Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.38481666C>A | CA359533211 | LIFR | c.3223G>T (p.Glu1075Ter) c.3190G>T (p.Glu1064Ter) c.3277G>T (p.Glu1093Ter) | |
5 | g.38481666C= | CA1540248876 | LIFR | c.3223G= (p.Glu1075=) c.3190G= (p.Glu1064=) c.3277G= (p.Glu1093=) | |
5 | g.38481666C>G | CA359533212 | LIFR | c.3223G>C (p.Glu1075Gln) c.3190G>C (p.Glu1064Gln) c.3277G>C (p.Glu1093Gln) | |
5 | g.38481666C>T | CA117133941 | LIFR | c.3223G>A (p.Glu1075Lys) c.3190G>A (p.Glu1064Lys) c.3277G>A (p.Glu1093Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481667A>C | CA359533213 | LIFR | c.3222T>G (p.Asp1074Glu) c.3189T>G (p.Asp1063Glu) c.3276T>G (p.Asp1092Glu) | gnomAD v4 |
5 | g.38481667A>G | CA444098868 | LIFR | c.3222T>C (p.Asp1074=) c.3189T>C (p.Asp1063=) c.3276T>C (p.Asp1092=) | ClinVar gnomAD v4 |
5 | g.38481667A>T | CA359533214 | LIFR | c.3222T>A (p.Asp1074Glu) c.3189T>A (p.Asp1063Glu) c.3276T>A (p.Asp1092Glu) | |
5 | g.38481668T>A | CA359533215 | LIFR | c.3221A>T (p.Asp1074Val) c.3188A>T (p.Asp1063Val) c.3275A>T (p.Asp1092Val) | gnomAD v4 |
5 | g.38481668T>C | CA3242485 | LIFR | c.3221A>G (p.Asp1074Gly) c.3188A>G (p.Asp1063Gly) c.3275A>G (p.Asp1092Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481668T>G | CA359533216 | LIFR | c.3221A>C (p.Asp1074Ala) c.3188A>C (p.Asp1063Ala) c.3275A>C (p.Asp1092Ala) | |
5 | g.38481668T= | CA1540248882 | LIFR | c.3221A= (p.Asp1074=) c.3188A= (p.Asp1063=) c.3275A= (p.Asp1092=) | |
5 | g.38481669C>A | CA359533217 | LIFR | c.3220G>T (p.Asp1074Tyr) c.3187G>T (p.Asp1063Tyr) c.3274G>T (p.Asp1092Tyr) | |
5 | g.38481669C>G | CA359533218 | LIFR | c.3220G>C (p.Asp1074His) c.3187G>C (p.Asp1063His) c.3274G>C (p.Asp1092His) | |
5 | g.38481669C>T | CA359533219 | LIFR | c.3220G>A (p.Asp1074Asn) c.3187G>A (p.Asp1063Asn) c.3274G>A (p.Asp1092Asn) | |
5 | g.38481670T>A | CA359533220 | LIFR | c.3219A>T (p.Lys1073Asn) c.3186A>T (p.Lys1062Asn) c.3273A>T (p.Lys1091Asn) | |
5 | g.38481670T>C | CA444098880 | LIFR | c.3219A>G (p.Lys1073=) c.3186A>G (p.Lys1062=) c.3273A>G (p.Lys1091=) | |
5 | g.38481670T>G | CA359533221 | LIFR | c.3219A>C (p.Lys1073Asn) c.3186A>C (p.Lys1062Asn) c.3273A>C (p.Lys1091Asn) | |
5 | g.38481671T>A | CA359533222 | LIFR | c.3218A>T (p.Lys1073Ile) c.3185A>T (p.Lys1062Ile) c.3272A>T (p.Lys1091Ile) | |
5 | g.38481671T>C | CA359533223 | LIFR | c.3218A>G (p.Lys1073Arg) c.3185A>G (p.Lys1062Arg) c.3272A>G (p.Lys1091Arg) | |
5 | g.38481671T>G | CA359533224 | LIFR | c.3218A>C (p.Lys1073Thr) c.3185A>C (p.Lys1062Thr) c.3272A>C (p.Lys1091Thr) | |
5 | g.38481672T>A | CA359533226 | LIFR | c.3217A>T (p.Lys1073Ter) c.3184A>T (p.Lys1062Ter) c.3271A>T (p.Lys1091Ter) | |
5 | g.38481672T>C | CA3242486 | LIFR | c.3217A>G (p.Lys1073Glu) c.3184A>G (p.Lys1062Glu) c.3271A>G (p.Lys1091Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481672T>G | CA359533225 | LIFR | c.3217A>C (p.Lys1073Gln) c.3184A>C (p.Lys1062Gln) c.3271A>C (p.Lys1091Gln) | |
5 | g.38481672T= | CA1540248892 | LIFR | c.3217A= (p.Lys1073=) c.3184A= (p.Lys1062=) c.3271A= (p.Lys1091=) | |
5 | g.38481672_38481674delinsTAG | CA1540248894 | LIFR | c.3215_3217delinsCTA (p.Pro1072=) c.3182_3184delinsCTA (p.Pro1061=) c.3269_3271delinsCTA (p.Pro1090=) | |
5 | g.38481673A>C | CA444098893 | LIFR | c.3216T>G (p.Pro1072=) c.3183T>G (p.Pro1061=) c.3270T>G (p.Pro1090=) | |
5 | g.38481673A>G | CA444098895 | LIFR | c.3216T>C (p.Pro1072=) c.3183T>C (p.Pro1061=) c.3270T>C (p.Pro1090=) | |
5 | g.38481673A>T | CA444098897 | LIFR | c.3216T>A (p.Pro1072=) c.3183T>A (p.Pro1061=) c.3270T>A (p.Pro1090=) | |
5 | g.38481673_38481674del | CA810423271 | LIFR | c.3215_3216del (p.Pro1072GlnfsTer3) c.3182_3183del (p.Pro1061GlnfsTer3) c.3269_3270del (p.Pro1090GlnfsTer3) | dbSNP |
5 | g.38481674G>A | CA359533227 | LIFR | c.3215C>T (p.Pro1072Leu) c.3182C>T (p.Pro1061Leu) c.3269C>T (p.Pro1090Leu) | gnomAD v4 |
5 | g.38481674G>C | CA359533228 | LIFR | c.3215C>G (p.Pro1072Arg) c.3182C>G (p.Pro1061Arg) c.3269C>G (p.Pro1090Arg) | |
5 | g.38481674G>T | CA359533229 | LIFR | c.3215C>A (p.Pro1072His) c.3182C>A (p.Pro1061His) c.3269C>A (p.Pro1090His) | |
5 | g.38481675G>A | CA359533230 | LIFR | c.3214C>T (p.Pro1072Ser) c.3181C>T (p.Pro1061Ser) c.3268C>T (p.Pro1090Ser) | |
5 | g.38481675G>C | CA359533231 | LIFR | c.3214C>G (p.Pro1072Ala) c.3181C>G (p.Pro1061Ala) c.3268C>G (p.Pro1090Ala) | gnomAD v4 |
5 | g.38481675G>T | CA359533232 | LIFR | c.3214C>A (p.Pro1072Thr) c.3181C>A (p.Pro1061Thr) c.3268C>A (p.Pro1090Thr) | |
5 | g.38481676A= | CA1540248899 | LIFR | c.3213T= (p.Pro1071=) c.3180T= (p.Pro1060=) c.3267T= (p.Pro1089=) | |
5 | g.38481676A>C | CA444098901 | LIFR | c.3213T>G (p.Pro1071=) c.3180T>G (p.Pro1060=) c.3267T>G (p.Pro1089=) | |
5 | g.38481676A>G | CA444098902 | LIFR | c.3213T>C (p.Pro1071=) c.3180T>C (p.Pro1060=) c.3267T>C (p.Pro1089=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481676A>T | CA444098906 | LIFR | c.3213T>A (p.Pro1071=) c.3180T>A (p.Pro1060=) c.3267T>A (p.Pro1089=) | |
5 | g.38481677G>A | CA359533233 | LIFR | c.3212C>T (p.Pro1071Leu) c.3179C>T (p.Pro1060Leu) c.3266C>T (p.Pro1089Leu) | |
5 | g.38481677G>C | CA359533234 | LIFR | c.3212C>G (p.Pro1071Arg) c.3179C>G (p.Pro1060Arg) c.3266C>G (p.Pro1089Arg) | |
5 | g.38481677G>T | CA359533235 | LIFR | c.3212C>A (p.Pro1071His) c.3179C>A (p.Pro1060His) c.3266C>A (p.Pro1089His) | |
5 | g.38481678G>A | CA359533236 | LIFR | c.3211C>T (p.Pro1071Ser) c.3178C>T (p.Pro1060Ser) c.3265C>T (p.Pro1089Ser) | dbSNP |
5 | g.38481678G>C | CA359533237 | LIFR | c.3211C>G (p.Pro1071Ala) c.3178C>G (p.Pro1060Ala) c.3265C>G (p.Pro1089Ala) | |
5 | g.38481678G= | CA1540248902 | LIFR | c.3211C= (p.Pro1071=) c.3178C= (p.Pro1060=) c.3265C= (p.Pro1089=) | |
5 | g.38481678G>T | CA359533238 | LIFR | c.3211C>A (p.Pro1071Thr) c.3178C>A (p.Pro1060Thr) c.3265C>A (p.Pro1089Thr) | |
5 | g.38481679A= | CA1540248904 | LIFR | c.3210T= (p.Ile1070=) c.3177T= (p.Ile1059=) c.3264T= (p.Ile1088=) | |
5 | g.38481679A>C | CA359533239 | LIFR | c.3210T>G (p.Ile1070Met) c.3177T>G (p.Ile1059Met) c.3264T>G (p.Ile1088Met) | |
5 | g.38481679A>G | CA444098915 | LIFR | c.3210T>C (p.Ile1070=) c.3177T>C (p.Ile1059=) c.3264T>C (p.Ile1088=) | |
5 | g.38481679A>T | CA444098916 | LIFR | c.3210T>A (p.Ile1070=) c.3177T>A (p.Ile1059=) c.3264T>A (p.Ile1088=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481680A>C | CA359533241 | LIFR | c.3209T>G (p.Ile1070Ser) c.3176T>G (p.Ile1059Ser) c.3263T>G (p.Ile1088Ser) | |
5 | g.38481680A>G | CA359533240 | LIFR | c.3209T>C (p.Ile1070Thr) c.3176T>C (p.Ile1059Thr) c.3263T>C (p.Ile1088Thr) | |
5 | g.38481680A>T | CA359533242 | LIFR | c.3209T>A (p.Ile1070Asn) c.3176T>A (p.Ile1059Asn) c.3263T>A (p.Ile1088Asn) | |
5 | g.38481681_38481683dup | CA1540248907 | LIFR | c.3207_3209dup (p.Leu1069_Ile1070insMet) c.3174_3176dup (p.Leu1058_Ile1059insMet) c.3261_3263dup (p.Leu1087_Ile1088insMet) | dbSNP gnomAD v4 |
5 | g.38481681T>A | CA359533243 | LIFR | c.3208A>T (p.Ile1070Phe) c.3175A>T (p.Ile1059Phe) c.3262A>T (p.Ile1088Phe) | |
5 | g.38481681T>C | CA359533245 | LIFR | c.3208A>G (p.Ile1070Val) c.3175A>G (p.Ile1059Val) c.3262A>G (p.Ile1088Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481681T>G | CA359533244 | LIFR | c.3208A>C (p.Ile1070Leu) c.3175A>C (p.Ile1059Leu) c.3262A>C (p.Ile1088Leu) | |
5 | g.38481681T= | CA1540248910 | LIFR | c.3208A= (p.Ile1070=) c.3175A= (p.Ile1059=) c.3262A= (p.Ile1088=) | |
5 | g.38481682C>A | CA359533246 | LIFR | c.3207G>T (p.Leu1069Phe) c.3174G>T (p.Leu1058Phe) c.3261G>T (p.Leu1087Phe) | dbSNP gnomAD v4 |
5 | g.38481682C>G | CA359533247 | LIFR | c.3207G>C (p.Leu1069Phe) c.3174G>C (p.Leu1058Phe) c.3261G>C (p.Leu1087Phe) | |
5 | g.38481682C>T | CA444098930 | LIFR | c.3207G>A (p.Leu1069=) c.3174G>A (p.Leu1058=) c.3261G>A (p.Leu1087=) | |
5 | g.38481683A>C | CA359533248 | LIFR | c.3206T>G (p.Leu1069Trp) c.3173T>G (p.Leu1058Trp) c.3260T>G (p.Leu1087Trp) | |
5 | g.38481683A>G | CA359533249 | LIFR | c.3206T>C (p.Leu1069Ser) c.3173T>C (p.Leu1058Ser) c.3260T>C (p.Leu1087Ser) | |
5 | g.38481683A>T | CA359533250 | LIFR | c.3206T>A (p.Leu1069Ter) c.3173T>A (p.Leu1058Ter) c.3260T>A (p.Leu1087Ter) | |
5 | g.38481684A= | CA1540248914 | LIFR | c.3205T= (p.Leu1069=) c.3172T= (p.Leu1058=) c.3259T= (p.Leu1087=) | |
5 | g.38481684A>C | CA359533251 | LIFR | c.3205T>G (p.Leu1069Val) c.3172T>G (p.Leu1058Val) c.3259T>G (p.Leu1087Val) | gnomAD v4 |
5 | g.38481684A>G | CA444098933 | LIFR | c.3205T>C (p.Leu1069=) c.3172T>C (p.Leu1058=) c.3259T>C (p.Leu1087=) | |
5 | g.38481684A>T | CA359533252 | LIFR | c.3205T>A (p.Leu1069Met) c.3172T>A (p.Leu1058Met) c.3259T>A (p.Leu1087Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481685A>C | CA359533253 | LIFR | c.3204T>G (p.Phe1068Leu) c.3171T>G (p.Phe1057Leu) c.3258T>G (p.Phe1086Leu) | COSMIC |
5 | g.38481685A>G | CA444098936 | LIFR | c.3204T>C (p.Phe1068=) c.3171T>C (p.Phe1057=) c.3258T>C (p.Phe1086=) | |
5 | g.38481685A>T | CA359533254 | LIFR | c.3204T>A (p.Phe1068Leu) c.3171T>A (p.Phe1057Leu) c.3258T>A (p.Phe1086Leu) | |
5 | g.38481686A>C | CA359533255 | LIFR | c.3203T>G (p.Phe1068Cys) c.3170T>G (p.Phe1057Cys) c.3257T>G (p.Phe1086Cys) | |
5 | g.38481686A>G | CA359533256 | LIFR | c.3203T>C (p.Phe1068Ser) c.3170T>C (p.Phe1057Ser) c.3257T>C (p.Phe1086Ser) | |
5 | g.38481686A>T | CA359533257 | LIFR | c.3203T>A (p.Phe1068Tyr) c.3170T>A (p.Phe1057Tyr) c.3257T>A (p.Phe1086Tyr) | |
5 | g.38481687A= | CA1540248917 | LIFR | c.3202T= (p.Phe1068=) c.3169T= (p.Phe1057=) c.3256T= (p.Phe1086=) | |
5 | g.38481687A>C | CA359533260 | LIFR | c.3202T>G (p.Phe1068Val) c.3169T>G (p.Phe1057Val) c.3256T>G (p.Phe1086Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481687A>G | CA359533258 | LIFR | c.3202T>C (p.Phe1068Leu) c.3169T>C (p.Phe1057Leu) c.3256T>C (p.Phe1086Leu) | gnomAD v4 |
5 | g.38481687A>T | CA359533259 | LIFR | c.3202T>A (p.Phe1068Ile) c.3169T>A (p.Phe1057Ile) c.3256T>A (p.Phe1086Ile) | |
5 | g.38481688T>A | CA359533261 | LIFR | c.3201A>T (p.Gln1067His) c.3168A>T (p.Gln1056His) c.3255A>T (p.Gln1085His) | |
5 | g.38481688T>C | CA444098952 | LIFR | c.3201A>G (p.Gln1067=) c.3168A>G (p.Gln1056=) c.3255A>G (p.Gln1085=) | |
5 | g.38481688T>G | CA359533262 | LIFR | c.3201A>C (p.Gln1067His) c.3168A>C (p.Gln1056His) c.3255A>C (p.Gln1085His) | |
5 | g.38481689T>A | CA359533263 | LIFR | c.3200A>T (p.Gln1067Leu) c.3167A>T (p.Gln1056Leu) c.3254A>T (p.Gln1085Leu) | |
5 | g.38481689T>C | CA359533264 | LIFR | c.3200A>G (p.Gln1067Arg) c.3167A>G (p.Gln1056Arg) c.3254A>G (p.Gln1085Arg) | |
5 | g.38481689T>G | CA359533265 | LIFR | c.3200A>C (p.Gln1067Pro) c.3167A>C (p.Gln1056Pro) c.3254A>C (p.Gln1085Pro) | |
5 | g.38481690G>A | CA359533266 | LIFR | c.3199C>T (p.Gln1067Ter) c.3166C>T (p.Gln1056Ter) c.3253C>T (p.Gln1085Ter) | dbSNP |
5 | g.38481690G>C | CA359533267 | LIFR | c.3199C>G (p.Gln1067Glu) c.3166C>G (p.Gln1056Glu) c.3253C>G (p.Gln1085Glu) | |
5 | g.38481690G= | CA1540248919 | LIFR | c.3199C= (p.Gln1067=) c.3166C= (p.Gln1056=) c.3253C= (p.Gln1085=) | |
5 | g.38481690G>T | CA359533268 | LIFR | c.3199C>A (p.Gln1067Lys) c.3166C>A (p.Gln1056Lys) c.3253C>A (p.Gln1085Lys) | COSMIC COSMIC |
5 | g.38481691T>A | CA444098962 | LIFR | c.3198A>T (p.Arg1066=) c.3165A>T (p.Arg1055=) c.3252A>T (p.Arg1084=) | |
5 | g.38481691T>C | CA444098964 | LIFR | c.3198A>G (p.Arg1066=) c.3165A>G (p.Arg1055=) c.3252A>G (p.Arg1084=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481691T>G | CA444098963 | LIFR | c.3198A>C (p.Arg1066=) c.3165A>C (p.Arg1055=) c.3252A>C (p.Arg1084=) | |
5 | g.38481691T= | CA1540248922 | LIFR | c.3198A= (p.Arg1066=) c.3165A= (p.Arg1055=) c.3252A= (p.Arg1084=) | |
5 | g.38481692C>A | CA359533269 | LIFR | c.3197G>T (p.Arg1066Leu) c.3164G>T (p.Arg1055Leu) c.3251G>T (p.Arg1084Leu) | |
5 | g.38481692C= | CA1540248926 | LIFR | c.3197G= (p.Arg1066=) c.3164G= (p.Arg1055=) c.3251G= (p.Arg1084=) | |
5 | g.38481692C>G | CA359533270 | LIFR | c.3197G>C (p.Arg1066Pro) c.3164G>C (p.Arg1055Pro) c.3251G>C (p.Arg1084Pro) | |
5 | g.38481692C>T | CA3242487 | LIFR | c.3197G>A (p.Arg1066Gln) c.3164G>A (p.Arg1055Gln) c.3251G>A (p.Arg1084Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.38481693G>A | CA359533271 | LIFR | c.3196C>T (p.Arg1066Ter) c.3163C>T (p.Arg1055Ter) c.3250C>T (p.Arg1084Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.38481693G>C | CA359533272 | LIFR | c.3196C>G (p.Arg1066Gly) c.3163C>G (p.Arg1055Gly) c.3250C>G (p.Arg1084Gly) | |
5 | g.38481693G= | CA1540248932 | LIFR | c.3196C= (p.Arg1066=) c.3163C= (p.Arg1055=) c.3250C= (p.Arg1084=) | |
5 | g.38481693G>T | CA444098973 | LIFR | c.3196C>A (p.Arg1066=) c.3163C>A (p.Arg1055=) c.3250C>A (p.Arg1084=) | |
5 | g.38481694G>A | CA444098983 | LIFR | c.3195C>T (p.Ser1065=) c.3162C>T (p.Ser1054=) c.3249C>T (p.Ser1083=) | |
5 | g.38481694G>C | CA444098981 | LIFR | c.3195C>G (p.Ser1065=) c.3162C>G (p.Ser1054=) c.3249C>G (p.Ser1083=) | |
5 | g.38481694G>T | CA444098979 | LIFR | c.3195C>A (p.Ser1065=) c.3162C>A (p.Ser1054=) c.3249C>A (p.Ser1083=) | |
5 | g.38481695G>A | CA359533273 | LIFR | c.3194C>T (p.Ser1065Phe) c.3161C>T (p.Ser1054Phe) c.3248C>T (p.Ser1083Phe) | COSMIC COSMIC |
5 | g.38481695G>C | CA359533274 | LIFR | c.3194C>G (p.Ser1065Cys) c.3161C>G (p.Ser1054Cys) c.3248C>G (p.Ser1083Cys) | |
5 | g.38481695G>T | CA359533275 | LIFR | c.3194C>A (p.Ser1065Tyr) c.3161C>A (p.Ser1054Tyr) c.3248C>A (p.Ser1083Tyr) | |
5 | g.38481696A>C | CA359533276 | LIFR | c.3193T>G (p.Ser1065Ala) c.3160T>G (p.Ser1054Ala) c.3247T>G (p.Ser1083Ala) | |
5 | g.38481696A>G | CA359533277 | LIFR | c.3193T>C (p.Ser1065Pro) c.3160T>C (p.Ser1054Pro) c.3247T>C (p.Ser1083Pro) | |
5 | g.38481696A>T | CA359533278 | LIFR | c.3193T>A (p.Ser1065Thr) c.3160T>A (p.Ser1054Thr) c.3247T>A (p.Ser1083Thr) | |
5 | g.38481697A>C | CA359533279 | LIFR | c.3192T>G (p.Asn1064Lys) c.3159T>G (p.Asn1053Lys) c.3246T>G (p.Asn1082Lys) | |
5 | g.38481697A>G | CA444098996 | LIFR | c.3192T>C (p.Asn1064=) c.3159T>C (p.Asn1053=) c.3246T>C (p.Asn1082=) | |
5 | g.38481697A>T | CA359533280 | LIFR | c.3192T>A (p.Asn1064Lys) c.3159T>A (p.Asn1053Lys) c.3246T>A (p.Asn1082Lys) | |
5 | g.38481698T>A | CA359533281 | LIFR | c.3191A>T (p.Asn1064Ile) c.3158A>T (p.Asn1053Ile) c.3245A>T (p.Asn1082Ile) | |
5 | g.38481698T>C | CA359533282 | LIFR | c.3191A>G (p.Asn1064Ser) c.3158A>G (p.Asn1053Ser) c.3245A>G (p.Asn1082Ser) | gnomAD v4 |
5 | g.38481698T>G | CA359533283 | LIFR | c.3191A>C (p.Asn1064Thr) c.3158A>C (p.Asn1053Thr) c.3245A>C (p.Asn1082Thr) | |
5 | g.38481699T>A | CA359533286 | LIFR | c.3190A>T (p.Asn1064Tyr) c.3157A>T (p.Asn1053Tyr) c.3244A>T (p.Asn1082Tyr) | |
5 | g.38481699T>C | CA359533285 | LIFR | c.3190A>G (p.Asn1064Asp) c.3157A>G (p.Asn1053Asp) c.3244A>G (p.Asn1082Asp) | |
5 | g.38481699T>G | CA359533284 | LIFR | c.3190A>C (p.Asn1064His) c.3157A>C (p.Asn1053His) c.3244A>C (p.Asn1082His) | |
5 | g.38481700A>C | CA359533287 | LIFR | c.3189T>G (p.Ile1063Met) c.3156T>G (p.Ile1052Met) c.3243T>G (p.Ile1081Met) | |
5 | g.38481700A>G | CA444099006 | LIFR | c.3189T>C (p.Ile1063=) c.3156T>C (p.Ile1052=) c.3243T>C (p.Ile1081=) | |
5 | g.38481700A>T | CA444099007 | LIFR | c.3189T>A (p.Ile1063=) c.3156T>A (p.Ile1052=) c.3243T>A (p.Ile1081=) | |
5 | g.38481701A>C | CA359533288 | LIFR | c.3188T>G (p.Ile1063Ser) c.3155T>G (p.Ile1052Ser) c.3242T>G (p.Ile1081Ser) | |
5 | g.38481701A>G | CA359533289 | LIFR | c.3188T>C (p.Ile1063Thr) c.3155T>C (p.Ile1052Thr) c.3242T>C (p.Ile1081Thr) | |
5 | g.38481701A>T | CA359533290 | LIFR | c.3188T>A (p.Ile1063Asn) c.3155T>A (p.Ile1052Asn) c.3242T>A (p.Ile1081Asn) | |
5 | g.38481702T>A | CA359533291 | LIFR | c.3187A>T (p.Ile1063Phe) c.3154A>T (p.Ile1052Phe) c.3241A>T (p.Ile1081Phe) | |
5 | g.38481702T>C | CA359533292 | LIFR | c.3187A>G (p.Ile1063Val) c.3154A>G (p.Ile1052Val) c.3241A>G (p.Ile1081Val) | dbSNP |
5 | g.38481702T>G | CA359533293 | LIFR | c.3187A>C (p.Ile1063Leu) c.3154A>C (p.Ile1052Leu) c.3241A>C (p.Ile1081Leu) | gnomAD v4 |
5 | g.38481702T= | CA1540248937 | LIFR | c.3187A= (p.Ile1063=) c.3154A= (p.Ile1052=) c.3241A= (p.Ile1081=) | |
5 | g.38481703G>A | CA444099012 | LIFR | c.3186C>T (p.Ser1062=) c.3153C>T (p.Ser1051=) c.3240C>T (p.Ser1080=) | |
5 | g.38481703G>C | CA444099014 | LIFR | c.3186C>G (p.Ser1062=) c.3153C>G (p.Ser1051=) c.3240C>G (p.Ser1080=) | |
5 | g.38481703G>T | CA444099020 | LIFR | c.3186C>A (p.Ser1062=) c.3153C>A (p.Ser1051=) c.3240C>A (p.Ser1080=) | |
5 | g.38481704G>A | CA359533294 | LIFR | c.3185C>T (p.Ser1062Phe) c.3152C>T (p.Ser1051Phe) c.3239C>T (p.Ser1080Phe) | COSMIC COSMIC |
5 | g.38481704G>C | CA359533295 | LIFR | c.3185C>G (p.Ser1062Cys) c.3152C>G (p.Ser1051Cys) c.3239C>G (p.Ser1080Cys) | |
5 | g.38481704G>T | CA359533296 | LIFR | c.3185C>A (p.Ser1062Tyr) c.3152C>A (p.Ser1051Tyr) c.3239C>A (p.Ser1080Tyr) | |
5 | g.38481705A>C | CA359533297 | LIFR | c.3184T>G (p.Ser1062Ala) c.3151T>G (p.Ser1051Ala) c.3238T>G (p.Ser1080Ala) | gnomAD v4 |
5 | g.38481705A>G | CA359533298 | LIFR | c.3184T>C (p.Ser1062Pro) c.3151T>C (p.Ser1051Pro) c.3238T>C (p.Ser1080Pro) | |
5 | g.38481705A>T | CA359533299 | LIFR | c.3184T>A (p.Ser1062Thr) c.3151T>A (p.Ser1051Thr) c.3238T>A (p.Ser1080Thr) | gnomAD v4 |
5 | g.38481706G>A | CA444099029 | LIFR | c.3183C>T (p.Cys1061=) c.3150C>T (p.Cys1050=) c.3237C>T (p.Cys1079=) | ClinVar |
5 | g.38481706G>C | CA359533301 | LIFR | c.3183C>G (p.Cys1061Trp) c.3150C>G (p.Cys1050Trp) c.3237C>G (p.Cys1079Trp) | |
5 | g.38481706G>T | CA359533300 | LIFR | c.3183C>A (p.Cys1061Ter) c.3150C>A (p.Cys1050Ter) c.3237C>A (p.Cys1079Ter) | |
5 | g.38481707C>A | CA359533302 | LIFR | c.3182G>T (p.Cys1061Phe) c.3149G>T (p.Cys1050Phe) c.3236G>T (p.Cys1079Phe) | |
5 | g.38481707C>G | CA359533304 | LIFR | c.3182G>C (p.Cys1061Ser) c.3149G>C (p.Cys1050Ser) c.3236G>C (p.Cys1079Ser) | |
5 | g.38481707C>T | CA359533303 | LIFR | c.3182G>A (p.Cys1061Tyr) c.3149G>A (p.Cys1050Tyr) c.3236G>A (p.Cys1079Tyr) | |
5 | g.38481708A>C | CA359533305 | LIFR | c.3181T>G (p.Cys1061Gly) c.3148T>G (p.Cys1050Gly) c.3235T>G (p.Cys1079Gly) | |
5 | g.38481708A>G | CA359533306 | LIFR | c.3181T>C (p.Cys1061Arg) c.3148T>C (p.Cys1050Arg) c.3235T>C (p.Cys1079Arg) | gnomAD v4 |
5 | g.38481708A>T | CA359533307 | LIFR | c.3181T>A (p.Cys1061Ser) c.3148T>A (p.Cys1050Ser) c.3235T>A (p.Cys1079Ser) | gnomAD v4 |
5 | g.38481709T>A | CA444099039 | LIFR | c.3180A>T (p.Pro1060=) c.3147A>T (p.Pro1049=) c.3234A>T (p.Pro1078=) | |
5 | g.38481709T>C | CA3242488 | LIFR | c.3180A>G (p.Pro1060=) c.3147A>G (p.Pro1049=) c.3234A>G (p.Pro1078=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.38481709T>G | CA444099042 | LIFR | c.3180A>C (p.Pro1060=) c.3147A>C (p.Pro1049=) c.3234A>C (p.Pro1078=) | |
5 | g.38481709T= | CA1540248941 | LIFR | c.3180A= (p.Pro1060=) c.3147A= (p.Pro1049=) c.3234A= (p.Pro1078=) | |
5 | g.38481710G>A | CA359533308 | LIFR | c.3179C>T (p.Pro1060Leu) c.3146C>T (p.Pro1049Leu) c.3233C>T (p.Pro1078Leu) | COSMIC COSMIC |
5 | g.38481710G>C | CA359533309 | LIFR | c.3179C>G (p.Pro1060Arg) c.3146C>G (p.Pro1049Arg) c.3233C>G (p.Pro1078Arg) | |
5 | g.38481710G>T | CA359533310 | LIFR | c.3179C>A (p.Pro1060Gln) c.3146C>A (p.Pro1049Gln) c.3233C>A (p.Pro1078Gln) | |
5 | g.38481711G>A | CA359533311 | LIFR | c.3178C>T (p.Pro1060Ser) c.3145C>T (p.Pro1049Ser) c.3232C>T (p.Pro1078Ser) | |
5 | g.38481711G>C | CA359533312 | LIFR | c.3178C>G (p.Pro1060Ala) c.3145C>G (p.Pro1049Ala) c.3232C>G (p.Pro1078Ala) | COSMIC COSMIC |
5 | g.38481711G>T | CA359533313 | LIFR | c.3178C>A (p.Pro1060Thr) c.3145C>A (p.Pro1049Thr) c.3232C>A (p.Pro1078Thr) | gnomAD v4 |
5 | g.38481712A= | CA1540248949 | LIFR | c.3177T= (p.Ser1059=) c.3144T= (p.Ser1048=) c.3231T= (p.Ser1077=) | |
5 | g.38481712A>C | CA359533315 | LIFR | c.3177T>G (p.Ser1059Arg) c.3144T>G (p.Ser1048Arg) c.3231T>G (p.Ser1077Arg) | gnomAD v4 |
5 | g.38481712A>G | CA3242489 | LIFR | c.3177T>C (p.Ser1059=) c.3144T>C (p.Ser1048=) c.3231T>C (p.Ser1077=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481712A>T | CA359533314 | LIFR | c.3177T>A (p.Ser1059Arg) c.3144T>A (p.Ser1048Arg) c.3231T>A (p.Ser1077Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481713C>A | CA359533316 | LIFR | c.3176G>T (p.Ser1059Ile) c.3143G>T (p.Ser1048Ile) c.3230G>T (p.Ser1077Ile) | |
5 | g.38481713C>G | CA359533317 | LIFR | c.3176G>C (p.Ser1059Thr) c.3143G>C (p.Ser1048Thr) c.3230G>C (p.Ser1077Thr) | |
5 | g.38481713C>T | CA359533318 | LIFR | c.3176G>A (p.Ser1059Asn) c.3143G>A (p.Ser1048Asn) c.3230G>A (p.Ser1077Asn) | |
5 | g.38481714T>A | CA359533319 | LIFR | c.3175A>T (p.Ser1059Cys) c.3142A>T (p.Ser1048Cys) c.3229A>T (p.Ser1077Cys) | |
5 | g.38481714T>C | CA359533320 | LIFR | c.3175A>G (p.Ser1059Gly) c.3142A>G (p.Ser1048Gly) c.3229A>G (p.Ser1077Gly) | |
5 | g.38481714T>G | CA359533321 | LIFR | c.3175A>C (p.Ser1059Arg) c.3142A>C (p.Ser1048Arg) c.3229A>C (p.Ser1077Arg) | |
5 | g.38481715T>A | CA444099051 | LIFR | c.3174A>T (p.Gly1058=) c.3141A>T (p.Gly1047=) c.3228A>T (p.Gly1076=) | |
5 | g.38481715T>C | CA444099052 | LIFR | c.3174A>G (p.Gly1058=) c.3141A>G (p.Gly1047=) c.3228A>G (p.Gly1076=) | ClinVar |
5 | g.38481715T>G | CA444099053 | LIFR | c.3174A>C (p.Gly1058=) c.3141A>C (p.Gly1047=) c.3228A>C (p.Gly1076=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481715T= | CA1540248953 | LIFR | c.3174A= (p.Gly1058=) c.3141A= (p.Gly1047=) c.3228A= (p.Gly1076=) | |
5 | g.38481716C>A | CA359533322 | LIFR | c.3173G>T (p.Gly1058Val) c.3140G>T (p.Gly1047Val) c.3227G>T (p.Gly1076Val) | |
5 | g.38481716C= | CA1540248956 | LIFR | c.3173G= (p.Gly1058=) c.3140G= (p.Gly1047=) c.3227G= (p.Gly1076=) | |
5 | g.38481716C>G | CA359533323 | LIFR | c.3173G>C (p.Gly1058Ala) c.3140G>C (p.Gly1047Ala) c.3227G>C (p.Gly1076Ala) | |
5 | g.38481716C>T | CA359533324 | LIFR | c.3173G>A (p.Gly1058Glu) c.3140G>A (p.Gly1047Glu) c.3227G>A (p.Gly1076Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.38481717C>A | CA359533325 | LIFR | c.3172G>T (p.Gly1058Ter) c.3139G>T (p.Gly1047Ter) c.3226G>T (p.Gly1076Ter) | |
5 | g.38481717C>G | CA359533326 | LIFR | c.3172G>C (p.Gly1058Arg) c.3139G>C (p.Gly1047Arg) c.3226G>C (p.Gly1076Arg) | |
5 | g.38481717C>T | CA359533327 | LIFR | c.3172G>A (p.Gly1058Arg) c.3139G>A (p.Gly1047Arg) c.3226G>A (p.Gly1076Arg) | |
5 | g.38481718A= | CA1540248960 | LIFR | c.3171T= (p.Phe1057=) c.3138T= (p.Phe1046=) c.3225T= (p.Phe1075=) | |
5 | g.38481718A>C | CA359533329 | LIFR | c.3171T>G (p.Phe1057Leu) c.3138T>G (p.Phe1046Leu) c.3225T>G (p.Phe1075Leu) | dbSNP gnomAD v4 |
5 | g.38481718A>G | CA3242490 | LIFR | c.3171T>C (p.Phe1057=) c.3138T>C (p.Phe1046=) c.3225T>C (p.Phe1075=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481718A>T | CA359533328 | LIFR | c.3171T>A (p.Phe1057Leu) c.3138T>A (p.Phe1046Leu) c.3225T>A (p.Phe1075Leu) | |
5 | g.38481719A>C | CA359533330 | LIFR | c.3170T>G (p.Phe1057Cys) c.3137T>G (p.Phe1046Cys) c.3224T>G (p.Phe1075Cys) | |
5 | g.38481719A>G | CA359533331 | LIFR | c.3170T>C (p.Phe1057Ser) c.3137T>C (p.Phe1046Ser) c.3224T>C (p.Phe1075Ser) | |
5 | g.38481719A>T | CA359533332 | LIFR | c.3170T>A (p.Phe1057Tyr) c.3137T>A (p.Phe1046Tyr) c.3224T>A (p.Phe1075Tyr) | |
5 | g.38481720A>C | CA359533333 | LIFR | c.3169T>G (p.Phe1057Val) c.3136T>G (p.Phe1046Val) c.3223T>G (p.Phe1075Val) | |
5 | g.38481720A>G | CA359533334 | LIFR | c.3169T>C (p.Phe1057Leu) c.3136T>C (p.Phe1046Leu) c.3223T>C (p.Phe1075Leu) | gnomAD v4 |
5 | g.38481720A>T | CA359533335 | LIFR | c.3169T>A (p.Phe1057Ile) c.3136T>A (p.Phe1046Ile) c.3223T>A (p.Phe1075Ile) | |
5 | g.38481721T>A | CA444099066 | LIFR | c.3168A>T (p.Ser1056=) c.3135A>T (p.Ser1045=) c.3222A>T (p.Ser1074=) | |
5 | g.38481721T>C | CA444099067 | LIFR | c.3168A>G (p.Ser1056=) c.3135A>G (p.Ser1045=) c.3222A>G (p.Ser1074=) | |
5 | g.38481721T>G | CA444099070 | LIFR | c.3168A>C (p.Ser1056=) c.3135A>C (p.Ser1045=) c.3222A>C (p.Ser1074=) | ClinVar gnomAD v4 |
5 | g.38481722G>A | CA359533336 | LIFR | c.3167C>T (p.Ser1056Leu) c.3134C>T (p.Ser1045Leu) c.3221C>T (p.Ser1074Leu) | gnomAD v4 |
5 | g.38481722G>C | CA117133994 | LIFR | c.3167C>G (p.Ser1056Ter) c.3134C>G (p.Ser1045Ter) c.3221C>G (p.Ser1074Ter) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481722G= | CA1540248963 | LIFR | c.3167C= (p.Ser1056=) c.3134C= (p.Ser1045=) c.3221C= (p.Ser1074=) | |
5 | g.38481722G>T | CA359533337 | LIFR | c.3167C>A (p.Ser1056Ter) c.3134C>A (p.Ser1045Ter) c.3221C>A (p.Ser1074Ter) | |
5 | g.38481723A= | CA1540248965 | LIFR | c.3166T= (p.Ser1056=) c.3133T= (p.Ser1045=) c.3220T= (p.Ser1074=) | |
5 | g.38481723A>C | CA359533338 | LIFR | c.3166T>G (p.Ser1056Ala) c.3133T>G (p.Ser1045Ala) c.3220T>G (p.Ser1074Ala) | |
5 | g.38481723A>G | CA3242491 | LIFR | c.3166T>C (p.Ser1056Pro) c.3133T>C (p.Ser1045Pro) c.3220T>C (p.Ser1074Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481723A>T | CA359533339 | LIFR | c.3166T>A (p.Ser1056Thr) c.3133T>A (p.Ser1045Thr) c.3220T>A (p.Ser1074Thr) | |
5 | g.38481724G>A | CA444099083 | LIFR | c.3165C>T (p.Val1055=) c.3132C>T (p.Val1044=) c.3219C>T (p.Val1073=) | |
5 | g.38481724G>C | CA444099081 | LIFR | c.3165C>G (p.Val1055=) c.3132C>G (p.Val1044=) c.3219C>G (p.Val1073=) | |
5 | g.38481724G>T | CA444099080 | LIFR | c.3165C>A (p.Val1055=) c.3132C>A (p.Val1044=) c.3219C>A (p.Val1073=) | gnomAD v4 |
5 | g.38481725A>C | CA359533341 | LIFR | c.3164T>G (p.Val1055Gly) c.3131T>G (p.Val1044Gly) c.3218T>G (p.Val1073Gly) | |
5 | g.38481725A>G | CA359533342 | LIFR | c.3164T>C (p.Val1055Ala) c.3131T>C (p.Val1044Ala) c.3218T>C (p.Val1073Ala) | |
5 | g.38481725A>T | CA359533340 | LIFR | c.3164T>A (p.Val1055Asp) c.3131T>A (p.Val1044Asp) c.3218T>A (p.Val1073Asp) | |
5 | g.38481726C>A | CA359533343 | LIFR | c.3163G>T (p.Val1055Phe) c.3130G>T (p.Val1044Phe) c.3217G>T (p.Val1073Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481726C= | CA1540248969 | LIFR | c.3163G= (p.Val1055=) c.3130G= (p.Val1044=) c.3217G= (p.Val1073=) | |
5 | g.38481726C>G | CA359533344 | LIFR | c.3163G>C (p.Val1055Leu) c.3130G>C (p.Val1044Leu) c.3217G>C (p.Val1073Leu) | |
5 | g.38481726C>T | CA359533345 | LIFR | c.3163G>A (p.Val1055Ile) c.3130G>A (p.Val1044Ile) c.3217G>A (p.Val1073Ile) | gnomAD v4 |
5 | g.38481727A>C | CA359533346 | LIFR | c.3162T>G (p.Ile1054Met) c.3129T>G (p.Ile1043Met) c.3216T>G (p.Ile1072Met) | |
5 | g.38481727A>G | CA444099095 | LIFR | c.3162T>C (p.Ile1054=) c.3129T>C (p.Ile1043=) c.3216T>C (p.Ile1072=) | ClinVar gnomAD v4 |
5 | g.38481727A>T | CA444099094 | LIFR | c.3162T>A (p.Ile1054=) c.3129T>A (p.Ile1043=) c.3216T>A (p.Ile1072=) | |
5 | g.38481728A>C | CA359533347 | LIFR | c.3161T>G (p.Ile1054Ser) c.3128T>G (p.Ile1043Ser) c.3215T>G (p.Ile1072Ser) | |
5 | g.38481728A>G | CA359533348 | LIFR | c.3161T>C (p.Ile1054Thr) c.3128T>C (p.Ile1043Thr) c.3215T>C (p.Ile1072Thr) | |
5 | g.38481728A>T | CA359533349 | LIFR | c.3161T>A (p.Ile1054Asn) c.3128T>A (p.Ile1043Asn) c.3215T>A (p.Ile1072Asn) | |
5 | g.38481729T>A | CA359533350 | LIFR | c.3160A>T (p.Ile1054Phe) c.3127A>T (p.Ile1043Phe) c.3214A>T (p.Ile1072Phe) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481729T>C | CA359533352 | LIFR | c.3160A>G (p.Ile1054Val) c.3127A>G (p.Ile1043Val) c.3214A>G (p.Ile1072Val) | |
5 | g.38481729T>G | CA359533351 | LIFR | c.3160A>C (p.Ile1054Leu) c.3127A>C (p.Ile1043Leu) c.3214A>C (p.Ile1072Leu) | COSMIC COSMIC |
5 | g.38481729T= | CA1540248973 | LIFR | c.3160A= (p.Ile1054=) c.3127A= (p.Ile1043=) c.3214A= (p.Ile1072=) | |
5 | g.38481730C>A | CA359533353 | LIFR | c.3159G>T (p.Glu1053Asp) c.3126G>T (p.Glu1042Asp) c.3213G>T (p.Glu1071Asp) | dbSNP gnomAD v4 |
5 | g.38481730C= | CA1540248976 | LIFR | c.3159G= (p.Glu1053=) c.3126G= (p.Glu1042=) c.3213G= (p.Glu1071=) | |
5 | g.38481730C>G | CA359533354 | LIFR | c.3159G>C (p.Glu1053Asp) c.3126G>C (p.Glu1042Asp) c.3213G>C (p.Glu1071Asp) | gnomAD v4 |
5 | g.38481730C>T | CA444099106 | LIFR | c.3159G>A (p.Glu1053=) c.3126G>A (p.Glu1042=) c.3213G>A (p.Glu1071=) | dbSNP |
5 | g.38481731T>A | CA359533355 | LIFR | c.3158A>T (p.Glu1053Val) c.3125A>T (p.Glu1042Val) c.3212A>T (p.Glu1071Val) | |
5 | g.38481731T>C | CA359533356 | LIFR | c.3158A>G (p.Glu1053Gly) c.3125A>G (p.Glu1042Gly) c.3212A>G (p.Glu1071Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481731T>G | CA359533357 | LIFR | c.3158A>C (p.Glu1053Ala) c.3125A>C (p.Glu1042Ala) c.3212A>C (p.Glu1071Ala) | |
5 | g.38481731T= | CA1540248982 | LIFR | c.3158A= (p.Glu1053=) c.3125A= (p.Glu1042=) c.3212A= (p.Glu1071=) | |
5 | g.38481732C>A | CA359533359 | LIFR | c.3157G>T (p.Glu1053Ter) c.3124G>T (p.Glu1042Ter) c.3211G>T (p.Glu1071Ter) | |
5 | g.38481732C>G | CA359533360 | LIFR | c.3157G>C (p.Glu1053Gln) c.3124G>C (p.Glu1042Gln) c.3211G>C (p.Glu1071Gln) | |
5 | g.38481732C>T | CA359533358 | LIFR | c.3157G>A (p.Glu1053Lys) c.3124G>A (p.Glu1042Lys) c.3211G>A (p.Glu1071Lys) | |
5 | g.38481733A>C | CA359533362 | LIFR | c.3156T>G (p.Ser1052Arg) c.3123T>G (p.Ser1041Arg) c.3210T>G (p.Ser1070Arg) | gnomAD v4 |
5 | g.38481733A>G | CA444099120 | LIFR | c.3156T>C (p.Ser1052=) c.3123T>C (p.Ser1041=) c.3210T>C (p.Ser1070=) | ClinVar gnomAD v4 |
5 | g.38481733A>T | CA359533361 | LIFR | c.3156T>A (p.Ser1052Arg) c.3123T>A (p.Ser1041Arg) c.3210T>A (p.Ser1070Arg) | |
5 | g.38481734C>A | CA3242492 | LIFR | c.3155G>T (p.Ser1052Ile) c.3122G>T (p.Ser1041Ile) c.3209G>T (p.Ser1070Ile) | dbSNP ExAC |
5 | g.38481734C= | CA1540248984 | LIFR | c.3155G= (p.Ser1052=) c.3122G= (p.Ser1041=) c.3209G= (p.Ser1070=) | |
5 | g.38481734C>G | CA359533363 | LIFR | c.3155G>C (p.Ser1052Thr) c.3122G>C (p.Ser1041Thr) c.3209G>C (p.Ser1070Thr) | |
5 | g.38481734C>T | CA359533364 | LIFR | c.3155G>A (p.Ser1052Asn) c.3122G>A (p.Ser1041Asn) c.3209G>A (p.Ser1070Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481735T>A | CA359533365 | LIFR | c.3154A>T (p.Ser1052Cys) c.3121A>T (p.Ser1041Cys) c.3208A>T (p.Ser1070Cys) | |
5 | g.38481735T>C | CA359533366 | LIFR | c.3154A>G (p.Ser1052Gly) c.3121A>G (p.Ser1041Gly) c.3208A>G (p.Ser1070Gly) | |
5 | g.38481735T>G | CA359533367 | LIFR | c.3154A>C (p.Ser1052Arg) c.3121A>C (p.Ser1041Arg) c.3208A>C (p.Ser1070Arg) | |
5 | g.38481736G>A | CA444099130 | LIFR | c.3153C>T (p.Asn1051=) c.3120C>T (p.Asn1040=) c.3207C>T (p.Asn1069=) | |
5 | g.38481736G>C | CA359533368 | LIFR | c.3153C>G (p.Asn1051Lys) c.3120C>G (p.Asn1040Lys) c.3207C>G (p.Asn1069Lys) | |
5 | g.38481736G>T | CA359533369 | LIFR | c.3153C>A (p.Asn1051Lys) c.3120C>A (p.Asn1040Lys) c.3207C>A (p.Asn1069Lys) | |
5 | g.38481737T>A | CA359533370 | LIFR | c.3152A>T (p.Asn1051Ile) c.3119A>T (p.Asn1040Ile) c.3206A>T (p.Asn1069Ile) | |
5 | g.38481737T>C | CA359533371 | LIFR | c.3152A>G (p.Asn1051Ser) c.3119A>G (p.Asn1040Ser) c.3206A>G (p.Asn1069Ser) | |
5 | g.38481737T>G | CA359533372 | LIFR | c.3152A>C (p.Asn1051Thr) c.3119A>C (p.Asn1040Thr) c.3206A>C (p.Asn1069Thr) | |
5 | g.38481738T>A | CA359533373 | LIFR | c.3151A>T (p.Asn1051Tyr) c.3118A>T (p.Asn1040Tyr) c.3205A>T (p.Asn1069Tyr) | COSMIC COSMIC |
5 | g.38481738T>C | CA359533374 | LIFR | c.3151A>G (p.Asn1051Asp) c.3118A>G (p.Asn1040Asp) c.3205A>G (p.Asn1069Asp) | |
5 | g.38481738T>G | CA359533375 | LIFR | c.3151A>C (p.Asn1051His) c.3118A>C (p.Asn1040His) c.3205A>C (p.Asn1069His) | |
5 | g.38481740_38481742del | CA2673627544 | LIFR | c.3149_3151del (p.Ser1050del) c.3116_3118del (p.Ser1039del) c.3203_3205del (p.Ser1068del) | gnomAD v4 |
5 | g.38481739G>A | CA444099148 | LIFR | c.3150C>T (p.Ser1050=) c.3117C>T (p.Ser1039=) c.3204C>T (p.Ser1068=) | gnomAD v4 |
5 | g.38481739G>C | CA359533376 | LIFR | c.3150C>G (p.Ser1050Arg) c.3117C>G (p.Ser1039Arg) c.3204C>G (p.Ser1068Arg) | |
5 | g.38481739G>T | CA359533377 | LIFR | c.3150C>A (p.Ser1050Arg) c.3117C>A (p.Ser1039Arg) c.3204C>A (p.Ser1068Arg) | |
5 | g.38481740C>A | CA359533380 | LIFR | c.3149G>T (p.Ser1050Ile) c.3116G>T (p.Ser1039Ile) c.3203G>T (p.Ser1068Ile) | |
5 | g.38481740C= | CA1540248989 | LIFR | c.3149G= (p.Ser1050=) c.3116G= (p.Ser1039=) c.3203G= (p.Ser1068=) | |
5 | g.38481740C>G | CA359533378 | LIFR | c.3149G>C (p.Ser1050Thr) c.3116G>C (p.Ser1039Thr) c.3203G>C (p.Ser1068Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481740C>T | CA359533379 | LIFR | c.3149G>A (p.Ser1050Asn) c.3116G>A (p.Ser1039Asn) c.3203G>A (p.Ser1068Asn) | |
5 | g.38481741T>A | CA359533381 | LIFR | c.3148A>T (p.Ser1050Cys) c.3115A>T (p.Ser1039Cys) c.3202A>T (p.Ser1068Cys) | |
5 | g.38481741T>C | CA3242493 | LIFR | c.3148A>G (p.Ser1050Gly) c.3115A>G (p.Ser1039Gly) c.3202A>G (p.Ser1068Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481741T>G | CA359533382 | LIFR | c.3148A>C (p.Ser1050Arg) c.3115A>C (p.Ser1039Arg) c.3202A>C (p.Ser1068Arg) | |
5 | g.38481741T= | CA1540248992 | LIFR | c.3148A= (p.Ser1050=) c.3115A= (p.Ser1039=) c.3202A= (p.Ser1068=) | |
5 | g.38481742G>A | CA3242494 | LIFR | c.3147C>T (p.Asp1049=) c.3114C>T (p.Asp1038=) c.3201C>T (p.Asp1067=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481742G>C | CA359533383 | LIFR | c.3147C>G (p.Asp1049Glu) c.3114C>G (p.Asp1038Glu) c.3201C>G (p.Asp1067Glu) | |
5 | g.38481742G= | CA1540248996 | LIFR | c.3147C= (p.Asp1049=) c.3114C= (p.Asp1038=) c.3201C= (p.Asp1067=) | |
5 | g.38481742G>T | CA359533384 | LIFR | c.3147C>A (p.Asp1049Glu) c.3114C>A (p.Asp1038Glu) c.3201C>A (p.Asp1067Glu) | |
5 | g.38481743T>A | CA359533385 | LIFR | c.3146A>T (p.Asp1049Val) c.3113A>T (p.Asp1038Val) c.3200A>T (p.Asp1067Val) | gnomAD v4 |
5 | g.38481743T>C | CA359533386 | LIFR | c.3146A>G (p.Asp1049Gly) c.3113A>G (p.Asp1038Gly) c.3200A>G (p.Asp1067Gly) | |
5 | g.38481743T>G | CA359533387 | LIFR | c.3146A>C (p.Asp1049Ala) c.3113A>C (p.Asp1038Ala) c.3200A>C (p.Asp1067Ala) | |
5 | g.38481744C>A | CA359533388 | LIFR | c.3145G>T (p.Asp1049Tyr) c.3112G>T (p.Asp1038Tyr) c.3199G>T (p.Asp1067Tyr) | |
5 | g.38481744C>G | CA359533389 | LIFR | c.3145G>C (p.Asp1049His) c.3112G>C (p.Asp1038His) c.3199G>C (p.Asp1067His) | |
5 | g.38481744C>T | CA359533390 | LIFR | c.3145G>A (p.Asp1049Asn) c.3112G>A (p.Asp1038Asn) c.3199G>A (p.Asp1067Asn) | |
5 | g.38481745T>A | CA444099167 | LIFR | c.3144A>T (p.Ile1048=) c.3111A>T (p.Ile1037=) c.3198A>T (p.Ile1066=) | |
5 | g.38481745T>C | CA359533391 | LIFR | c.3144A>G (p.Ile1048Met) c.3111A>G (p.Ile1037Met) c.3198A>G (p.Ile1066Met) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481745T>G | CA444099172 | LIFR | c.3144A>C (p.Ile1048=) c.3111A>C (p.Ile1037=) c.3198A>C (p.Ile1066=) | |
5 | g.38481745T= | CA1540248999 | LIFR | c.3144A= (p.Ile1048=) c.3111A= (p.Ile1037=) c.3198A= (p.Ile1066=) | |
5 | g.38481746A= | CA1540249002 | LIFR | c.3143T= (p.Ile1048=) c.3110T= (p.Ile1037=) c.3197T= (p.Ile1066=) | |
5 | g.38481746A>C | CA359533393 | LIFR | c.3143T>G (p.Ile1048Arg) c.3110T>G (p.Ile1037Arg) c.3197T>G (p.Ile1066Arg) | |
5 | g.38481746A>G | CA3242495 | LIFR | c.3143T>C (p.Ile1048Thr) c.3110T>C (p.Ile1037Thr) c.3197T>C (p.Ile1066Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481746A>T | CA359533392 | LIFR | c.3143T>A (p.Ile1048Lys) c.3110T>A (p.Ile1037Lys) c.3197T>A (p.Ile1066Lys) | |
5 | g.38481747T>A | CA359533394 | LIFR | c.3142A>T (p.Ile1048Leu) c.3109A>T (p.Ile1037Leu) c.3196A>T (p.Ile1066Leu) | |
5 | g.38481747T>C | CA359533395 | LIFR | c.3142A>G (p.Ile1048Val) c.3109A>G (p.Ile1037Val) c.3196A>G (p.Ile1066Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481747T>G | CA359533396 | LIFR | c.3142A>C (p.Ile1048Leu) c.3109A>C (p.Ile1037Leu) c.3196A>C (p.Ile1066Leu) | |
5 | g.38481747T= | CA1540249004 | LIFR | c.3142A= (p.Ile1048=) c.3109A= (p.Ile1037=) c.3196A= (p.Ile1066=) | |
5 | g.38481748G>A | CA3242496 | LIFR | c.3141C>T (p.Ser1047=) c.3108C>T (p.Ser1036=) c.3195C>T (p.Ser1065=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481748G>C | CA444099185 | LIFR | c.3141C>G (p.Ser1047=) c.3108C>G (p.Ser1036=) c.3195C>G (p.Ser1065=) | gnomAD v4 |
5 | g.38481748G= | CA1540249007 | LIFR | c.3141C= (p.Ser1047=) c.3108C= (p.Ser1036=) c.3195C= (p.Ser1065=) | |
5 | g.38481748G>T | CA444099186 | LIFR | c.3141C>A (p.Ser1047=) c.3108C>A (p.Ser1036=) c.3195C>A (p.Ser1065=) | |
5 | g.38481749G>A | CA359533399 | LIFR | c.3140C>T (p.Ser1047Phe) c.3107C>T (p.Ser1036Phe) c.3194C>T (p.Ser1065Phe) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481749G>C | CA359533397 | LIFR | c.3140C>G (p.Ser1047Cys) c.3107C>G (p.Ser1036Cys) c.3194C>G (p.Ser1065Cys) | |
5 | g.38481749G= | CA1540249010 | LIFR | c.3140C= (p.Ser1047=) c.3107C= (p.Ser1036=) c.3194C= (p.Ser1065=) | |
5 | g.38481749G>T | CA359533398 | LIFR | c.3140C>A (p.Ser1047Tyr) c.3107C>A (p.Ser1036Tyr) c.3194C>A (p.Ser1065Tyr) | |
5 | g.38481750A>C | CA359533400 | LIFR | c.3139T>G (p.Ser1047Ala) c.3106T>G (p.Ser1036Ala) c.3193T>G (p.Ser1065Ala) | |
5 | g.38481750A>G | CA359533401 | LIFR | c.3139T>C (p.Ser1047Pro) c.3106T>C (p.Ser1036Pro) c.3193T>C (p.Ser1065Pro) | gnomAD v4 |
5 | g.38481750A>T | CA359533402 | LIFR | c.3139T>A (p.Ser1047Thr) c.3106T>A (p.Ser1036Thr) c.3193T>A (p.Ser1065Thr) | |
5 | g.38481751T>A | CA359533403 | LIFR | c.3138A>T (p.Arg1046Ser) c.3105A>T (p.Arg1035Ser) c.3192A>T (p.Arg1064Ser) | |
5 | g.38481751T>C | CA444099204 | LIFR | c.3138A>G (p.Arg1046=) c.3105A>G (p.Arg1035=) c.3192A>G (p.Arg1064=) | |
5 | g.38481751T>G | CA359533404 | LIFR | c.3138A>C (p.Arg1046Ser) c.3105A>C (p.Arg1035Ser) c.3192A>C (p.Arg1064Ser) | gnomAD v4 |
5 | g.38481752C>A | CA359533405 | LIFR | c.3137G>T (p.Arg1046Ile) c.3104G>T (p.Arg1035Ile) c.3191G>T (p.Arg1064Ile) | COSMIC COSMIC |
5 | g.38481752C>G | CA359533407 | LIFR | c.3137G>C (p.Arg1046Thr) c.3104G>C (p.Arg1035Thr) c.3191G>C (p.Arg1064Thr) | |
5 | g.38481752C>T | CA359533406 | LIFR | c.3137G>A (p.Arg1046Lys) c.3104G>A (p.Arg1035Lys) c.3191G>A (p.Arg1064Lys) | |
5 | g.38481753T>A | CA359533408 | LIFR | c.3136A>T (p.Arg1046Ter) c.3103A>T (p.Arg1035Ter) c.3190A>T (p.Arg1064Ter) | gnomAD v4 |
5 | g.38481753T>C | CA359533409 | LIFR | c.3136A>G (p.Arg1046Gly) c.3103A>G (p.Arg1035Gly) c.3190A>G (p.Arg1064Gly) | gnomAD v4 |
5 | g.38481753T>G | CA444099213 | LIFR | c.3136A>C (p.Arg1046=) c.3103A>C (p.Arg1035=) c.3190A>C (p.Arg1064=) | |
5 | g.38481754A= | CA1540249012 | LIFR | c.3135T= (p.Pro1045=) c.3102T= (p.Pro1034=) c.3189T= (p.Pro1063=) | |
5 | g.38481754A>C | CA444099214 | LIFR | c.3135T>G (p.Pro1045=) c.3102T>G (p.Pro1034=) c.3189T>G (p.Pro1063=) | |
5 | g.38481754A>G | CA3242497 | LIFR | c.3135T>C (p.Pro1045=) c.3102T>C (p.Pro1034=) c.3189T>C (p.Pro1063=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481754A>T | CA444099217 | LIFR | c.3135T>A (p.Pro1045=) c.3102T>A (p.Pro1034=) c.3189T>A (p.Pro1063=) | |
5 | g.38481755G>A | CA359533410 | LIFR | c.3134C>T (p.Pro1045Leu) c.3101C>T (p.Pro1034Leu) c.3188C>T (p.Pro1063Leu) | |
5 | g.38481755G>C | CA359533411 | LIFR | c.3134C>G (p.Pro1045Arg) c.3101C>G (p.Pro1034Arg) c.3188C>G (p.Pro1063Arg) | |
5 | g.38481755G>T | CA359533412 | LIFR | c.3134C>A (p.Pro1045His) c.3101C>A (p.Pro1034His) c.3188C>A (p.Pro1063His) | |
5 | g.38481756G>A | CA359533413 | LIFR | c.3133C>T (p.Pro1045Ser) c.3100C>T (p.Pro1034Ser) c.3187C>T (p.Pro1063Ser) | |
5 | g.38481756G>C | CA359533414 | LIFR | c.3133C>G (p.Pro1045Ala) c.3100C>G (p.Pro1034Ala) c.3187C>G (p.Pro1063Ala) | |
5 | g.38481756G= | CA1540249017 | LIFR | c.3133C= (p.Pro1045=) c.3100C= (p.Pro1034=) c.3187C= (p.Pro1063=) | |
5 | g.38481756G>T | CA3242498 | LIFR | c.3133C>A (p.Pro1045Thr) c.3100C>A (p.Pro1034Thr) c.3187C>A (p.Pro1063Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481759_38481760del | CA2673627545 | LIFR | c.3132_3133del (p.Pro1045Ter) c.3099_3100del (p.Pro1034Ter) c.3186_3187del (p.Pro1063Ter) | gnomAD v4 |
5 | g.38481757A= | CA1540249025 | LIFR | c.3132T= (p.Ser1044=) c.3099T= (p.Ser1033=) c.3186T= (p.Ser1062=) | |
5 | g.38481757A>C | CA444099228 | LIFR | c.3132T>G (p.Ser1044=) c.3099T>G (p.Ser1033=) c.3186T>G (p.Ser1062=) | |
5 | g.38481757A>G | CA3242499 | LIFR | c.3132T>C (p.Ser1044=) c.3099T>C (p.Ser1033=) c.3186T>C (p.Ser1062=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481757A>T | CA444099233 | LIFR | c.3132T>A (p.Ser1044=) c.3099T>A (p.Ser1033=) c.3186T>A (p.Ser1062=) | |
5 | g.38481758G>A | CA359533416 | LIFR | c.3131C>T (p.Ser1044Phe) c.3098C>T (p.Ser1033Phe) c.3185C>T (p.Ser1062Phe) | ClinVar dbSNP gnomAD v4 |
5 | g.38481758G>C | CA3242500 | LIFR | c.3131C>G (p.Ser1044Cys) c.3098C>G (p.Ser1033Cys) c.3185C>G (p.Ser1062Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481758G= | CA1540249032 | LIFR | c.3131C= (p.Ser1044=) c.3098C= (p.Ser1033=) c.3185C= (p.Ser1062=) | |
5 | g.38481758G>T | CA359533415 | LIFR | c.3131C>A (p.Ser1044Tyr) c.3098C>A (p.Ser1033Tyr) c.3185C>A (p.Ser1062Tyr) | |
5 | g.38481759A>C | CA359533417 | LIFR | c.3130T>G (p.Ser1044Ala) c.3097T>G (p.Ser1033Ala) c.3184T>G (p.Ser1062Ala) | |
5 | g.38481759A>G | CA359533419 | LIFR | c.3130T>C (p.Ser1044Pro) c.3097T>C (p.Ser1033Pro) c.3184T>C (p.Ser1062Pro) | gnomAD v4 |
5 | g.38481759A>T | CA359533418 | LIFR | c.3130T>A (p.Ser1044Thr) c.3097T>A (p.Ser1033Thr) c.3184T>A (p.Ser1062Thr) | |
5 | g.38481760G>A | CA444099240 | LIFR | c.3129C>T (p.Asp1043=) c.3096C>T (p.Asp1032=) c.3183C>T (p.Asp1061=) | |
5 | g.38481760G>C | CA359533420 | LIFR | c.3129C>G (p.Asp1043Glu) c.3096C>G (p.Asp1032Glu) c.3183C>G (p.Asp1061Glu) | gnomAD v4 |
5 | g.38481760G>T | CA359533421 | LIFR | c.3129C>A (p.Asp1043Glu) c.3096C>A (p.Asp1032Glu) c.3183C>A (p.Asp1061Glu) | |
5 | g.38481761T>A | CA359533422 | LIFR | c.3128A>T (p.Asp1043Val) c.3095A>T (p.Asp1032Val) c.3182A>T (p.Asp1061Val) | |
5 | g.38481761T>C | CA359533423 | LIFR | c.3128A>G (p.Asp1043Gly) c.3095A>G (p.Asp1032Gly) c.3182A>G (p.Asp1061Gly) | |
5 | g.38481761T>G | CA359533424 | LIFR | c.3128A>C (p.Asp1043Ala) c.3095A>C (p.Asp1032Ala) c.3182A>C (p.Asp1061Ala) | |
5 | g.38481762C>A | CA359533425 | LIFR | c.3127G>T (p.Asp1043Tyr) c.3094G>T (p.Asp1032Tyr) c.3181G>T (p.Asp1061Tyr) | |
5 | g.38481762C= | CA1540249034 | LIFR | c.3127G= (p.Asp1043=) c.3094G= (p.Asp1032=) c.3181G= (p.Asp1061=) | |
5 | g.38481762C>G | CA117134037 | LIFR | c.3127G>C (p.Asp1043His) c.3094G>C (p.Asp1032His) c.3181G>C (p.Asp1061His) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481762C>T | CA359533426 | LIFR | c.3127G>A (p.Asp1043Asn) c.3094G>A (p.Asp1032Asn) c.3181G>A (p.Asp1061Asn) | gnomAD v4 COSMIC COSMIC |
5 | g.38481763T>A | CA444099257 | LIFR | c.3126A>T (p.Pro1042=) c.3093A>T (p.Pro1031=) c.3180A>T (p.Pro1060=) | |
5 | g.38481763T>C | CA444099260 | LIFR | c.3126A>G (p.Pro1042=) c.3093A>G (p.Pro1031=) c.3180A>G (p.Pro1060=) | gnomAD v4 |
5 | g.38481763T>G | CA444099258 | LIFR | c.3126A>C (p.Pro1042=) c.3093A>C (p.Pro1031=) c.3180A>C (p.Pro1060=) | |
5 | g.38481764G>A | CA359533427 | LIFR | c.3125C>T (p.Pro1042Leu) c.3092C>T (p.Pro1031Leu) c.3179C>T (p.Pro1060Leu) | |
5 | g.38481764G>C | CA359533428 | LIFR | c.3125C>G (p.Pro1042Arg) c.3092C>G (p.Pro1031Arg) c.3179C>G (p.Pro1060Arg) | |
5 | g.38481764G>T | CA359533429 | LIFR | c.3125C>A (p.Pro1042Gln) c.3092C>A (p.Pro1031Gln) c.3179C>A (p.Pro1060Gln) | |
5 | g.38481765G>A | CA359533432 | LIFR | c.3124C>T (p.Pro1042Ser) c.3091C>T (p.Pro1031Ser) c.3178C>T (p.Pro1060Ser) | gnomAD v4 COSMIC COSMIC |
5 | g.38481765G>C | CA359533431 | LIFR | c.3124C>G (p.Pro1042Ala) c.3091C>G (p.Pro1031Ala) c.3178C>G (p.Pro1060Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481765G= | CA1540249038 | LIFR | c.3124C= (p.Pro1042=) c.3091C= (p.Pro1031=) c.3178C= (p.Pro1060=) | |
5 | g.38481765G>T | CA359533430 | LIFR | c.3124C>A (p.Pro1042Thr) c.3091C>A (p.Pro1031Thr) c.3178C>A (p.Pro1060Thr) | |
5 | g.38481766A>C | CA444099269 | LIFR | c.3123T>G (p.Ser1041=) c.3090T>G (p.Ser1030=) c.3177T>G (p.Ser1059=) | |
5 | g.38481766A>G | CA444099270 | LIFR | c.3123T>C (p.Ser1041=) c.3090T>C (p.Ser1030=) c.3177T>C (p.Ser1059=) | |
5 | g.38481766A>T | CA444099271 | LIFR | c.3123T>A (p.Ser1041=) c.3090T>A (p.Ser1030=) c.3177T>A (p.Ser1059=) |