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 |
|---|---|---|---|---|---|
| 1 | g.230703309_230703316delinsAAAAAAAA | CA1144229232 | AGT | c.1256_1263delinsTTTTTTTT (p.Ile419=) c.*715_*722delinsTTTTTTTT (n.*715_*722delinsTTTTTTTT) n.5561_5568delinsTTTTTTTT c.1247_1254delinsTTTTTTTT (p.Ile416=) c.829+6679_829+6686delinsTTTTTTTT (n.829+6679_829+6686delinsTTTTTTTT) n.3362_3369delinsTTTTTTTT c.*750_*757delinsTTTTTTTT (n.*750_*757delinsTTTTTTTT) c.1283_1290delinsTTTTTTTT (p.Ile428=) | |
| 1 | g.230703316dup | CA1448057 | AGT | c.1263dup (p.Glu422Ter) c.*722dup (n.*722dup) n.5568dup c.1254dup (p.Glu419Ter) c.829+6686dup (n.829+6686dup) n.3369dup c.*757dup (n.*757dup) c.1290dup (p.Glu431Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230703316del | CA127789 | AGT | c.1263del (p.Phe421LeufsTer25) c.*722del (n.*722del) n.5568del c.1254del (p.Phe418LeufsTer25) c.829+6686del (n.829+6686del) n.3369del c.*757del (n.*757del) c.1290del (p.Phe430LeufsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.230703315_230703316del | CA2574012365 | AGT | c.1262_1263del (p.Phe421Ter) c.*721_*722del (n.*721_*722del) n.5567_5568del c.1253_1254del (p.Phe418Ter) c.829+6685_829+6686del (n.829+6685_829+6686del) n.3368_3369del c.*756_*757del (n.*756_*757del) c.1289_1290del (p.Phe430Ter) | |
| 1 | g.230703316A= | CA1226666643 | AGT | c.1256T= (p.Ile419=) c.*715T= (n.*715T=) n.5561T= c.1247T= (p.Ile416=) c.829+6679T= (n.829+6679T=) n.3362T= c.*750T= (n.*750T=) c.1283T= (p.Ile428=) | |
| 1 | g.230703316A>C | CA345202680 | AGT | c.1256T>G (p.Ile419Ser) c.*715T>G (n.*715T>G) n.5561T>G c.1247T>G (p.Ile416Ser) c.829+6679T>G (n.829+6679T>G) n.3362T>G c.*750T>G (n.*750T>G) c.1283T>G (p.Ile428Ser) | |
| 1 | g.230703316A>G | CA345202681 | AGT | c.1256T>C (p.Ile419Thr) c.*715T>C (n.*715T>C) n.5561T>C c.1247T>C (p.Ile416Thr) c.829+6679T>C (n.829+6679T>C) n.3362T>C c.*750T>C (n.*750T>C) c.1283T>C (p.Ile428Thr) | dbSNP gnomAD v4 |
| 1 | g.230703316A>T | CA345202683 | AGT | c.1256T>A (p.Ile419Asn) c.*715T>A (n.*715T>A) n.5561T>A c.1247T>A (p.Ile416Asn) c.829+6679T>A (n.829+6679T>A) n.3362T>A c.*750T>A (n.*750T>A) c.1283T>A (p.Ile428Asn) | |
| 1 | g.230703317T>A | CA345202686 | AGT | c.1255A>T (p.Ile419Phe) c.*714A>T (n.*714A>T) n.5560A>T c.1246A>T (p.Ile416Phe) c.829+6678A>T (n.829+6678A>T) n.3361A>T c.*749A>T (n.*749A>T) c.1282A>T (p.Ile428Phe) | |
| 1 | g.230703317T>C | CA345202688 | AGT | c.1255A>G (p.Ile419Val) c.*714A>G (n.*714A>G) n.5560A>G c.1246A>G (p.Ile416Val) c.829+6678A>G (n.829+6678A>G) n.3361A>G c.*749A>G (n.*749A>G) c.1282A>G (p.Ile428Val) | dbSNP |
| 1 | g.230703317T>G | CA345202691 | AGT | c.1255A>C (p.Ile419Leu) c.*714A>C (n.*714A>C) n.5560A>C c.1246A>C (p.Ile416Leu) c.829+6678A>C (n.829+6678A>C) n.3361A>C c.*749A>C (n.*749A>C) c.1282A>C (p.Ile428Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230703317T= | CA1226666644 | AGT | c.1255A= (p.Ile419=) c.*714A= (n.*714A=) n.5560A= c.1246A= (p.Ile416=) c.829+6678A= (n.829+6678A=) n.3361A= c.*749A= (n.*749A=) c.1282A= (p.Ile428=) | |
| 1 | g.230703318G>A | CA423882845 | AGT | c.1254C>T (p.Ser418=) c.*713C>T (n.*713C>T) n.5559C>T c.1245C>T (p.Ser415=) c.829+6677C>T (n.829+6677C>T) n.3360C>T c.*748C>T (n.*748C>T) c.1281C>T (p.Ser427=) | |
| 1 | g.230703318G>C | CA345202694 | AGT | c.1254C>G (p.Ser418Arg) c.*713C>G (n.*713C>G) n.5559C>G c.1245C>G (p.Ser415Arg) c.829+6677C>G (n.829+6677C>G) n.3360C>G c.*748C>G (n.*748C>G) c.1281C>G (p.Ser427Arg) | |
| 1 | g.230703318G>T | CA345202696 | AGT | c.1254C>A (p.Ser418Arg) c.*713C>A (n.*713C>A) n.5559C>A c.1245C>A (p.Ser415Arg) c.829+6677C>A (n.829+6677C>A) n.3360C>A c.*748C>A (n.*748C>A) c.1281C>A (p.Ser427Arg) | |
| 1 | g.230703319C>A | CA345202699 | AGT | c.1253G>T (p.Ser418Ile) c.*712G>T (n.*712G>T) n.5558G>T c.1244G>T (p.Ser415Ile) c.829+6676G>T (n.829+6676G>T) n.3359G>T c.*747G>T (n.*747G>T) c.1280G>T (p.Ser427Ile) | dbSNP |
| 1 | g.230703319C= | CA1226666645 | AGT | c.1253G= (p.Ser418=) c.*712G= (n.*712G=) n.5558G= c.1244G= (p.Ser415=) c.829+6676G= (n.829+6676G=) n.3359G= c.*747G= (n.*747G=) c.1280G= (p.Ser427=) | |
| 1 | g.230703319C>G | CA345202700 | AGT | c.1253G>C (p.Ser418Thr) c.*712G>C (n.*712G>C) n.5558G>C c.1244G>C (p.Ser415Thr) c.829+6676G>C (n.829+6676G>C) n.3359G>C c.*747G>C (n.*747G>C) c.1280G>C (p.Ser427Thr) | |
| 1 | g.230703319C>T | CA345202703 | AGT | c.1253G>A (p.Ser418Asn) c.*712G>A (n.*712G>A) n.5558G>A c.1244G>A (p.Ser415Asn) c.829+6676G>A (n.829+6676G>A) n.3359G>A c.*747G>A (n.*747G>A) c.1280G>A (p.Ser427Asn) | COSMIC |
| 1 | g.230703320T>A | CA345202711 | AGT | c.1252A>T (p.Ser418Cys) c.*711A>T (n.*711A>T) n.5557A>T c.1243A>T (p.Ser415Cys) c.829+6675A>T (n.829+6675A>T) n.3358A>T c.*746A>T (n.*746A>T) c.1279A>T (p.Ser427Cys) | gnomAD v4 |
| 1 | g.230703320T>C | CA345202706 | AGT | c.1252A>G (p.Ser418Gly) c.*711A>G (n.*711A>G) n.5557A>G c.1243A>G (p.Ser415Gly) c.829+6675A>G (n.829+6675A>G) n.3358A>G c.*746A>G (n.*746A>G) c.1279A>G (p.Ser427Gly) | gnomAD v4 |
| 1 | g.230703320T>G | CA345202708 | AGT | c.1252A>C (p.Ser418Arg) c.*711A>C (n.*711A>C) n.5557A>C c.1243A>C (p.Ser415Arg) c.829+6675A>C (n.829+6675A>C) n.3358A>C c.*746A>C (n.*746A>C) c.1279A>C (p.Ser427Arg) | |
| 1 | g.230703321G>A | CA38865691 | AGT | c.1251C>T (p.Asn417=) c.*710C>T (n.*710C>T) n.5556C>T c.1242C>T (p.Asn414=) c.829+6674C>T (n.829+6674C>T) n.3357C>T c.*745C>T (n.*745C>T) c.1278C>T (p.Asn426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230703321G>C | CA345202714 | AGT | c.1251C>G (p.Asn417Lys) c.*710C>G (n.*710C>G) n.5556C>G c.1242C>G (p.Asn414Lys) c.829+6674C>G (n.829+6674C>G) n.3357C>G c.*745C>G (n.*745C>G) c.1278C>G (p.Asn426Lys) | |
| 1 | g.230703321G= | CA1226666646 | AGT | c.1251C= (p.Asn417=) c.*710C= (n.*710C=) n.5556C= c.1242C= (p.Asn414=) c.829+6674C= (n.829+6674C=) n.3357C= c.*745C= (n.*745C=) c.1278C= (p.Asn426=) | |
| 1 | g.230703321G>T | CA345202716 | AGT | c.1251C>A (p.Asn417Lys) c.*710C>A (n.*710C>A) n.5556C>A c.1242C>A (p.Asn414Lys) c.829+6674C>A (n.829+6674C>A) n.3357C>A c.*745C>A (n.*745C>A) c.1278C>A (p.Asn426Lys) | |
| 1 | g.230703322T>A | CA345202718 | AGT | c.1250A>T (p.Asn417Ile) c.*709A>T (n.*709A>T) n.5555A>T c.1241A>T (p.Asn414Ile) c.829+6673A>T (n.829+6673A>T) n.3356A>T c.*744A>T (n.*744A>T) c.1277A>T (p.Asn426Ile) | |
| 1 | g.230703322T>C | CA345202719 | AGT | c.1250A>G (p.Asn417Ser) c.*709A>G (n.*709A>G) n.5555A>G c.1241A>G (p.Asn414Ser) c.829+6673A>G (n.829+6673A>G) n.3356A>G c.*744A>G (n.*744A>G) c.1277A>G (p.Asn426Ser) | COSMIC |
| 1 | g.230703322T>G | CA345202722 | AGT | c.1250A>C (p.Asn417Thr) c.*709A>C (n.*709A>C) n.5555A>C c.1241A>C (p.Asn414Thr) c.829+6673A>C (n.829+6673A>C) n.3356A>C c.*744A>C (n.*744A>C) c.1277A>C (p.Asn426Thr) | |
| 1 | g.230703323T>A | CA345202725 | AGT | c.1249A>T (p.Asn417Tyr) c.*708A>T (n.*708A>T) n.5554A>T c.1240A>T (p.Asn414Tyr) c.829+6672A>T (n.829+6672A>T) n.3355A>T c.*743A>T (n.*743A>T) c.1276A>T (p.Asn426Tyr) | |
| 1 | g.230703323T>C | CA345202727 | AGT | c.1249A>G (p.Asn417Asp) c.*708A>G (n.*708A>G) n.5554A>G c.1240A>G (p.Asn414Asp) c.829+6672A>G (n.829+6672A>G) n.3355A>G c.*743A>G (n.*743A>G) c.1276A>G (p.Asn426Asp) | |
| 1 | g.230703323T>G | CA345202730 | AGT | c.1249A>C (p.Asn417His) c.*708A>C (n.*708A>C) n.5554A>C c.1240A>C (p.Asn414His) c.829+6672A>C (n.829+6672A>C) n.3355A>C c.*743A>C (n.*743A>C) c.1276A>C (p.Asn426His) | |
| 1 | g.230703324C>A | CA423882864 | AGT | c.1248G>T (p.Leu416=) c.*707G>T (n.*707G>T) n.5553G>T c.1239G>T (p.Leu413=) c.829+6671G>T (n.829+6671G>T) n.3354G>T c.*742G>T (n.*742G>T) c.1275G>T (p.Leu425=) | |
| 1 | g.230703324C= | CA1226666647 | AGT | c.1248G= (p.Leu416=) c.*707G= (n.*707G=) n.5553G= c.1239G= (p.Leu413=) c.829+6671G= (n.829+6671G=) n.3354G= c.*742G= (n.*742G=) c.1275G= (p.Leu425=) | |
| 1 | g.230703324C>G | CA423882866 | AGT | c.1248G>C (p.Leu416=) c.*707G>C (n.*707G>C) n.5553G>C c.1239G>C (p.Leu413=) c.829+6671G>C (n.829+6671G>C) n.3354G>C c.*742G>C (n.*742G>C) c.1275G>C (p.Leu425=) | |
| 1 | g.230703324C>T | CA1448059 | AGT | c.1248G>A (p.Leu416=) c.*707G>A (n.*707G>A) n.5553G>A c.1239G>A (p.Leu413=) c.829+6671G>A (n.829+6671G>A) n.3354G>A c.*742G>A (n.*742G>A) c.1275G>A (p.Leu425=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230703325A= | CA1148271384 | AGT | c.1247T= (p.Leu416=) c.*706T= (n.*706T=) n.5552T= c.1238T= (p.Leu413=) c.829+6670T= (n.829+6670T=) n.3353T= c.*741T= (n.*741T=) c.1274T= (p.Leu425=) | |
| 1 | g.230703325A>C | CA345202733 | AGT | c.1247T>G (p.Leu416Arg) c.*706T>G (n.*706T>G) n.5552T>G c.1238T>G (p.Leu413Arg) c.829+6670T>G (n.829+6670T>G) n.3353T>G c.*741T>G (n.*741T>G) c.1274T>G (p.Leu425Arg) | |
| 1 | g.230703325A>G | CA38865692 | AGT | c.1247T>C (p.Leu416Pro) c.*706T>C (n.*706T>C) n.5552T>C c.1238T>C (p.Leu413Pro) c.829+6670T>C (n.829+6670T>C) n.3353T>C c.*741T>C (n.*741T>C) c.1274T>C (p.Leu425Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230703325A>T | CA345202737 | AGT | c.1247T>A (p.Leu416Gln) c.*706T>A (n.*706T>A) n.5552T>A c.1238T>A (p.Leu413Gln) c.829+6670T>A (n.829+6670T>A) n.3353T>A c.*741T>A (n.*741T>A) c.1274T>A (p.Leu425Gln) | |
| 1 | g.230703326G>A | CA423882870 | AGT | c.1246C>T (p.Leu416=) c.*705C>T (n.*705C>T) n.5551C>T c.1237C>T (p.Leu413=) c.829+6669C>T (n.829+6669C>T) n.3352C>T c.*740C>T (n.*740C>T) c.1273C>T (p.Leu425=) | |
| 1 | g.230703326G>C | CA345202742 | AGT | c.1246C>G (p.Leu416Val) c.*705C>G (n.*705C>G) n.5551C>G c.1237C>G (p.Leu413Val) c.829+6669C>G (n.829+6669C>G) n.3352C>G c.*740C>G (n.*740C>G) c.1273C>G (p.Leu425Val) | gnomAD v4 |
| 1 | g.230703326G>T | CA345202740 | AGT | c.1246C>A (p.Leu416Met) c.*705C>A (n.*705C>A) n.5551C>A c.1237C>A (p.Leu413Met) c.829+6669C>A (n.829+6669C>A) n.3352C>A c.*740C>A (n.*740C>A) c.1273C>A (p.Leu425Met) | |
| 1 | g.230703327C>A | CA423882875 | AGT | c.1245G>T (p.Val415=) c.*704G>T (n.*704G>T) n.5550G>T c.1236G>T (p.Val412=) c.829+6668G>T (n.829+6668G>T) n.3351G>T c.*739G>T (n.*739G>T) c.1272G>T (p.Val424=) | |
| 1 | g.230703327C>G | CA423882876 | AGT | c.1245G>C (p.Val415=) c.*704G>C (n.*704G>C) n.5550G>C c.1236G>C (p.Val412=) c.829+6668G>C (n.829+6668G>C) n.3351G>C c.*739G>C (n.*739G>C) c.1272G>C (p.Val424=) | |
| 1 | g.230703327C>T | CA423882878 | AGT | c.1245G>A (p.Val415=) c.*704G>A (n.*704G>A) n.5550G>A c.1236G>A (p.Val412=) c.829+6668G>A (n.829+6668G>A) n.3351G>A c.*739G>A (n.*739G>A) c.1272G>A (p.Val424=) | |
| 1 | g.230703328A>C | CA345202746 | AGT | c.1244T>G (p.Val415Gly) c.*703T>G (n.*703T>G) n.5549T>G c.1235T>G (p.Val412Gly) c.829+6667T>G (n.829+6667T>G) n.3350T>G c.*738T>G (n.*738T>G) c.1271T>G (p.Val424Gly) | |
| 1 | g.230703328A>G | CA345202750 | AGT | c.1244T>C (p.Val415Ala) c.*703T>C (n.*703T>C) n.5549T>C c.1235T>C (p.Val412Ala) c.829+6667T>C (n.829+6667T>C) n.3350T>C c.*738T>C (n.*738T>C) c.1271T>C (p.Val424Ala) | COSMIC |
| 1 | g.230703328A>T | CA345202748 | AGT | c.1244T>A (p.Val415Glu) c.*703T>A (n.*703T>A) n.5549T>A c.1235T>A (p.Val412Glu) c.829+6667T>A (n.829+6667T>A) n.3350T>A c.*738T>A (n.*738T>A) c.1271T>A (p.Val424Glu) | |
| 1 | g.230703329C>A | CA345202752 | AGT | c.1243G>T (p.Val415Leu) c.*702G>T (n.*702G>T) n.5548G>T c.1234G>T (p.Val412Leu) c.829+6666G>T (n.829+6666G>T) n.3349G>T c.*737G>T (n.*737G>T) c.1270G>T (p.Val424Leu) | COSMIC |