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 |
|---|---|---|---|---|---|
| 3 | g.38712240G>A | CA352150815 | SCN10A | c.4010C>T (p.Ser1337Phe) c.4007C>T (p.Ser1336Phe) c.4034C>T (p.Ser1345Phe) c.3716C>T (p.Ser1239Phe) c.4019C>T (p.Ser1340Phe) c.4016C>T (p.Ser1339Phe) c.3725C>T (p.Ser1242Phe) | |
| 3 | g.38712240G>C | CA352150817 | SCN10A | c.4010C>G (p.Ser1337Cys) c.4007C>G (p.Ser1336Cys) c.4034C>G (p.Ser1345Cys) c.3716C>G (p.Ser1239Cys) c.4019C>G (p.Ser1340Cys) c.4016C>G (p.Ser1339Cys) c.3725C>G (p.Ser1242Cys) | |
| 3 | g.38712240G>T | CA352150820 | SCN10A | c.4010C>A (p.Ser1337Tyr) c.4007C>A (p.Ser1336Tyr) c.4034C>A (p.Ser1345Tyr) c.3716C>A (p.Ser1239Tyr) c.4019C>A (p.Ser1340Tyr) c.4016C>A (p.Ser1339Tyr) c.3725C>A (p.Ser1242Tyr) | |
| 3 | g.38712241A= | CA1358635407 | SCN10A | c.4009T= (p.Ser1337=) c.4006T= (p.Ser1336=) c.4033T= (p.Ser1345=) c.3715T= (p.Ser1239=) c.4018T= (p.Ser1340=) c.4015T= (p.Ser1339=) c.3724T= (p.Ser1242=) | |
| 3 | g.38712241A>C | CA352150822 | SCN10A | c.4009T>G (p.Ser1337Ala) c.4006T>G (p.Ser1336Ala) c.4033T>G (p.Ser1345Ala) c.3715T>G (p.Ser1239Ala) c.4018T>G (p.Ser1340Ala) c.4015T>G (p.Ser1339Ala) c.3724T>G (p.Ser1242Ala) | gnomAD v4 |
| 3 | g.38712241A>G | CA352150824 | SCN10A | c.4009T>C (p.Ser1337Pro) c.4006T>C (p.Ser1336Pro) c.4033T>C (p.Ser1345Pro) c.3715T>C (p.Ser1239Pro) c.4018T>C (p.Ser1340Pro) c.4015T>C (p.Ser1339Pro) c.3724T>C (p.Ser1242Pro) | |
| 3 | g.38712241A>T | CA2320055 | SCN10A | c.4009T>A (p.Ser1337Thr) c.4006T>A (p.Ser1336Thr) c.4033T>A (p.Ser1345Thr) c.3715T>A (p.Ser1239Thr) c.4018T>A (p.Ser1340Thr) c.4015T>A (p.Ser1339Thr) c.3724T>A (p.Ser1242Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38712242G>A | CA72950446 | SCN10A | c.4008C>T (p.Asn1336=) c.4005C>T (p.Asn1335=) c.4032C>T (p.Asn1344=) c.3714C>T (p.Asn1238=) c.4017C>T (p.Asn1339=) c.4014C>T (p.Asn1338=) c.3723C>T (p.Asn1241=) | dbSNP gnomAD v4 |
| 3 | g.38712242G>C | CA352150828 | SCN10A | c.4008C>G (p.Asn1336Lys) c.4005C>G (p.Asn1335Lys) c.4032C>G (p.Asn1344Lys) c.3714C>G (p.Asn1238Lys) c.4017C>G (p.Asn1339Lys) c.4014C>G (p.Asn1338Lys) c.3723C>G (p.Asn1241Lys) | |
| 3 | g.38712242G= | CA1358635409 | SCN10A | c.4008C= (p.Asn1336=) c.4005C= (p.Asn1335=) c.4032C= (p.Asn1344=) c.3714C= (p.Asn1238=) c.4017C= (p.Asn1339=) c.4014C= (p.Asn1338=) c.3723C= (p.Asn1241=) | |
| 3 | g.38712242G>T | CA352150830 | SCN10A | c.4008C>A (p.Asn1336Lys) c.4005C>A (p.Asn1335Lys) c.4032C>A (p.Asn1344Lys) c.3714C>A (p.Asn1238Lys) c.4017C>A (p.Asn1339Lys) c.4014C>A (p.Asn1338Lys) c.3723C>A (p.Asn1241Lys) | |
| 3 | g.38712243T>A | CA352150836 | SCN10A | c.4007A>T (p.Asn1336Ile) c.4004A>T (p.Asn1335Ile) c.4031A>T (p.Asn1344Ile) c.3713A>T (p.Asn1238Ile) c.4016A>T (p.Asn1339Ile) c.4013A>T (p.Asn1338Ile) c.3722A>T (p.Asn1241Ile) | |
| 3 | g.38712243T>C | CA352150838 | SCN10A | c.4007A>G (p.Asn1336Ser) c.4004A>G (p.Asn1335Ser) c.4031A>G (p.Asn1344Ser) c.3713A>G (p.Asn1238Ser) c.4016A>G (p.Asn1339Ser) c.4013A>G (p.Asn1338Ser) c.3722A>G (p.Asn1241Ser) | |
| 3 | g.38712243T>G | CA352150833 | SCN10A | c.4007A>C (p.Asn1336Thr) c.4004A>C (p.Asn1335Thr) c.4031A>C (p.Asn1344Thr) c.3713A>C (p.Asn1238Thr) c.4016A>C (p.Asn1339Thr) c.4013A>C (p.Asn1338Thr) c.3722A>C (p.Asn1241Thr) | |
| 3 | g.38712244T>A | CA352150841 | SCN10A | c.4006A>T (p.Asn1336Tyr) c.4003A>T (p.Asn1335Tyr) c.4030A>T (p.Asn1344Tyr) c.3712A>T (p.Asn1238Tyr) c.4015A>T (p.Asn1339Tyr) c.4012A>T (p.Asn1338Tyr) c.3721A>T (p.Asn1241Tyr) | |
| 3 | g.38712244T>C | CA352150843 | SCN10A | c.4006A>G (p.Asn1336Asp) c.4003A>G (p.Asn1335Asp) c.4030A>G (p.Asn1344Asp) c.3712A>G (p.Asn1238Asp) c.4015A>G (p.Asn1339Asp) c.4012A>G (p.Asn1338Asp) c.3721A>G (p.Asn1241Asp) | |
| 3 | g.38712244T>G | CA352150845 | SCN10A | c.4006A>C (p.Asn1336His) c.4003A>C (p.Asn1335His) c.4030A>C (p.Asn1344His) c.3712A>C (p.Asn1238His) c.4015A>C (p.Asn1339His) c.4012A>C (p.Asn1338His) c.3721A>C (p.Asn1241His) | |
| 3 | g.38712245T>A | CA352150848 | SCN10A | c.4005A>T (p.Gln1335His) c.4002A>T (p.Gln1334His) c.4029A>T (p.Gln1343His) c.3711A>T (p.Gln1237His) c.4014A>T (p.Gln1338His) c.4011A>T (p.Gln1337His) c.3720A>T (p.Gln1240His) | |
| 3 | g.38712245T>C | CA433333859 | SCN10A | c.4005A>G (p.Gln1335=) c.4002A>G (p.Gln1334=) c.4029A>G (p.Gln1343=) c.3711A>G (p.Gln1237=) c.4014A>G (p.Gln1338=) c.4011A>G (p.Gln1337=) c.3720A>G (p.Gln1240=) | |
| 3 | g.38712245T>G | CA352150849 | SCN10A | c.4005A>C (p.Gln1335His) c.4002A>C (p.Gln1334His) c.4029A>C (p.Gln1343His) c.3711A>C (p.Gln1237His) c.4014A>C (p.Gln1338His) c.4011A>C (p.Gln1337His) c.3720A>C (p.Gln1240His) | |
| 3 | g.38712246T>A | CA352150856 | SCN10A | c.4004A>T (p.Gln1335Leu) c.4001A>T (p.Gln1334Leu) c.4028A>T (p.Gln1343Leu) c.3710A>T (p.Gln1237Leu) c.4013A>T (p.Gln1338Leu) c.4010A>T (p.Gln1337Leu) c.3719A>T (p.Gln1240Leu) | |
| 3 | g.38712246T>C | CA352150854 | SCN10A | c.4004A>G (p.Gln1335Arg) c.4001A>G (p.Gln1334Arg) c.4028A>G (p.Gln1343Arg) c.3710A>G (p.Gln1237Arg) c.4013A>G (p.Gln1338Arg) c.4010A>G (p.Gln1337Arg) c.3719A>G (p.Gln1240Arg) | dbSNP gnomAD v4 |
| 3 | g.38712246T>G | CA352150852 | SCN10A | c.4004A>C (p.Gln1335Pro) c.4001A>C (p.Gln1334Pro) c.4028A>C (p.Gln1343Pro) c.3710A>C (p.Gln1237Pro) c.4013A>C (p.Gln1338Pro) c.4010A>C (p.Gln1337Pro) c.3719A>C (p.Gln1240Pro) | |
| 3 | g.38712246T= | CA1358635411 | SCN10A | c.4004A= (p.Gln1335=) c.4001A= (p.Gln1334=) c.4028A= (p.Gln1343=) c.3710A= (p.Gln1237=) c.4013A= (p.Gln1338=) c.4010A= (p.Gln1337=) c.3719A= (p.Gln1240=) | |
| 3 | g.38712247G>A | CA352150859 | SCN10A | c.4003C>T (p.Gln1335Ter) c.4000C>T (p.Gln1334Ter) c.4027C>T (p.Gln1343Ter) c.3709C>T (p.Gln1237Ter) c.4012C>T (p.Gln1338Ter) c.4009C>T (p.Gln1337Ter) c.3718C>T (p.Gln1240Ter) | gnomAD v4 |
| 3 | g.38712247G>C | CA352150861 | SCN10A | c.4003C>G (p.Gln1335Glu) c.4000C>G (p.Gln1334Glu) c.4027C>G (p.Gln1343Glu) c.3709C>G (p.Gln1237Glu) c.4012C>G (p.Gln1338Glu) c.4009C>G (p.Gln1337Glu) c.3718C>G (p.Gln1240Glu) | |
| 3 | g.38712247G>T | CA352150863 | SCN10A | c.4003C>A (p.Gln1335Lys) c.4000C>A (p.Gln1334Lys) c.4027C>A (p.Gln1343Lys) c.3709C>A (p.Gln1237Lys) c.4012C>A (p.Gln1338Lys) c.4009C>A (p.Gln1337Lys) c.3718C>A (p.Gln1240Lys) | |
| 3 | g.38712248A>C | CA352150865 | SCN10A | c.4002T>G (p.Ile1334Met) c.3999T>G (p.Ile1333Met) c.4026T>G (p.Ile1342Met) c.3708T>G (p.Ile1236Met) c.4011T>G (p.Ile1337Met) c.4008T>G (p.Ile1336Met) c.3717T>G (p.Ile1239Met) | |
| 3 | g.38712248A>G | CA433333862 | SCN10A | c.4002T>C (p.Ile1334=) c.3999T>C (p.Ile1333=) c.4026T>C (p.Ile1342=) c.3708T>C (p.Ile1236=) c.4011T>C (p.Ile1337=) c.4008T>C (p.Ile1336=) c.3717T>C (p.Ile1239=) | |
| 3 | g.38712248A>T | CA433333863 | SCN10A | c.4002T>A (p.Ile1334=) c.3999T>A (p.Ile1333=) c.4026T>A (p.Ile1342=) c.3708T>A (p.Ile1236=) c.4011T>A (p.Ile1337=) c.4008T>A (p.Ile1336=) c.3717T>A (p.Ile1239=) | |
| 3 | g.38712249A= | CA1358635413 | SCN10A | c.4001T= (p.Ile1334=) c.3998T= (p.Ile1333=) c.4025T= (p.Ile1342=) c.3707T= (p.Ile1236=) c.4010T= (p.Ile1337=) c.4007T= (p.Ile1336=) c.3716T= (p.Ile1239=) | |
| 3 | g.38712249A>C | CA352150868 | SCN10A | c.4001T>G (p.Ile1334Ser) c.3998T>G (p.Ile1333Ser) c.4025T>G (p.Ile1342Ser) c.3707T>G (p.Ile1236Ser) c.4010T>G (p.Ile1337Ser) c.4007T>G (p.Ile1336Ser) c.3716T>G (p.Ile1239Ser) | |
| 3 | g.38712249A>G | CA352150870 | SCN10A | c.4001T>C (p.Ile1334Thr) c.3998T>C (p.Ile1333Thr) c.4025T>C (p.Ile1342Thr) c.3707T>C (p.Ile1236Thr) c.4010T>C (p.Ile1337Thr) c.4007T>C (p.Ile1336Thr) c.3716T>C (p.Ile1239Thr) | dbSNP gnomAD v4 |
| 3 | g.38712249A>T | CA352150871 | SCN10A | c.4001T>A (p.Ile1334Asn) c.3998T>A (p.Ile1333Asn) c.4025T>A (p.Ile1342Asn) c.3707T>A (p.Ile1236Asn) c.4010T>A (p.Ile1337Asn) c.4007T>A (p.Ile1336Asn) c.3716T>A (p.Ile1239Asn) | |
| 3 | g.38712249_38712250del | CA2513592933 | SCN10A | c.4000_4001del (p.Ile1334SerfsTer17) c.3997_3998del (p.Ile1333SerfsTer17) c.4024_4025del (p.Ile1342SerfsTer17) c.3706_3707del (p.Ile1236SerfsTer17) c.4009_4010del (p.Ile1337SerfsTer17) c.4006_4007del (p.Ile1336SerfsTer17) c.3715_3716del (p.Ile1239SerfsTer17) | |
| 3 | g.38712250T>A | CA352150876 | SCN10A | c.4000A>T (p.Ile1334Phe) c.3997A>T (p.Ile1333Phe) c.4024A>T (p.Ile1342Phe) c.3706A>T (p.Ile1236Phe) c.4009A>T (p.Ile1337Phe) c.4006A>T (p.Ile1336Phe) c.3715A>T (p.Ile1239Phe) | |
| 3 | g.38712250T>C | CA352150877 | SCN10A | c.4000A>G (p.Ile1334Val) c.3997A>G (p.Ile1333Val) c.4024A>G (p.Ile1342Val) c.3706A>G (p.Ile1236Val) c.4009A>G (p.Ile1337Val) c.4006A>G (p.Ile1336Val) c.3715A>G (p.Ile1239Val) | gnomAD v4 |
| 3 | g.38712250T>G | CA352150874 | SCN10A | c.4000A>C (p.Ile1334Leu) c.3997A>C (p.Ile1333Leu) c.4024A>C (p.Ile1342Leu) c.3706A>C (p.Ile1236Leu) c.4009A>C (p.Ile1337Leu) c.4006A>C (p.Ile1336Leu) c.3715A>C (p.Ile1239Leu) | |
| 3 | g.38712251C>A | CA352150882 | SCN10A | c.3999G>T (p.Lys1333Asn) c.3996G>T (p.Lys1332Asn) c.4023G>T (p.Lys1341Asn) c.3705G>T (p.Lys1235Asn) c.4008G>T (p.Lys1336Asn) c.4005G>T (p.Lys1335Asn) c.3714G>T (p.Lys1238Asn) | |
| 3 | g.38712251C= | CA1358635416 | SCN10A | c.3999G= (p.Lys1333=) c.3996G= (p.Lys1332=) c.4023G= (p.Lys1341=) c.3705G= (p.Lys1235=) c.4008G= (p.Lys1336=) c.4005G= (p.Lys1335=) c.3714G= (p.Lys1238=) | |
| 3 | g.38712251C>G | CA352150880 | SCN10A | c.3999G>C (p.Lys1333Asn) c.3996G>C (p.Lys1332Asn) c.4023G>C (p.Lys1341Asn) c.3705G>C (p.Lys1235Asn) c.4008G>C (p.Lys1336Asn) c.4005G>C (p.Lys1335Asn) c.3714G>C (p.Lys1238Asn) | |
| 3 | g.38712251C>T | CA433333865 | SCN10A | c.3999G>A (p.Lys1333=) c.3996G>A (p.Lys1332=) c.4023G>A (p.Lys1341=) c.3705G>A (p.Lys1235=) c.4008G>A (p.Lys1336=) c.4005G>A (p.Lys1335=) c.3714G>A (p.Lys1238=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38712251_38712252insG | CA2567457461 | SCN10A | c.3998_3999insC (p.Lys1333AsnfsTer19) c.3995_3996insC (p.Lys1332AsnfsTer19) c.4022_4023insC (p.Lys1341AsnfsTer19) c.3704_3705insC (p.Lys1235AsnfsTer19) c.4007_4008insC (p.Lys1336AsnfsTer19) c.4004_4005insC (p.Lys1335AsnfsTer19) c.3713_3714insC (p.Lys1238AsnfsTer19) | |
| 3 | g.38712252T>A | CA2320056 | SCN10A | c.3998A>T (p.Lys1333Met) c.3995A>T (p.Lys1332Met) c.4022A>T (p.Lys1341Met) c.3704A>T (p.Lys1235Met) c.4007A>T (p.Lys1336Met) c.4004A>T (p.Lys1335Met) c.3713A>T (p.Lys1238Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38712252T>C | CA352150885 | SCN10A | c.3998A>G (p.Lys1333Arg) c.3995A>G (p.Lys1332Arg) c.4022A>G (p.Lys1341Arg) c.3704A>G (p.Lys1235Arg) c.4007A>G (p.Lys1336Arg) c.4004A>G (p.Lys1335Arg) c.3713A>G (p.Lys1238Arg) | |
| 3 | g.38712252T>G | CA352150887 | SCN10A | c.3998A>C (p.Lys1333Thr) c.3995A>C (p.Lys1332Thr) c.4022A>C (p.Lys1341Thr) c.3704A>C (p.Lys1235Thr) c.4007A>C (p.Lys1336Thr) c.4004A>C (p.Lys1335Thr) c.3713A>C (p.Lys1238Thr) | |
| 3 | g.38712252T= | CA1358635420 | SCN10A | c.3998A= (p.Lys1333=) c.3995A= (p.Lys1332=) c.4022A= (p.Lys1341=) c.3704A= (p.Lys1235=) c.4007A= (p.Lys1336=) c.4004A= (p.Lys1335=) c.3713A= (p.Lys1238=) | |
| 3 | g.38712253T>A | CA352150890 | SCN10A | c.3997A>T (p.Lys1333Ter) c.3994A>T (p.Lys1332Ter) c.4021A>T (p.Lys1341Ter) c.3703A>T (p.Lys1235Ter) c.4006A>T (p.Lys1336Ter) c.4003A>T (p.Lys1335Ter) c.3712A>T (p.Lys1238Ter) | |
| 3 | g.38712253T>C | CA352150892 | SCN10A | c.3997A>G (p.Lys1333Glu) c.3994A>G (p.Lys1332Glu) c.4021A>G (p.Lys1341Glu) c.3703A>G (p.Lys1235Glu) c.4006A>G (p.Lys1336Glu) c.4003A>G (p.Lys1335Glu) c.3712A>G (p.Lys1238Glu) | gnomAD v4 |
| 3 | g.38712253T>G | CA352150894 | SCN10A | c.3997A>C (p.Lys1333Gln) c.3994A>C (p.Lys1332Gln) c.4021A>C (p.Lys1341Gln) c.3703A>C (p.Lys1235Gln) c.4006A>C (p.Lys1336Gln) c.4003A>C (p.Lys1335Gln) c.3712A>C (p.Lys1238Gln) |