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.190322119A= | CA1428732428 | CLDN1,CLDN16 | c.88T= (p.Trp30=) c.-279+7060A= (n.-279+7060A=) c.-279+31528A= (n.-279+31528A=) | |
| 3 | g.190322119A>C | CA355758520 | CLDN1,CLDN16 | c.88T>G (p.Trp30Gly) c.-279+7060A>C (n.-279+7060A>C) c.-279+31528A>C (n.-279+31528A>C) | |
| 3 | g.190322119A>G | CA355758523 | CLDN1,CLDN16 | c.88T>C (p.Trp30Arg) c.-279+7060A>G (n.-279+7060A>G) c.-279+31528A>G (n.-279+31528A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.190322119A>T | CA355758525 | CLDN1,CLDN16 | c.88T>A (p.Trp30Arg) c.-279+7060A>T (n.-279+7060A>T) c.-279+31528A>T (n.-279+31528A>T) | |
| 3 | g.190322120C>A | CA355758530 | CLDN1,CLDN16 | c.87G>T (p.Gln29His) c.-279+7061C>A (n.-279+7061C>A) c.-279+31529C>A (n.-279+31529C>A) | |
| 3 | g.190322120C= | CA1428732431 | CLDN1,CLDN16 | c.87G= (p.Gln29=) c.-279+7061C= (n.-279+7061C=) c.-279+31529C= (n.-279+31529C=) | |
| 3 | g.190322120C>G | CA355758533 | CLDN1,CLDN16 | c.87G>C (p.Gln29His) c.-279+7061C>G (n.-279+7061C>G) c.-279+31529C>G (n.-279+31529C>G) | dbSNP |
| 3 | g.190322120C>T | CA437417647 | CLDN1,CLDN16 | c.87G>A (p.Gln29=) c.-279+7061C>T (n.-279+7061C>T) c.-279+31529C>T (n.-279+31529C>T) | |
| 3 | g.190322121T>A | CA355758536 | CLDN1,CLDN16 | c.86A>T (p.Gln29Leu) c.-279+7062T>A (n.-279+7062T>A) c.-279+31530T>A (n.-279+31530T>A) | gnomAD v4 |
| 3 | g.190322121T>C | CA355758538 | CLDN1,CLDN16 | c.86A>G (p.Gln29Arg) c.-279+7062T>C (n.-279+7062T>C) c.-279+31530T>C (n.-279+31530T>C) | |
| 3 | g.190322121T>G | CA355758541 | CLDN1,CLDN16 | c.86A>C (p.Gln29Pro) c.-279+7062T>G (n.-279+7062T>G) c.-279+31530T>G (n.-279+31530T>G) | |
| 3 | g.190322122G>A | CA2753636 | CLDN1,CLDN16 | c.85C>T (p.Gln29Ter) c.-279+7063G>A (n.-279+7063G>A) c.-279+31531G>A (n.-279+31531G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190322122G>C | CA355758556 | CLDN1,CLDN16 | c.85C>G (p.Gln29Glu) c.-279+7063G>C (n.-279+7063G>C) c.-279+31531G>C (n.-279+31531G>C) | |
| 3 | g.190322122G= | CA1428732434 | CLDN1,CLDN16 | c.85C= (p.Gln29=) c.-279+7063G= (n.-279+7063G=) c.-279+31531G= (n.-279+31531G=) | |
| 3 | g.190322122G>T | CA355758558 | CLDN1,CLDN16 | c.85C>A (p.Gln29Lys) c.-279+7063G>T (n.-279+7063G>T) c.-279+31531G>T (n.-279+31531G>T) | |
| 3 | g.190322125del | CA2669053266 | CLDN1,CLDN16 | c.85del (p.Gln29SerfsTer13) c.-279+7066del (n.-279+7066del) c.-279+31534del (n.-279+31534del) | gnomAD v4 |
| 3 | g.190322122_190322126dup | CA2577990674 | CLDN1,CLDN16 | c.81_85dup (p.Gln29ArgfsTer15) c.-279+7063_-279+7067dup (n.-279+7063_-279+7067dup) c.-279+31531_-279+31535dup (n.-279+31531_-279+31535dup) | |
| 3 | g.190322123G>A | CA437417649 | CLDN1,CLDN16 | c.84C>T (p.Pro28=) c.-279+7064G>A (n.-279+7064G>A) c.-279+31532G>A (n.-279+31532G>A) | |
| 3 | g.190322123G>C | CA437417650 | CLDN1,CLDN16 | c.84C>G (p.Pro28=) c.-279+7064G>C (n.-279+7064G>C) c.-279+31532G>C (n.-279+31532G>C) | |
| 3 | g.190322123G>T | CA437417651 | CLDN1,CLDN16 | c.84C>A (p.Pro28=) c.-279+7064G>T (n.-279+7064G>T) c.-279+31532G>T (n.-279+31532G>T) | gnomAD v4 |
| 3 | g.190322124G>A | CA355758568 | CLDN1,CLDN16 | c.83C>T (p.Pro28Leu) c.-279+7065G>A (n.-279+7065G>A) c.-279+31533G>A (n.-279+31533G>A) | |
| 3 | g.190322124G>C | CA355758565 | CLDN1,CLDN16 | c.83C>G (p.Pro28Arg) c.-279+7065G>C (n.-279+7065G>C) c.-279+31533G>C (n.-279+31533G>C) | |
| 3 | g.190322124G>T | CA355758562 | CLDN1,CLDN16 | c.83C>A (p.Pro28His) c.-279+7065G>T (n.-279+7065G>T) c.-279+31533G>T (n.-279+31533G>T) | |
| 3 | g.190322125G>A | CA355758573 | CLDN1,CLDN16 | c.82C>T (p.Pro28Ser) c.-279+7066G>A (n.-279+7066G>A) c.-279+31534G>A (n.-279+31534G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.190322125G>C | CA355758580 | CLDN1,CLDN16 | c.82C>G (p.Pro28Ala) c.-279+7066G>C (n.-279+7066G>C) c.-279+31534G>C (n.-279+31534G>C) | |
| 3 | g.190322125G= | CA1428732437 | CLDN1,CLDN16 | c.82C= (p.Pro28=) c.-279+7066G= (n.-279+7066G=) c.-279+31534G= (n.-279+31534G=) | |
| 3 | g.190322125G>T | CA89745019 | CLDN1,CLDN16 | c.82C>A (p.Pro28Thr) c.-279+7066G>T (n.-279+7066G>T) c.-279+31534G>T (n.-279+31534G>T) | dbSNP gnomAD v4 |
| 3 | g.190322126C>A | CA437417652 | CLDN1,CLDN16 | c.81G>T (p.Leu27=) c.-279+7067C>A (n.-279+7067C>A) c.-279+31535C>A (n.-279+31535C>A) | |
| 3 | g.190322126C= | CA1428732441 | CLDN1,CLDN16 | c.81G= (p.Leu27=) c.-279+7067C= (n.-279+7067C=) c.-279+31535C= (n.-279+31535C=) | |
| 3 | g.190322126C>G | CA437417654 | CLDN1,CLDN16 | c.81G>C (p.Leu27=) c.-279+7067C>G (n.-279+7067C>G) c.-279+31535C>G (n.-279+31535C>G) | |
| 3 | g.190322126C>T | CA437417653 | CLDN1,CLDN16 | c.81G>A (p.Leu27=) c.-279+7067C>T (n.-279+7067C>T) c.-279+31535C>T (n.-279+31535C>T) | dbSNP gnomAD v2 |
| 3 | g.190322127A>C | CA355758584 | CLDN1,CLDN16 | c.80T>G (p.Leu27Arg) c.-279+7068A>C (n.-279+7068A>C) c.-279+31536A>C (n.-279+31536A>C) | |
| 3 | g.190322127A>G | CA355758591 | CLDN1,CLDN16 | c.80T>C (p.Leu27Pro) c.-279+7068A>G (n.-279+7068A>G) c.-279+31536A>G (n.-279+31536A>G) | |
| 3 | g.190322127A>T | CA355758594 | CLDN1,CLDN16 | c.80T>A (p.Leu27Gln) c.-279+7068A>T (n.-279+7068A>T) c.-279+31536A>T (n.-279+31536A>T) | |
| 3 | g.190322128G>A | CA2753637 | CLDN1,CLDN16 | c.79C>T (p.Leu27=) c.-279+7069G>A (n.-279+7069G>A) c.-279+31537G>A (n.-279+31537G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.190322128G>C | CA355758602 | CLDN1,CLDN16 | c.79C>G (p.Leu27Val) c.-279+7069G>C (n.-279+7069G>C) c.-279+31537G>C (n.-279+31537G>C) | |
| 3 | g.190322128G= | CA1428732443 | CLDN1,CLDN16 | c.79C= (p.Leu27=) c.-279+7069G= (n.-279+7069G=) c.-279+31537G= (n.-279+31537G=) | |
| 3 | g.190322128G>T | CA355758607 | CLDN1,CLDN16 | c.79C>A (p.Leu27Met) c.-279+7069G>T (n.-279+7069G>T) c.-279+31537G>T (n.-279+31537G>T) | |
| 3 | g.190322129G>A | CA437417656 | CLDN1,CLDN16 | c.78C>T (p.Ala26=) c.-279+7070G>A (n.-279+7070G>A) c.-279+31538G>A (n.-279+31538G>A) | |
| 3 | g.190322129G>C | CA437417657 | CLDN1,CLDN16 | c.78C>G (p.Ala26=) c.-279+7070G>C (n.-279+7070G>C) c.-279+31538G>C (n.-279+31538G>C) | |
| 3 | g.190322129G>T | CA437417658 | CLDN1,CLDN16 | c.78C>A (p.Ala26=) c.-279+7070G>T (n.-279+7070G>T) c.-279+31538G>T (n.-279+31538G>T) | |
| 3 | g.190322130G>A | CA355758612 | CLDN1,CLDN16 | c.77C>T (p.Ala26Val) c.-279+7071G>A (n.-279+7071G>A) c.-279+31539G>A (n.-279+31539G>A) | |
| 3 | g.190322130G>C | CA355758615 | CLDN1,CLDN16 | c.77C>G (p.Ala26Gly) c.-279+7071G>C (n.-279+7071G>C) c.-279+31539G>C (n.-279+31539G>C) | |
| 3 | g.190322130G>T | CA355758618 | CLDN1,CLDN16 | c.77C>A (p.Ala26Asp) c.-279+7071G>T (n.-279+7071G>T) c.-279+31539G>T (n.-279+31539G>T) | gnomAD v4 |
| 3 | g.190322130_190322131delinsGC | CA1428732446 | CLDN1,CLDN16 | c.76_77delinsGC (p.Ala26=) c.-279+7071_-279+7072delinsGC (n.-279+7071_-279+7072delinsGC) c.-279+31539_-279+31540delinsGC (n.-279+31539_-279+31540delinsGC) | |
| 3 | g.190322131del | CA904236041 | CLDN1,CLDN16 | c.76del (p.Ala26ProfsTer16) c.-279+7072del (n.-279+7072del) c.-279+31540del (n.-279+31540del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.190322131C>A | CA355758625 | CLDN1,CLDN16 | c.76G>T (p.Ala26Ser) c.-279+7072C>A (n.-279+7072C>A) c.-279+31540C>A (n.-279+31540C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.190322131C= | CA1428732449 | CLDN1,CLDN16 | c.76G= (p.Ala26=) c.-279+7072C= (n.-279+7072C=) c.-279+31540C= (n.-279+31540C=) | |
| 3 | g.190322131C>G | CA355758627 | CLDN1,CLDN16 | c.76G>C (p.Ala26Pro) c.-279+7072C>G (n.-279+7072C>G) c.-279+31540C>G (n.-279+31540C>G) | |
| 3 | g.190322131C>T | CA355758631 | CLDN1,CLDN16 | c.76G>A (p.Ala26Thr) c.-279+7072C>T (n.-279+7072C>T) c.-279+31540C>T (n.-279+31540C>T) |