UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.38481606_38481610del | CA117133906 | LIFR | c.3284_3288del (p.Pro1095ArgfsTer15) c.3251_3255del (p.Pro1084ArgfsTer15) c.3338_3342del (p.Pro1113ArgfsTer15) | dbSNP gnomAD v4 |
| 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) | |
| 5 | g.38481614T>C | CA359533081 | LIFR | c.3275A>G (p.Gln1092Arg) c.3242A>G (p.Gln1081Arg) c.3329A>G (p.Gln1110Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481614T>G | CA359533082 | LIFR | c.3275A>C (p.Gln1092Pro) c.3242A>C (p.Gln1081Pro) c.3329A>C (p.Gln1110Pro) | |
| 5 | g.38481614T= | CA1540248791 | LIFR | c.3275A= (p.Gln1092=) c.3242A= (p.Gln1081=) c.3329A= (p.Gln1110=) | |
| 5 | g.38481615G>A | CA359533083 | LIFR | c.3274C>T (p.Gln1092Ter) c.3241C>T (p.Gln1081Ter) c.3328C>T (p.Gln1110Ter) | gnomAD v4 |
| 5 | g.38481615G>C | CA359533085 | LIFR | c.3274C>G (p.Gln1092Glu) c.3241C>G (p.Gln1081Glu) c.3328C>G (p.Gln1110Glu) | COSMIC COSMIC |
| 5 | g.38481615G>T | CA359533086 | LIFR | c.3274C>A (p.Gln1092Lys) c.3241C>A (p.Gln1081Lys) c.3328C>A (p.Gln1110Lys) | |
| 5 | g.38481615_38481617delinsGAA | CA1540248800 | LIFR | c.3272_3274delinsTTC (p.Phe1091=) c.3239_3241delinsTTC (p.Phe1080=) c.3326_3328delinsTTC (p.Phe1109=) | |
| 5 | g.38481616A>C | CA359533087 | LIFR | c.3273T>G (p.Phe1091Leu) c.3240T>G (p.Phe1080Leu) c.3327T>G (p.Phe1109Leu) | |
| 5 | g.38481616A>G | CA444098757 | LIFR | c.3273T>C (p.Phe1091=) c.3240T>C (p.Phe1080=) c.3327T>C (p.Phe1109=) | |
| 5 | g.38481616A>T | CA359533089 | LIFR | c.3273T>A (p.Phe1091Leu) c.3240T>A (p.Phe1080Leu) c.3327T>A (p.Phe1109Leu) | |
| 5 | g.38481621dup | CA559296044 | LIFR | c.3273dup (p.Gln1092SerfsTer20) c.3240dup (p.Gln1081SerfsTer20) c.3327dup (p.Gln1110SerfsTer20) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38481620_38481621del | CA810423142 | LIFR | c.3272_3273del (p.Phe1091SerfsTer20) c.3239_3240del (p.Phe1080SerfsTer20) c.3326_3327del (p.Phe1109SerfsTer20) | dbSNP |
| 5 | g.38481617A>C | CA359533092 | LIFR | c.3272T>G (p.Phe1091Cys) c.3239T>G (p.Phe1080Cys) c.3326T>G (p.Phe1109Cys) | |
| 5 | g.38481617A>G | CA359533091 | LIFR | c.3272T>C (p.Phe1091Ser) c.3239T>C (p.Phe1080Ser) c.3326T>C (p.Phe1109Ser) | |
| 5 | g.38481617A>T | CA359533090 | LIFR | c.3272T>A (p.Phe1091Tyr) c.3239T>A (p.Phe1080Tyr) c.3326T>A (p.Phe1109Tyr) | |
| 5 | g.38481618A= | CA1540248808 | LIFR | c.3271T= (p.Phe1091=) c.3238T= (p.Phe1080=) c.3325T= (p.Phe1109=) | |
| 5 | g.38481618A>C | CA359533094 | LIFR | c.3271T>G (p.Phe1091Val) c.3238T>G (p.Phe1080Val) c.3325T>G (p.Phe1109Val) | |
| 5 | g.38481618A>G | CA359533096 | LIFR | c.3271T>C (p.Phe1091Leu) c.3238T>C (p.Phe1080Leu) c.3325T>C (p.Phe1109Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38481618A>T | CA359533098 | LIFR | c.3271T>A (p.Phe1091Ile) c.3238T>A (p.Phe1080Ile) c.3325T>A (p.Phe1109Ile) | |
| 5 | g.38481619A>C | CA359533099 | LIFR | c.3270T>G (p.Phe1090Leu) c.3237T>G (p.Phe1079Leu) c.3324T>G (p.Phe1108Leu) | |
| 5 | g.38481619A>G | CA444098761 | LIFR | c.3270T>C (p.Phe1090=) c.3237T>C (p.Phe1079=) c.3324T>C (p.Phe1108=) | |
| 5 | g.38481619A>T | CA359533101 | LIFR | c.3270T>A (p.Phe1090Leu) c.3237T>A (p.Phe1079Leu) c.3324T>A (p.Phe1108Leu) | |
| 5 | g.38481620A= | CA1540248812 | LIFR | c.3269T= (p.Phe1090=) c.3236T= (p.Phe1079=) c.3323T= (p.Phe1108=) | |
| 5 | g.38481620A>C | CA3242476 | LIFR | c.3269T>G (p.Phe1090Cys) c.3236T>G (p.Phe1079Cys) c.3323T>G (p.Phe1108Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481620A>G | CA359533104 | LIFR | c.3269T>C (p.Phe1090Ser) c.3236T>C (p.Phe1079Ser) c.3323T>C (p.Phe1108Ser) | |
| 5 | g.38481620A>T | CA359533105 | LIFR | c.3269T>A (p.Phe1090Tyr) c.3236T>A (p.Phe1079Tyr) c.3323T>A (p.Phe1108Tyr) | |
| 5 | g.38481621A>C | CA359533107 | LIFR | c.3268T>G (p.Phe1090Val) c.3235T>G (p.Phe1079Val) c.3322T>G (p.Phe1108Val) | |
| 5 | g.38481621A>G | CA359533108 | LIFR | c.3268T>C (p.Phe1090Leu) c.3235T>C (p.Phe1079Leu) c.3322T>C (p.Phe1108Leu) | |
| 5 | g.38481621A>T | CA359533110 | LIFR | c.3268T>A (p.Phe1090Ile) c.3235T>A (p.Phe1079Ile) c.3322T>A (p.Phe1108Ile) | |
| 5 | g.38481621_38481622delinsAG | CA1540248814 | LIFR | c.3267_3268delinsCT (p.Asn1089=) c.3234_3235delinsCT (p.Asn1078=) c.3321_3322delinsCT (p.Asn1107=) | |
| 5 | g.38481622del | CA559296045 | LIFR | c.3267del (p.Gln1092ArgfsTer24) c.3234del (p.Gln1081ArgfsTer24) c.3321del (p.Gln1110ArgfsTer24) | dbSNP gnomAD v2 |
| 5 | g.38481622G>A | CA444098764 | LIFR | c.3267C>T (p.Asn1089=) c.3234C>T (p.Asn1078=) c.3321C>T (p.Asn1107=) | |
| 5 | g.38481622G>C | CA3242477 | LIFR | c.3267C>G (p.Asn1089Lys) c.3234C>G (p.Asn1078Lys) c.3321C>G (p.Asn1107Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481622G= | CA1540248819 | LIFR | c.3267C= (p.Asn1089=) c.3234C= (p.Asn1078=) c.3321C= (p.Asn1107=) | |
| 5 | g.38481622G>T | CA359533111 | LIFR | c.3267C>A (p.Asn1089Lys) c.3234C>A (p.Asn1078Lys) c.3321C>A (p.Asn1107Lys) | |
| 5 | g.38481623T>A | CA359533115 | LIFR | c.3266A>T (p.Asn1089Ile) c.3233A>T (p.Asn1078Ile) c.3320A>T (p.Asn1107Ile) | |
| 5 | g.38481623T>C | CA359533114 | LIFR | c.3266A>G (p.Asn1089Ser) c.3233A>G (p.Asn1078Ser) c.3320A>G (p.Asn1107Ser) | |
| 5 | g.38481623T>G | CA359533112 | LIFR | c.3266A>C (p.Asn1089Thr) c.3233A>C (p.Asn1078Thr) c.3320A>C (p.Asn1107Thr) | |
| 5 | g.38481624T>A | CA359533116 | LIFR | c.3265A>T (p.Asn1089Tyr) c.3232A>T (p.Asn1078Tyr) c.3319A>T (p.Asn1107Tyr) | gnomAD v4 |
| 5 | g.38481624T>C | CA3242478 | LIFR | c.3265A>G (p.Asn1089Asp) c.3232A>G (p.Asn1078Asp) c.3319A>G (p.Asn1107Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38481624T>G | CA359533118 | LIFR | c.3265A>C (p.Asn1089His) c.3232A>C (p.Asn1078His) c.3319A>C (p.Asn1107His) | COSMIC COSMIC |
| 5 | g.38481624T= | CA1540248823 | LIFR | c.3265A= (p.Asn1089=) c.3232A= (p.Asn1078=) c.3319A= (p.Asn1107=) | |
| 5 | g.38481625T>A | CA444098770 | LIFR | c.3264A>T (p.Thr1088=) c.3231A>T (p.Thr1077=) c.3318A>T (p.Thr1106=) | |
| 5 | g.38481625T>C | CA3242479 | LIFR | c.3264A>G (p.Thr1088=) c.3231A>G (p.Thr1077=) c.3318A>G (p.Thr1106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38481625T>G | CA444098772 | LIFR | c.3264A>C (p.Thr1088=) c.3231A>C (p.Thr1077=) c.3318A>C (p.Thr1106=) | |
| 5 | g.38481625T= | CA1540248825 | LIFR | c.3264A= (p.Thr1088=) c.3231A= (p.Thr1077=) c.3318A= (p.Thr1106=) | |
| 5 | g.38481626G>A | CA359533122 | LIFR | c.3263C>T (p.Thr1088Ile) c.3230C>T (p.Thr1077Ile) c.3317C>T (p.Thr1106Ile) | |
| 5 | g.38481626G>C | CA359533121 | LIFR | c.3263C>G (p.Thr1088Arg) c.3230C>G (p.Thr1077Arg) c.3317C>G (p.Thr1106Arg) | |
| 5 | g.38481626G>T | CA359533123 | LIFR | c.3263C>A (p.Thr1088Lys) c.3230C>A (p.Thr1077Lys) c.3317C>A (p.Thr1106Lys) | |
| 5 | g.38481627T>A | CA359533124 | LIFR | c.3262A>T (p.Thr1088Ser) c.3229A>T (p.Thr1077Ser) c.3316A>T (p.Thr1106Ser) | |
| 5 | g.38481627T>C | CA359533126 | LIFR | c.3262A>G (p.Thr1088Ala) c.3229A>G (p.Thr1077Ala) c.3316A>G (p.Thr1106Ala) | dbSNP |
| 5 | g.38481627T>G | CA359533125 | LIFR | c.3262A>C (p.Thr1088Pro) c.3229A>C (p.Thr1077Pro) c.3316A>C (p.Thr1106Pro) | |
| 5 | g.38481627T= | CA1540248829 | LIFR | c.3262A= (p.Thr1088=) c.3229A= (p.Thr1077=) c.3316A= (p.Thr1106=) | |
| 5 | g.38481628A= | CA1540248833 | LIFR | c.3261T= (p.Phe1087=) c.3228T= (p.Phe1076=) c.3315T= (p.Phe1105=) | |
| 5 | g.38481628A>C | CA359533127 | LIFR | c.3261T>G (p.Phe1087Leu) c.3228T>G (p.Phe1076Leu) c.3315T>G (p.Phe1105Leu) | |
| 5 | g.38481628A>G | CA444098779 | LIFR | c.3261T>C (p.Phe1087=) c.3228T>C (p.Phe1076=) c.3315T>C (p.Phe1105=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.38481628A>T | CA359533128 | LIFR | c.3261T>A (p.Phe1087Leu) c.3228T>A (p.Phe1076Leu) c.3315T>A (p.Phe1105Leu) | |
| 5 | g.38481629A= | CA1540248838 | LIFR | c.3260T= (p.Phe1087=) c.3227T= (p.Phe1076=) c.3314T= (p.Phe1105=) | |
| 5 | g.38481629A>C | CA359533129 | LIFR | c.3260T>G (p.Phe1087Cys) c.3227T>G (p.Phe1076Cys) c.3314T>G (p.Phe1105Cys) | |
| 5 | g.38481629A>G | CA359533130 | LIFR | c.3260T>C (p.Phe1087Ser) c.3227T>C (p.Phe1076Ser) c.3314T>C (p.Phe1105Ser) | dbSNP gnomAD v4 |
| 5 | g.38481629A>T | CA359533131 | LIFR | c.3260T>A (p.Phe1087Tyr) c.3227T>A (p.Phe1076Tyr) c.3314T>A (p.Phe1105Tyr) | |
| 5 | g.38481630A>C | CA359533132 | LIFR | c.3259T>G (p.Phe1087Val) c.3226T>G (p.Phe1076Val) c.3313T>G (p.Phe1105Val) | |
| 5 | g.38481630A>G | CA359533133 | LIFR | c.3259T>C (p.Phe1087Leu) c.3226T>C (p.Phe1076Leu) c.3313T>C (p.Phe1105Leu) | |
| 5 | g.38481630A>T | CA359533134 | LIFR | c.3259T>A (p.Phe1087Ile) c.3226T>A (p.Phe1076Ile) c.3313T>A (p.Phe1105Ile) | |
| 5 | g.38481631G>A | CA444098785 | LIFR | c.3258C>T (p.Ser1086=) c.3225C>T (p.Ser1075=) c.3312C>T (p.Ser1104=) | gnomAD v4 |
| 5 | g.38481631G>C | CA444098786 | LIFR | c.3258C>G (p.Ser1086=) c.3225C>G (p.Ser1075=) c.3312C>G (p.Ser1104=) | |
| 5 | g.38481631G>T | CA444098787 | LIFR | c.3258C>A (p.Ser1086=) c.3225C>A (p.Ser1075=) c.3312C>A (p.Ser1104=) | |
| 5 | g.38481632G>A | CA359533135 | LIFR | c.3257C>T (p.Ser1086Phe) c.3224C>T (p.Ser1075Phe) c.3311C>T (p.Ser1104Phe) | dbSNP |
| 5 | g.38481632G>C | CA359533136 | LIFR | c.3257C>G (p.Ser1086Cys) c.3224C>G (p.Ser1075Cys) c.3311C>G (p.Ser1104Cys) | |
| 5 | g.38481632G= | CA1540248839 | LIFR | c.3257C= (p.Ser1086=) c.3224C= (p.Ser1075=) c.3311C= (p.Ser1104=) | |
| 5 | g.38481632G>T | CA359533137 | LIFR | c.3257C>A (p.Ser1086Tyr) c.3224C>A (p.Ser1075Tyr) c.3311C>A (p.Ser1104Tyr) | |
| 5 | g.38481633A>C | CA359533138 | LIFR | c.3256T>G (p.Ser1086Ala) c.3223T>G (p.Ser1075Ala) c.3310T>G (p.Ser1104Ala) | |
| 5 | g.38481633A>G | CA359533139 | LIFR | c.3256T>C (p.Ser1086Pro) c.3223T>C (p.Ser1075Pro) c.3310T>C (p.Ser1104Pro) | |
| 5 | g.38481633A>T | CA359533140 | LIFR | c.3256T>A (p.Ser1086Thr) c.3223T>A (p.Ser1075Thr) c.3310T>A (p.Ser1104Thr) | |
| 5 | g.38481634C>A | CA359533143 | LIFR | c.3255G>T (p.Trp1085Cys) c.3222G>T (p.Trp1074Cys) c.3309G>T (p.Trp1103Cys) | gnomAD v4 |
| 5 | g.38481634C>G | CA359533142 | LIFR | c.3255G>C (p.Trp1085Cys) c.3222G>C (p.Trp1074Cys) c.3309G>C (p.Trp1103Cys) | |
| 5 | g.38481634C>T | CA359533141 | LIFR | c.3255G>A (p.Trp1085Ter) c.3222G>A (p.Trp1074Ter) c.3309G>A (p.Trp1103Ter) | gnomAD v4 |
| 5 | g.38481635C>A | CA359533144 | LIFR | c.3254G>T (p.Trp1085Leu) c.3221G>T (p.Trp1074Leu) c.3308G>T (p.Trp1103Leu) | |
| 5 | g.38481635C>G | CA359533145 | LIFR | c.3254G>C (p.Trp1085Ser) c.3221G>C (p.Trp1074Ser) c.3308G>C (p.Trp1103Ser) | |
| 5 | g.38481635C>T | CA359533146 | LIFR | c.3254G>A (p.Trp1085Ter) c.3221G>A (p.Trp1074Ter) c.3308G>A (p.Trp1103Ter) | ClinVar |
| 5 | g.38481636A>C | CA359533147 | LIFR | c.3253T>G (p.Trp1085Gly) c.3220T>G (p.Trp1074Gly) c.3307T>G (p.Trp1103Gly) | |
| 5 | g.38481636A>G | CA359533148 | LIFR | c.3253T>C (p.Trp1085Arg) c.3220T>C (p.Trp1074Arg) c.3307T>C (p.Trp1103Arg) | |
| 5 | g.38481636A>T | CA359533149 | LIFR | c.3253T>A (p.Trp1085Arg) c.3220T>A (p.Trp1074Arg) c.3307T>A (p.Trp1103Arg) | |
| 5 | g.38481636_38481640del | CA2708991289 | LIFR | c.3249_3253del (p.Gly1084ValfsTer26) c.3216_3220del (p.Gly1073ValfsTer26) c.3303_3307del (p.Gly1102ValfsTer26) | dbSNP |
| 5 | g.38481637C>A | CA444098790 | LIFR | c.3252G>T (p.Gly1084=) c.3219G>T (p.Gly1073=) c.3306G>T (p.Gly1102=) | |
| 5 | g.38481637C= | CA1540248843 | LIFR | c.3252G= (p.Gly1084=) c.3219G= (p.Gly1073=) c.3306G= (p.Gly1102=) | |
| 5 | g.38481637C>G | CA3242480 | LIFR | c.3252G>C (p.Gly1084=) c.3219G>C (p.Gly1073=) c.3306G>C (p.Gly1102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481637C>T | CA444098792 | LIFR | c.3252G>A (p.Gly1084=) c.3219G>A (p.Gly1073=) c.3306G>A (p.Gly1102=) | ClinVar dbSNP |
| 5 | g.38481638C>A | CA3242481 | LIFR | c.3251G>T (p.Gly1084Val) c.3218G>T (p.Gly1073Val) c.3305G>T (p.Gly1102Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38481638C= | CA1540248847 | LIFR | c.3251G= (p.Gly1084=) c.3218G= (p.Gly1073=) c.3305G= (p.Gly1102=) | |
| 5 | g.38481638C>G | CA359533150 | LIFR | c.3251G>C (p.Gly1084Ala) c.3218G>C (p.Gly1073Ala) c.3305G>C (p.Gly1102Ala) | |
| 5 | g.38481638C>T | CA359533151 | LIFR | c.3251G>A (p.Gly1084Glu) c.3218G>A (p.Gly1073Glu) c.3305G>A (p.Gly1102Glu) | COSMIC COSMIC |
| 5 | g.38481639C>A | CA359533152 | LIFR | c.3250G>T (p.Gly1084Trp) c.3217G>T (p.Gly1073Trp) c.3304G>T (p.Gly1102Trp) | gnomAD v4 |
| 5 | g.38481639C= | CA1540248851 | LIFR | c.3250G= (p.Gly1084=) c.3217G= (p.Gly1073=) c.3304G= (p.Gly1102=) | |
| 5 | g.38481639C>G | CA359533153 | LIFR | c.3250G>C (p.Gly1084Arg) c.3217G>C (p.Gly1073Arg) c.3304G>C (p.Gly1102Arg) | COSMIC COSMIC |
| 5 | g.38481639C>T | CA3242482 | LIFR | c.3250G>A (p.Gly1084Arg) c.3217G>A (p.Gly1073Arg) c.3304G>A (p.Gly1102Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.38481640T>A | CA444098795 | LIFR | c.3249A>T (p.Gly1083=) c.3216A>T (p.Gly1072=) c.3303A>T (p.Gly1101=) | |
| 5 | g.38481640T>C | CA444098796 | LIFR | c.3249A>G (p.Gly1083=) c.3216A>G (p.Gly1072=) c.3303A>G (p.Gly1101=) | |
| 5 | g.38481640T>G | CA444098800 | LIFR | c.3249A>C (p.Gly1083=) c.3216A>C (p.Gly1072=) c.3303A>C (p.Gly1101=) | |
| 5 | g.38481641C>A | CA359533155 | LIFR | c.3248G>T (p.Gly1083Val) c.3215G>T (p.Gly1072Val) c.3302G>T (p.Gly1101Val) | |
| 5 | g.38481641C>G | CA359533156 | LIFR | c.3248G>C (p.Gly1083Ala) c.3215G>C (p.Gly1072Ala) c.3302G>C (p.Gly1101Ala) | |
| 5 | g.38481641C>T | CA359533154 | LIFR | c.3248G>A (p.Gly1083Glu) c.3215G>A (p.Gly1072Glu) c.3302G>A (p.Gly1101Glu) | gnomAD v4 COSMIC COSMIC |
| 5 | g.38481642C>A | CA359533157 | LIFR | c.3247G>T (p.Gly1083Ter) c.3214G>T (p.Gly1072Ter) c.3301G>T (p.Gly1101Ter) | |
| 5 | g.38481642C>G | CA359533158 | LIFR | c.3247G>C (p.Gly1083Arg) c.3214G>C (p.Gly1072Arg) c.3301G>C (p.Gly1101Arg) | |
| 5 | g.38481642C>T | CA359533159 | LIFR | c.3247G>A (p.Gly1083Arg) c.3214G>A (p.Gly1072Arg) c.3301G>A (p.Gly1101Arg) | |
| 5 | g.38481643T>A | CA444098806 | LIFR | c.3246A>T (p.Gly1082=) c.3213A>T (p.Gly1071=) c.3300A>T (p.Gly1100=) | ClinVar |
| 5 | g.38481643T>C | CA444098804 | LIFR | c.3246A>G (p.Gly1082=) c.3213A>G (p.Gly1071=) c.3300A>G (p.Gly1100=) | |
| 5 | g.38481643T>G | CA444098805 | LIFR | c.3246A>C (p.Gly1082=) c.3213A>C (p.Gly1071=) c.3300A>C (p.Gly1100=) | ClinVar |
| 5 | g.38481644C>A | CA359533160 | LIFR | c.3245G>T (p.Gly1082Val) c.3212G>T (p.Gly1071Val) c.3299G>T (p.Gly1100Val) | |
| 5 | g.38481644C= | CA1540248856 | LIFR | c.3245G= (p.Gly1082=) c.3212G= (p.Gly1071=) c.3299G= (p.Gly1100=) | |
| 5 | g.38481644C>G | CA359533161 | LIFR | c.3245G>C (p.Gly1082Ala) c.3212G>C (p.Gly1071Ala) c.3299G>C (p.Gly1100Ala) | |
| 5 | g.38481644C>T | CA3242483 | LIFR | c.3245G>A (p.Gly1082Glu) c.3212G>A (p.Gly1071Glu) c.3299G>A (p.Gly1100Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.38481645C>A | CA359533162 | LIFR | c.3244G>T (p.Gly1082Ter) c.3211G>T (p.Gly1071Ter) c.3298G>T (p.Gly1100Ter) | |
| 5 | g.38481645C>G | CA359533163 | LIFR | c.3244G>C (p.Gly1082Arg) c.3211G>C (p.Gly1071Arg) c.3298G>C (p.Gly1100Arg) | |
| 5 | g.38481645C>T | CA359533164 | LIFR | c.3244G>A (p.Gly1082Arg) c.3211G>A (p.Gly1071Arg) c.3298G>A (p.Gly1100Arg) | |
| 5 | g.38481646A>C | CA359533165 | LIFR | c.3243T>G (p.Asn1081Lys) c.3210T>G (p.Asn1070Lys) c.3297T>G (p.Asn1099Lys) | |
| 5 | g.38481646A>G | CA444098809 | LIFR | c.3243T>C (p.Asn1081=) c.3210T>C (p.Asn1070=) c.3297T>C (p.Asn1099=) | ClinVar gnomAD v4 |
| 5 | g.38481646A>T | CA359533166 | LIFR | c.3243T>A (p.Asn1081Lys) c.3210T>A (p.Asn1070Lys) c.3297T>A (p.Asn1099Lys) | |
| 5 | g.38481647T>A | CA359533169 | LIFR | c.3242A>T (p.Asn1081Ile) c.3209A>T (p.Asn1070Ile) c.3296A>T (p.Asn1099Ile) | |
| 5 | g.38481647T>C | CA359533167 | LIFR | c.3242A>G (p.Asn1081Ser) c.3209A>G (p.Asn1070Ser) c.3296A>G (p.Asn1099Ser) | gnomAD v4 |
| 5 | g.38481647T>G | CA359533168 | LIFR | c.3242A>C (p.Asn1081Thr) c.3209A>C (p.Asn1070Thr) c.3296A>C (p.Asn1099Thr) | |
| 5 | g.38481648T>A | CA359533170 | LIFR | c.3241A>T (p.Asn1081Tyr) c.3208A>T (p.Asn1070Tyr) c.3295A>T (p.Asn1099Tyr) | |
| 5 | g.38481648T>C | CA359533171 | LIFR | c.3241A>G (p.Asn1081Asp) c.3208A>G (p.Asn1070Asp) c.3295A>G (p.Asn1099Asp) | |
| 5 | g.38481648T>G | CA359533172 | LIFR | c.3241A>C (p.Asn1081His) c.3208A>C (p.Asn1070His) c.3295A>C (p.Asn1099His) | |
| 5 | g.38481649A>C | CA444098813 | LIFR | c.3240T>G (p.Ser1080=) c.3207T>G (p.Ser1069=) c.3294T>G (p.Ser1098=) | |
| 5 | g.38481649A>G | CA444098811 | LIFR | c.3240T>C (p.Ser1080=) c.3207T>C (p.Ser1069=) c.3294T>C (p.Ser1098=) | ClinVar |
| 5 | g.38481649A>T | CA444098812 | LIFR | c.3240T>A (p.Ser1080=) c.3207T>A (p.Ser1069=) c.3294T>A (p.Ser1098=) | |
| 5 | g.38481650G>A | CA359533173 | LIFR | c.3239C>T (p.Ser1080Phe) c.3206C>T (p.Ser1069Phe) c.3293C>T (p.Ser1098Phe) | |
| 5 | g.38481650G>C | CA359533174 | LIFR | c.3239C>G (p.Ser1080Cys) c.3206C>G (p.Ser1069Cys) c.3293C>G (p.Ser1098Cys) | |
| 5 | g.38481650G= | CA1540248858 | LIFR | c.3239C= (p.Ser1080=) c.3206C= (p.Ser1069=) c.3293C= (p.Ser1098=) | |
| 5 | g.38481650G>T | CA117133934 | LIFR | c.3239C>A (p.Ser1080Tyr) c.3206C>A (p.Ser1069Tyr) c.3293C>A (p.Ser1098Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481651A>C | CA359533175 | LIFR | c.3238T>G (p.Ser1080Ala) c.3205T>G (p.Ser1069Ala) c.3292T>G (p.Ser1098Ala) | |
| 5 | g.38481651A>G | CA359533176 | LIFR | c.3238T>C (p.Ser1080Pro) c.3205T>C (p.Ser1069Pro) c.3292T>C (p.Ser1098Pro) | gnomAD v4 |
| 5 | g.38481651A>T | CA359533177 | LIFR | c.3238T>A (p.Ser1080Thr) c.3205T>A (p.Ser1069Thr) c.3292T>A (p.Ser1098Thr) | |
| 5 | g.38481652T>A | CA359533178 | LIFR | c.3237A>T (p.Lys1079Asn) c.3204A>T (p.Lys1068Asn) c.3291A>T (p.Lys1097Asn) | |
| 5 | g.38481652T>C | CA444098819 | LIFR | c.3237A>G (p.Lys1079=) c.3204A>G (p.Lys1068=) c.3291A>G (p.Lys1097=) | dbSNP |
| 5 | g.38481652T>G | CA359533179 | LIFR | c.3237A>C (p.Lys1079Asn) c.3204A>C (p.Lys1068Asn) c.3291A>C (p.Lys1097Asn) | |
| 5 | g.38481652T= | CA1540248861 | LIFR | c.3237A= (p.Lys1079=) c.3204A= (p.Lys1068=) c.3291A= (p.Lys1097=) | |
| 5 | g.38481653T>A | CA359533181 | LIFR | c.3236A>T (p.Lys1079Ile) c.3203A>T (p.Lys1068Ile) c.3290A>T (p.Lys1097Ile) | |
| 5 | g.38481653T>C | CA359533182 | LIFR | c.3236A>G (p.Lys1079Arg) c.3203A>G (p.Lys1068Arg) c.3290A>G (p.Lys1097Arg) | |
| 5 | g.38481653T>G | CA359533180 | LIFR | c.3236A>C (p.Lys1079Thr) c.3203A>C (p.Lys1068Thr) c.3290A>C (p.Lys1097Thr) | |
| 5 | g.38481654T>A | CA359533183 | LIFR | c.3235A>T (p.Lys1079Ter) c.3202A>T (p.Lys1068Ter) c.3289A>T (p.Lys1097Ter) | |
| 5 | g.38481654T>C | CA359533184 | LIFR | c.3235A>G (p.Lys1079Glu) c.3202A>G (p.Lys1068Glu) c.3289A>G (p.Lys1097Glu) | gnomAD v4 |
| 5 | g.38481654T>G | CA359533185 | LIFR | c.3235A>C (p.Lys1079Gln) c.3202A>C (p.Lys1068Gln) c.3289A>C (p.Lys1097Gln) | |
| 5 | g.38481655A>C | CA444098825 | LIFR | c.3234T>G (p.Pro1078=) c.3201T>G (p.Pro1067=) c.3288T>G (p.Pro1096=) | |
| 5 | g.38481655A>G | CA444098827 | LIFR | c.3234T>C (p.Pro1078=) c.3201T>C (p.Pro1067=) c.3288T>C (p.Pro1096=) | ClinVar |
| 5 | g.38481655A>T | CA444098829 | LIFR | c.3234T>A (p.Pro1078=) c.3201T>A (p.Pro1067=) c.3288T>A (p.Pro1096=) | gnomAD v4 |
| 5 | g.38481656G>A | CA359533186 | LIFR | c.3233C>T (p.Pro1078Leu) c.3200C>T (p.Pro1067Leu) c.3287C>T (p.Pro1096Leu) | |
| 5 | g.38481656G>C | CA359533187 | LIFR | c.3233C>G (p.Pro1078Arg) c.3200C>G (p.Pro1067Arg) c.3287C>G (p.Pro1096Arg) | gnomAD v4 |
| 5 | g.38481656G= | CA1540248865 | LIFR | c.3233C= (p.Pro1078=) c.3200C= (p.Pro1067=) c.3287C= (p.Pro1096=) | |
| 5 | g.38481656G>T | CA359533188 | LIFR | c.3233C>A (p.Pro1078His) c.3200C>A (p.Pro1067His) c.3287C>A (p.Pro1096His) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38481656_38481658delinsGGA | CA1540248863 | LIFR | c.3231_3233delinsTCC (p.Ser1077=) c.3198_3200delinsTCC (p.Ser1066=) c.3285_3287delinsTCC (p.Ser1095=) | |
| 5 | g.38481657G>A | CA359533189 | LIFR | c.3232C>T (p.Pro1078Ser) c.3199C>T (p.Pro1067Ser) c.3286C>T (p.Pro1096Ser) | |
| 5 | g.38481657G>C | CA359533191 | LIFR | c.3232C>G (p.Pro1078Ala) c.3199C>G (p.Pro1067Ala) c.3286C>G (p.Pro1096Ala) | |
| 5 | g.38481657G>T | CA359533190 | LIFR | c.3232C>A (p.Pro1078Thr) c.3199C>A (p.Pro1067Thr) c.3286C>A (p.Pro1096Thr) | |
| 5 | g.38481660_38481661del | CA3242484 | LIFR | c.3231_3232del (p.Pro1078Ter) c.3198_3199del (p.Pro1067Ter) c.3285_3286del (p.Pro1096Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481658A= | CA1540248870 | LIFR | c.3231T= (p.Ser1077=) c.3198T= (p.Ser1066=) c.3285T= (p.Ser1095=) | |
| 5 | g.38481658A>C | CA444098836 | LIFR | c.3231T>G (p.Ser1077=) c.3198T>G (p.Ser1066=) c.3285T>G (p.Ser1095=) | |
| 5 | g.38481658A>G | CA444098838 | LIFR | c.3231T>C (p.Ser1077=) c.3198T>C (p.Ser1066=) c.3285T>C (p.Ser1095=) | dbSNP gnomAD v2 |
| 5 | g.38481658A>T | CA444098834 | LIFR | c.3231T>A (p.Ser1077=) c.3198T>A (p.Ser1066=) c.3285T>A (p.Ser1095=) | ClinVar |
| 5 | g.38481659G>A | CA359533192 | LIFR | c.3230C>T (p.Ser1077Phe) c.3197C>T (p.Ser1066Phe) c.3284C>T (p.Ser1095Phe) | |
| 5 | g.38481659G>C | CA359533193 | LIFR | c.3230C>G (p.Ser1077Cys) c.3197C>G (p.Ser1066Cys) c.3284C>G (p.Ser1095Cys) | |
| 5 | g.38481659G>T | CA359533194 | LIFR | c.3230C>A (p.Ser1077Tyr) c.3197C>A (p.Ser1066Tyr) c.3284C>A (p.Ser1095Tyr) | |
| 5 | g.38481660A>C | CA359533197 | LIFR | c.3229T>G (p.Ser1077Ala) c.3196T>G (p.Ser1066Ala) c.3283T>G (p.Ser1095Ala) | |
| 5 | g.38481660A>G | CA359533195 | LIFR | c.3229T>C (p.Ser1077Pro) c.3196T>C (p.Ser1066Pro) c.3283T>C (p.Ser1095Pro) | |
| 5 | g.38481660A>T | CA359533196 | LIFR | c.3229T>A (p.Ser1077Thr) c.3196T>A (p.Ser1066Thr) c.3283T>A (p.Ser1095Thr) | |
| 5 | g.38481661G>A | CA444098846 | LIFR | c.3228C>T (p.Asp1076=) c.3195C>T (p.Asp1065=) c.3282C>T (p.Asp1094=) | |
| 5 | g.38481661G>C | CA359533198 | LIFR | c.3228C>G (p.Asp1076Glu) c.3195C>G (p.Asp1065Glu) c.3282C>G (p.Asp1094Glu) | gnomAD v4 |
| 5 | g.38481661G= | CA1540248872 | LIFR | c.3228C= (p.Asp1076=) c.3195C= (p.Asp1065=) c.3282C= (p.Asp1094=) | |
| 5 | g.38481661G>T | CA359533199 | LIFR | c.3228C>A (p.Asp1076Glu) c.3195C>A (p.Asp1065Glu) c.3282C>A (p.Asp1094Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38481662T>A | CA359533200 | LIFR | c.3227A>T (p.Asp1076Val) c.3194A>T (p.Asp1065Val) c.3281A>T (p.Asp1094Val) | |
| 5 | g.38481662T>C | CA359533201 | LIFR | c.3227A>G (p.Asp1076Gly) c.3194A>G (p.Asp1065Gly) c.3281A>G (p.Asp1094Gly) | gnomAD v4 |
| 5 | g.38481662T>G | CA359533202 | LIFR | c.3227A>C (p.Asp1076Ala) c.3194A>C (p.Asp1065Ala) c.3281A>C (p.Asp1094Ala) | |
| 5 | g.38481663C>A | CA359533203 | LIFR | c.3226G>T (p.Asp1076Tyr) c.3193G>T (p.Asp1065Tyr) c.3280G>T (p.Asp1094Tyr) | |
| 5 | g.38481663C>G | CA359533204 | LIFR | c.3226G>C (p.Asp1076His) c.3193G>C (p.Asp1065His) c.3280G>C (p.Asp1094His) | |
| 5 | g.38481663C>T | CA359533205 | LIFR | c.3226G>A (p.Asp1076Asn) c.3193G>A (p.Asp1065Asn) c.3280G>A (p.Asp1094Asn) | |
| 5 | g.38481664T>A | CA359533206 | LIFR | c.3225A>T (p.Glu1075Asp) c.3192A>T (p.Glu1064Asp) c.3279A>T (p.Glu1093Asp) | |
| 5 | g.38481664T>C | CA444098863 | LIFR | c.3225A>G (p.Glu1075=) c.3192A>G (p.Glu1064=) c.3279A>G (p.Glu1093=) | |
| 5 | g.38481664T>G | CA359533207 | LIFR | c.3225A>C (p.Glu1075Asp) c.3192A>C (p.Glu1064Asp) c.3279A>C (p.Glu1093Asp) | |
| 5 | g.38481665T>A | CA359533208 | LIFR | c.3224A>T (p.Glu1075Val) c.3191A>T (p.Glu1064Val) c.3278A>T (p.Glu1093Val) | |
| 5 | g.38481665T>C | CA359533209 | LIFR | c.3224A>G (p.Glu1075Gly) c.3191A>G (p.Glu1064Gly) c.3278A>G (p.Glu1093Gly) | |
| 5 | g.38481665T>G | CA359533210 | LIFR | c.3224A>C (p.Glu1075Ala) c.3191A>C (p.Glu1064Ala) c.3278A>C (p.Glu1093Ala) | |
| 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=) |