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 |
|---|---|---|---|---|---|
| 11 | g.121187894G>A | CA254070 | TBCEL-TECTA,TECTA | c.6062G>A (p.Arg2021His) c.6047G>A (p.Arg2016His) c.3354G>A n.2442G>A c.7004G>A (p.Arg2335His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.121187894G>C | CA383009657 | TBCEL-TECTA,TECTA | c.6062G>C (p.Arg2021Pro) c.6047G>C (p.Arg2016Pro) c.3354G>C n.2442G>C c.7004G>C (p.Arg2335Pro) | |
| 11 | g.121187894G= | CA2004763161 | TBCEL-TECTA,TECTA | c.6062G= (p.Arg2021=) c.6047G= (p.Arg2016=) c.3354G= n.2442G= c.7004G= (p.Arg2335=) | |
| 11 | g.121187894G>T | CA383009658 | TBCEL-TECTA,TECTA | c.6062G>T (p.Arg2021Leu) c.6047G>T (p.Arg2016Leu) c.3354G>T n.2442G>T c.7004G>T (p.Arg2335Leu) | |
| 11 | g.121187895C>A | CA477209120 | TBCEL-TECTA,TECTA | c.6063C>A (p.Arg2021=) c.6048C>A (p.Arg2016=) c.3355C>A n.2443C>A c.7005C>A (p.Arg2335=) | |
| 11 | g.121187895C>G | CA477209121 | TBCEL-TECTA,TECTA | c.6063C>G (p.Arg2021=) c.6048C>G (p.Arg2016=) c.3355C>G n.2443C>G c.7005C>G (p.Arg2335=) | |
| 11 | g.121187895C>T | CA477209122 | TBCEL-TECTA,TECTA | c.6063C>T (p.Arg2021=) c.6048C>T (p.Arg2016=) c.3355C>T n.2443C>T c.7005C>T (p.Arg2335=) | dbSNP gnomAD v4 |
| 11 | g.121187896T>A | CA383009659 | TBCEL-TECTA,TECTA | c.6064T>A (p.Phe2022Ile) c.6049T>A (p.Phe2017Ile) c.3356T>A n.2444T>A c.7006T>A (p.Phe2336Ile) | |
| 11 | g.121187896T>C | CA383009661 | TBCEL-TECTA,TECTA | c.6064T>C (p.Phe2022Leu) c.6049T>C (p.Phe2017Leu) c.3356T>C n.2444T>C c.7006T>C (p.Phe2336Leu) | |
| 11 | g.121187896T>G | CA383009660 | TBCEL-TECTA,TECTA | c.6064T>G (p.Phe2022Val) c.6049T>G (p.Phe2017Val) c.3356T>G n.2444T>G c.7006T>G (p.Phe2336Val) | |
| 11 | g.121187897T>A | CA383009662 | TBCEL-TECTA,TECTA | c.6065T>A (p.Phe2022Tyr) c.6050T>A (p.Phe2017Tyr) c.3357T>A n.2445T>A c.7007T>A (p.Phe2336Tyr) | |
| 11 | g.121187897T>C | CA383009663 | TBCEL-TECTA,TECTA | c.6065T>C (p.Phe2022Ser) c.6050T>C (p.Phe2017Ser) c.3357T>C n.2445T>C c.7007T>C (p.Phe2336Ser) | |
| 11 | g.121187897T>G | CA383009664 | TBCEL-TECTA,TECTA | c.6065T>G (p.Phe2022Cys) c.6050T>G (p.Phe2017Cys) c.3357T>G n.2445T>G c.7007T>G (p.Phe2336Cys) | |
| 11 | g.121187898T>A | CA383009665 | TBCEL-TECTA,TECTA | c.6066T>A (p.Phe2022Leu) c.6051T>A (p.Phe2017Leu) c.3358T>A n.2446T>A c.7008T>A (p.Phe2336Leu) | |
| 11 | g.121187898T>C | CA477209132 | TBCEL-TECTA,TECTA | c.6066T>C (p.Phe2022=) c.6051T>C (p.Phe2017=) c.3358T>C n.2446T>C c.7008T>C (p.Phe2336=) | |
| 11 | g.121187898T>G | CA383009666 | TBCEL-TECTA,TECTA | c.6066T>G (p.Phe2022Leu) c.6051T>G (p.Phe2017Leu) c.3358T>G n.2446T>G c.7008T>G (p.Phe2336Leu) | |
| 11 | g.121187899C>A | CA383009667 | TBCEL-TECTA,TECTA | c.6067C>A (p.His2023Asn) c.6052C>A (p.His2018Asn) c.3359C>A n.2447C>A c.7009C>A (p.His2337Asn) | |
| 11 | g.121187899C>G | CA383009668 | TBCEL-TECTA,TECTA | c.6067C>G (p.His2023Asp) c.6052C>G (p.His2018Asp) c.3359C>G n.2447C>G c.7009C>G (p.His2337Asp) | |
| 11 | g.121187899C>T | CA383009669 | TBCEL-TECTA,TECTA | c.6067C>T (p.His2023Tyr) c.6052C>T (p.His2018Tyr) c.3359C>T n.2447C>T c.7009C>T (p.His2337Tyr) | |
| 11 | g.121187900A>C | CA383009670 | TBCEL-TECTA,TECTA | c.6068A>C (p.His2023Pro) c.6053A>C (p.His2018Pro) c.3360A>C n.2448A>C c.7010A>C (p.His2337Pro) | |
| 11 | g.121187900A>G | CA383009671 | TBCEL-TECTA,TECTA | c.6068A>G (p.His2023Arg) c.6053A>G (p.His2018Arg) c.3360A>G n.2448A>G c.7010A>G (p.His2337Arg) | |
| 11 | g.121187900A>T | CA383009672 | TBCEL-TECTA,TECTA | c.6068A>T (p.His2023Leu) c.6053A>T (p.His2018Leu) c.3360A>T n.2448A>T c.7010A>T (p.His2337Leu) | |
| 11 | g.121187901C>A | CA383009674 | TBCEL-TECTA,TECTA | c.6069C>A (p.His2023Gln) c.6054C>A (p.His2018Gln) c.3361C>A n.2449C>A c.7011C>A (p.His2337Gln) | |
| 11 | g.121187901C= | CA2004763162 | TBCEL-TECTA,TECTA | c.6069C= (p.His2023=) c.6054C= (p.His2018=) c.3361C= n.2449C= c.7011C= (p.His2337=) | |
| 11 | g.121187901C>G | CA383009673 | TBCEL-TECTA,TECTA | c.6069C>G (p.His2023Gln) c.6054C>G (p.His2018Gln) c.3361C>G n.2449C>G c.7011C>G (p.His2337Gln) | dbSNP |
| 11 | g.121187901C>T | CA6327875 | TBCEL-TECTA,TECTA | c.6069C>T (p.His2023=) c.6054C>T (p.His2018=) c.3361C>T n.2449C>T c.7011C>T (p.His2337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121187902G>A | CA6327876 | TBCEL-TECTA,TECTA | c.6070G>A (p.Val2024Ile) c.6055G>A (p.Val2019Ile) c.3362G>A n.2450G>A c.7012G>A (p.Val2338Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121187902G>C | CA383009675 | TBCEL-TECTA,TECTA | c.6070G>C (p.Val2024Leu) c.6055G>C (p.Val2019Leu) c.3362G>C n.2450G>C c.7012G>C (p.Val2338Leu) | |
| 11 | g.121187902G= | CA2004763163 | TBCEL-TECTA,TECTA | c.6070G= (p.Val2024=) c.6055G= (p.Val2019=) c.3362G= n.2450G= c.7012G= (p.Val2338=) | |
| 11 | g.121187902G>T | CA383009676 | TBCEL-TECTA,TECTA | c.6070G>T (p.Val2024Phe) c.6055G>T (p.Val2019Phe) c.3362G>T n.2450G>T c.7012G>T (p.Val2338Phe) | gnomAD v4 |
| 11 | g.121187903T>A | CA383009677 | TBCEL-TECTA,TECTA | c.6071T>A (p.Val2024Asp) c.6056T>A (p.Val2019Asp) c.3363T>A n.2451T>A c.7013T>A (p.Val2338Asp) | |
| 11 | g.121187903T>C | CA383009678 | TBCEL-TECTA,TECTA | c.6071T>C (p.Val2024Ala) c.6056T>C (p.Val2019Ala) c.3363T>C n.2451T>C c.7013T>C (p.Val2338Ala) | |
| 11 | g.121187903T>G | CA383009679 | TBCEL-TECTA,TECTA | c.6071T>G (p.Val2024Gly) c.6056T>G (p.Val2019Gly) c.3363T>G n.2451T>G c.7013T>G (p.Val2338Gly) | |
| 11 | g.121187904C>A | CA477209136 | TBCEL-TECTA,TECTA | c.6072C>A (p.Val2024=) c.6057C>A (p.Val2019=) c.3364C>A n.2452C>A c.7014C>A (p.Val2338=) | |
| 11 | g.121187904C>G | CA477209137 | TBCEL-TECTA,TECTA | c.6072C>G (p.Val2024=) c.6057C>G (p.Val2019=) c.3364C>G n.2452C>G c.7014C>G (p.Val2338=) | |
| 11 | g.121187904C>T | CA477209139 | TBCEL-TECTA,TECTA | c.6072C>T (p.Val2024=) c.6057C>T (p.Val2019=) c.3364C>T n.2452C>T c.7014C>T (p.Val2338=) | |
| 11 | g.121187905A>C | CA383009680 | TBCEL-TECTA,TECTA | c.6073A>C (p.Thr2025Pro) c.6058A>C (p.Thr2020Pro) c.3365A>C n.2453A>C c.7015A>C (p.Thr2339Pro) | |
| 11 | g.121187905A>G | CA383009681 | TBCEL-TECTA,TECTA | c.6073A>G (p.Thr2025Ala) c.6058A>G (p.Thr2020Ala) c.3365A>G n.2453A>G c.7015A>G (p.Thr2339Ala) | |
| 11 | g.121187905A>T | CA383009682 | TBCEL-TECTA,TECTA | c.6073A>T (p.Thr2025Ser) c.6058A>T (p.Thr2020Ser) c.3365A>T n.2453A>T c.7015A>T (p.Thr2339Ser) | |
| 11 | g.121187906C>A | CA383009683 | TBCEL-TECTA,TECTA | c.6074C>A (p.Thr2025Asn) c.6059C>A (p.Thr2020Asn) c.3366C>A n.2454C>A c.7016C>A (p.Thr2339Asn) | |
| 11 | g.121187906C>G | CA383009684 | TBCEL-TECTA,TECTA | c.6074C>G (p.Thr2025Ser) c.6059C>G (p.Thr2020Ser) c.3366C>G n.2454C>G c.7016C>G (p.Thr2339Ser) | |
| 11 | g.121187906C>T | CA383009685 | TBCEL-TECTA,TECTA | c.6074C>T (p.Thr2025Ile) c.6059C>T (p.Thr2020Ile) c.3366C>T n.2454C>T c.7016C>T (p.Thr2339Ile) | |
| 11 | g.121187907C>A | CA229828391 | TBCEL-TECTA,TECTA | c.6075C>A (p.Thr2025=) c.6060C>A (p.Thr2020=) c.3367C>A n.2455C>A c.7017C>A (p.Thr2339=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121187907C= | CA2004763164 | TBCEL-TECTA,TECTA | c.6075C= (p.Thr2025=) c.6060C= (p.Thr2020=) c.3367C= n.2455C= c.7017C= (p.Thr2339=) | |
| 11 | g.121187907C>G | CA477209143 | TBCEL-TECTA,TECTA | c.6075C>G (p.Thr2025=) c.6060C>G (p.Thr2020=) c.3367C>G n.2455C>G c.7017C>G (p.Thr2339=) | |
| 11 | g.121187907C>T | CA6327877 | TBCEL-TECTA,TECTA | c.6075C>T (p.Thr2025=) c.6060C>T (p.Thr2020=) c.3367C>T n.2455C>T c.7017C>T (p.Thr2339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121187908G>A | CA6327878 | TBCEL-TECTA,TECTA | c.6076G>A (p.Val2026Ile) c.6061G>A (p.Val2021Ile) c.3368G>A n.2456G>A c.7018G>A (p.Val2340Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121187908G>C | CA383009687 | TBCEL-TECTA,TECTA | c.6076G>C (p.Val2026Leu) c.6061G>C (p.Val2021Leu) c.3368G>C n.2456G>C c.7018G>C (p.Val2340Leu) | |
| 11 | g.121187908G= | CA2004763165 | TBCEL-TECTA,TECTA | c.6076G= (p.Val2026=) c.6061G= (p.Val2021=) c.3368G= n.2456G= c.7018G= (p.Val2340=) | |
| 11 | g.121187908G>T | CA383009686 | TBCEL-TECTA,TECTA | c.6076G>T (p.Val2026Phe) c.6061G>T (p.Val2021Phe) c.3368G>T n.2456G>T c.7018G>T (p.Val2340Phe) |