Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
5 | g.38481767G>A | CA3242501 | LIFR | c.3122C>T (p.Ser1041Phe) c.3089C>T (p.Ser1030Phe) c.3176C>T (p.Ser1059Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481767G>C | CA359533433 | LIFR | c.3122C>G (p.Ser1041Cys) c.3089C>G (p.Ser1030Cys) c.3176C>G (p.Ser1059Cys) | |
5 | g.38481767G= | CA1540249043 | LIFR | c.3122C= (p.Ser1041=) c.3089C= (p.Ser1030=) c.3176C= (p.Ser1059=) | |
5 | g.38481767G>T | CA359533434 | LIFR | c.3122C>A (p.Ser1041Tyr) c.3089C>A (p.Ser1030Tyr) c.3176C>A (p.Ser1059Tyr) | |
5 | g.38481768A>C | CA359533435 | LIFR | c.3121T>G (p.Ser1041Ala) c.3088T>G (p.Ser1030Ala) c.3175T>G (p.Ser1059Ala) | |
5 | g.38481768A>G | CA359533436 | LIFR | c.3121T>C (p.Ser1041Pro) c.3088T>C (p.Ser1030Pro) c.3175T>C (p.Ser1059Pro) | |
5 | g.38481768A>T | CA359533437 | LIFR | c.3121T>A (p.Ser1041Thr) c.3088T>A (p.Ser1030Thr) c.3175T>A (p.Ser1059Thr) | |
5 | g.38481769C>A | CA444099283 | LIFR | c.3120G>T (p.Val1040=) c.3087G>T (p.Val1029=) c.3174G>T (p.Val1058=) | |
5 | g.38481769C>G | CA444099285 | LIFR | c.3120G>C (p.Val1040=) c.3087G>C (p.Val1029=) c.3174G>C (p.Val1058=) | |
5 | g.38481769C>T | CA444099296 | LIFR | c.3120G>A (p.Val1040=) c.3087G>A (p.Val1029=) c.3174G>A (p.Val1058=) | |
5 | g.38481770A>C | CA359533438 | LIFR | c.3119T>G (p.Val1040Gly) c.3086T>G (p.Val1029Gly) c.3173T>G (p.Val1058Gly) | |
5 | g.38481770A>G | CA359533439 | LIFR | c.3119T>C (p.Val1040Ala) c.3086T>C (p.Val1029Ala) c.3173T>C (p.Val1058Ala) | |
5 | g.38481770A>T | CA359533440 | LIFR | c.3119T>A (p.Val1040Glu) c.3086T>A (p.Val1029Glu) c.3173T>A (p.Val1058Glu) | COSMIC COSMIC |
5 | g.38481771C>A | CA359533441 | LIFR | c.3118G>T (p.Val1040Leu) c.3085G>T (p.Val1029Leu) c.3172G>T (p.Val1058Leu) | |
5 | g.38481771C>G | CA359533442 | LIFR | c.3118G>C (p.Val1040Leu) c.3085G>C (p.Val1029Leu) c.3172G>C (p.Val1058Leu) | |
5 | g.38481771C>T | CA359533443 | LIFR | c.3118G>A (p.Val1040Met) c.3085G>A (p.Val1029Met) c.3172G>A (p.Val1058Met) | gnomAD v4 |
5 | g.38481772T>A | CA359533445 | LIFR | c.3117A>T (p.Leu1039Phe) c.3084A>T (p.Leu1028Phe) c.3171A>T (p.Leu1057Phe) | |
5 | g.38481772T>C | CA444099309 | LIFR | c.3117A>G (p.Leu1039=) c.3084A>G (p.Leu1028=) c.3171A>G (p.Leu1057=) | |
5 | g.38481772T>G | CA359533444 | LIFR | c.3117A>C (p.Leu1039Phe) c.3084A>C (p.Leu1028Phe) c.3171A>C (p.Leu1057Phe) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481772T= | CA1540249046 | LIFR | c.3117A= (p.Leu1039=) c.3084A= (p.Leu1028=) c.3171A= (p.Leu1057=) | |
5 | g.38481773A>C | CA359533446 | LIFR | c.3116T>G (p.Leu1039Ter) c.3083T>G (p.Leu1028Ter) c.3170T>G (p.Leu1057Ter) | |
5 | g.38481773A>G | CA359533447 | LIFR | c.3116T>C (p.Leu1039Ser) c.3083T>C (p.Leu1028Ser) c.3170T>C (p.Leu1057Ser) | |
5 | g.38481773A>T | CA359533448 | LIFR | c.3116T>A (p.Leu1039Ter) c.3083T>A (p.Leu1028Ter) c.3170T>A (p.Leu1057Ter) | |
5 | g.38481774A>C | CA359533449 | LIFR | c.3115T>G (p.Leu1039Val) c.3082T>G (p.Leu1028Val) c.3169T>G (p.Leu1057Val) | |
5 | g.38481774A>G | CA444099318 | LIFR | c.3115T>C (p.Leu1039=) c.3082T>C (p.Leu1028=) c.3169T>C (p.Leu1057=) | |
5 | g.38481774A>T | CA359533450 | LIFR | c.3115T>A (p.Leu1039Ile) c.3082T>A (p.Leu1028Ile) c.3169T>A (p.Leu1057Ile) | |
5 | g.38481775A>C | CA359533451 | LIFR | c.3114T>G (p.Asn1038Lys) c.3081T>G (p.Asn1027Lys) c.3168T>G (p.Asn1056Lys) | |
5 | g.38481775A>G | CA444099319 | LIFR | c.3114T>C (p.Asn1038=) c.3081T>C (p.Asn1027=) c.3168T>C (p.Asn1056=) | ClinVar dbSNP gnomAD v4 |
5 | g.38481775A>T | CA359533452 | LIFR | c.3114T>A (p.Asn1038Lys) c.3081T>A (p.Asn1027Lys) c.3168T>A (p.Asn1056Lys) | |
5 | g.38481776T>A | CA359533453 | LIFR | c.3113A>T (p.Asn1038Ile) c.3080A>T (p.Asn1027Ile) c.3167A>T (p.Asn1056Ile) | |
5 | g.38481776T>C | CA359533454 | LIFR | c.3113A>G (p.Asn1038Ser) c.3080A>G (p.Asn1027Ser) c.3167A>G (p.Asn1056Ser) | |
5 | g.38481776T>G | CA359533455 | LIFR | c.3113A>C (p.Asn1038Thr) c.3080A>C (p.Asn1027Thr) c.3167A>C (p.Asn1056Thr) | |
5 | g.38481777T>A | CA359533456 | LIFR | c.3112A>T (p.Asn1038Tyr) c.3079A>T (p.Asn1027Tyr) c.3166A>T (p.Asn1056Tyr) | |
5 | g.38481777T>C | CA359533457 | LIFR | c.3112A>G (p.Asn1038Asp) c.3079A>G (p.Asn1027Asp) c.3166A>G (p.Asn1056Asp) | dbSNP |
5 | g.38481777T>G | CA359533458 | LIFR | c.3112A>C (p.Asn1038His) c.3079A>C (p.Asn1027His) c.3166A>C (p.Asn1056His) | |
5 | g.38481777T= | CA1540249050 | LIFR | c.3112A= (p.Asn1038=) c.3079A= (p.Asn1027=) c.3166A= (p.Asn1056=) | |
5 | g.38481778C>A | CA359533461 | LIFR | c.3111G>T (p.Trp1037Cys) c.3078G>T (p.Trp1026Cys) c.3165G>T (p.Trp1055Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481778C= | CA1540249052 | LIFR | c.3111G= (p.Trp1037=) c.3078G= (p.Trp1026=) c.3165G= (p.Trp1055=) | |
5 | g.38481778C>G | CA359533459 | LIFR | c.3111G>C (p.Trp1037Cys) c.3078G>C (p.Trp1026Cys) c.3165G>C (p.Trp1055Cys) | |
5 | g.38481778C>T | CA359533460 | LIFR | c.3111G>A (p.Trp1037Ter) c.3078G>A (p.Trp1026Ter) c.3165G>A (p.Trp1055Ter) | |
5 | g.38481779C>A | CA359533462 | LIFR | c.3110G>T (p.Trp1037Leu) c.3077G>T (p.Trp1026Leu) c.3164G>T (p.Trp1055Leu) | |
5 | g.38481779C>G | CA359533463 | LIFR | c.3110G>C (p.Trp1037Ser) c.3077G>C (p.Trp1026Ser) c.3164G>C (p.Trp1055Ser) | |
5 | g.38481779C>T | CA359533464 | LIFR | c.3110G>A (p.Trp1037Ter) c.3077G>A (p.Trp1026Ter) c.3164G>A (p.Trp1055Ter) | |
5 | g.38481780A= | CA1540249055 | LIFR | c.3109T= (p.Trp1037=) c.3076T= (p.Trp1026=) c.3163T= (p.Trp1055=) | |
5 | g.38481780A>C | CA3242502 | LIFR | c.3109T>G (p.Trp1037Gly) c.3076T>G (p.Trp1026Gly) c.3163T>G (p.Trp1055Gly) | dbSNP ExAC gnomAD v2 |
5 | g.38481780A>G | CA359533465 | LIFR | c.3109T>C (p.Trp1037Arg) c.3076T>C (p.Trp1026Arg) c.3163T>C (p.Trp1055Arg) | dbSNP gnomAD v2 |
5 | g.38481780A>T | CA359533466 | LIFR | c.3109T>A (p.Trp1037Arg) c.3076T>A (p.Trp1026Arg) c.3163T>A (p.Trp1055Arg) | |
5 | g.38481781T>A | CA444099334 | LIFR | c.3108A>T (p.Thr1036=) c.3075A>T (p.Thr1025=) c.3162A>T (p.Thr1054=) | ClinVar gnomAD v4 |
5 | g.38481781T>C | CA3242503 | LIFR | c.3108A>G (p.Thr1036=) c.3075A>G (p.Thr1025=) c.3162A>G (p.Thr1054=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481781T>G | CA444099336 | LIFR | c.3108A>C (p.Thr1036=) c.3075A>C (p.Thr1025=) c.3162A>C (p.Thr1054=) | |
5 | g.38481781T= | CA1540249057 | LIFR | c.3108A= (p.Thr1036=) c.3075A= (p.Thr1025=) c.3162A= (p.Thr1054=) | |
5 | g.38481782G>A | CA359533467 | LIFR | c.3107C>T (p.Thr1036Ile) c.3074C>T (p.Thr1025Ile) c.3161C>T (p.Thr1054Ile) | |
5 | g.38481782G>C | CA359533468 | LIFR | c.3107C>G (p.Thr1036Arg) c.3074C>G (p.Thr1025Arg) c.3161C>G (p.Thr1054Arg) | |
5 | g.38481782G>T | CA359533469 | LIFR | c.3107C>A (p.Thr1036Lys) c.3074C>A (p.Thr1025Lys) c.3161C>A (p.Thr1054Lys) | |
5 | g.38481783T>A | CA359533470 | LIFR | c.3106A>T (p.Thr1036Ser) c.3073A>T (p.Thr1025Ser) c.3160A>T (p.Thr1054Ser) | |
5 | g.38481783T>C | CA359533471 | LIFR | c.3106A>G (p.Thr1036Ala) c.3073A>G (p.Thr1025Ala) c.3160A>G (p.Thr1054Ala) | |
5 | g.38481783T>G | CA359533472 | LIFR | c.3106A>C (p.Thr1036Pro) c.3073A>C (p.Thr1025Pro) c.3160A>C (p.Thr1054Pro) | |
5 | g.38481784A= | CA1540249060 | LIFR | c.3105T= (p.Asn1035=) c.3072T= (p.Asn1024=) c.3159T= (p.Asn1053=) | |
5 | g.38481784A>C | CA359533474 | LIFR | c.3105T>G (p.Asn1035Lys) c.3072T>G (p.Asn1024Lys) c.3159T>G (p.Asn1053Lys) | |
5 | g.38481784A>G | CA444099338 | LIFR | c.3105T>C (p.Asn1035=) c.3072T>C (p.Asn1024=) c.3159T>C (p.Asn1053=) | ClinVar dbSNP |
5 | g.38481784A>T | CA359533473 | LIFR | c.3105T>A (p.Asn1035Lys) c.3072T>A (p.Asn1024Lys) c.3159T>A (p.Asn1053Lys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481785T>A | CA359533475 | LIFR | c.3104A>T (p.Asn1035Ile) c.3071A>T (p.Asn1024Ile) c.3158A>T (p.Asn1053Ile) | |
5 | g.38481785T>C | CA359533477 | LIFR | c.3104A>G (p.Asn1035Ser) c.3071A>G (p.Asn1024Ser) c.3158A>G (p.Asn1053Ser) | |
5 | g.38481785T>G | CA359533476 | LIFR | c.3104A>C (p.Asn1035Thr) c.3071A>C (p.Asn1024Thr) c.3158A>C (p.Asn1053Thr) | |
5 | g.38481786T>A | CA359533478 | LIFR | c.3103A>T (p.Asn1035Tyr) c.3070A>T (p.Asn1024Tyr) c.3157A>T (p.Asn1053Tyr) | |
5 | g.38481786T>C | CA359533479 | LIFR | c.3103A>G (p.Asn1035Asp) c.3070A>G (p.Asn1024Asp) c.3157A>G (p.Asn1053Asp) | |
5 | g.38481786T>G | CA359533480 | LIFR | c.3103A>C (p.Asn1035His) c.3070A>C (p.Asn1024His) c.3157A>C (p.Asn1053His) | |
5 | g.38481787T>A | CA444099341 | LIFR | c.3102A>T (p.Val1034=) c.3069A>T (p.Val1023=) c.3156A>T (p.Val1052=) | |
5 | g.38481787T>C | CA3242504 | LIFR | c.3102A>G (p.Val1034=) c.3069A>G (p.Val1023=) c.3156A>G (p.Val1052=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481787T>G | CA444099342 | LIFR | c.3102A>C (p.Val1034=) c.3069A>C (p.Val1023=) c.3156A>C (p.Val1052=) | |
5 | g.38481787T= | CA1540249062 | LIFR | c.3102A= (p.Val1034=) c.3069A= (p.Val1023=) c.3156A= (p.Val1052=) | |
5 | g.38481788A>C | CA359533481 | LIFR | c.3101T>G (p.Val1034Gly) c.3068T>G (p.Val1023Gly) c.3155T>G (p.Val1052Gly) | |
5 | g.38481788A>G | CA359533482 | LIFR | c.3101T>C (p.Val1034Ala) c.3068T>C (p.Val1023Ala) c.3155T>C (p.Val1052Ala) | |
5 | g.38481788A>T | CA359533483 | LIFR | c.3101T>A (p.Val1034Glu) c.3068T>A (p.Val1023Glu) c.3155T>A (p.Val1052Glu) | gnomAD v4 |
5 | g.38481789C>A | CA359533486 | LIFR | c.3100G>T (p.Val1034Leu) c.3067G>T (p.Val1023Leu) c.3154G>T (p.Val1052Leu) | |
5 | g.38481789C>G | CA359533484 | LIFR | c.3100G>C (p.Val1034Leu) c.3067G>C (p.Val1023Leu) c.3154G>C (p.Val1052Leu) | |
5 | g.38481789C>T | CA359533485 | LIFR | c.3100G>A (p.Val1034Ile) c.3067G>A (p.Val1023Ile) c.3154G>A (p.Val1052Ile) | |
5 | g.38481790A= | CA1540249065 | LIFR | c.3099T= (p.Asn1033=) c.3066T= (p.Asn1022=) c.3153T= (p.Asn1051=) | |
5 | g.38481790A>C | CA3242505 | LIFR | c.3099T>G (p.Asn1033Lys) c.3066T>G (p.Asn1022Lys) c.3153T>G (p.Asn1051Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481790A>G | CA444099347 | LIFR | c.3099T>C (p.Asn1033=) c.3066T>C (p.Asn1022=) c.3153T>C (p.Asn1051=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481790A>T | CA359533487 | LIFR | c.3099T>A (p.Asn1033Lys) c.3066T>A (p.Asn1022Lys) c.3153T>A (p.Asn1051Lys) | |
5 | g.38481791T>A | CA359533488 | LIFR | c.3098A>T (p.Asn1033Ile) c.3065A>T (p.Asn1022Ile) c.3152A>T (p.Asn1051Ile) | |
5 | g.38481791T>C | CA359533489 | LIFR | c.3098A>G (p.Asn1033Ser) c.3065A>G (p.Asn1022Ser) c.3152A>G (p.Asn1051Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481791T>G | CA359533490 | LIFR | c.3098A>C (p.Asn1033Thr) c.3065A>C (p.Asn1022Thr) c.3152A>C (p.Asn1051Thr) | |
5 | g.38481791T= | CA1540249069 | LIFR | c.3098A= (p.Asn1033=) c.3065A= (p.Asn1022=) c.3152A= (p.Asn1051=) | |
5 | g.38481792T>A | CA359533491 | LIFR | c.3097A>T (p.Asn1033Tyr) c.3064A>T (p.Asn1022Tyr) c.3151A>T (p.Asn1051Tyr) | |
5 | g.38481792T>C | CA359533493 | LIFR | c.3097A>G (p.Asn1033Asp) c.3064A>G (p.Asn1022Asp) c.3151A>G (p.Asn1051Asp) | |
5 | g.38481792T>G | CA359533492 | LIFR | c.3097A>C (p.Asn1033His) c.3064A>C (p.Asn1022His) c.3151A>C (p.Asn1051His) | dbSNP gnomAD v4 |
5 | g.38481792T= | CA1540249072 | LIFR | c.3097A= (p.Asn1033=) c.3064A= (p.Asn1022=) c.3151A= (p.Asn1051=) | |
5 | g.38481793G>A | CA444099359 | LIFR | c.3096C>T (p.Ala1032=) c.3063C>T (p.Ala1021=) c.3150C>T (p.Ala1050=) | gnomAD v4 |
5 | g.38481793G>C | CA444099357 | LIFR | c.3096C>G (p.Ala1032=) c.3063C>G (p.Ala1021=) c.3150C>G (p.Ala1050=) | |
5 | g.38481793G>T | CA444099356 | LIFR | c.3096C>A (p.Ala1032=) c.3063C>A (p.Ala1021=) c.3150C>A (p.Ala1050=) | |
5 | g.38481794G>A | CA359533494 | LIFR | c.3095C>T (p.Ala1032Val) c.3062C>T (p.Ala1021Val) c.3149C>T (p.Ala1050Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481794G>C | CA359533495 | LIFR | c.3095C>G (p.Ala1032Gly) c.3062C>G (p.Ala1021Gly) c.3149C>G (p.Ala1050Gly) | |
5 | g.38481794G= | CA1540249074 | LIFR | c.3095C= (p.Ala1032=) c.3062C= (p.Ala1021=) c.3149C= (p.Ala1050=) | |
5 | g.38481794G>T | CA3242506 | LIFR | c.3095C>A (p.Ala1032Asp) c.3062C>A (p.Ala1021Asp) c.3149C>A (p.Ala1050Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481795C>A | CA117134071 | LIFR | c.3094G>T (p.Ala1032Ser) c.3061G>T (p.Ala1021Ser) c.3148G>T (p.Ala1050Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481795C= | CA1540249077 | LIFR | c.3094G= (p.Ala1032=) c.3061G= (p.Ala1021=) c.3148G= (p.Ala1050=) | |
5 | g.38481795C>G | CA359533496 | LIFR | c.3094G>C (p.Ala1032Pro) c.3061G>C (p.Ala1021Pro) c.3148G>C (p.Ala1050Pro) | |
5 | g.38481795C>T | CA359533497 | LIFR | c.3094G>A (p.Ala1032Thr) c.3061G>A (p.Ala1021Thr) c.3148G>A (p.Ala1050Thr) | dbSNP gnomAD v4 |
5 | g.38481796C>A | CA359533498 | LIFR | c.3093G>T (p.Gln1031His) c.3060G>T (p.Gln1020His) c.3147G>T (p.Gln1049His) | |
5 | g.38481796C>G | CA359533499 | LIFR | c.3093G>C (p.Gln1031His) c.3060G>C (p.Gln1020His) c.3147G>C (p.Gln1049His) | |
5 | g.38481796C>T | CA444099375 | LIFR | c.3093G>A (p.Gln1031=) c.3060G>A (p.Gln1020=) c.3147G>A (p.Gln1049=) | |
5 | g.38481797T>A | CA359533500 | LIFR | c.3092A>T (p.Gln1031Leu) c.3059A>T (p.Gln1020Leu) c.3146A>T (p.Gln1049Leu) | |
5 | g.38481797T>C | CA3242507 | LIFR | c.3092A>G (p.Gln1031Arg) c.3059A>G (p.Gln1020Arg) c.3146A>G (p.Gln1049Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481797T>G | CA359533501 | LIFR | c.3092A>C (p.Gln1031Pro) c.3059A>C (p.Gln1020Pro) c.3146A>C (p.Gln1049Pro) | |
5 | g.38481797T= | CA1540249081 | LIFR | c.3092A= (p.Gln1031=) c.3059A= (p.Gln1020=) c.3146A= (p.Gln1049=) | |
5 | g.38481798G>A | CA359533503 | LIFR | c.3091C>T (p.Gln1031Ter) c.3058C>T (p.Gln1020Ter) c.3145C>T (p.Gln1049Ter) | |
5 | g.38481798G>C | CA359533506 | LIFR | c.3091C>G (p.Gln1031Glu) c.3058C>G (p.Gln1020Glu) c.3145C>G (p.Gln1049Glu) | dbSNP gnomAD v4 |
5 | g.38481798G= | CA1540249086 | LIFR | c.3091C= (p.Gln1031=) c.3058C= (p.Gln1020=) c.3145C= (p.Gln1049=) | |
5 | g.38481798G>T | CA359533504 | LIFR | c.3091C>A (p.Gln1031Lys) c.3058C>A (p.Gln1020Lys) c.3145C>A (p.Gln1049Lys) | |
5 | g.38481799A>C | CA444099383 | LIFR | c.3090T>G (p.Pro1030=) c.3057T>G (p.Pro1019=) c.3144T>G (p.Pro1048=) | |
5 | g.38481799A>G | CA444099387 | LIFR | c.3090T>C (p.Pro1030=) c.3057T>C (p.Pro1019=) c.3144T>C (p.Pro1048=) | |
5 | g.38481799A>T | CA444099384 | LIFR | c.3090T>A (p.Pro1030=) c.3057T>A (p.Pro1019=) c.3144T>A (p.Pro1048=) | |
5 | g.38481800G>A | CA359533507 | LIFR | c.3089C>T (p.Pro1030Leu) c.3056C>T (p.Pro1019Leu) c.3143C>T (p.Pro1048Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481800G>C | CA359533509 | LIFR | c.3089C>G (p.Pro1030Arg) c.3056C>G (p.Pro1019Arg) c.3143C>G (p.Pro1048Arg) | |
5 | g.38481800G= | CA1540249088 | LIFR | c.3089C= (p.Pro1030=) c.3056C= (p.Pro1019=) c.3143C= (p.Pro1048=) | |
5 | g.38481800G>T | CA359533510 | LIFR | c.3089C>A (p.Pro1030His) c.3056C>A (p.Pro1019His) c.3143C>A (p.Pro1048His) | |
5 | g.38481801G>A | CA359533512 | LIFR | c.3088C>T (p.Pro1030Ser) c.3055C>T (p.Pro1019Ser) c.3142C>T (p.Pro1048Ser) | |
5 | g.38481801G>C | CA359533513 | LIFR | c.3088C>G (p.Pro1030Ala) c.3055C>G (p.Pro1019Ala) c.3142C>G (p.Pro1048Ala) | |
5 | g.38481801G= | CA1540249092 | LIFR | c.3088C= (p.Pro1030=) c.3055C= (p.Pro1019=) c.3142C= (p.Pro1048=) | |
5 | g.38481801G>T | CA359533515 | LIFR | c.3088C>A (p.Pro1030Thr) c.3055C>A (p.Pro1019Thr) c.3142C>A (p.Pro1048Thr) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.38481802T>A | CA359533517 | LIFR | c.3087A>T (p.Arg1029Ser) c.3054A>T (p.Arg1018Ser) c.3141A>T (p.Arg1047Ser) | |
5 | g.38481802T>C | CA3242508 | LIFR | c.3087A>G (p.Arg1029=) c.3054A>G (p.Arg1018=) c.3141A>G (p.Arg1047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481802T>G | CA359533520 | LIFR | c.3087A>C (p.Arg1029Ser) c.3054A>C (p.Arg1018Ser) c.3141A>C (p.Arg1047Ser) | |
5 | g.38481802T= | CA1540249098 | LIFR | c.3087A= (p.Arg1029=) c.3054A= (p.Arg1018=) c.3141A= (p.Arg1047=) | |
5 | g.38481803C>A | CA359533521 | LIFR | c.3086G>T (p.Arg1029Ile) c.3053G>T (p.Arg1018Ile) c.3140G>T (p.Arg1047Ile) | |
5 | g.38481803C= | CA1540249103 | LIFR | c.3086G= (p.Arg1029=) c.3053G= (p.Arg1018=) c.3140G= (p.Arg1047=) | |
5 | g.38481803C>G | CA359533522 | LIFR | c.3086G>C (p.Arg1029Thr) c.3053G>C (p.Arg1018Thr) c.3140G>C (p.Arg1047Thr) | |
5 | g.38481803C>T | CA117134102 | LIFR | c.3086G>A (p.Arg1029Lys) c.3053G>A (p.Arg1018Lys) c.3140G>A (p.Arg1047Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.38481804T>A | CA359533527 | LIFR | c.3085A>T (p.Arg1029Ter) c.3052A>T (p.Arg1018Ter) c.3139A>T (p.Arg1047Ter) | |
5 | g.38481804T>C | CA359533523 | LIFR | c.3085A>G (p.Arg1029Gly) c.3052A>G (p.Arg1018Gly) c.3139A>G (p.Arg1047Gly) | gnomAD v4 |
5 | g.38481804T>G | CA444099399 | LIFR | c.3085A>C (p.Arg1029=) c.3052A>C (p.Arg1018=) c.3139A>C (p.Arg1047=) | |
5 | g.38481805G>A | CA3242509 | LIFR | c.3084C>T (p.Tyr1028=) c.3051C>T (p.Tyr1017=) c.3138C>T (p.Tyr1046=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481805G>C | CA359533530 | LIFR | c.3084C>G (p.Tyr1028Ter) c.3051C>G (p.Tyr1017Ter) c.3138C>G (p.Tyr1046Ter) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481805G= | CA1540249110 | LIFR | c.3084C= (p.Tyr1028=) c.3051C= (p.Tyr1017=) c.3138C= (p.Tyr1046=) | |
5 | g.38481805G>T | CA359533532 | LIFR | c.3084C>A (p.Tyr1028Ter) c.3051C>A (p.Tyr1017Ter) c.3138C>A (p.Tyr1046Ter) | |
5 | g.38481806T>A | CA359533534 | LIFR | c.3083A>T (p.Tyr1028Phe) c.3050A>T (p.Tyr1017Phe) c.3137A>T (p.Tyr1046Phe) | |
5 | g.38481806T>C | CA359533535 | LIFR | c.3083A>G (p.Tyr1028Cys) c.3050A>G (p.Tyr1017Cys) c.3137A>G (p.Tyr1046Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481806T>G | CA359533537 | LIFR | c.3083A>C (p.Tyr1028Ser) c.3050A>C (p.Tyr1017Ser) c.3137A>C (p.Tyr1046Ser) | |
5 | g.38481806T= | CA1540249118 | LIFR | c.3083A= (p.Tyr1028=) c.3050A= (p.Tyr1017=) c.3137A= (p.Tyr1046=) | |
5 | g.38481807A= | CA1540249124 | LIFR | c.3082T= (p.Tyr1028=) c.3049T= (p.Tyr1017=) c.3136T= (p.Tyr1046=) | |
5 | g.38481807A>C | CA359533539 | LIFR | c.3082T>G (p.Tyr1028Asp) c.3049T>G (p.Tyr1017Asp) c.3136T>G (p.Tyr1046Asp) | |
5 | g.38481807A>G | CA359533540 | LIFR | c.3082T>C (p.Tyr1028His) c.3049T>C (p.Tyr1017His) c.3136T>C (p.Tyr1046His) | |
5 | g.38481807A>T | CA10621869 | LIFR | c.3082T>A (p.Tyr1028Asn) c.3049T>A (p.Tyr1017Asn) c.3136T>A (p.Tyr1046Asn) | ClinVar dbSNP |
5 | g.38481808A>C | CA444099410 | LIFR | c.3081T>G (p.Gly1027=) c.3048T>G (p.Gly1016=) c.3135T>G (p.Gly1045=) | |
5 | g.38481808A>G | CA444099412 | LIFR | c.3081T>C (p.Gly1027=) c.3048T>C (p.Gly1016=) c.3135T>C (p.Gly1045=) | gnomAD v4 |
5 | g.38481808A>T | CA444099413 | LIFR | c.3081T>A (p.Gly1027=) c.3048T>A (p.Gly1016=) c.3135T>A (p.Gly1045=) |