Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.38481600_38481605delinsCGTTTG | CA1540248748 | LIFR | c.3284_3289delinsCAAACG (p.Pro1095=) c.3251_3256delinsCAAACG (p.Pro1084=) c.3338_3343delinsCAAACG (p.Pro1113=) | |
5 | g.38481601G>A | CA201780 | LIFR | c.3288C>T (p.Asn1096=) c.3255C>T (p.Asn1085=) c.3342C>T (p.Asn1114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481601G>C | CA359533031 | LIFR | c.3288C>G (p.Asn1096Lys) c.3255C>G (p.Asn1085Lys) c.3342C>G (p.Asn1114Lys) | |
5 | g.38481601G= | CA1540248761 | LIFR | c.3288C= (p.Asn1096=) c.3255C= (p.Asn1085=) c.3342C= (p.Asn1114=) | |
5 | g.38481601G>T | CA3242471 | LIFR | c.3288C>A (p.Asn1096Lys) c.3255C>A (p.Asn1085Lys) c.3342C>A (p.Asn1114Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481606_38481610del | CA117133906 | LIFR | c.3284_3288del (p.Pro1095ArgfsTer15) c.3251_3255del (p.Pro1084ArgfsTer15) c.3338_3342del (p.Pro1113ArgfsTer15) | dbSNP gnomAD v4 |
5 | g.38481602T>A | CA359533034 | LIFR | c.3287A>T (p.Asn1096Ile) c.3254A>T (p.Asn1085Ile) c.3341A>T (p.Asn1114Ile) | |
5 | g.38481602T>C | CA359533035 | LIFR | c.3287A>G (p.Asn1096Ser) c.3254A>G (p.Asn1085Ser) c.3341A>G (p.Asn1114Ser) | |
5 | g.38481602T>G | CA359533036 | LIFR | c.3287A>C (p.Asn1096Thr) c.3254A>C (p.Asn1085Thr) c.3341A>C (p.Asn1114Thr) | |
5 | g.38481603T>A | CA359533037 | LIFR | c.3286A>T (p.Asn1096Tyr) c.3253A>T (p.Asn1085Tyr) c.3340A>T (p.Asn1114Tyr) | |
5 | g.38481603T>C | CA359533038 | LIFR | c.3286A>G (p.Asn1096Asp) c.3253A>G (p.Asn1085Asp) c.3340A>G (p.Asn1114Asp) | |
5 | g.38481603T>G | CA359533039 | LIFR | c.3286A>C (p.Asn1096His) c.3253A>C (p.Asn1085His) c.3340A>C (p.Asn1114His) | |
5 | g.38481604T>A | CA444098734 | LIFR | c.3285A>T (p.Pro1095=) c.3252A>T (p.Pro1084=) c.3339A>T (p.Pro1113=) | |
5 | g.38481604T>C | CA3242472 | LIFR | c.3285A>G (p.Pro1095=) c.3252A>G (p.Pro1084=) c.3339A>G (p.Pro1113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481604T>G | CA444098735 | LIFR | c.3285A>C (p.Pro1095=) c.3252A>C (p.Pro1084=) c.3339A>C (p.Pro1113=) | |
5 | g.38481604T= | CA1540248768 | LIFR | c.3285A= (p.Pro1095=) c.3252A= (p.Pro1084=) c.3339A= (p.Pro1113=) | |
5 | g.38481605G>A | CA3242473 | LIFR | c.3284C>T (p.Pro1095Leu) c.3251C>T (p.Pro1084Leu) c.3338C>T (p.Pro1113Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481605G>C | CA359533040 | LIFR | c.3284C>G (p.Pro1095Arg) c.3251C>G (p.Pro1084Arg) c.3338C>G (p.Pro1113Arg) | |
5 | g.38481605G= | CA1540248771 | LIFR | c.3284C= (p.Pro1095=) c.3251C= (p.Pro1084=) c.3338C= (p.Pro1113=) | |
5 | g.38481605G>T | CA359533041 | LIFR | c.3284C>A (p.Pro1095Gln) c.3251C>A (p.Pro1084Gln) c.3338C>A (p.Pro1113Gln) | |
5 | g.38481605_38481609delinsGGTTT | CA1540248770 | LIFR | c.3280_3284delinsAAACC (p.Lys1094=) c.3247_3251delinsAAACC (p.Lys1083=) c.3334_3338delinsAAACC (p.Lys1112=) | |
5 | g.38481606G>A | CA359533045 | LIFR | c.3283C>T (p.Pro1095Ser) c.3250C>T (p.Pro1084Ser) c.3337C>T (p.Pro1113Ser) | dbSNP gnomAD v4 |
5 | g.38481606G>C | CA359533042 | LIFR | c.3283C>G (p.Pro1095Ala) c.3250C>G (p.Pro1084Ala) c.3337C>G (p.Pro1113Ala) | |
5 | g.38481606G= | CA1540248778 | LIFR | c.3283C= (p.Pro1095=) c.3250C= (p.Pro1084=) c.3337C= (p.Pro1113=) | |
5 | g.38481606G>T | CA359533043 | LIFR | c.3283C>A (p.Pro1095Thr) c.3250C>A (p.Pro1084Thr) c.3337C>A (p.Pro1113Thr) | |
5 | g.38481609_38481612del | CA3242474 | LIFR | c.3280_3283del (p.Lys1094GlnfsTer21) c.3247_3250del (p.Lys1083GlnfsTer21) c.3334_3337del (p.Lys1112GlnfsTer21) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481607T>A | CA359533047 | LIFR | c.3282A>T (p.Lys1094Asn) c.3249A>T (p.Lys1083Asn) c.3336A>T (p.Lys1112Asn) | |
5 | g.38481607T>C | CA444098742 | LIFR | c.3282A>G (p.Lys1094=) c.3249A>G (p.Lys1083=) c.3336A>G (p.Lys1112=) | |
5 | g.38481607T>G | CA359533049 | LIFR | c.3282A>C (p.Lys1094Asn) c.3249A>C (p.Lys1083Asn) c.3336A>C (p.Lys1112Asn) | |
5 | g.38481608T>A | CA359533050 | LIFR | c.3281A>T (p.Lys1094Ile) c.3248A>T (p.Lys1083Ile) c.3335A>T (p.Lys1112Ile) | |
5 | g.38481608T>C | CA359533052 | LIFR | c.3281A>G (p.Lys1094Arg) c.3248A>G (p.Lys1083Arg) c.3335A>G (p.Lys1112Arg) | |
5 | g.38481608T>G | CA359533056 | LIFR | c.3281A>C (p.Lys1094Thr) c.3248A>C (p.Lys1083Thr) c.3335A>C (p.Lys1112Thr) | |
5 | g.38481609T>A | CA359533058 | LIFR | c.3280A>T (p.Lys1094Ter) c.3247A>T (p.Lys1083Ter) c.3334A>T (p.Lys1112Ter) | |
5 | g.38481609T>C | CA359533060 | LIFR | c.3280A>G (p.Lys1094Glu) c.3247A>G (p.Lys1083Glu) c.3334A>G (p.Lys1112Glu) | |
5 | g.38481609T>G | CA359533062 | LIFR | c.3280A>C (p.Lys1094Gln) c.3247A>C (p.Lys1083Gln) c.3334A>C (p.Lys1112Gln) | |
5 | g.38481610G>A | CA3242475 | LIFR | c.3279C>T (p.Asn1093=) c.3246C>T (p.Asn1082=) c.3333C>T (p.Asn1111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481610G>C | CA359533065 | LIFR | c.3279C>G (p.Asn1093Lys) c.3246C>G (p.Asn1082Lys) c.3333C>G (p.Asn1111Lys) | |
5 | g.38481610G= | CA1540248784 | LIFR | c.3279C= (p.Asn1093=) c.3246C= (p.Asn1082=) c.3333C= (p.Asn1111=) | |
5 | g.38481610G>T | CA359533066 | LIFR | c.3279C>A (p.Asn1093Lys) c.3246C>A (p.Asn1082Lys) c.3333C>A (p.Asn1111Lys) | |
5 | g.38481611T>A | CA359533069 | LIFR | c.3278A>T (p.Asn1093Ile) c.3245A>T (p.Asn1082Ile) c.3332A>T (p.Asn1111Ile) | |
5 | g.38481611T>C | CA359533071 | LIFR | c.3278A>G (p.Asn1093Ser) c.3245A>G (p.Asn1082Ser) c.3332A>G (p.Asn1111Ser) | dbSNP |
5 | g.38481611T>G | CA359533068 | LIFR | c.3278A>C (p.Asn1093Thr) c.3245A>C (p.Asn1082Thr) c.3332A>C (p.Asn1111Thr) | |
5 | g.38481611T= | CA1540248789 | LIFR | c.3278A= (p.Asn1093=) c.3245A= (p.Asn1082=) c.3332A= (p.Asn1111=) | |
5 | g.38481612T>A | CA359533073 | LIFR | c.3277A>T (p.Asn1093Tyr) c.3244A>T (p.Asn1082Tyr) c.3331A>T (p.Asn1111Tyr) | |
5 | g.38481612T>C | CA359533074 | LIFR | c.3277A>G (p.Asn1093Asp) c.3244A>G (p.Asn1082Asp) c.3331A>G (p.Asn1111Asp) | |
5 | g.38481612T>G | CA359533075 | LIFR | c.3277A>C (p.Asn1093His) c.3244A>C (p.Asn1082His) c.3331A>C (p.Asn1111His) | |
5 | g.38481613C>A | CA359533076 | LIFR | c.3276G>T (p.Gln1092His) c.3243G>T (p.Gln1081His) c.3330G>T (p.Gln1110His) | |
5 | g.38481613C>G | CA359533078 | LIFR | c.3276G>C (p.Gln1092His) c.3243G>C (p.Gln1081His) c.3330G>C (p.Gln1110His) | |
5 | g.38481613C>T | CA444098752 | LIFR | c.3276G>A (p.Gln1092=) c.3243G>A (p.Gln1081=) c.3330G>A (p.Gln1110=) | gnomAD v4 |
5 | g.38481614T>A | CA359533080 | LIFR | c.3275A>T (p.Gln1092Leu) c.3242A>T (p.Gln1081Leu) c.3329A>T (p.Gln1110Leu) |