UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51912380A>C | CA450415921 | PKHD1 | c.6318T>G (p.Leu2106=) c.5676T>G (p.Leu1892=) c.5607T>G (p.Leu1869=) c.393T>G (p.Leu131=) c.6243T>G (p.Leu2081=) c.6054T>G (p.Leu2018=) c.4458T>G (p.Leu1486=) n.6594T>G | |
| 6 | g.51912380A>G | CA450415922 | PKHD1 | c.6318T>C (p.Leu2106=) c.5676T>C (p.Leu1892=) c.5607T>C (p.Leu1869=) c.393T>C (p.Leu131=) c.6243T>C (p.Leu2081=) c.6054T>C (p.Leu2018=) c.4458T>C (p.Leu1486=) n.6594T>C | |
| 6 | g.51912380A>T | CA450415923 | PKHD1 | c.6318T>A (p.Leu2106=) c.5676T>A (p.Leu1892=) c.5607T>A (p.Leu1869=) c.393T>A (p.Leu131=) c.6243T>A (p.Leu2081=) c.6054T>A (p.Leu2018=) c.4458T>A (p.Leu1486=) n.6594T>A | |
| 6 | g.51912380_51912383del | CA645561175 | PKHD1 | c.6315_6318del (p.Tyr2105Ter) c.5673_5676del (p.Tyr1891Ter) c.5604_5607del (p.Tyr1868Ter) c.390_393del (p.Tyr130Ter) c.6240_6243del (p.Tyr2080Ter) c.6051_6054del (p.Tyr2017Ter) c.4455_4458del (p.Tyr1485Ter) n.6591_6594del | COSMIC COSMIC |
| 6 | g.51912381A= | CA1628583291 | PKHD1 | c.6317T= (p.Leu2106=) c.5675T= (p.Leu1892=) c.5606T= (p.Leu1869=) c.392T= (p.Leu131=) c.6242T= (p.Leu2081=) c.6053T= (p.Leu2018=) c.4457T= (p.Leu1486=) n.6593T= | |
| 6 | g.51912381A>C | CA364439194 | PKHD1 | c.6317T>G (p.Leu2106Arg) c.5675T>G (p.Leu1892Arg) c.5606T>G (p.Leu1869Arg) c.392T>G (p.Leu131Arg) c.6242T>G (p.Leu2081Arg) c.6053T>G (p.Leu2018Arg) c.4457T>G (p.Leu1486Arg) n.6593T>G | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.51912381A>G | CA364439198 | PKHD1 | c.6317T>C (p.Leu2106Pro) c.5675T>C (p.Leu1892Pro) c.5606T>C (p.Leu1869Pro) c.392T>C (p.Leu131Pro) c.6242T>C (p.Leu2081Pro) c.6053T>C (p.Leu2018Pro) c.4457T>C (p.Leu1486Pro) n.6593T>C | |
| 6 | g.51912381A>T | CA364439196 | PKHD1 | c.6317T>A (p.Leu2106His) c.5675T>A (p.Leu1892His) c.5606T>A (p.Leu1869His) c.392T>A (p.Leu131His) c.6242T>A (p.Leu2081His) c.6053T>A (p.Leu2018His) c.4457T>A (p.Leu1486His) n.6593T>A | |
| 6 | g.51912381_51912398del | CA913110698 | PKHD1 | c.6300_6317del (p.Gln2100_Leu2106delinsHis) c.5658_5675del (p.Gln1886_Leu1892delinsHis) c.5589_5606del (p.Gln1863_Leu1869delinsHis) c.375_392del (p.Gln125_Leu131delinsHis) c.6225_6242del (p.Gln2075_Leu2081delinsHis) c.6036_6053del (p.Gln2012_Leu2018delinsHis) c.4440_4457del (p.Gln1480_Leu1486delinsHis) n.6576_6593del | |
| 6 | g.51912381_51912398delinsAGATAGAGGTCTGTATCC | CA1628583292 | PKHD1 | c.6300_6317delinsGGATACAGACCTCTATCT (p.Gln2100=) c.5658_5675delinsGGATACAGACCTCTATCT (p.Gln1886=) c.5589_5606delinsGGATACAGACCTCTATCT (p.Gln1863=) c.375_392delinsGGATACAGACCTCTATCT (p.Gln125=) c.6225_6242delinsGGATACAGACCTCTATCT (p.Gln2075=) c.6036_6053delinsGGATACAGACCTCTATCT (p.Gln2012=) c.4440_4457delinsGGATACAGACCTCTATCT (p.Gln1480=) n.6576_6593delinsGGATACAGACCTCTATCT | |
| 6 | g.51912382G>A | CA364439201 | PKHD1 | c.6316C>T (p.Leu2106Phe) c.5674C>T (p.Leu1892Phe) c.5605C>T (p.Leu1869Phe) c.391C>T (p.Leu131Phe) c.6241C>T (p.Leu2081Phe) c.6052C>T (p.Leu2018Phe) c.4456C>T (p.Leu1486Phe) n.6592C>T | COSMIC COSMIC |
| 6 | g.51912382G>C | CA364439204 | PKHD1 | c.6316C>G (p.Leu2106Val) c.5674C>G (p.Leu1892Val) c.5605C>G (p.Leu1869Val) c.391C>G (p.Leu131Val) c.6241C>G (p.Leu2081Val) c.6052C>G (p.Leu2018Val) c.4456C>G (p.Leu1486Val) n.6592C>G | gnomAD v4 |
| 6 | g.51912382G>T | CA364439206 | PKHD1 | c.6316C>A (p.Leu2106Ile) c.5674C>A (p.Leu1892Ile) c.5605C>A (p.Leu1869Ile) c.391C>A (p.Leu131Ile) c.6241C>A (p.Leu2081Ile) c.6052C>A (p.Leu2018Ile) c.4456C>A (p.Leu1486Ile) n.6592C>A | |
| 6 | g.51912382_51912398del | CA658822584 | PKHD1 | c.6300_6316del (p.Gln2100HisfsTer2) c.5658_5674del (p.Gln1886HisfsTer2) c.5589_5605del (p.Gln1863HisfsTer2) c.375_391del (p.Gln125HisfsTer2) c.6225_6241del (p.Gln2075HisfsTer2) c.6036_6052del (p.Gln2012HisfsTer2) c.4440_4456del (p.Gln1480HisfsTer2) n.6576_6592del | ClinVar dbSNP |
| 6 | g.51912383A= | CA1628583296 | PKHD1 | c.6315T= (p.Tyr2105=) c.5673T= (p.Tyr1891=) c.5604T= (p.Tyr1868=) c.390T= (p.Tyr130=) c.6240T= (p.Tyr2080=) c.6051T= (p.Tyr2017=) c.4455T= (p.Tyr1485=) n.6591T= | |
| 6 | g.51912383A>C | CA364439209 | PKHD1 | c.6315T>G (p.Tyr2105Ter) c.5673T>G (p.Tyr1891Ter) c.5604T>G (p.Tyr1868Ter) c.390T>G (p.Tyr130Ter) c.6240T>G (p.Tyr2080Ter) c.6051T>G (p.Tyr2017Ter) c.4455T>G (p.Tyr1485Ter) n.6591T>G | |
| 6 | g.51912383A>G | CA450415924 | PKHD1 | c.6315T>C (p.Tyr2105=) c.5673T>C (p.Tyr1891=) c.5604T>C (p.Tyr1868=) c.390T>C (p.Tyr130=) c.6240T>C (p.Tyr2080=) c.6051T>C (p.Tyr2017=) c.4455T>C (p.Tyr1485=) n.6591T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51912383A>T | CA364439211 | PKHD1 | c.6315T>A (p.Tyr2105Ter) c.5673T>A (p.Tyr1891Ter) c.5604T>A (p.Tyr1868Ter) c.390T>A (p.Tyr130Ter) c.6240T>A (p.Tyr2080Ter) c.6051T>A (p.Tyr2017Ter) c.4455T>A (p.Tyr1485Ter) n.6591T>A | |
| 6 | g.51912384T>A | CA364439213 | PKHD1 | c.6314A>T (p.Tyr2105Phe) c.5672A>T (p.Tyr1891Phe) c.5603A>T (p.Tyr1868Phe) c.389A>T (p.Tyr130Phe) c.6239A>T (p.Tyr2080Phe) c.6050A>T (p.Tyr2017Phe) c.4454A>T (p.Tyr1485Phe) n.6590A>T | |
| 6 | g.51912384T>C | CA364439216 | PKHD1 | c.6314A>G (p.Tyr2105Cys) c.5672A>G (p.Tyr1891Cys) c.5603A>G (p.Tyr1868Cys) c.389A>G (p.Tyr130Cys) c.6239A>G (p.Tyr2080Cys) c.6050A>G (p.Tyr2017Cys) c.4454A>G (p.Tyr1485Cys) n.6590A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.51912384T>G | CA364439218 | PKHD1 | c.6314A>C (p.Tyr2105Ser) c.5672A>C (p.Tyr1891Ser) c.5603A>C (p.Tyr1868Ser) c.389A>C (p.Tyr130Ser) c.6239A>C (p.Tyr2080Ser) c.6050A>C (p.Tyr2017Ser) c.4454A>C (p.Tyr1485Ser) n.6590A>C | |
| 6 | g.51912385A>C | CA364439219 | PKHD1 | c.6313T>G (p.Tyr2105Asp) c.5671T>G (p.Tyr1891Asp) c.5602T>G (p.Tyr1868Asp) c.388T>G (p.Tyr130Asp) c.6238T>G (p.Tyr2080Asp) c.6049T>G (p.Tyr2017Asp) c.4453T>G (p.Tyr1485Asp) n.6589T>G | gnomAD v4 |
| 6 | g.51912385A>G | CA364439220 | PKHD1 | c.6313T>C (p.Tyr2105His) c.5671T>C (p.Tyr1891His) c.5602T>C (p.Tyr1868His) c.388T>C (p.Tyr130His) c.6238T>C (p.Tyr2080His) c.6049T>C (p.Tyr2017His) c.4453T>C (p.Tyr1485His) n.6589T>C | gnomAD v4 |
| 6 | g.51912385A>T | CA364439221 | PKHD1 | c.6313T>A (p.Tyr2105Asn) c.5671T>A (p.Tyr1891Asn) c.5602T>A (p.Tyr1868Asn) c.388T>A (p.Tyr130Asn) c.6238T>A (p.Tyr2080Asn) c.6049T>A (p.Tyr2017Asn) c.4453T>A (p.Tyr1485Asn) n.6589T>A | |
| 6 | g.51912387_51912388del | CA2695198866 | PKHD1 | c.6312_6313del (p.Tyr2105SerfsTer2) c.5670_5671del (p.Tyr1891SerfsTer2) c.5601_5602del (p.Tyr1868SerfsTer2) c.387_388del (p.Tyr130SerfsTer2) c.6237_6238del (p.Tyr2080SerfsTer2) c.6048_6049del (p.Tyr2017SerfsTer2) c.4452_4453del (p.Tyr1485SerfsTer2) n.6588_6589del | ClinVar |
| 6 | g.51912386G>A | CA450415927 | PKHD1 | c.6312C>T (p.Leu2104=) c.5670C>T (p.Leu1890=) c.5601C>T (p.Leu1867=) c.387C>T (p.Leu129=) c.6237C>T (p.Leu2079=) c.6048C>T (p.Leu2016=) c.4452C>T (p.Leu1484=) n.6588C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912386G>C | CA450415926 | PKHD1 | c.6312C>G (p.Leu2104=) c.5670C>G (p.Leu1890=) c.5601C>G (p.Leu1867=) c.387C>G (p.Leu129=) c.6237C>G (p.Leu2079=) c.6048C>G (p.Leu2016=) c.4452C>G (p.Leu1484=) n.6588C>G | |
| 6 | g.51912386G= | CA1628583297 | PKHD1 | c.6312C= (p.Leu2104=) c.5670C= (p.Leu1890=) c.5601C= (p.Leu1867=) c.387C= (p.Leu129=) c.6237C= (p.Leu2079=) c.6048C= (p.Leu2016=) c.4452C= (p.Leu1484=) n.6588C= | |
| 6 | g.51912386G>T | CA450415925 | PKHD1 | c.6312C>A (p.Leu2104=) c.5670C>A (p.Leu1890=) c.5601C>A (p.Leu1867=) c.387C>A (p.Leu129=) c.6237C>A (p.Leu2079=) c.6048C>A (p.Leu2016=) c.4452C>A (p.Leu1484=) n.6588C>A | |
| 6 | g.51912387A>C | CA364439227 | PKHD1 | c.6311T>G (p.Leu2104Arg) c.5669T>G (p.Leu1890Arg) c.5600T>G (p.Leu1867Arg) c.386T>G (p.Leu129Arg) c.6236T>G (p.Leu2079Arg) c.6047T>G (p.Leu2016Arg) c.4451T>G (p.Leu1484Arg) n.6587T>G | ClinVar |
| 6 | g.51912387A>G | CA364439228 | PKHD1 | c.6311T>C (p.Leu2104Pro) c.5669T>C (p.Leu1890Pro) c.5600T>C (p.Leu1867Pro) c.386T>C (p.Leu129Pro) c.6236T>C (p.Leu2079Pro) c.6047T>C (p.Leu2016Pro) c.4451T>C (p.Leu1484Pro) n.6587T>C | |
| 6 | g.51912387A>T | CA364439225 | PKHD1 | c.6311T>A (p.Leu2104His) c.5669T>A (p.Leu1890His) c.5600T>A (p.Leu1867His) c.386T>A (p.Leu129His) c.6236T>A (p.Leu2079His) c.6047T>A (p.Leu2016His) c.4451T>A (p.Leu1484His) n.6587T>A | |
| 6 | g.51912388G>A | CA364439230 | PKHD1 | c.6310C>T (p.Leu2104Phe) c.5668C>T (p.Leu1890Phe) c.5599C>T (p.Leu1867Phe) c.385C>T (p.Leu129Phe) c.6235C>T (p.Leu2079Phe) c.6046C>T (p.Leu2016Phe) c.4450C>T (p.Leu1484Phe) n.6586C>T | |
| 6 | g.51912388G>C | CA364439232 | PKHD1 | c.6310C>G (p.Leu2104Val) c.5668C>G (p.Leu1890Val) c.5599C>G (p.Leu1867Val) c.385C>G (p.Leu129Val) c.6235C>G (p.Leu2079Val) c.6046C>G (p.Leu2016Val) c.4450C>G (p.Leu1484Val) n.6586C>G | gnomAD v4 |
| 6 | g.51912388G= | CA1628583298 | PKHD1 | c.6310C= (p.Leu2104=) c.5668C= (p.Leu1890=) c.5599C= (p.Leu1867=) c.385C= (p.Leu129=) c.6235C= (p.Leu2079=) c.6046C= (p.Leu2016=) c.4450C= (p.Leu1484=) n.6586C= | |
| 6 | g.51912388G>T | CA3852300 | PKHD1 | c.6310C>A (p.Leu2104Ile) c.5668C>A (p.Leu1890Ile) c.5599C>A (p.Leu1867Ile) c.385C>A (p.Leu129Ile) c.6235C>A (p.Leu2079Ile) c.6046C>A (p.Leu2016Ile) c.4450C>A (p.Leu1484Ile) n.6586C>A | dbSNP ExAC gnomAD v2 |
| 6 | g.51912389G>A | CA450415928 | PKHD1 | c.6309C>T (p.Asp2103=) c.5667C>T (p.Asp1889=) c.5598C>T (p.Asp1866=) c.384C>T (p.Asp128=) c.6234C>T (p.Asp2078=) c.6045C>T (p.Asp2015=) c.4449C>T (p.Asp1483=) n.6585C>T | |
| 6 | g.51912389G>C | CA364439237 | PKHD1 | c.6309C>G (p.Asp2103Glu) c.5667C>G (p.Asp1889Glu) c.5598C>G (p.Asp1866Glu) c.384C>G (p.Asp128Glu) c.6234C>G (p.Asp2078Glu) c.6045C>G (p.Asp2015Glu) c.4449C>G (p.Asp1483Glu) n.6585C>G | |
| 6 | g.51912389G= | CA1628583301 | PKHD1 | c.6309C= (p.Asp2103=) c.5667C= (p.Asp1889=) c.5598C= (p.Asp1866=) c.384C= (p.Asp128=) c.6234C= (p.Asp2078=) c.6045C= (p.Asp2015=) c.4449C= (p.Asp1483=) n.6585C= | |
| 6 | g.51912389G>T | CA3852301 | PKHD1 | c.6309C>A (p.Asp2103Glu) c.5667C>A (p.Asp1889Glu) c.5598C>A (p.Asp1866Glu) c.384C>A (p.Asp128Glu) c.6234C>A (p.Asp2078Glu) c.6045C>A (p.Asp2015Glu) c.4449C>A (p.Asp1483Glu) n.6585C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912390T>A | CA364439239 | PKHD1 | c.6308A>T (p.Asp2103Val) c.5666A>T (p.Asp1889Val) c.5597A>T (p.Asp1866Val) c.383A>T (p.Asp128Val) c.6233A>T (p.Asp2078Val) c.6044A>T (p.Asp2015Val) c.4448A>T (p.Asp1483Val) n.6584A>T | |
| 6 | g.51912390T>C | CA364439240 | PKHD1 | c.6308A>G (p.Asp2103Gly) c.5666A>G (p.Asp1889Gly) c.5597A>G (p.Asp1866Gly) c.383A>G (p.Asp128Gly) c.6233A>G (p.Asp2078Gly) c.6044A>G (p.Asp2015Gly) c.4448A>G (p.Asp1483Gly) n.6584A>G | gnomAD v4 |
| 6 | g.51912390T>G | CA364439242 | PKHD1 | c.6308A>C (p.Asp2103Ala) c.5666A>C (p.Asp1889Ala) c.5597A>C (p.Asp1866Ala) c.383A>C (p.Asp128Ala) c.6233A>C (p.Asp2078Ala) c.6044A>C (p.Asp2015Ala) c.4448A>C (p.Asp1483Ala) n.6584A>C | |
| 6 | g.51912391C>A | CA364439245 | PKHD1 | c.6307G>T (p.Asp2103Tyr) c.5665G>T (p.Asp1889Tyr) c.5596G>T (p.Asp1866Tyr) c.382G>T (p.Asp128Tyr) c.6232G>T (p.Asp2078Tyr) c.6043G>T (p.Asp2015Tyr) c.4447G>T (p.Asp1483Tyr) n.6583G>T | |
| 6 | g.51912391C>G | CA364439247 | PKHD1 | c.6307G>C (p.Asp2103His) c.5665G>C (p.Asp1889His) c.5596G>C (p.Asp1866His) c.382G>C (p.Asp128His) c.6232G>C (p.Asp2078His) c.6043G>C (p.Asp2015His) c.4447G>C (p.Asp1483His) n.6583G>C | |
| 6 | g.51912391C>T | CA364439249 | PKHD1 | c.6307G>A (p.Asp2103Asn) c.5665G>A (p.Asp1889Asn) c.5596G>A (p.Asp1866Asn) c.382G>A (p.Asp128Asn) c.6232G>A (p.Asp2078Asn) c.6043G>A (p.Asp2015Asn) c.4447G>A (p.Asp1483Asn) n.6583G>A | gnomAD v4 |
| 6 | g.51912392T>A | CA450415929 | PKHD1 | c.6306A>T (p.Thr2102=) c.5664A>T (p.Thr1888=) c.5595A>T (p.Thr1865=) c.381A>T (p.Thr127=) c.6231A>T (p.Thr2077=) c.6042A>T (p.Thr2014=) c.4446A>T (p.Thr1482=) n.6582A>T | |
| 6 | g.51912392T>C | CA3852302 | PKHD1 | c.6306A>G (p.Thr2102=) c.5664A>G (p.Thr1888=) c.5595A>G (p.Thr1865=) c.381A>G (p.Thr127=) c.6231A>G (p.Thr2077=) c.6042A>G (p.Thr2014=) c.4446A>G (p.Thr1482=) n.6582A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912392T>G | CA450415930 | PKHD1 | c.6306A>C (p.Thr2102=) c.5664A>C (p.Thr1888=) c.5595A>C (p.Thr1865=) c.381A>C (p.Thr127=) c.6231A>C (p.Thr2077=) c.6042A>C (p.Thr2014=) c.4446A>C (p.Thr1482=) n.6582A>C | |
| 6 | g.51912392T= | CA1628583305 | PKHD1 | c.6306A= (p.Thr2102=) c.5664A= (p.Thr1888=) c.5595A= (p.Thr1865=) c.381A= (p.Thr127=) c.6231A= (p.Thr2077=) c.6042A= (p.Thr2014=) c.4446A= (p.Thr1482=) n.6582A= |