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 |
|---|---|---|---|---|---|
| 6 | g.51883092C>A | CA16041042 | PKHD1 | c.7350+1G>T (n.7350+1G>T) c.6708+1G>T (n.6708+1G>T) c.6639+1G>T (n.6639+1G>T) c.1425+1G>T (n.1425+1G>T) c.7275+1G>T (n.7275+1G>T) c.7086+1G>T (n.7086+1G>T) c.5490+1G>T (n.5490+1G>T) n.7626+1G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51883092C= | CA1628593560 | PKHD1 | c.7350+1G= (n.7350+1G=) c.6708+1G= (n.6708+1G=) c.6639+1G= (n.6639+1G=) c.1425+1G= (n.1425+1G=) c.7275+1G= (n.7275+1G=) c.7086+1G= (n.7086+1G=) c.5490+1G= (n.5490+1G=) n.7626+1G= | |
| 6 | g.51883092C>G | CA364421777 | PKHD1 | c.7350+1G>C (n.7350+1G>C) c.6708+1G>C (n.6708+1G>C) c.6639+1G>C (n.6639+1G>C) c.1425+1G>C (n.1425+1G>C) c.7275+1G>C (n.7275+1G>C) c.7086+1G>C (n.7086+1G>C) c.5490+1G>C (n.5490+1G>C) n.7626+1G>C | |
| 6 | g.51883092C>T | CA364421776 | PKHD1 | c.7350+1G>A (n.7350+1G>A) c.6708+1G>A (n.6708+1G>A) c.6639+1G>A (n.6639+1G>A) c.1425+1G>A (n.1425+1G>A) c.7275+1G>A (n.7275+1G>A) c.7086+1G>A (n.7086+1G>A) c.5490+1G>A (n.5490+1G>A) n.7626+1G>A | |
| 6 | g.51883093C>A | CA364421778 | PKHD1 | c.7350G>T (p.Lys2450Asn) c.6708G>T (p.Lys2236Asn) c.6639G>T (p.Lys2213Asn) c.1425G>T (p.Lys475Asn) c.7275G>T (p.Lys2425Asn) c.7086G>T (p.Lys2362Asn) c.5490G>T (p.Lys1830Asn) n.7626G>T | gnomAD v4 |
| 6 | g.51883093C>G | CA364421781 | PKHD1 | c.7350G>C (p.Lys2450Asn) c.6708G>C (p.Lys2236Asn) c.6639G>C (p.Lys2213Asn) c.1425G>C (p.Lys475Asn) c.7275G>C (p.Lys2425Asn) c.7086G>C (p.Lys2362Asn) c.5490G>C (p.Lys1830Asn) n.7626G>C | |
| 6 | g.51883093C>T | CA450413666 | PKHD1 | c.7350G>A (p.Lys2450=) c.6708G>A (p.Lys2236=) c.6639G>A (p.Lys2213=) c.1425G>A (p.Lys475=) c.7275G>A (p.Lys2425=) c.7086G>A (p.Lys2362=) c.5490G>A (p.Lys1830=) n.7626G>A | |
| 6 | g.51883094T>A | CA364421784 | PKHD1 | c.7349A>T (p.Lys2450Met) c.6707A>T (p.Lys2236Met) c.6638A>T (p.Lys2213Met) c.1424A>T (p.Lys475Met) c.7274A>T (p.Lys2425Met) c.7085A>T (p.Lys2362Met) c.5489A>T (p.Lys1830Met) n.7625A>T | |
| 6 | g.51883094T>C | CA364421787 | PKHD1 | c.7349A>G (p.Lys2450Arg) c.6707A>G (p.Lys2236Arg) c.6638A>G (p.Lys2213Arg) c.1424A>G (p.Lys475Arg) c.7274A>G (p.Lys2425Arg) c.7085A>G (p.Lys2362Arg) c.5489A>G (p.Lys1830Arg) n.7625A>G | COSMIC COSMIC |
| 6 | g.51883094T>G | CA364421789 | PKHD1 | c.7349A>C (p.Lys2450Thr) c.6707A>C (p.Lys2236Thr) c.6638A>C (p.Lys2213Thr) c.1424A>C (p.Lys475Thr) c.7274A>C (p.Lys2425Thr) c.7085A>C (p.Lys2362Thr) c.5489A>C (p.Lys1830Thr) n.7625A>C | |
| 6 | g.51883095T>A | CA364421794 | PKHD1 | c.7348A>T (p.Lys2450Ter) c.6706A>T (p.Lys2236Ter) c.6637A>T (p.Lys2213Ter) c.1423A>T (p.Lys475Ter) c.7273A>T (p.Lys2425Ter) c.7084A>T (p.Lys2362Ter) c.5488A>T (p.Lys1830Ter) n.7624A>T | ClinVar |
| 6 | g.51883095T>C | CA364421796 | PKHD1 | c.7348A>G (p.Lys2450Glu) c.6706A>G (p.Lys2236Glu) c.6637A>G (p.Lys2213Glu) c.1423A>G (p.Lys475Glu) c.7273A>G (p.Lys2425Glu) c.7084A>G (p.Lys2362Glu) c.5488A>G (p.Lys1830Glu) n.7624A>G | |
| 6 | g.51883095T>G | CA364421798 | PKHD1 | c.7348A>C (p.Lys2450Gln) c.6706A>C (p.Lys2236Gln) c.6637A>C (p.Lys2213Gln) c.1423A>C (p.Lys475Gln) c.7273A>C (p.Lys2425Gln) c.7084A>C (p.Lys2362Gln) c.5488A>C (p.Lys1830Gln) n.7624A>C | |
| 6 | g.51883096G>A | CA450413667 | PKHD1 | c.7347C>T (p.His2449=) c.6705C>T (p.His2235=) c.6636C>T (p.His2212=) c.1422C>T (p.His474=) c.7272C>T (p.His2424=) c.7083C>T (p.His2361=) c.5487C>T (p.His1829=) n.7623C>T | gnomAD v4 |
| 6 | g.51883096G>C | CA3851976 | PKHD1 | c.7347C>G (p.His2449Gln) c.6705C>G (p.His2235Gln) c.6636C>G (p.His2212Gln) c.1422C>G (p.His474Gln) c.7272C>G (p.His2424Gln) c.7083C>G (p.His2361Gln) c.5487C>G (p.His1829Gln) n.7623C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51883096G= | CA1628593561 | PKHD1 | c.7347C= (p.His2449=) c.6705C= (p.His2235=) c.6636C= (p.His2212=) c.1422C= (p.His474=) c.7272C= (p.His2424=) c.7083C= (p.His2361=) c.5487C= (p.His1829=) n.7623C= | |
| 6 | g.51883096G>T | CA364421803 | PKHD1 | c.7347C>A (p.His2449Gln) c.6705C>A (p.His2235Gln) c.6636C>A (p.His2212Gln) c.1422C>A (p.His474Gln) c.7272C>A (p.His2424Gln) c.7083C>A (p.His2361Gln) c.5487C>A (p.His1829Gln) n.7623C>A | |
| 6 | g.51883097T>A | CA364421805 | PKHD1 | c.7346A>T (p.His2449Leu) c.6704A>T (p.His2235Leu) c.6635A>T (p.His2212Leu) c.1421A>T (p.His474Leu) c.7271A>T (p.His2424Leu) c.7082A>T (p.His2361Leu) c.5486A>T (p.His1829Leu) n.7622A>T | |
| 6 | g.51883097T>C | CA364421806 | PKHD1 | c.7346A>G (p.His2449Arg) c.6704A>G (p.His2235Arg) c.6635A>G (p.His2212Arg) c.1421A>G (p.His474Arg) c.7271A>G (p.His2424Arg) c.7082A>G (p.His2361Arg) c.5486A>G (p.His1829Arg) n.7622A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51883097T>G | CA364421807 | PKHD1 | c.7346A>C (p.His2449Pro) c.6704A>C (p.His2235Pro) c.6635A>C (p.His2212Pro) c.1421A>C (p.His474Pro) c.7271A>C (p.His2424Pro) c.7082A>C (p.His2361Pro) c.5486A>C (p.His1829Pro) n.7622A>C | |
| 6 | g.51883097T= | CA1628593562 | PKHD1 | c.7346A= (p.His2449=) c.6704A= (p.His2235=) c.6635A= (p.His2212=) c.1421A= (p.His474=) c.7271A= (p.His2424=) c.7082A= (p.His2361=) c.5486A= (p.His1829=) n.7622A= | |
| 6 | g.51883098G>A | CA364421811 | PKHD1 | c.7345C>T (p.His2449Tyr) c.6703C>T (p.His2235Tyr) c.6634C>T (p.His2212Tyr) c.1420C>T (p.His474Tyr) c.7270C>T (p.His2424Tyr) c.7081C>T (p.His2361Tyr) c.5485C>T (p.His1829Tyr) n.7621C>T | dbSNP gnomAD v4 |
| 6 | g.51883098G>C | CA364421821 | PKHD1 | c.7345C>G (p.His2449Asp) c.6703C>G (p.His2235Asp) c.6634C>G (p.His2212Asp) c.1420C>G (p.His474Asp) c.7270C>G (p.His2424Asp) c.7081C>G (p.His2361Asp) c.5485C>G (p.His1829Asp) n.7621C>G | |
| 6 | g.51883098G>T | CA364421815 | PKHD1 | c.7345C>A (p.His2449Asn) c.6703C>A (p.His2235Asn) c.6634C>A (p.His2212Asn) c.1420C>A (p.His474Asn) c.7270C>A (p.His2424Asn) c.7081C>A (p.His2361Asn) c.5485C>A (p.His1829Asn) n.7621C>A | |
| 6 | g.51883099G>A | CA450413668 | PKHD1 | c.7344C>T (p.Ala2448=) c.6702C>T (p.Ala2234=) c.6633C>T (p.Ala2211=) c.1419C>T (p.Ala473=) c.7269C>T (p.Ala2423=) c.7080C>T (p.Ala2360=) c.5484C>T (p.Ala1828=) n.7620C>T | dbSNP gnomAD v2 |
| 6 | g.51883099G>C | CA450413669 | PKHD1 | c.7344C>G (p.Ala2448=) c.6702C>G (p.Ala2234=) c.6633C>G (p.Ala2211=) c.1419C>G (p.Ala473=) c.7269C>G (p.Ala2423=) c.7080C>G (p.Ala2360=) c.5484C>G (p.Ala1828=) n.7620C>G | ClinVar dbSNP |
| 6 | g.51883099G= | CA1628593563 | PKHD1 | c.7344C= (p.Ala2448=) c.6702C= (p.Ala2234=) c.6633C= (p.Ala2211=) c.1419C= (p.Ala473=) c.7269C= (p.Ala2423=) c.7080C= (p.Ala2360=) c.5484C= (p.Ala1828=) n.7620C= | |
| 6 | g.51883099G>T | CA450413670 | PKHD1 | c.7344C>A (p.Ala2448=) c.6702C>A (p.Ala2234=) c.6633C>A (p.Ala2211=) c.1419C>A (p.Ala473=) c.7269C>A (p.Ala2423=) c.7080C>A (p.Ala2360=) c.5484C>A (p.Ala1828=) n.7620C>A | |
| 6 | g.51883100G>A | CA364421826 | PKHD1 | c.7343C>T (p.Ala2448Val) c.6701C>T (p.Ala2234Val) c.6632C>T (p.Ala2211Val) c.1418C>T (p.Ala473Val) c.7268C>T (p.Ala2423Val) c.7079C>T (p.Ala2360Val) c.5483C>T (p.Ala1828Val) n.7619C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51883100G>C | CA138898241 | PKHD1 | c.7343C>G (p.Ala2448Gly) c.6701C>G (p.Ala2234Gly) c.6632C>G (p.Ala2211Gly) c.1418C>G (p.Ala473Gly) c.7268C>G (p.Ala2423Gly) c.7079C>G (p.Ala2360Gly) c.5483C>G (p.Ala1828Gly) n.7619C>G | dbSNP |
| 6 | g.51883100G= | CA1628593564 | PKHD1 | c.7343C= (p.Ala2448=) c.6701C= (p.Ala2234=) c.6632C= (p.Ala2211=) c.1418C= (p.Ala473=) c.7268C= (p.Ala2423=) c.7079C= (p.Ala2360=) c.5483C= (p.Ala1828=) n.7619C= | |
| 6 | g.51883100G>T | CA364421830 | PKHD1 | c.7343C>A (p.Ala2448Asp) c.6701C>A (p.Ala2234Asp) c.6632C>A (p.Ala2211Asp) c.1418C>A (p.Ala473Asp) c.7268C>A (p.Ala2423Asp) c.7079C>A (p.Ala2360Asp) c.5483C>A (p.Ala1828Asp) n.7619C>A | |
| 6 | g.51883101C>A | CA364421832 | PKHD1 | c.7342G>T (p.Ala2448Ser) c.6700G>T (p.Ala2234Ser) c.6631G>T (p.Ala2211Ser) c.1417G>T (p.Ala473Ser) c.7267G>T (p.Ala2423Ser) c.7078G>T (p.Ala2360Ser) c.5482G>T (p.Ala1828Ser) n.7618G>T | |
| 6 | g.51883101C>G | CA364421833 | PKHD1 | c.7342G>C (p.Ala2448Pro) c.6700G>C (p.Ala2234Pro) c.6631G>C (p.Ala2211Pro) c.1417G>C (p.Ala473Pro) c.7267G>C (p.Ala2423Pro) c.7078G>C (p.Ala2360Pro) c.5482G>C (p.Ala1828Pro) n.7618G>C | |
| 6 | g.51883101C>T | CA364421834 | PKHD1 | c.7342G>A (p.Ala2448Thr) c.6700G>A (p.Ala2234Thr) c.6631G>A (p.Ala2211Thr) c.1417G>A (p.Ala473Thr) c.7267G>A (p.Ala2423Thr) c.7078G>A (p.Ala2360Thr) c.5482G>A (p.Ala1828Thr) n.7618G>A | |
| 6 | g.51883102A= | CA1628593565 | PKHD1 | c.7341T= (p.Phe2447=) c.6699T= (p.Phe2233=) c.6630T= (p.Phe2210=) c.1416T= (p.Phe472=) c.7266T= (p.Phe2422=) c.7077T= (p.Phe2359=) c.5481T= (p.Phe1827=) n.7617T= | |
| 6 | g.51883102A>C | CA364421837 | PKHD1 | c.7341T>G (p.Phe2447Leu) c.6699T>G (p.Phe2233Leu) c.6630T>G (p.Phe2210Leu) c.1416T>G (p.Phe472Leu) c.7266T>G (p.Phe2422Leu) c.7077T>G (p.Phe2359Leu) c.5481T>G (p.Phe1827Leu) n.7617T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51883102A>G | CA450413671 | PKHD1 | c.7341T>C (p.Phe2447=) c.6699T>C (p.Phe2233=) c.6630T>C (p.Phe2210=) c.1416T>C (p.Phe472=) c.7266T>C (p.Phe2422=) c.7077T>C (p.Phe2359=) c.5481T>C (p.Phe1827=) n.7617T>C | |
| 6 | g.51883102A>T | CA364421843 | PKHD1 | c.7341T>A (p.Phe2447Leu) c.6699T>A (p.Phe2233Leu) c.6630T>A (p.Phe2210Leu) c.1416T>A (p.Phe472Leu) c.7266T>A (p.Phe2422Leu) c.7077T>A (p.Phe2359Leu) c.5481T>A (p.Phe1827Leu) n.7617T>A | |
| 6 | g.51883103A>C | CA364421846 | PKHD1 | c.7340T>G (p.Phe2447Cys) c.6698T>G (p.Phe2233Cys) c.6629T>G (p.Phe2210Cys) c.1415T>G (p.Phe472Cys) c.7265T>G (p.Phe2422Cys) c.7076T>G (p.Phe2359Cys) c.5480T>G (p.Phe1827Cys) n.7616T>G | |
| 6 | g.51883103A>G | CA364421847 | PKHD1 | c.7340T>C (p.Phe2447Ser) c.6698T>C (p.Phe2233Ser) c.6629T>C (p.Phe2210Ser) c.1415T>C (p.Phe472Ser) c.7265T>C (p.Phe2422Ser) c.7076T>C (p.Phe2359Ser) c.5480T>C (p.Phe1827Ser) n.7616T>C | |
| 6 | g.51883103A>T | CA364421848 | PKHD1 | c.7340T>A (p.Phe2447Tyr) c.6698T>A (p.Phe2233Tyr) c.6629T>A (p.Phe2210Tyr) c.1415T>A (p.Phe472Tyr) c.7265T>A (p.Phe2422Tyr) c.7076T>A (p.Phe2359Tyr) c.5480T>A (p.Phe1827Tyr) n.7616T>A | |
| 6 | g.51883104A>C | CA364421853 | PKHD1 | c.7339T>G (p.Phe2447Val) c.6697T>G (p.Phe2233Val) c.6628T>G (p.Phe2210Val) c.1414T>G (p.Phe472Val) c.7264T>G (p.Phe2422Val) c.7075T>G (p.Phe2359Val) c.5479T>G (p.Phe1827Val) n.7615T>G | |
| 6 | g.51883104A>G | CA364421856 | PKHD1 | c.7339T>C (p.Phe2447Leu) c.6697T>C (p.Phe2233Leu) c.6628T>C (p.Phe2210Leu) c.1414T>C (p.Phe472Leu) c.7264T>C (p.Phe2422Leu) c.7075T>C (p.Phe2359Leu) c.5479T>C (p.Phe1827Leu) n.7615T>C | |
| 6 | g.51883104A>T | CA364421851 | PKHD1 | c.7339T>A (p.Phe2447Ile) c.6697T>A (p.Phe2233Ile) c.6628T>A (p.Phe2210Ile) c.1414T>A (p.Phe472Ile) c.7264T>A (p.Phe2422Ile) c.7075T>A (p.Phe2359Ile) c.5479T>A (p.Phe1827Ile) n.7615T>A | |
| 6 | g.51883105A>C | CA364421859 | PKHD1 | c.7338T>G (p.His2446Gln) c.6696T>G (p.His2232Gln) c.6627T>G (p.His2209Gln) c.1413T>G (p.His471Gln) c.7263T>G (p.His2421Gln) c.7074T>G (p.His2358Gln) c.5478T>G (p.His1826Gln) n.7614T>G | gnomAD v4 |
| 6 | g.51883105A>G | CA450413672 | PKHD1 | c.7338T>C (p.His2446=) c.6696T>C (p.His2232=) c.6627T>C (p.His2209=) c.1413T>C (p.His471=) c.7263T>C (p.His2421=) c.7074T>C (p.His2358=) c.5478T>C (p.His1826=) n.7614T>C | gnomAD v4 |
| 6 | g.51883105A>T | CA364421858 | PKHD1 | c.7338T>A (p.His2446Gln) c.6696T>A (p.His2232Gln) c.6627T>A (p.His2209Gln) c.1413T>A (p.His471Gln) c.7263T>A (p.His2421Gln) c.7074T>A (p.His2358Gln) c.5478T>A (p.His1826Gln) n.7614T>A | |
| 6 | g.51883106T>A | CA364421867 | PKHD1 | c.7337A>T (p.His2446Leu) c.6695A>T (p.His2232Leu) c.6626A>T (p.His2209Leu) c.1412A>T (p.His471Leu) c.7262A>T (p.His2421Leu) c.7073A>T (p.His2358Leu) c.5477A>T (p.His1826Leu) n.7613A>T | gnomAD v4 |
| 6 | g.51883106T>C | CA364421862 | PKHD1 | c.7337A>G (p.His2446Arg) c.6695A>G (p.His2232Arg) c.6626A>G (p.His2209Arg) c.1412A>G (p.His471Arg) c.7262A>G (p.His2421Arg) c.7073A>G (p.His2358Arg) c.5477A>G (p.His1826Arg) n.7613A>G |