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 |
|---|---|---|---|---|---|
| 2 | g.237371910G>A | CA147956 | COL6A3 | c.3489C>T (p.Ile1163=) c.4107C>T (p.Ile1369=) c.2286C>T (p.Ile762=) c.2886C>T (p.Ile962=) c.3507C>T (p.Ile1169=) c.1701C>T (p.Ile567=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237371910G>C | CA2188992 | COL6A3 | c.3489C>G (p.Ile1163Met) c.4107C>G (p.Ile1369Met) c.2286C>G (p.Ile762Met) c.2886C>G (p.Ile962Met) c.3507C>G (p.Ile1169Met) c.1701C>G (p.Ile567Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237371910G= | CA1337623221 | COL6A3 | c.3489C= (p.Ile1163=) c.4107C= (p.Ile1369=) c.2286C= (p.Ile762=) c.2886C= (p.Ile962=) c.3507C= (p.Ile1169=) c.1701C= (p.Ile567=) | |
| 2 | g.237371910G>T | CA431711278 | COL6A3 | c.3489C>A (p.Ile1163=) c.4107C>A (p.Ile1369=) c.2286C>A (p.Ile762=) c.2886C>A (p.Ile962=) c.3507C>A (p.Ile1169=) c.1701C>A (p.Ile567=) | |
| 2 | g.237371911A>C | CA351196982 | COL6A3 | c.3488T>G (p.Ile1163Ser) c.4106T>G (p.Ile1369Ser) c.2285T>G (p.Ile762Ser) c.2885T>G (p.Ile962Ser) c.3506T>G (p.Ile1169Ser) c.1700T>G (p.Ile567Ser) | |
| 2 | g.237371911A>G | CA351196986 | COL6A3 | c.3488T>C (p.Ile1163Thr) c.4106T>C (p.Ile1369Thr) c.2285T>C (p.Ile762Thr) c.2885T>C (p.Ile962Thr) c.3506T>C (p.Ile1169Thr) c.1700T>C (p.Ile567Thr) | |
| 2 | g.237371911A>T | CA351196984 | COL6A3 | c.3488T>A (p.Ile1163Asn) c.4106T>A (p.Ile1369Asn) c.2285T>A (p.Ile762Asn) c.2885T>A (p.Ile962Asn) c.3506T>A (p.Ile1169Asn) c.1700T>A (p.Ile567Asn) | |
| 2 | g.237371912T>A | CA351196987 | COL6A3 | c.3487A>T (p.Ile1163Phe) c.4105A>T (p.Ile1369Phe) c.2284A>T (p.Ile762Phe) c.2884A>T (p.Ile962Phe) c.3505A>T (p.Ile1169Phe) c.1699A>T (p.Ile567Phe) | |
| 2 | g.237371912T>C | CA351196988 | COL6A3 | c.3487A>G (p.Ile1163Val) c.4105A>G (p.Ile1369Val) c.2284A>G (p.Ile762Val) c.2884A>G (p.Ile962Val) c.3505A>G (p.Ile1169Val) c.1699A>G (p.Ile567Val) | |
| 2 | g.237371912T>G | CA351196989 | COL6A3 | c.3487A>C (p.Ile1163Leu) c.4105A>C (p.Ile1369Leu) c.2284A>C (p.Ile762Leu) c.2884A>C (p.Ile962Leu) c.3505A>C (p.Ile1169Leu) c.1699A>C (p.Ile567Leu) | |
| 2 | g.237371913C>A | CA431711280 | COL6A3 | c.3486G>T (p.Thr1162=) c.4104G>T (p.Thr1368=) c.2283G>T (p.Thr761=) c.2883G>T (p.Thr961=) c.3504G>T (p.Thr1168=) c.1698G>T (p.Thr566=) | dbSNP |
| 2 | g.237371913C= | CA1337623222 | COL6A3 | c.3486G= (p.Thr1162=) c.4104G= (p.Thr1368=) c.2283G= (p.Thr761=) c.2883G= (p.Thr961=) c.3504G= (p.Thr1168=) c.1698G= (p.Thr566=) | |
| 2 | g.237371913C>G | CA431711281 | COL6A3 | c.3486G>C (p.Thr1162=) c.4104G>C (p.Thr1368=) c.2283G>C (p.Thr761=) c.2883G>C (p.Thr961=) c.3504G>C (p.Thr1168=) c.1698G>C (p.Thr566=) | dbSNP |
| 2 | g.237371913C>T | CA2188993 | COL6A3 | c.3486G>A (p.Thr1162=) c.4104G>A (p.Thr1368=) c.2283G>A (p.Thr761=) c.2883G>A (p.Thr961=) c.3504G>A (p.Thr1168=) c.1698G>A (p.Thr566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237371914G>A | CA248090 | COL6A3 | c.3485C>T (p.Thr1162Met) c.4103C>T (p.Thr1368Met) c.2282C>T (p.Thr761Met) c.2882C>T (p.Thr961Met) c.3503C>T (p.Thr1168Met) c.1697C>T (p.Thr566Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.237371914G>C | CA351196996 | COL6A3 | c.3485C>G (p.Thr1162Arg) c.4103C>G (p.Thr1368Arg) c.2282C>G (p.Thr761Arg) c.2882C>G (p.Thr961Arg) c.3503C>G (p.Thr1168Arg) c.1697C>G (p.Thr566Arg) | |
| 2 | g.237371914G= | CA1337623223 | COL6A3 | c.3485C= (p.Thr1162=) c.4103C= (p.Thr1368=) c.2282C= (p.Thr761=) c.2882C= (p.Thr961=) c.3503C= (p.Thr1168=) c.1697C= (p.Thr566=) | |
| 2 | g.237371914G>T | CA351196998 | COL6A3 | c.3485C>A (p.Thr1162Lys) c.4103C>A (p.Thr1368Lys) c.2282C>A (p.Thr761Lys) c.2882C>A (p.Thr961Lys) c.3503C>A (p.Thr1168Lys) c.1697C>A (p.Thr566Lys) | gnomAD v4 |
| 2 | g.237371915T>A | CA351197000 | COL6A3 | c.3484A>T (p.Thr1162Ser) c.4102A>T (p.Thr1368Ser) c.2281A>T (p.Thr761Ser) c.2881A>T (p.Thr961Ser) c.3502A>T (p.Thr1168Ser) c.1696A>T (p.Thr566Ser) | |
| 2 | g.237371915T>C | CA351197002 | COL6A3 | c.3484A>G (p.Thr1162Ala) c.4102A>G (p.Thr1368Ala) c.2281A>G (p.Thr761Ala) c.2881A>G (p.Thr961Ala) c.3502A>G (p.Thr1168Ala) c.1696A>G (p.Thr566Ala) | |
| 2 | g.237371915T>G | CA351197003 | COL6A3 | c.3484A>C (p.Thr1162Pro) c.4102A>C (p.Thr1368Pro) c.2281A>C (p.Thr761Pro) c.2881A>C (p.Thr961Pro) c.3502A>C (p.Thr1168Pro) c.1696A>C (p.Thr566Pro) | |
| 2 | g.237371916G>A | CA431711282 | COL6A3 | c.3483C>T (p.Phe1161=) c.4101C>T (p.Phe1367=) c.2280C>T (p.Phe760=) c.2880C>T (p.Phe960=) c.3501C>T (p.Phe1167=) c.1695C>T (p.Phe565=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237371916G>C | CA351197011 | COL6A3 | c.3483C>G (p.Phe1161Leu) c.4101C>G (p.Phe1367Leu) c.2280C>G (p.Phe760Leu) c.2880C>G (p.Phe960Leu) c.3501C>G (p.Phe1167Leu) c.1695C>G (p.Phe565Leu) | |
| 2 | g.237371916G= | CA1337623224 | COL6A3 | c.3483C= (p.Phe1161=) c.4101C= (p.Phe1367=) c.2280C= (p.Phe760=) c.2880C= (p.Phe960=) c.3501C= (p.Phe1167=) c.1695C= (p.Phe565=) | |
| 2 | g.237371916G>T | CA351197016 | COL6A3 | c.3483C>A (p.Phe1161Leu) c.4101C>A (p.Phe1367Leu) c.2280C>A (p.Phe760Leu) c.2880C>A (p.Phe960Leu) c.3501C>A (p.Phe1167Leu) c.1695C>A (p.Phe565Leu) | gnomAD v4 |
| 2 | g.237371917A>C | CA351197021 | COL6A3 | c.3482T>G (p.Phe1161Cys) c.4100T>G (p.Phe1367Cys) c.2279T>G (p.Phe760Cys) c.2879T>G (p.Phe960Cys) c.3500T>G (p.Phe1167Cys) c.1694T>G (p.Phe565Cys) | |
| 2 | g.237371917A>G | CA351197020 | COL6A3 | c.3482T>C (p.Phe1161Ser) c.4100T>C (p.Phe1367Ser) c.2279T>C (p.Phe760Ser) c.2879T>C (p.Phe960Ser) c.3500T>C (p.Phe1167Ser) c.1694T>C (p.Phe565Ser) | |
| 2 | g.237371917A>T | CA351197018 | COL6A3 | c.3482T>A (p.Phe1161Tyr) c.4100T>A (p.Phe1367Tyr) c.2279T>A (p.Phe760Tyr) c.2879T>A (p.Phe960Tyr) c.3500T>A (p.Phe1167Tyr) c.1694T>A (p.Phe565Tyr) | |
| 2 | g.237371918A>C | CA351197023 | COL6A3 | c.3481T>G (p.Phe1161Val) c.4099T>G (p.Phe1367Val) c.2278T>G (p.Phe760Val) c.2878T>G (p.Phe960Val) c.3499T>G (p.Phe1167Val) c.1693T>G (p.Phe565Val) | |
| 2 | g.237371918A>G | CA351197025 | COL6A3 | c.3481T>C (p.Phe1161Leu) c.4099T>C (p.Phe1367Leu) c.2278T>C (p.Phe760Leu) c.2878T>C (p.Phe960Leu) c.3499T>C (p.Phe1167Leu) c.1693T>C (p.Phe565Leu) | |
| 2 | g.237371918A>T | CA351197024 | COL6A3 | c.3481T>A (p.Phe1161Ile) c.4099T>A (p.Phe1367Ile) c.2278T>A (p.Phe760Ile) c.2878T>A (p.Phe960Ile) c.3499T>A (p.Phe1167Ile) c.1693T>A (p.Phe565Ile) | |
| 2 | g.237371919A>C | CA431711286 | COL6A3 | c.3480T>G (p.Pro1160=) c.4098T>G (p.Pro1366=) c.2277T>G (p.Pro759=) c.2877T>G (p.Pro959=) c.3498T>G (p.Pro1166=) c.1692T>G (p.Pro564=) | |
| 2 | g.237371919A>G | CA431711287 | COL6A3 | c.3480T>C (p.Pro1160=) c.4098T>C (p.Pro1366=) c.2277T>C (p.Pro759=) c.2877T>C (p.Pro959=) c.3498T>C (p.Pro1166=) c.1692T>C (p.Pro564=) | |
| 2 | g.237371919A>T | CA431711288 | COL6A3 | c.3480T>A (p.Pro1160=) c.4098T>A (p.Pro1366=) c.2277T>A (p.Pro759=) c.2877T>A (p.Pro959=) c.3498T>A (p.Pro1166=) c.1692T>A (p.Pro564=) | |
| 2 | g.237371920G>A | CA351197027 | COL6A3 | c.3479C>T (p.Pro1160Leu) c.4097C>T (p.Pro1366Leu) c.2276C>T (p.Pro759Leu) c.2876C>T (p.Pro959Leu) c.3497C>T (p.Pro1166Leu) c.1691C>T (p.Pro564Leu) | |
| 2 | g.237371920G>C | CA2188994 | COL6A3 | c.3479C>G (p.Pro1160Arg) c.4097C>G (p.Pro1366Arg) c.2276C>G (p.Pro759Arg) c.2876C>G (p.Pro959Arg) c.3497C>G (p.Pro1166Arg) c.1691C>G (p.Pro564Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237371920G= | CA1337623225 | COL6A3 | c.3479C= (p.Pro1160=) c.4097C= (p.Pro1366=) c.2276C= (p.Pro759=) c.2876C= (p.Pro959=) c.3497C= (p.Pro1166=) c.1691C= (p.Pro564=) | |
| 2 | g.237371920G>T | CA351197028 | COL6A3 | c.3479C>A (p.Pro1160His) c.4097C>A (p.Pro1366His) c.2276C>A (p.Pro759His) c.2876C>A (p.Pro959His) c.3497C>A (p.Pro1166His) c.1691C>A (p.Pro564His) | |
| 2 | g.237371921G>A | CA351197032 | COL6A3 | c.3478C>T (p.Pro1160Ser) c.4096C>T (p.Pro1366Ser) c.2275C>T (p.Pro759Ser) c.2875C>T (p.Pro959Ser) c.3496C>T (p.Pro1166Ser) c.1690C>T (p.Pro564Ser) | |
| 2 | g.237371921G>C | CA351197034 | COL6A3 | c.3478C>G (p.Pro1160Ala) c.4096C>G (p.Pro1366Ala) c.2275C>G (p.Pro759Ala) c.2875C>G (p.Pro959Ala) c.3496C>G (p.Pro1166Ala) c.1690C>G (p.Pro564Ala) | |
| 2 | g.237371921G>T | CA351197035 | COL6A3 | c.3478C>A (p.Pro1160Thr) c.4096C>A (p.Pro1366Thr) c.2275C>A (p.Pro759Thr) c.2875C>A (p.Pro959Thr) c.3496C>A (p.Pro1166Thr) c.1690C>A (p.Pro564Thr) | |
| 2 | g.237371922G>A | CA431711292 | COL6A3 | c.3477C>T (p.Ala1159=) c.4095C>T (p.Ala1365=) c.2274C>T (p.Ala758=) c.2874C>T (p.Ala958=) c.3495C>T (p.Ala1165=) c.1689C>T (p.Ala563=) | gnomAD v4 |
| 2 | g.237371922G>C | CA431711290 | COL6A3 | c.3477C>G (p.Ala1159=) c.4095C>G (p.Ala1365=) c.2274C>G (p.Ala758=) c.2874C>G (p.Ala958=) c.3495C>G (p.Ala1165=) c.1689C>G (p.Ala563=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.237371922G>T | CA431711291 | COL6A3 | c.3477C>A (p.Ala1159=) c.4095C>A (p.Ala1365=) c.2274C>A (p.Ala758=) c.2874C>A (p.Ala958=) c.3495C>A (p.Ala1165=) c.1689C>A (p.Ala563=) | |
| 2 | g.237371923G>A | CA351197039 | COL6A3 | c.3476C>T (p.Ala1159Val) c.4094C>T (p.Ala1365Val) c.2273C>T (p.Ala758Val) c.2873C>T (p.Ala958Val) c.3494C>T (p.Ala1165Val) c.1688C>T (p.Ala563Val) | ClinVar |
| 2 | g.237371923G>C | CA351197040 | COL6A3 | c.3476C>G (p.Ala1159Gly) c.4094C>G (p.Ala1365Gly) c.2273C>G (p.Ala758Gly) c.2873C>G (p.Ala958Gly) c.3494C>G (p.Ala1165Gly) c.1688C>G (p.Ala563Gly) | |
| 2 | g.237371923G>T | CA351197042 | COL6A3 | c.3476C>A (p.Ala1159Asp) c.4094C>A (p.Ala1365Asp) c.2273C>A (p.Ala758Asp) c.2873C>A (p.Ala958Asp) c.3494C>A (p.Ala1165Asp) c.1688C>A (p.Ala563Asp) | |
| 2 | g.237371924C>A | CA351197049 | COL6A3 | c.3475G>T (p.Ala1159Ser) c.4093G>T (p.Ala1365Ser) c.2272G>T (p.Ala758Ser) c.2872G>T (p.Ala958Ser) c.3493G>T (p.Ala1165Ser) c.1687G>T (p.Ala563Ser) | gnomAD v4 |
| 2 | g.237371924C= | CA1337623226 | COL6A3 | c.3475G= (p.Ala1159=) c.4093G= (p.Ala1365=) c.2272G= (p.Ala758=) c.2872G= (p.Ala958=) c.3493G= (p.Ala1165=) c.1687G= (p.Ala563=) | |
| 2 | g.237371924C>G | CA351197047 | COL6A3 | c.3475G>C (p.Ala1159Pro) c.4093G>C (p.Ala1365Pro) c.2272G>C (p.Ala758Pro) c.2872G>C (p.Ala958Pro) c.3493G>C (p.Ala1165Pro) c.1687G>C (p.Ala563Pro) |