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.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
| 2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
| 2 | g.189005611_189008365del | CA913190217 | COL3A1 | c.2940+154_3426+223del c.3039+154_3525+223del c.2528-2443_2616+223del | ClinVar |
| 2 | g.189006079_189007097del | CA913190218 | COL3A1 | c.2941-127_3156+107del c.3040-127_3255+107del c.2528-1975_2528-957del (n.2528-1975_2528-957del) | ClinVar |
| 2 | g.189006354G>A | CA349845022 | COL3A1 | c.3004G>A (p.Gly1002Ser) c.3103G>A (p.Gly1035Ser) c.2528-1700G>A (n.2528-1700G>A) | ClinVar dbSNP |
| 2 | g.189006354G>C | CA349845023 | COL3A1 | c.3004G>C (p.Gly1002Arg) c.3103G>C (p.Gly1035Arg) c.2528-1700G>C (n.2528-1700G>C) | |
| 2 | g.189006354G= | CA1315404084 | COL3A1 | c.3004G= (p.Gly1002=) c.3103G= (p.Gly1035=) c.2528-1700G= (n.2528-1700G=) | |
| 2 | g.189006354G>T | CA006103 | COL3A1 | c.3004G>T (p.Gly1002Cys) c.3103G>T (p.Gly1035Cys) c.2528-1700G>T (n.2528-1700G>T) | ClinVar dbSNP |
| 2 | g.189006355G>A | CA349845024 | COL3A1 | c.3005G>A (p.Gly1002Asp) c.3104G>A (p.Gly1035Asp) c.2528-1699G>A (n.2528-1699G>A) | |
| 2 | g.189006355G>C | CA349845025 | COL3A1 | c.3005G>C (p.Gly1002Ala) c.3104G>C (p.Gly1035Ala) c.2528-1699G>C (n.2528-1699G>C) | |
| 2 | g.189006355G= | CA1315404085 | COL3A1 | c.3005G= (p.Gly1002=) c.3104G= (p.Gly1035=) c.2528-1699G= (n.2528-1699G=) | |
| 2 | g.189006355G>T | CA006109 | COL3A1 | c.3005G>T (p.Gly1002Val) c.3104G>T (p.Gly1035Val) c.2528-1699G>T (n.2528-1699G>T) | ClinVar dbSNP |
| 2 | g.189006356T>A | CA430312771 | COL3A1 | c.3006T>A (p.Gly1002=) c.3105T>A (p.Gly1035=) c.2528-1698T>A (n.2528-1698T>A) | |
| 2 | g.189006356T>C | CA430312772 | COL3A1 | c.3006T>C (p.Gly1002=) c.3105T>C (p.Gly1035=) c.2528-1698T>C (n.2528-1698T>C) | |
| 2 | g.189006356T>G | CA430312773 | COL3A1 | c.3006T>G (p.Gly1002=) c.3105T>G (p.Gly1035=) c.2528-1698T>G (n.2528-1698T>G) | |
| 2 | g.189006357G>A | CA349845026 | COL3A1 | c.3007G>A (p.Glu1003Lys) c.3106G>A (p.Glu1036Lys) c.2528-1697G>A (n.2528-1697G>A) | dbSNP gnomAD v4 COSMIC |
| 2 | g.189006357G>C | CA349845027 | COL3A1 | c.3007G>C (p.Glu1003Gln) c.3106G>C (p.Glu1036Gln) c.2528-1697G>C (n.2528-1697G>C) | |
| 2 | g.189006357G= | CA1315404086 | COL3A1 | c.3007G= (p.Glu1003=) c.3106G= (p.Glu1036=) c.2528-1697G= (n.2528-1697G=) | |
| 2 | g.189006357G>T | CA349845028 | COL3A1 | c.3007G>T (p.Glu1003Ter) c.3106G>T (p.Glu1036Ter) c.2528-1697G>T (n.2528-1697G>T) | |
| 2 | g.189006358A>C | CA349845031 | COL3A1 | c.3008A>C (p.Glu1003Ala) c.3107A>C (p.Glu1036Ala) c.2528-1696A>C (n.2528-1696A>C) | gnomAD v4 |
| 2 | g.189006358A>G | CA349845029 | COL3A1 | c.3008A>G (p.Glu1003Gly) c.3107A>G (p.Glu1036Gly) c.2528-1696A>G (n.2528-1696A>G) | |
| 2 | g.189006358A>T | CA349845030 | COL3A1 | c.3008A>T (p.Glu1003Val) c.3107A>T (p.Glu1036Val) c.2528-1696A>T (n.2528-1696A>T) | |
| 2 | g.189006359A>C | CA349845032 | COL3A1 | c.3009A>C (p.Glu1003Asp) c.3108A>C (p.Glu1036Asp) c.2528-1695A>C (n.2528-1695A>C) | |
| 2 | g.189006359A>G | CA430312776 | COL3A1 | c.3009A>G (p.Glu1003=) c.3108A>G (p.Glu1036=) c.2528-1695A>G (n.2528-1695A>G) | |
| 2 | g.189006359A>T | CA349845033 | COL3A1 | c.3009A>T (p.Glu1003Asp) c.3108A>T (p.Glu1036Asp) c.2528-1695A>T (n.2528-1695A>T) | |
| 2 | g.189006360A>C | CA349845034 | COL3A1 | c.3010A>C (p.Asn1004His) c.3109A>C (p.Asn1037His) c.2528-1694A>C (n.2528-1694A>C) | |
| 2 | g.189006360A>G | CA349845035 | COL3A1 | c.3010A>G (p.Asn1004Asp) c.3109A>G (p.Asn1037Asp) c.2528-1694A>G (n.2528-1694A>G) | |
| 2 | g.189006360A>T | CA349845036 | COL3A1 | c.3010A>T (p.Asn1004Tyr) c.3109A>T (p.Asn1037Tyr) c.2528-1694A>T (n.2528-1694A>T) | |
| 2 | g.189006361A>C | CA349845037 | COL3A1 | c.3011A>C (p.Asn1004Thr) c.3110A>C (p.Asn1037Thr) c.2528-1693A>C (n.2528-1693A>C) | |
| 2 | g.189006361A>G | CA349845039 | COL3A1 | c.3011A>G (p.Asn1004Ser) c.3110A>G (p.Asn1037Ser) c.2528-1693A>G (n.2528-1693A>G) | |
| 2 | g.189006361A>T | CA349845038 | COL3A1 | c.3011A>T (p.Asn1004Ile) c.3110A>T (p.Asn1037Ile) c.2528-1693A>T (n.2528-1693A>T) | |
| 2 | g.189006362T>A | CA349845040 | COL3A1 | c.3012T>A (p.Asn1004Lys) c.3111T>A (p.Asn1037Lys) c.2528-1692T>A (n.2528-1692T>A) | gnomAD v4 |
| 2 | g.189006362T>C | CA430312777 | COL3A1 | c.3012T>C (p.Asn1004=) c.3111T>C (p.Asn1037=) c.2528-1692T>C (n.2528-1692T>C) | |
| 2 | g.189006362T>G | CA349845041 | COL3A1 | c.3012T>G (p.Asn1004Lys) c.3111T>G (p.Asn1037Lys) c.2528-1692T>G (n.2528-1692T>G) | |
| 2 | g.189006363G>A | CA349845042 | COL3A1 | c.3013G>A (p.Gly1005Ser) c.3112G>A (p.Gly1038Ser) c.2528-1691G>A (n.2528-1691G>A) | |
| 2 | g.189006363G>C | CA349845043 | COL3A1 | c.3013G>C (p.Gly1005Arg) c.3112G>C (p.Gly1038Arg) c.2528-1691G>C (n.2528-1691G>C) | ClinVar dbSNP |
| 2 | g.189006363G= | CA1315404087 | COL3A1 | c.3013G= (p.Gly1005=) c.3112G= (p.Gly1038=) c.2528-1691G= (n.2528-1691G=) | |
| 2 | g.189006363G>T | CA349845044 | COL3A1 | c.3013G>T (p.Gly1005Cys) c.3112G>T (p.Gly1038Cys) c.2528-1691G>T (n.2528-1691G>T) | |
| 2 | g.189006364G>A | CA349845045 | COL3A1 | c.3014G>A (p.Gly1005Asp) c.3113G>A (p.Gly1038Asp) c.2528-1690G>A (n.2528-1690G>A) | |
| 2 | g.189006364G>C | CA349845046 | COL3A1 | c.3014G>C (p.Gly1005Ala) c.3113G>C (p.Gly1038Ala) c.2528-1690G>C (n.2528-1690G>C) | |
| 2 | g.189006364G>T | CA349845047 | COL3A1 | c.3014G>T (p.Gly1005Val) c.3113G>T (p.Gly1038Val) c.2528-1690G>T (n.2528-1690G>T) | |
| 2 | g.189006365C>A | CA430312780 | COL3A1 | c.3015C>A (p.Gly1005=) c.3114C>A (p.Gly1038=) c.2528-1689C>A (n.2528-1689C>A) | |
| 2 | g.189006365C= | CA1315404088 | COL3A1 | c.3015C= (p.Gly1005=) c.3114C= (p.Gly1038=) c.2528-1689C= (n.2528-1689C=) | |
| 2 | g.189006365C>G | CA430312779 | COL3A1 | c.3015C>G (p.Gly1005=) c.3114C>G (p.Gly1038=) c.2528-1689C>G (n.2528-1689C>G) | |
| 2 | g.189006365C>T | CA62559316 | COL3A1 | c.3015C>T (p.Gly1005=) c.3114C>T (p.Gly1038=) c.2528-1689C>T (n.2528-1689C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189006366T>A | CA349845048 | COL3A1 | c.3016T>A (p.Ser1006Thr) c.3115T>A (p.Ser1039Thr) c.2528-1688T>A (n.2528-1688T>A) | |
| 2 | g.189006366T>C | CA349845049 | COL3A1 | c.3016T>C (p.Ser1006Pro) c.3115T>C (p.Ser1039Pro) c.2528-1688T>C (n.2528-1688T>C) | |
| 2 | g.189006366T>G | CA349845050 | COL3A1 | c.3016T>G (p.Ser1006Ala) c.3115T>G (p.Ser1039Ala) c.2528-1688T>G (n.2528-1688T>G) | |
| 2 | g.189006367C>A | CA349845051 | COL3A1 | c.3017C>A (p.Ser1006Tyr) c.3116C>A (p.Ser1039Tyr) c.2528-1687C>A (n.2528-1687C>A) | |
| 2 | g.189006367C= | CA1315404089 | COL3A1 | c.3017C= (p.Ser1006=) c.3116C= (p.Ser1039=) c.2528-1687C= (n.2528-1687C=) |