WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104818830C>A | CA120489 | ABCA1 | c.3295G>T (p.Asp1099Tyr) c.3115G>T (p.Asp1039Tyr) c.3370G>T (p.Asp1124Tyr) c.2932G>T (p.Asp978Tyr) c.3232G>T (p.Asp1078Tyr) n.3683G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104818830C= | CA1869947890 | ABCA1 | c.3295G= (p.Asp1099=) c.3115G= (p.Asp1039=) c.3370G= (p.Asp1124=) c.2932G= (p.Asp978=) c.3232G= (p.Asp1078=) n.3683G= | |
| 9 | g.104818830C>G | CA374318918 | ABCA1 | c.3295G>C (p.Asp1099His) c.3115G>C (p.Asp1039His) c.3370G>C (p.Asp1124His) c.2932G>C (p.Asp978His) c.3232G>C (p.Asp1078His) n.3683G>C | |
| 9 | g.104818830C>T | CA5168470 | ABCA1 | c.3295G>A (p.Asp1099Asn) c.3115G>A (p.Asp1039Asn) c.3370G>A (p.Asp1124Asn) c.2932G>A (p.Asp978Asn) c.3232G>A (p.Asp1078Asn) n.3683G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104818831C>A | CA466506048 | ABCA1 | c.3294G>T (p.Gly1098=) c.3114G>T (p.Gly1038=) c.3369G>T (p.Gly1123=) c.2931G>T (p.Gly977=) c.3231G>T (p.Gly1077=) n.3682G>T | gnomAD v4 |
| 9 | g.104818831C>G | CA466506050 | ABCA1 | c.3294G>C (p.Gly1098=) c.3114G>C (p.Gly1038=) c.3369G>C (p.Gly1123=) c.2931G>C (p.Gly977=) c.3231G>C (p.Gly1077=) n.3682G>C | |
| 9 | g.104818831C>T | CA466506049 | ABCA1 | c.3294G>A (p.Gly1098=) c.3114G>A (p.Gly1038=) c.3369G>A (p.Gly1123=) c.2931G>A (p.Gly977=) c.3231G>A (p.Gly1077=) n.3682G>A | |
| 9 | g.104818832C>A | CA374318921 | ABCA1 | c.3293G>T (p.Gly1098Val) c.3113G>T (p.Gly1038Val) c.3368G>T (p.Gly1123Val) c.2930G>T (p.Gly977Val) c.3230G>T (p.Gly1077Val) n.3681G>T | |
| 9 | g.104818832C>G | CA374318922 | ABCA1 | c.3293G>C (p.Gly1098Ala) c.3113G>C (p.Gly1038Ala) c.3368G>C (p.Gly1123Ala) c.2930G>C (p.Gly977Ala) c.3230G>C (p.Gly1077Ala) n.3681G>C | |
| 9 | g.104818832C>T | CA374318924 | ABCA1 | c.3293G>A (p.Gly1098Glu) c.3113G>A (p.Gly1038Glu) c.3368G>A (p.Gly1123Glu) c.2930G>A (p.Gly977Glu) c.3230G>A (p.Gly1077Glu) n.3681G>A | |
| 9 | g.104818833C>A | CA374318927 | ABCA1 | c.3292G>T (p.Gly1098Trp) c.3112G>T (p.Gly1038Trp) c.3367G>T (p.Gly1123Trp) c.2929G>T (p.Gly977Trp) c.3229G>T (p.Gly1077Trp) n.3680G>T | |
| 9 | g.104818833C>G | CA374318929 | ABCA1 | c.3292G>C (p.Gly1098Arg) c.3112G>C (p.Gly1038Arg) c.3367G>C (p.Gly1123Arg) c.2929G>C (p.Gly977Arg) c.3229G>C (p.Gly1077Arg) n.3680G>C | |
| 9 | g.104818833C>T | CA374318931 | ABCA1 | c.3292G>A (p.Gly1098Arg) c.3112G>A (p.Gly1038Arg) c.3367G>A (p.Gly1123Arg) c.2929G>A (p.Gly977Arg) c.3229G>A (p.Gly1077Arg) n.3680G>A | |
| 9 | g.104818834C>A | CA466506051 | ABCA1 | c.3291G>T (p.Leu1097=) c.3111G>T (p.Leu1037=) c.3366G>T (p.Leu1122=) c.2928G>T (p.Leu976=) c.3228G>T (p.Leu1076=) n.3679G>T | |
| 9 | g.104818834C= | CA1869947905 | ABCA1 | c.3291G= (p.Leu1097=) c.3111G= (p.Leu1037=) c.3366G= (p.Leu1122=) c.2928G= (p.Leu976=) c.3228G= (p.Leu1076=) n.3679G= | |
| 9 | g.104818834C>G | CA466506052 | ABCA1 | c.3291G>C (p.Leu1097=) c.3111G>C (p.Leu1037=) c.3366G>C (p.Leu1122=) c.2928G>C (p.Leu976=) c.3228G>C (p.Leu1076=) n.3679G>C | |
| 9 | g.104818834C>T | CA197383231 | ABCA1 | c.3291G>A (p.Leu1097=) c.3111G>A (p.Leu1037=) c.3366G>A (p.Leu1122=) c.2928G>A (p.Leu976=) c.3228G>A (p.Leu1076=) n.3679G>A | dbSNP gnomAD v4 |
| 9 | g.104818835A>C | CA374318934 | ABCA1 | c.3290T>G (p.Leu1097Arg) c.3110T>G (p.Leu1037Arg) c.3365T>G (p.Leu1122Arg) c.2927T>G (p.Leu976Arg) c.3227T>G (p.Leu1076Arg) n.3678T>G | |
| 9 | g.104818835A>G | CA374318936 | ABCA1 | c.3290T>C (p.Leu1097Pro) c.3110T>C (p.Leu1037Pro) c.3365T>C (p.Leu1122Pro) c.2927T>C (p.Leu976Pro) c.3227T>C (p.Leu1076Pro) n.3678T>C | |
| 9 | g.104818835A>T | CA374318938 | ABCA1 | c.3290T>A (p.Leu1097Gln) c.3110T>A (p.Leu1037Gln) c.3365T>A (p.Leu1122Gln) c.2927T>A (p.Leu976Gln) c.3227T>A (p.Leu1076Gln) n.3678T>A | |
| 9 | g.104818836G>A | CA466506053 | ABCA1 | c.3289C>T (p.Leu1097=) c.3109C>T (p.Leu1037=) c.3364C>T (p.Leu1122=) c.2926C>T (p.Leu976=) c.3226C>T (p.Leu1076=) n.3677C>T | |
| 9 | g.104818836G>C | CA374318940 | ABCA1 | c.3289C>G (p.Leu1097Val) c.3109C>G (p.Leu1037Val) c.3364C>G (p.Leu1122Val) c.2926C>G (p.Leu976Val) c.3226C>G (p.Leu1076Val) n.3677C>G | |
| 9 | g.104818836G>T | CA374318942 | ABCA1 | c.3289C>A (p.Leu1097Met) c.3109C>A (p.Leu1037Met) c.3364C>A (p.Leu1122Met) c.2926C>A (p.Leu976Met) c.3226C>A (p.Leu1076Met) n.3677C>A | |
| 9 | g.104818837G>A | CA197383241 | ABCA1 | c.3288C>T (p.Val1096=) c.3108C>T (p.Val1036=) c.3363C>T (p.Val1121=) c.2925C>T (p.Val975=) c.3225C>T (p.Val1075=) n.3676C>T | ClinVar dbSNP |
| 9 | g.104818837G>C | CA466506054 | ABCA1 | c.3288C>G (p.Val1096=) c.3108C>G (p.Val1036=) c.3363C>G (p.Val1121=) c.2925C>G (p.Val975=) c.3225C>G (p.Val1075=) n.3676C>G | |
| 9 | g.104818837G= | CA1869947913 | ABCA1 | c.3288C= (p.Val1096=) c.3108C= (p.Val1036=) c.3363C= (p.Val1121=) c.2925C= (p.Val975=) c.3225C= (p.Val1075=) n.3676C= | |
| 9 | g.104818837G>T | CA5168471 | ABCA1 | c.3288C>A (p.Val1096=) c.3108C>A (p.Val1036=) c.3363C>A (p.Val1121=) c.2925C>A (p.Val975=) c.3225C>A (p.Val1075=) n.3676C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104818838A>C | CA374318963 | ABCA1 | c.3287T>G (p.Val1096Gly) c.3107T>G (p.Val1036Gly) c.3362T>G (p.Val1121Gly) c.2924T>G (p.Val975Gly) c.3224T>G (p.Val1075Gly) n.3675T>G | |
| 9 | g.104818838A>G | CA374318949 | ABCA1 | c.3287T>C (p.Val1096Ala) c.3107T>C (p.Val1036Ala) c.3362T>C (p.Val1121Ala) c.2924T>C (p.Val975Ala) c.3224T>C (p.Val1075Ala) n.3675T>C | |
| 9 | g.104818838A>T | CA374318945 | ABCA1 | c.3287T>A (p.Val1096Asp) c.3107T>A (p.Val1036Asp) c.3362T>A (p.Val1121Asp) c.2924T>A (p.Val975Asp) c.3224T>A (p.Val1075Asp) n.3675T>A | |
| 9 | g.104818839C>A | CA374318965 | ABCA1 | c.3286G>T (p.Val1096Phe) c.3106G>T (p.Val1036Phe) c.3361G>T (p.Val1121Phe) c.2923G>T (p.Val975Phe) c.3223G>T (p.Val1075Phe) n.3674G>T | |
| 9 | g.104818839C= | CA1869947924 | ABCA1 | c.3286G= (p.Val1096=) c.3106G= (p.Val1036=) c.3361G= (p.Val1121=) c.2923G= (p.Val975=) c.3223G= (p.Val1075=) n.3674G= | |
| 9 | g.104818839C>G | CA374318967 | ABCA1 | c.3286G>C (p.Val1096Leu) c.3106G>C (p.Val1036Leu) c.3361G>C (p.Val1121Leu) c.2923G>C (p.Val975Leu) c.3223G>C (p.Val1075Leu) n.3674G>C | |
| 9 | g.104818839C>T | CA5168472 | ABCA1 | c.3286G>A (p.Val1096Ile) c.3106G>A (p.Val1036Ile) c.3361G>A (p.Val1121Ile) c.2923G>A (p.Val975Ile) c.3223G>A (p.Val1075Ile) n.3674G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104818840G>A | CA5168473 | ABCA1 | c.3285C>T (p.Asp1095=) c.3105C>T (p.Asp1035=) c.3360C>T (p.Asp1120=) c.2922C>T (p.Asp974=) c.3222C>T (p.Asp1074=) n.3673C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104818840G>C | CA374318972 | ABCA1 | c.3285C>G (p.Asp1095Glu) c.3105C>G (p.Asp1035Glu) c.3360C>G (p.Asp1120Glu) c.2922C>G (p.Asp974Glu) c.3222C>G (p.Asp1074Glu) n.3673C>G | |
| 9 | g.104818840G= | CA1869947937 | ABCA1 | c.3285C= (p.Asp1095=) c.3105C= (p.Asp1035=) c.3360C= (p.Asp1120=) c.2922C= (p.Asp974=) c.3222C= (p.Asp1074=) n.3673C= | |
| 9 | g.104818840G>T | CA374318973 | ABCA1 | c.3285C>A (p.Asp1095Glu) c.3105C>A (p.Asp1035Glu) c.3360C>A (p.Asp1120Glu) c.2922C>A (p.Asp974Glu) c.3222C>A (p.Asp1074Glu) n.3673C>A | |
| 9 | g.104818841T>A | CA374318976 | ABCA1 | c.3284A>T (p.Asp1095Val) c.3104A>T (p.Asp1035Val) c.3359A>T (p.Asp1120Val) c.2921A>T (p.Asp974Val) c.3221A>T (p.Asp1074Val) n.3672A>T | |
| 9 | g.104818841T>C | CA374318978 | ABCA1 | c.3284A>G (p.Asp1095Gly) c.3104A>G (p.Asp1035Gly) c.3359A>G (p.Asp1120Gly) c.2921A>G (p.Asp974Gly) c.3221A>G (p.Asp1074Gly) n.3672A>G | |
| 9 | g.104818841T>G | CA374318979 | ABCA1 | c.3284A>C (p.Asp1095Ala) c.3104A>C (p.Asp1035Ala) c.3359A>C (p.Asp1120Ala) c.2921A>C (p.Asp974Ala) c.3221A>C (p.Asp1074Ala) n.3672A>C | |
| 9 | g.104818842C>A | CA374318982 | ABCA1 | c.3283G>T (p.Asp1095Tyr) c.3103G>T (p.Asp1035Tyr) c.3358G>T (p.Asp1120Tyr) c.2920G>T (p.Asp974Tyr) c.3220G>T (p.Asp1074Tyr) n.3671G>T | |
| 9 | g.104818842C>G | CA374318984 | ABCA1 | c.3283G>C (p.Asp1095His) c.3103G>C (p.Asp1035His) c.3358G>C (p.Asp1120His) c.2920G>C (p.Asp974His) c.3220G>C (p.Asp1074His) n.3671G>C | |
| 9 | g.104818842C>T | CA374318985 | ABCA1 | c.3283G>A (p.Asp1095Asn) c.3103G>A (p.Asp1035Asn) c.3358G>A (p.Asp1120Asn) c.2920G>A (p.Asp974Asn) c.3220G>A (p.Asp1074Asn) n.3671G>A | gnomAD v4 |
| 9 | g.104818843dup | CA2695203285 | ABCA1 | c.3283dup (p.Asp1095GlyfsTer?) c.3103dup (p.Asp1035GlyfsTer?) c.3358dup (p.Asp1120GlyfsTer?) c.2920dup (p.Asp974GlyfsTer?) c.3220dup (p.Asp1074GlyfsTer?) n.3671dup | |
| 9 | g.104818843C>A | CA466506055 | ABCA1 | c.3282G>T (p.Ala1094=) c.3102G>T (p.Ala1034=) c.3357G>T (p.Ala1119=) c.2919G>T (p.Ala973=) c.3219G>T (p.Ala1073=) n.3670G>T | gnomAD v4 |
| 9 | g.104818843C= | CA1869947945 | ABCA1 | c.3282G= (p.Ala1094=) c.3102G= (p.Ala1034=) c.3357G= (p.Ala1119=) c.2919G= (p.Ala973=) c.3219G= (p.Ala1073=) n.3670G= | |
| 9 | g.104818843C>G | CA466506056 | ABCA1 | c.3282G>C (p.Ala1094=) c.3102G>C (p.Ala1034=) c.3357G>C (p.Ala1119=) c.2919G>C (p.Ala973=) c.3219G>C (p.Ala1073=) n.3670G>C | |
| 9 | g.104818843C>T | CA466506057 | ABCA1 | c.3282G>A (p.Ala1094=) c.3102G>A (p.Ala1034=) c.3357G>A (p.Ala1119=) c.2919G>A (p.Ala973=) c.3219G>A (p.Ala1073=) n.3670G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104818844G>A | CA374318992 | ABCA1 | c.3281C>T (p.Ala1094Val) c.3101C>T (p.Ala1034Val) c.3356C>T (p.Ala1119Val) c.2918C>T (p.Ala973Val) c.3218C>T (p.Ala1073Val) n.3669C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |