1074Glu) c.2795T>A (p.Val932Glu) | |
| 1 | g.169541885C>A | CA343119006 | F5 | c.3205G>T (p.Val1069Leu) c.3220G>T (p.Val1074Leu) c.2794G>T (p.Val932Leu) | |
| 1 | g.169541885C= | CA1206132508 | F5 | c.3205G= (p.Val1069=) c.3220G= (p.Val1074=) c.2794G= (p.Val932=) | |
| 1 | g.169541885C>G | CA343119007 | F5 | c.3205G>C (p.Val1069Leu) c.3220G>C (p.Val1074Leu) c.2794G>C (p.Val932Leu) | |
| 1 | g.169541885C>T | CA343119008 | F5 | c.3205G>A (p.Val1069Met) c.3220G>A (p.Val1074Met) c.2794G>A (p.Val932Met) | dbSNP gnomAD v2 |
| 1 | g.169541886C>A | CA343119010 | F5 | c.3204G>T (p.Leu1068Phe) c.3219G>T (p.Leu1073Phe) c.2793G>T (p.Leu931Phe) | |
| 1 | g.169541886C>G | CA343119012 | F5 | c.3204G>C (p.Leu1068Phe) c.3219G>C (p.Leu1073Phe) c.2793G>C (p.Leu931Phe) | |
| 1 | g.169541886C>T | CA421930796 | F5 | c.3204G>A (p.Leu1068=) c.3219G>A (p.Leu1073=) c.2793G>A (p.Leu931=) | |
| 1 | g.169541887A>C | CA343119013 | F5 | c.3203T>G (p.Leu1068Trp) c.3218T>G (p.Leu1073Trp) c.2792T>G (p.Leu931Trp) | |
| 1 | g.169541887A>G | CA343119014 | F5 | c.3203T>C (p.Leu1068Ser) c.3218T>C (p.Leu1073Ser) c.2792T>C (p.Leu931Ser) | |
| 1 | g.169541887A>T | CA343119016 | F5 | c.3203T>A (p.Leu1068Ter) c.3218T>A (p.Leu1073Ter) c.2792T>A (p.Leu931Ter) | |
| 1 | g.169541888A>C | CA343119018 | F5 | c.3202T>G (p.Leu1068Val) c.3217T>G (p.Leu1073Val) c.2791T>G (p.Leu931Val) | |
| 1 | g.169541888A>G | CA421930798 | F5 | c.3202T>C (p.Leu1068=) c.3217T>C (p.Leu1073=) c.2791T>C (p.Leu931=) | |
| 1 | g.169541888A>T | CA343119020 | F5 | c.3202T>A (p.Leu1068Met) c.3217T>A (p.Leu1073Met) c.2791T>A (p.Leu931Met) | |
| 1 | g.169541889C>A | CA421930592 | F5 | c.3201G>T (p.Ser1067=) c.3216G>T (p.Ser1072=) c.2790G>T (p.Ser930=) | dbSNP gnomAD v4 |
| 1 | g.169541889C= | CA1144554704 | F5 | c.3201G= (p.Ser1067=) c.3216G= (p.Ser1072=) c.2790G= (p.Ser930=) | |
| 1 | g.169541889C>G | CA421930595 | F5 | c.3201G>C (p.Ser1067=) c.3216G>C (p.Ser1072=) c.2790G>C (p.Ser930=) | |
| 1 | g.169541889C>T | CA1233953 | F5 | c.3201G>A (p.Ser1067=) c.3216G>A (p.Ser1072=) c.2790G>A (p.Ser930=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541890G>A | CA32385367 | F5 | c.3200C>T (p.Ser1067Leu) c.3215C>T (p.Ser1072Leu) c.2789C>T (p.Ser930Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.169541890G>C | CA343119025 | F5 | c.3200C>G (p.Ser1067Trp) c.3215C>G (p.Ser1072Trp) c.2789C>G (p.Ser930Trp) | |
| 1 | g.169541890G= | CA1206132510 | F5 | c.3200C= (p.Ser1067=) c.3215C= (p.Ser1072=) c.2789C= (p.Ser930=) | |
| 1 | g.169541890G>T | CA343119023 | F5 | c.3200C>A (p.Ser1067Ter) c.3215C>A (p.Ser1072Ter) c.2789C>A (p.Ser930Ter) | |
| 1 | g.169541891A>C | CA343119027 | F5 | c.3199T>G (p.Ser1067Ala) c.3214T>G (p.Ser1072Ala) c.2788T>G (p.Ser930Ala) | |
| 1 | g.169541891A>G | CA343119029 | F5 | c.3199T>C (p.Ser1067Pro) c.3214T>C (p.Ser1072Pro) c.2788T>C (p.Ser930Pro) | |
| 1 | g.169541891A>T | CA343119030 | F5 | c.3199T>A (p.Ser1067Thr) c.3214T>A (p.Ser1072Thr) c.2788T>A (p.Ser930Thr) | |
| 1 | g.169541892A>C | CA343119032 | F5 | c.3198T>G (p.His1066Gln) c.3213T>G (p.His1071Gln) c.2787T>G (p.His929Gln) | |
| 1 | g.169541892A>G | CA421930603 | F5 | c.3198T>C (p.His1066=) c.3213T>C (p.His1071=) c.2787T>C (p.His929=) | |
| 1 | g.169541892A>T | CA343119034 | F5 | c.3198T>A (p.His1066Gln) c.3213T>A (p.His1071Gln) c.2787T>A (p.His929Gln) | |
| 1 | g.169541893T>A | CA343119036 | F5 | c.3197A>T (p.His1066Leu) c.3212A>T (p.His1071Leu) c.2786A>T (p.His929Leu) | |
| 1 | g.169541893T>C | CA343119037 | F5 | c.3197A>G (p.His1066Arg) c.3212A>G (p.His1071Arg) c.2786A>G (p.His929Arg) | gnomAD v4 |
| 1 | g.169541893T>G | CA343119039 | F5 | c.3197A>C (p.His1066Pro) c.3212A>C (p.His1071Pro) c.2786A>C (p.His929Pro) | |
| 1 | g.169541894G>A | CA343119041 | F5 | c.3196C>T (p.His1066Tyr) c.3211C>T (p.His1071Tyr) c.2785C>T (p.His929Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541894G>C | CA343119043 | F5 | c.3196C>G (p.His1066Asp) c.3211C>G (p.His1071Asp) c.2785C>G (p.His929Asp) | |
| 1 | g.169541894G= | CA1206132511 | F5 | c.3196C= (p.His1066=) c.3211C= (p.His1071=) c.2785C= (p.His929=) | |
| 1 | g.169541894G>T | CA343119045 | F5 | c.3196C>A (p.His1066Asn) c.3211C>A (p.His1071Asn) c.2785C>A (p.His929Asn) | |
| 1 | g.169541895C>A | CA343119049 | F5 | c.3195G>T (p.Lys1065Asn) c.3210G>T (p.Lys1070Asn) c.2784G>T (p.Lys928Asn) | |
| 1 | g.169541895C= | CA1145958100 | F5 | c.3195G= (p.Lys1065=) c.3210G= (p.Lys1070=) c.2784G= (p.Lys928=) | |
| 1 | g.169541895C>G | CA343119047 | F5 | c.3195G>C (p.Lys1065Asn) c.3210G>C (p.Lys1070Asn) c.2784G>C (p.Lys928Asn) | |
| 1 | g.169541895C>T | CA32385369 | F5 | c.3195G>A (p.Lys1065=) c.3210G>A (p.Lys1070=) c.2784G>A (p.Lys928=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541896T>A | CA343119050 | F5 | c.3194A>T (p.Lys1065Met) c.3209A>T (p.Lys1070Met) c.2783A>T (p.Lys928Met) | |
| 1 | g.169541896T>C | CA343119054 | F5 | c.3194A>G (p.Lys1065Arg) c.3209A>G (p.Lys1070Arg) c.2783A>G (p.Lys928Arg) | |
| 1 | g.169541896T>G | CA343119052 | F5 | c.3194A>C (p.Lys1065Thr) c.3209A>C (p.Lys1070Thr) c.2783A>C (p.Lys928Thr) | |
| 1 | g.169541897T>A | CA343119055 | F5 | c.3193A>T (p.Lys1065Ter) c.3208A>T (p.Lys1070Ter) c.2782A>T (p.Lys928Ter) | |
| 1 | g.169541897T>C | CA343119056 | F5 | c.3193A>G (p.Lys1065Glu) c.3208A>G (p.Lys1070Glu) c.2782A>G (p.Lys928Glu) | |
| 1 | g.169541897T>G | CA343119057 | F5 | c.3193A>C (p.Lys1065Gln) c.3208A>C (p.Lys1070Gln) c.2782A>C (p.Lys928Gln) | |
| 1 | g.169541898A>C | CA421930611 | F5 | c.3192T>G (p.Leu1064=) c.3207T>G (p.Leu1069=) c.2781T>G (p.Leu927=) | |
| 1 | g.169541898A>G | CA421930612 | F5 | c.3192T>C (p.Leu1064=) c.3207T>C (p.Leu1069=) c.2781T>C (p.Leu927=) | |
| 1 | g.169541898A>T | CA421930613 | F5 | c.3192T>A (p.Leu1064=) c.3207T>A (p.Leu1069=) c.2781T>A (p.Leu927=) | |
| 1 | g.169541899A= | CA1206132513 | F5 | c.3191T= (p.Leu1064=) c.3206T= (p.Leu1069=) c.2780T= (p.Leu927=) | |
| 1 | g.169541899A>C | CA1233954 | F5 | c.3191T>G (p.Leu1064Arg) c.3206T>G (p.Leu1069Arg) c.2780T>G (p.Leu927Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541899A>G | CA343119058 | F5 | c.3191T>C (p.Leu1064Pro) c.3206T>C (p.Leu1069Pro) c.2780T>C (p.Leu927Pro) | |
| 1 | g.169541899A>T | CA343119059 | F5 | c.3191T>A (p.Leu1064His) c.3206T>A (p.Leu1069His) c.2780T>A (p.Leu927His) | |
| 1 | g.169541900G>A | CA1233955 | F5 | c.3190C>T (p.Leu1064Phe) c.3205C>T (p.Leu1069Phe) c.2779C>T (p.Leu927Phe) | dbSNP ExAC gnomAD v2 |
| 1 | g.169541900G>C | CA343119061 | F5 | c.3190C>G (p.Leu1064Val) c.3205C>G (p.Leu1069Val) c.2779C>G (p.Leu927Val) | |
| 1 | g.169541900G= | CA1206132515 | F5 | c.3190C= (p.Leu1064=) c.3205C= (p.Leu1069=) c.2779C= (p.Leu927=) | |
| 1 | g.169541900G>T | CA343119063 | F5 | c.3190C>A (p.Leu1064Ile) c.3205C>A (p.Leu1069Ile) c.2779C>A (p.Leu927Ile) | |
| 1 | g.169541901T>A | CA343119065 | F5 | c.3189A>T (p.Arg1063Ser) c.3204A>T (p.Arg1068Ser) c.2778A>T (p.Arg926Ser) | |
| 1 | g.169541901T>C | CA421930615 | F5 | c.3189A>G (p.Arg1063=) c.3204A>G (p.Arg1068=) c.2778A>G (p.Arg926=) | |
| 1 | g.169541901T>G | CA343119066 | F5 | c.3189A>C (p.Arg1063Ser) c.3204A>C (p.Arg1068Ser) c.2778A>C (p.Arg926Ser) | |
| 1 | g.169541905_169541907del | CA2649035426 | F5 | c.3187_3189del (p.Arg1063del) c.3202_3204del (p.Arg1068del) c.2776_2778del (p.Arg926del) | gnomAD v4 |
| 1 | g.169541902C>A | CA343119072 | F5 | c.3188G>T (p.Arg1063Ile) c.3203G>T (p.Arg1068Ile) c.2777G>T (p.Arg926Ile) | |
| 1 | g.169541902C= | CA1206132517 | F5 | c.3188G= (p.Arg1063=) c.3203G= (p.Arg1068=) c.2777G= (p.Arg926=) | |
| 1 | g.169541902C>G | CA343119069 | F5 | c.3188G>C (p.Arg1063Thr) c.3203G>C (p.Arg1068Thr) c.2777G>C (p.Arg926Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541902C>T | CA343119070 | F5 | c.3188G>A (p.Arg1063Lys) c.3203G>A (p.Arg1068Lys) c.2777G>A (p.Arg926Lys) | |
| 1 | g.169541903T>A | CA343119074 | F5 | c.3187A>T (p.Arg1063Ter) c.3202A>T (p.Arg1068Ter) c.2776A>T (p.Arg926Ter) | |
| 1 | g.169541903T>C | CA1233956 | F5 | c.3187A>G (p.Arg1063Gly) c.3202A>G (p.Arg1068Gly) c.2776A>G (p.Arg926Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541903T>G | CA421930619 | F5 | c.3187A>C (p.Arg1063=) c.3202A>C (p.Arg1068=) c.2776A>C (p.Arg926=) | |
| 1 | g.169541903T= | CA1206132518 | F5 | c.3187A= (p.Arg1063=) c.3202A= (p.Arg1068=) c.2776A= (p.Arg926=) | |
| 1 | g.169541903_169541904delinsTT | CA1144229042 | F5 | c.3186_3187delinsAA (p.Arg1062=) c.3201_3202delinsAA (p.Arg1067=) c.2775_2776delinsAA (p.Arg925=) | |
| 1 | g.169541904dup | CA215969 | F5 | c.3187dup (p.Arg1063LysfsTer3) c.3202dup (p.Arg1068LysfsTer3) c.2776dup (p.Arg926LysfsTer3) | ClinVar dbSNP |
| 1 | g.169541904T>A | CA343119076 | F5 | c.3186A>T (p.Arg1062Ser) c.3201A>T (p.Arg1067Ser) c.2775A>T (p.Arg925Ser) | |
| 1 | g.169541904T>C | CA421930620 | F5 | c.3186A>G (p.Arg1062=) c.3201A>G (p.Arg1067=) c.2775A>G (p.Arg925=) | |
| 1 | g.169541904T>G | CA343119079 | F5 | c.3186A>C (p.Arg1062Ser) c.3201A>C (p.Arg1067Ser) c.2775A>C (p.Arg925Ser) | |
| 1 | g.169541905C>A | CA343119081 | F5 | c.3185G>T (p.Arg1062Ile) c.3200G>T (p.Arg1067Ile) c.2774G>T (p.Arg925Ile) | |
| 1 | g.169541905C>G | CA343119083 | F5 | c.3185G>C (p.Arg1062Thr) c.3200G>C (p.Arg1067Thr) c.2774G>C (p.Arg925Thr) | |
| 1 | g.169541905C>T | CA343119085 | F5 | c.3185G>A (p.Arg1062Lys) c.3200G>A (p.Arg1067Lys) c.2774G>A (p.Arg925Lys) | |
| 1 | g.169541906T>A | CA343119087 | F5 | c.3184A>T (p.Arg1062Ter) c.3199A>T (p.Arg1067Ter) c.2773A>T (p.Arg925Ter) | |
| 1 | g.169541906T>C | CA343119088 | F5 | c.3184A>G (p.Arg1062Gly) c.3199A>G (p.Arg1067Gly) c.2773A>G (p.Arg925Gly) | |
| 1 | g.169541906T>G | CA421930625 | F5 | c.3184A>C (p.Arg1062=) c.3199A>C (p.Arg1067=) c.2773A>C (p.Arg925=) | |
| 1 | g.169541907T>A | CA343119091 | F5 | c.3183A>T (p.Glu1061Asp) c.3198A>T (p.Glu1066Asp) c.2772A>T (p.Glu924Asp) | |
| 1 | g.169541907T>C | CA421930626 | F5 | c.3183A>G (p.Glu1061=) c.3198A>G (p.Glu1066=) c.2772A>G (p.Glu924=) | |
| 1 | g.169541907T>G | CA343119092 | F5 | c.3183A>C (p.Glu1061Asp) c.3198A>C (p.Glu1066Asp) c.2772A>C (p.Glu924Asp) | COSMIC |
| 1 | g.169541908T>A | CA343119095 | F5 | c.3182A>T (p.Glu1061Val) c.3197A>T (p.Glu1066Val) c.2771A>T (p.Glu924Val) | |
| 1 | g.169541908T>C | CA343119097 | F5 | c.3182A>G (p.Glu1061Gly) c.3197A>G (p.Glu1066Gly) c.2771A>G (p.Glu924Gly) | |
| 1 | g.169541908T>G | CA343119094 | F5 | c.3182A>C (p.Glu1061Ala) c.3197A>C (p.Glu1066Ala) c.2771A>C (p.Glu924Ala) | |
| 1 | g.169541909C>A | CA343119099 | F5 | c.3181G>T (p.Glu1061Ter) c.3196G>T (p.Glu1066Ter) c.2770G>T (p.Glu924Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541909C= | CA1206132520 | F5 | c.3181G= (p.Glu1061=) c.3196G= (p.Glu1066=) c.2770G= (p.Glu924=) | |
| 1 | g.169541909C>G | CA343119101 | F5 | c.3181G>C (p.Glu1061Gln) c.3196G>C (p.Glu1066Gln) c.2770G>C (p.Glu924Gln) | COSMIC |
| 1 | g.169541909C>T | CA343119102 | F5 | c.3181G>A (p.Glu1061Lys) c.3196G>A (p.Glu1066Lys) c.2770G>A (p.Glu924Lys) | |
| 1 | g.169541910T>A | CA421930629 | F5 | c.3180A>T (p.Ser1060=) c.3195A>T (p.Ser1065=) c.2769A>T (p.Ser923=) | |
| 1 | g.169541910T>C | CA421930630 | F5 | c.3180A>G (p.Ser1060=) c.3195A>G (p.Ser1065=) c.2769A>G (p.Ser923=) | dbSNP gnomAD v4 |
| 1 | g.169541910T>G | CA421930631 | F5 | c.3180A>C (p.Ser1060=) c.3195A>C (p.Ser1065=) c.2769A>C (p.Ser923=) | |
| 1 | g.169541910T= | CA1206132521 | F5 | c.3180A= (p.Ser1060=) c.3195A= (p.Ser1065=) c.2769A= (p.Ser923=) | |
| 1 | g.169541911G>A | CA343119103 | F5 | c.3179C>T (p.Ser1060Leu) c.3194C>T (p.Ser1065Leu) c.2768C>T (p.Ser923Leu) | |
| 1 | g.169541911G>C | CA343119105 | F5 | c.3179C>G (p.Ser1060Ter) c.3194C>G (p.Ser1065Ter) c.2768C>G (p.Ser923Ter) | |
| 1 | g.169541911G>T | CA343119107 | F5 | c.3179C>A (p.Ser1060Ter) c.3194C>A (p.Ser1065Ter) c.2768C>A (p.Ser923Ter) | |
| 1 | g.169541912A= | CA1206132523 | F5 | c.3178T= (p.Ser1060=) c.3193T= (p.Ser1065=) c.2767T= (p.Ser923=) | |
| 1 | g.169541912A>C | CA343119110 | F5 | c.3178T>G (p.Ser1060Ala) c.3193T>G (p.Ser1065Ala) c.2767T>G (p.Ser923Ala) | |
| 1 | g.169541912A>G | CA1233957 | F5 | c.3178T>C (p.Ser1060Pro) c.3193T>C (p.Ser1065Pro) c.2767T>C (p.Ser923Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541912A>T | CA343119109 | F5 | c.3178T>A (p.Ser1060Thr) c.3193T>A (p.Ser1065Thr) c.2767T>A (p.Ser923Thr) | |
| 1 | g.169541912_169541913insCCATAATCAGAATTCCTC | CA2517932995 | F5 | c.3177_3178insGAGGAATTCTGATTATGG c.3192_3193insGAGGAATTCTGATTATGG c.2766_2767insGAGGAATTCTGATTATGG | |
| 1 | g.169541913A>C | CA343119111 | F5 | c.3177T>G (p.Phe1059Leu) c.3192T>G (p.Phe1064Leu) c.2766T>G (p.Phe922Leu) | |
| 1 | g.169541913A>G | CA421930635 | F5 | c.3177T>C (p.Phe1059=) c.3192T>C (p.Phe1064=) c.2766T>C (p.Phe922=) | |
| 1 | g.169541913A>T | CA343119112 | F5 | c.3177T>A (p.Phe1059Leu) c.3192T>A (p.Phe1064Leu) c.2766T>A (p.Phe922Leu) | |
| 1 | g.169541914A>C | CA343119113 | F5 | c.3176T>G (p.Phe1059Cys) c.3191T>G (p.Phe1064Cys) c.2765T>G (p.Phe922Cys) | |
| 1 | g.169541914A>G | CA343119114 | F5 | c.3176T>C (p.Phe1059Ser) c.3191T>C (p.Phe1064Ser) c.2765T>C (p.Phe922Ser) | |
| 1 | g.169541914A>T | CA343119115 | F5 | c.3176T>A (p.Phe1059Tyr) c.3191T>A (p.Phe1064Tyr) c.2765T>A (p.Phe922Tyr) | |
| 1 | g.169541915A>C | CA343119116 | F5 | c.3175T>G (p.Phe1059Val) c.3190T>G (p.Phe1064Val) c.2764T>G (p.Phe922Val) | |
| 1 | g.169541915A>G | CA343119118 | F5 | c.3175T>C (p.Phe1059Leu) c.3190T>C (p.Phe1064Leu) c.2764T>C (p.Phe922Leu) | |
| 1 | g.169541915A>T | CA343119117 | F5 | c.3175T>A (p.Phe1059Ile) c.3190T>A (p.Phe1064Ile) c.2764T>A (p.Phe922Ile) | |
| 1 | g.169541915_169541920delinsATGTGT | CA1206132524 | F5 | c.3170_3175delinsACACAT (p.Asn1057=) c.3185_3190delinsACACAT (p.Asn1062=) c.2759_2764delinsACACAT (p.Asn920=) | |
| 1 | g.169541916T>A | CA421930638 | F5 | c.3174A>T (p.Thr1058=) c.3189A>T (p.Thr1063=) c.2763A>T (p.Thr921=) | dbSNP |
| 1 | g.169541916T>C | CA1233958 | F5 | c.3174A>G (p.Thr1058=) c.3189A>G (p.Thr1063=) c.2763A>G (p.Thr921=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541916T>G | CA421930639 | F5 | c.3174A>C (p.Thr1058=) c.3189A>C (p.Thr1063=) c.2763A>C (p.Thr921=) | |
| 1 | g.169541916T= | CA1148296537 | F5 | c.3174A= (p.Thr1058=) c.3189A= (p.Thr1063=) c.2763A= (p.Thr921=) | |
| 1 | g.169541919_169541923del | CA915943655 | F5 | c.3170_3174del (p.Asn1057IlefsTer7) c.3185_3189del (p.Asn1062IlefsTer7) c.2759_2763del (p.Asn920IlefsTer7) | ClinVar dbSNP |
| 1 | g.169541917G>A | CA1233959 | F5 | c.3173C>T (p.Thr1058Ile) c.3188C>T (p.Thr1063Ile) c.2762C>T (p.Thr921Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541917G>C | CA343119119 | F5 | c.3173C>G (p.Thr1058Arg) c.3188C>G (p.Thr1063Arg) c.2762C>G (p.Thr921Arg) | |
| 1 | g.169541917G= | CA1206132528 | F5 | c.3173C= (p.Thr1058=) c.3188C= (p.Thr1063=) c.2762C= (p.Thr921=) | |
| 1 | g.169541917G>T | CA343119120 | F5 | c.3173C>A (p.Thr1058Lys) c.3188C>A (p.Thr1063Lys) c.2762C>A (p.Thr921Lys) | dbSNP gnomAD v4 |
| 1 | g.169541918T>A | CA343119121 | F5 | c.3172A>T (p.Thr1058Ser) c.3187A>T (p.Thr1063Ser) c.2761A>T (p.Thr921Ser) | gnomAD v4 |
| 1 | g.169541918T>C | CA343119122 | F5 | c.3172A>G (p.Thr1058Ala) c.3187A>G (p.Thr1063Ala) c.2761A>G (p.Thr921Ala) | |
| 1 | g.169541918T>G | CA343119123 | F5 | c.3172A>C (p.Thr1058Pro) c.3187A>C (p.Thr1063Pro) c.2761A>C (p.Thr921Pro) | |
| 1 | g.169541919G>A | CA421930641 | F5 | c.3171C>T (p.Asn1057=) c.3186C>T (p.Asn1062=) c.2760C>T (p.Asn920=) | |
| 1 | g.169541919G>C | CA343119124 | F5 | c.3171C>G (p.Asn1057Lys) c.3186C>G (p.Asn1062Lys) c.2760C>G (p.Asn920Lys) | |
| 1 | g.169541919G>T | CA343119125 | F5 | c.3171C>A (p.Asn1057Lys) c.3186C>A (p.Asn1062Lys) c.2760C>A (p.Asn920Lys) | COSMIC |
| 1 | g.169541920T>A | CA343119126 | F5 | c.3170A>T (p.Asn1057Ile) c.3185A>T (p.Asn1062Ile) c.2759A>T (p.Asn920Ile) | |
| 1 | g.169541920T>C | CA343119127 | F5 | c.3170A>G (p.Asn1057Ser) c.3185A>G (p.Asn1062Ser) c.2759A>G (p.Asn920Ser) | |
| 1 | g.169541920T>G | CA343119128 | F5 | c.3170A>C (p.Asn1057Thr) c.3185A>C (p.Asn1062Thr) c.2759A>C (p.Asn920Thr) | |
| 1 | g.169541921T>A | CA343119130 | F5 | c.3169A>T (p.Asn1057Tyr) c.3184A>T (p.Asn1062Tyr) c.2758A>T (p.Asn920Tyr) | |
| 1 | g.169541921T>C | CA343119131 | F5 | c.3169A>G (p.Asn1057Asp) c.3184A>G (p.Asn1062Asp) c.2758A>G (p.Asn920Asp) | |
| 1 | g.169541921T>G | CA343119129 | F5 | c.3169A>C (p.Asn1057His) c.3184A>C (p.Asn1062His) c.2758A>C (p.Asn920His) | |
| 1 | g.169541922G>A | CA421930644 | F5 | c.3168C>T (p.Tyr1056=) c.3183C>T (p.Tyr1061=) c.2757C>T (p.Tyr919=) | ClinVar |
| 1 | g.169541922G>C | CA343119133 | F5 | c.3168C>G (p.Tyr1056Ter) c.3183C>G (p.Tyr1061Ter) c.2757C>G (p.Tyr919Ter) | |
| 1 | g.169541922G= | CA1206132529 | F5 | c.3168C= (p.Tyr1056=) c.3183C= (p.Tyr1061=) c.2757C= (p.Tyr919=) | |
| 1 | g.169541922G>T | CA343119132 | F5 | c.3168C>A (p.Tyr1056Ter) c.3183C>A (p.Tyr1061Ter) c.2757C>A (p.Tyr919Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541923T>A | CA343119134 | F5 | c.3167A>T (p.Tyr1056Phe) c.3182A>T (p.Tyr1061Phe) c.2756A>T (p.Tyr919Phe) | |
| 1 | g.169541923T>C | CA1233960 | F5 | c.3167A>G (p.Tyr1056Cys) c.3182A>G (p.Tyr1061Cys) c.2756A>G (p.Tyr919Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541923T>G | CA343119135 | F5 | c.3167A>C (p.Tyr1056Ser) c.3182A>C (p.Tyr1061Ser) c.2756A>C (p.Tyr919Ser) | |
| 1 | g.169541923T= | CA1206132531 | F5 | c.3167A= (p.Tyr1056=) c.3182A= (p.Tyr1061=) c.2756A= (p.Tyr919=) | |
| 1 | g.169541924A>C | CA343119136 | F5 | c.3166T>G (p.Tyr1056Asp) c.3181T>G (p.Tyr1061Asp) c.2755T>G (p.Tyr919Asp) | |
| 1 | g.169541924A>G | CA343119137 | F5 | c.3166T>C (p.Tyr1056His) c.3181T>C (p.Tyr1061His) c.2755T>C (p.Tyr919His) | |
| 1 | g.169541924A>T | CA343119138 | F5 | c.3166T>A (p.Tyr1056Asn) c.3181T>A (p.Tyr1061Asn) c.2755T>A (p.Tyr919Asn) | |
| 1 | g.169541925G>A | CA421930650 | F5 | c.3165C>T (p.Ala1055=) c.3180C>T (p.Ala1060=) c.2754C>T (p.Ala918=) | |
| 1 | g.169541925G>C | CA421930649 | F5 | c.3165C>G (p.Ala1055=) c.3180C>G (p.Ala1060=) c.2754C>G (p.Ala918=) | |
| 1 | g.169541925G= | CA1206132533 | F5 | c.3165C= (p.Ala1055=) c.3180C= (p.Ala1060=) c.2754C= (p.Ala918=) | |
| 1 | g.169541925G>T | CA421930648 | F5 | c.3165C>A (p.Ala1055=) c.3180C>A (p.Ala1060=) c.2754C>A (p.Ala918=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.169541926G>A | CA343119139 | F5 | c.3164C>T (p.Ala1055Val) c.3179C>T (p.Ala1060Val) c.2753C>T (p.Ala918Val) | |
| 1 | g.169541926G>C | CA343119140 | F5 | c.3164C>G (p.Ala1055Gly) c.3179C>G (p.Ala1060Gly) c.2753C>G (p.Ala918Gly) | |
| 1 | g.169541926G>T | CA343119141 | F5 | c.3164C>A (p.Ala1055Asp) c.3179C>A (p.Ala1060Asp) c.2753C>A (p.Ala918Asp) | |
| 1 | g.169541927C>A | CA343119142 | F5 | c.3163G>T (p.Ala1055Ser) c.3178G>T (p.Ala1060Ser) c.2752G>T (p.Ala918Ser) | |
| 1 | g.169541927C>G | CA343119143 | F5 | c.3163G>C (p.Ala1055Pro) c.3178G>C (p.Ala1060Pro) c.2752G>C (p.Ala918Pro) | |
| 1 | g.169541927C>T | CA343119144 | F5 | c.3163G>A (p.Ala1055Thr) c.3178G>A (p.Ala1060Thr) c.2752G>A (p.Ala918Thr) |