Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
5 | g.38481809C>A | CA359533542 | LIFR | c.3080G>T (p.Gly1027Val) c.3047G>T (p.Gly1016Val) c.3134G>T (p.Gly1045Val) | |
5 | g.38481809C>G | CA359533543 | LIFR | c.3080G>C (p.Gly1027Ala) c.3047G>C (p.Gly1016Ala) c.3134G>C (p.Gly1045Ala) | |
5 | g.38481809C>T | CA359533545 | LIFR | c.3080G>A (p.Gly1027Asp) c.3047G>A (p.Gly1016Asp) c.3134G>A (p.Gly1045Asp) | gnomAD v4 |
5 | g.38481810C>A | CA359533548 | LIFR | c.3079G>T (p.Gly1027Cys) c.3046G>T (p.Gly1016Cys) c.3133G>T (p.Gly1045Cys) | |
5 | g.38481810C= | CA1540249127 | LIFR | c.3079G= (p.Gly1027=) c.3046G= (p.Gly1016=) c.3133G= (p.Gly1045=) | |
5 | g.38481810C>G | CA3242510 | LIFR | c.3079G>C (p.Gly1027Arg) c.3046G>C (p.Gly1016Arg) c.3133G>C (p.Gly1045Arg) | dbSNP ExAC |
5 | g.38481810C>T | CA359533546 | LIFR | c.3079G>A (p.Gly1027Ser) c.3046G>A (p.Gly1016Ser) c.3133G>A (p.Gly1045Ser) | |
5 | g.38481811C>A | CA444099421 | LIFR | c.3078G>T (p.Ala1026=) c.3045G>T (p.Ala1015=) c.3132G>T (p.Ala1044=) | |
5 | g.38481811C= | CA1540249135 | LIFR | c.3078G= (p.Ala1026=) c.3045G= (p.Ala1015=) c.3132G= (p.Ala1044=) | |
5 | g.38481811C>G | CA444099422 | LIFR | c.3078G>C (p.Ala1026=) c.3045G>C (p.Ala1015=) c.3132G>C (p.Ala1044=) | ClinVar dbSNP |
5 | g.38481811C>T | CA3242511 | LIFR | c.3078G>A (p.Ala1026=) c.3045G>A (p.Ala1015=) c.3132G>A (p.Ala1044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481812G>A | CA3242512 | LIFR | c.3077C>T (p.Ala1026Val) c.3044C>T (p.Ala1015Val) c.3131C>T (p.Ala1044Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.38481812G>C | CA359533551 | LIFR | c.3077C>G (p.Ala1026Gly) c.3044C>G (p.Ala1015Gly) c.3131C>G (p.Ala1044Gly) | |
5 | g.38481812G= | CA1540249141 | LIFR | c.3077C= (p.Ala1026=) c.3044C= (p.Ala1015=) c.3131C= (p.Ala1044=) | |
5 | g.38481812G>T | CA359533552 | LIFR | c.3077C>A (p.Ala1026Glu) c.3044C>A (p.Ala1015Glu) c.3131C>A (p.Ala1044Glu) | |
5 | g.38481813C>A | CA359533553 | LIFR | c.3076G>T (p.Ala1026Ser) c.3043G>T (p.Ala1015Ser) c.3130G>T (p.Ala1044Ser) | dbSNP |
5 | g.38481813C= | CA1540249145 | LIFR | c.3076G= (p.Ala1026=) c.3043G= (p.Ala1015=) c.3130G= (p.Ala1044=) | |
5 | g.38481813C>G | CA359533555 | LIFR | c.3076G>C (p.Ala1026Pro) c.3043G>C (p.Ala1015Pro) c.3130G>C (p.Ala1044Pro) | |
5 | g.38481813C>T | CA359533556 | LIFR | c.3076G>A (p.Ala1026Thr) c.3043G>A (p.Ala1015Thr) c.3130G>A (p.Ala1044Thr) | |
5 | g.38481814A>C | CA444099427 | LIFR | c.3075T>G (p.Thr1025=) c.3042T>G (p.Thr1014=) c.3129T>G (p.Thr1043=) | |
5 | g.38481814A>G | CA444099430 | LIFR | c.3075T>C (p.Thr1025=) c.3042T>C (p.Thr1014=) c.3129T>C (p.Thr1043=) | |
5 | g.38481814A>T | CA444099431 | LIFR | c.3075T>A (p.Thr1025=) c.3042T>A (p.Thr1014=) c.3129T>A (p.Thr1043=) | |
5 | g.38481815G>A | CA359533564 | LIFR | c.3074C>T (p.Thr1025Ile) c.3041C>T (p.Thr1014Ile) c.3128C>T (p.Thr1043Ile) | dbSNP gnomAD v4 |
5 | g.38481815G>C | CA359533558 | LIFR | c.3074C>G (p.Thr1025Ser) c.3041C>G (p.Thr1014Ser) c.3128C>G (p.Thr1043Ser) | dbSNP gnomAD v4 |
5 | g.38481815G= | CA1540249148 | LIFR | c.3074C= (p.Thr1025=) c.3041C= (p.Thr1014=) c.3128C= (p.Thr1043=) | |
5 | g.38481815G>T | CA359533560 | LIFR | c.3074C>A (p.Thr1025Asn) c.3041C>A (p.Thr1014Asn) c.3128C>A (p.Thr1043Asn) | COSMIC COSMIC |
5 | g.38481816T>A | CA359533566 | LIFR | c.3073A>T (p.Thr1025Ser) c.3040A>T (p.Thr1014Ser) c.3127A>T (p.Thr1043Ser) | |
5 | g.38481816T>C | CA359533568 | LIFR | c.3073A>G (p.Thr1025Ala) c.3040A>G (p.Thr1014Ala) c.3127A>G (p.Thr1043Ala) | |
5 | g.38481816T>G | CA359533569 | LIFR | c.3073A>C (p.Thr1025Pro) c.3040A>C (p.Thr1014Pro) c.3127A>C (p.Thr1043Pro) | |
5 | g.38481817T>A | CA359533571 | LIFR | c.3072A>T (p.Lys1024Asn) c.3039A>T (p.Lys1013Asn) c.3126A>T (p.Lys1042Asn) | |
5 | g.38481817T>C | CA444099443 | LIFR | c.3072A>G (p.Lys1024=) c.3039A>G (p.Lys1013=) c.3126A>G (p.Lys1042=) | |
5 | g.38481817T>G | CA359533572 | LIFR | c.3072A>C (p.Lys1024Asn) c.3039A>C (p.Lys1013Asn) c.3126A>C (p.Lys1042Asn) | |
5 | g.38481818T>A | CA359533573 | LIFR | c.3071A>T (p.Lys1024Ile) c.3038A>T (p.Lys1013Ile) c.3125A>T (p.Lys1042Ile) | |
5 | g.38481818T>C | CA359533575 | LIFR | c.3071A>G (p.Lys1024Arg) c.3038A>G (p.Lys1013Arg) c.3125A>G (p.Lys1042Arg) | gnomAD v4 |
5 | g.38481818T>G | CA359533574 | LIFR | c.3071A>C (p.Lys1024Thr) c.3038A>C (p.Lys1013Thr) c.3125A>C (p.Lys1042Thr) | |
5 | g.38481819T>A | CA359533576 | LIFR | c.3070A>T (p.Lys1024Ter) c.3037A>T (p.Lys1013Ter) c.3124A>T (p.Lys1042Ter) | |
5 | g.38481819T>C | CA3242513 | LIFR | c.3070A>G (p.Lys1024Glu) c.3037A>G (p.Lys1013Glu) c.3124A>G (p.Lys1042Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.38481819T>G | CA359533577 | LIFR | c.3070A>C (p.Lys1024Gln) c.3037A>C (p.Lys1013Gln) c.3124A>C (p.Lys1042Gln) | |
5 | g.38481819T= | CA1540249151 | LIFR | c.3070A= (p.Lys1024=) c.3037A= (p.Lys1013=) c.3124A= (p.Lys1042=) | |
5 | g.38481820A>C | CA359533578 | LIFR | c.3069T>G (p.Asp1023Glu) c.3036T>G (p.Asp1012Glu) c.3123T>G (p.Asp1041Glu) | |
5 | g.38481820A>G | CA444099452 | LIFR | c.3069T>C (p.Asp1023=) c.3036T>C (p.Asp1012=) c.3123T>C (p.Asp1041=) | |
5 | g.38481820A>T | CA359533580 | LIFR | c.3069T>A (p.Asp1023Glu) c.3036T>A (p.Asp1012Glu) c.3123T>A (p.Asp1041Glu) | |
5 | g.38481821del | CA2504195055 | LIFR | c.3068del (p.Asp1023ValfsTer12) c.3035del (p.Asp1012ValfsTer12) c.3122del (p.Asp1041ValfsTer12) | |
5 | g.38481821T>A | CA359533583 | LIFR | c.3068A>T (p.Asp1023Val) c.3035A>T (p.Asp1012Val) c.3122A>T (p.Asp1041Val) | gnomAD v4 |
5 | g.38481821T>C | CA359533587 | LIFR | c.3068A>G (p.Asp1023Gly) c.3035A>G (p.Asp1012Gly) c.3122A>G (p.Asp1041Gly) | |
5 | g.38481821T>G | CA359533588 | LIFR | c.3068A>C (p.Asp1023Ala) c.3035A>C (p.Asp1012Ala) c.3122A>C (p.Asp1041Ala) | |
5 | g.38481822C>A | CA359533590 | LIFR | c.3067G>T (p.Asp1023Tyr) c.3034G>T (p.Asp1012Tyr) c.3121G>T (p.Asp1041Tyr) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481822C= | CA1540249155 | LIFR | c.3067G= (p.Asp1023=) c.3034G= (p.Asp1012=) c.3121G= (p.Asp1041=) | |
5 | g.38481822C>G | CA359533592 | LIFR | c.3067G>C (p.Asp1023His) c.3034G>C (p.Asp1012His) c.3121G>C (p.Asp1041His) | |
5 | g.38481822C>T | CA359533593 | LIFR | c.3067G>A (p.Asp1023Asn) c.3034G>A (p.Asp1012Asn) c.3121G>A (p.Asp1041Asn) | |
5 | g.38481823T>A | CA359533596 | LIFR | c.3066A>T (p.Leu1022Phe) c.3033A>T (p.Leu1011Phe) c.3120A>T (p.Leu1040Phe) | |
5 | g.38481823T>C | CA444099457 | LIFR | c.3066A>G (p.Leu1022=) c.3033A>G (p.Leu1011=) c.3120A>G (p.Leu1040=) | |
5 | g.38481823T>G | CA359533594 | LIFR | c.3066A>C (p.Leu1022Phe) c.3033A>C (p.Leu1011Phe) c.3120A>C (p.Leu1040Phe) | |
5 | g.38481824A>C | CA359533598 | LIFR | c.3065T>G (p.Leu1022Ter) c.3032T>G (p.Leu1011Ter) c.3119T>G (p.Leu1040Ter) | |
5 | g.38481824A>G | CA359533600 | LIFR | c.3065T>C (p.Leu1022Ser) c.3032T>C (p.Leu1011Ser) c.3119T>C (p.Leu1040Ser) | |
5 | g.38481824A>T | CA359533601 | LIFR | c.3065T>A (p.Leu1022Ter) c.3032T>A (p.Leu1011Ter) c.3119T>A (p.Leu1040Ter) | |
5 | g.38481825del | CA2673627546 | LIFR | c.3065del (p.Leu1022Ter) c.3032del (p.Leu1011Ter) c.3119del (p.Leu1040Ter) | gnomAD v4 |
5 | g.38481825A= | CA1540249160 | LIFR | c.3064T= (p.Leu1022=) c.3031T= (p.Leu1011=) c.3118T= (p.Leu1040=) | |
5 | g.38481825A>C | CA359533602 | LIFR | c.3064T>G (p.Leu1022Val) c.3031T>G (p.Leu1011Val) c.3118T>G (p.Leu1040Val) | |
5 | g.38481825A>G | CA444099461 | LIFR | c.3064T>C (p.Leu1022=) c.3031T>C (p.Leu1011=) c.3118T>C (p.Leu1040=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.38481825A>T | CA359533604 | LIFR | c.3064T>A (p.Leu1022Ile) c.3031T>A (p.Leu1011Ile) c.3118T>A (p.Leu1040Ile) | |
5 | g.38481826G>A | CA444099464 | LIFR | c.3063C>T (p.Asp1021=) c.3030C>T (p.Asp1010=) c.3117C>T (p.Asp1039=) | |
5 | g.38481826G>C | CA359533605 | LIFR | c.3063C>G (p.Asp1021Glu) c.3030C>G (p.Asp1010Glu) c.3117C>G (p.Asp1039Glu) | |
5 | g.38481826G>T | CA359533606 | LIFR | c.3063C>A (p.Asp1021Glu) c.3030C>A (p.Asp1010Glu) c.3117C>A (p.Asp1039Glu) | |
5 | g.38481827T>A | CA359533607 | LIFR | c.3062A>T (p.Asp1021Val) c.3029A>T (p.Asp1010Val) c.3116A>T (p.Asp1039Val) | |
5 | g.38481827T>C | CA359533608 | LIFR | c.3062A>G (p.Asp1021Gly) c.3029A>G (p.Asp1010Gly) c.3116A>G (p.Asp1039Gly) | |
5 | g.38481827T>G | CA359533610 | LIFR | c.3062A>C (p.Asp1021Ala) c.3029A>C (p.Asp1010Ala) c.3116A>C (p.Asp1039Ala) | |
5 | g.38481828C>A | CA359533611 | LIFR | c.3061G>T (p.Asp1021Tyr) c.3028G>T (p.Asp1010Tyr) c.3115G>T (p.Asp1039Tyr) | |
5 | g.38481828C= | CA1540249163 | LIFR | c.3061G= (p.Asp1021=) c.3028G= (p.Asp1010=) c.3115G= (p.Asp1039=) | |
5 | g.38481828C>G | CA3242514 | LIFR | c.3061G>C (p.Asp1021His) c.3028G>C (p.Asp1010His) c.3115G>C (p.Asp1039His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481828C>T | CA359533613 | LIFR | c.3061G>A (p.Asp1021Asn) c.3028G>A (p.Asp1010Asn) c.3115G>A (p.Asp1039Asn) | dbSNP gnomAD v2 |
5 | g.38481829C>A | CA359533615 | LIFR | c.3060G>T (p.Glu1020Asp) c.3027G>T (p.Glu1009Asp) c.3114G>T (p.Glu1038Asp) | |
5 | g.38481829C= | CA1540249169 | LIFR | c.3060G= (p.Glu1020=) c.3027G= (p.Glu1009=) c.3114G= (p.Glu1038=) | |
5 | g.38481829C>G | CA359533617 | LIFR | c.3060G>C (p.Glu1020Asp) c.3027G>C (p.Glu1009Asp) c.3114G>C (p.Glu1038Asp) | |
5 | g.38481829C>T | CA3242515 | LIFR | c.3060G>A (p.Glu1020=) c.3027G>A (p.Glu1009=) c.3114G>A (p.Glu1038=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481830T>A | CA359533618 | LIFR | c.3059A>T (p.Glu1020Val) c.3026A>T (p.Glu1009Val) c.3113A>T (p.Glu1038Val) | |
5 | g.38481830T>C | CA359533619 | LIFR | c.3059A>G (p.Glu1020Gly) c.3026A>G (p.Glu1009Gly) c.3113A>G (p.Glu1038Gly) | |
5 | g.38481830T>G | CA359533621 | LIFR | c.3059A>C (p.Glu1020Ala) c.3026A>C (p.Glu1009Ala) c.3113A>C (p.Glu1038Ala) | gnomAD v4 |
5 | g.38481831C>A | CA359533623 | LIFR | c.3058G>T (p.Glu1020Ter) c.3025G>T (p.Glu1009Ter) c.3112G>T (p.Glu1038Ter) | |
5 | g.38481831C= | CA1540249178 | LIFR | c.3058G= (p.Glu1020=) c.3025G= (p.Glu1009=) c.3112G= (p.Glu1038=) | |
5 | g.38481831C>G | CA359533625 | LIFR | c.3058G>C (p.Glu1020Gln) c.3025G>C (p.Glu1009Gln) c.3112G>C (p.Glu1038Gln) | |
5 | g.38481831C>T | CA3242516 | LIFR | c.3058G>A (p.Glu1020Lys) c.3025G>A (p.Glu1009Lys) c.3112G>A (p.Glu1038Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481832T>A | CA359533629 | LIFR | c.3057A>T (p.Glu1019Asp) c.3024A>T (p.Glu1008Asp) c.3111A>T (p.Glu1037Asp) | |
5 | g.38481832T>C | CA444099476 | LIFR | c.3057A>G (p.Glu1019=) c.3024A>G (p.Glu1008=) c.3111A>G (p.Glu1037=) | |
5 | g.38481832T>G | CA359533627 | LIFR | c.3057A>C (p.Glu1019Asp) c.3024A>C (p.Glu1008Asp) c.3111A>C (p.Glu1037Asp) | |
5 | g.38481833T>A | CA359533630 | LIFR | c.3056A>T (p.Glu1019Val) c.3023A>T (p.Glu1008Val) c.3110A>T (p.Glu1037Val) | |
5 | g.38481833T>C | CA359533632 | LIFR | c.3056A>G (p.Glu1019Gly) c.3023A>G (p.Glu1008Gly) c.3110A>G (p.Glu1037Gly) | |
5 | g.38481833T>G | CA359533634 | LIFR | c.3056A>C (p.Glu1019Ala) c.3023A>C (p.Glu1008Ala) c.3110A>C (p.Glu1037Ala) | |
5 | g.38481834C>A | CA359533636 | LIFR | c.3055G>T (p.Glu1019Ter) c.3022G>T (p.Glu1008Ter) c.3109G>T (p.Glu1037Ter) | |
5 | g.38481834C= | CA1540249182 | LIFR | c.3055G= (p.Glu1019=) c.3022G= (p.Glu1008=) c.3109G= (p.Glu1037=) | |
5 | g.38481834C>G | CA359533637 | LIFR | c.3055G>C (p.Glu1019Gln) c.3022G>C (p.Glu1008Gln) c.3109G>C (p.Glu1037Gln) | |
5 | g.38481834C>T | CA3242517 | LIFR | c.3055G>A (p.Glu1019Lys) c.3022G>A (p.Glu1008Lys) c.3109G>A (p.Glu1037Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.38481835T>A | CA444099491 | LIFR | c.3054A>T (p.Ala1018=) c.3021A>T (p.Ala1007=) c.3108A>T (p.Ala1036=) | |
5 | g.38481835T>C | CA444099489 | LIFR | c.3054A>G (p.Ala1018=) c.3021A>G (p.Ala1007=) c.3108A>G (p.Ala1036=) | dbSNP |
5 | g.38481835T>G | CA444099490 | LIFR | c.3054A>C (p.Ala1018=) c.3021A>C (p.Ala1007=) c.3108A>C (p.Ala1036=) | |
5 | g.38481835T= | CA1540249185 | LIFR | c.3054A= (p.Ala1018=) c.3021A= (p.Ala1007=) c.3108A= (p.Ala1036=) | |
5 | g.38481836G>A | CA359533642 | LIFR | c.3053C>T (p.Ala1018Val) c.3020C>T (p.Ala1007Val) c.3107C>T (p.Ala1036Val) | |
5 | g.38481836G>C | CA359533641 | LIFR | c.3053C>G (p.Ala1018Gly) c.3020C>G (p.Ala1007Gly) c.3107C>G (p.Ala1036Gly) | |
5 | g.38481836G>T | CA359533639 | LIFR | c.3053C>A (p.Ala1018Glu) c.3020C>A (p.Ala1007Glu) c.3107C>A (p.Ala1036Glu) | |
5 | g.38481837C>A | CA359533643 | LIFR | c.3052G>T (p.Ala1018Ser) c.3019G>T (p.Ala1007Ser) c.3106G>T (p.Ala1036Ser) | |
5 | g.38481837C= | CA1540249187 | LIFR | c.3052G= (p.Ala1018=) c.3019G= (p.Ala1007=) c.3106G= (p.Ala1036=) | |
5 | g.38481837C>G | CA359533645 | LIFR | c.3052G>C (p.Ala1018Pro) c.3019G>C (p.Ala1007Pro) c.3106G>C (p.Ala1036Pro) | |
5 | g.38481837C>T | CA117134152 | LIFR | c.3052G>A (p.Ala1018Thr) c.3019G>A (p.Ala1007Thr) c.3106G>A (p.Ala1036Thr) | dbSNP |
5 | g.38481838A= | CA1540249190 | LIFR | c.3051T= (p.Ala1017=) c.3018T= (p.Ala1006=) c.3105T= (p.Ala1035=) | |
5 | g.38481838A>C | CA444099496 | LIFR | c.3051T>G (p.Ala1017=) c.3018T>G (p.Ala1006=) c.3105T>G (p.Ala1035=) | |
5 | g.38481838A>G | CA444099498 | LIFR | c.3051T>C (p.Ala1017=) c.3018T>C (p.Ala1006=) c.3105T>C (p.Ala1035=) | dbSNP gnomAD v4 |
5 | g.38481838A>T | CA444099501 | LIFR | c.3051T>A (p.Ala1017=) c.3018T>A (p.Ala1006=) c.3105T>A (p.Ala1035=) | |
5 | g.38481839G>A | CA359533646 | LIFR | c.3050C>T (p.Ala1017Val) c.3017C>T (p.Ala1006Val) c.3104C>T (p.Ala1035Val) | |
5 | g.38481839G>C | CA359533647 | LIFR | c.3050C>G (p.Ala1017Gly) c.3017C>G (p.Ala1006Gly) c.3104C>G (p.Ala1035Gly) | |
5 | g.38481839G>T | CA359533648 | LIFR | c.3050C>A (p.Ala1017Asp) c.3017C>A (p.Ala1006Asp) c.3104C>A (p.Ala1035Asp) |