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.52024732A>C | CA364428780 | PKHD1 | c.5078T>G (p.Val1693Gly) c.4436T>G (p.Val1479Gly) c.4367T>G (p.Val1456Gly) c.5003T>G (p.Val1668Gly) c.4814T>G (p.Val1605Gly) c.3218T>G (p.Val1073Gly) n.5354T>G | |
| 6 | g.52024732A>G | CA364428778 | PKHD1 | c.5078T>C (p.Val1693Ala) c.4436T>C (p.Val1479Ala) c.4367T>C (p.Val1456Ala) c.5003T>C (p.Val1668Ala) c.4814T>C (p.Val1605Ala) c.3218T>C (p.Val1073Ala) n.5354T>C | |
| 6 | g.52024732A>T | CA364428776 | PKHD1 | c.5078T>A (p.Val1693Glu) c.4436T>A (p.Val1479Glu) c.4367T>A (p.Val1456Glu) c.5003T>A (p.Val1668Glu) c.4814T>A (p.Val1605Glu) c.3218T>A (p.Val1073Glu) n.5354T>A | |
| 6 | g.52024733C>A | CA364428783 | PKHD1 | c.5077G>T (p.Val1693Leu) c.4435G>T (p.Val1479Leu) c.4366G>T (p.Val1456Leu) c.5002G>T (p.Val1668Leu) c.4813G>T (p.Val1605Leu) c.3217G>T (p.Val1073Leu) n.5353G>T | gnomAD v4 |
| 6 | g.52024733C>G | CA364428791 | PKHD1 | c.5077G>C (p.Val1693Leu) c.4435G>C (p.Val1479Leu) c.4366G>C (p.Val1456Leu) c.5002G>C (p.Val1668Leu) c.4813G>C (p.Val1605Leu) c.3217G>C (p.Val1073Leu) n.5353G>C | |
| 6 | g.52024733C>T | CA364428786 | PKHD1 | c.5077G>A (p.Val1693Met) c.4435G>A (p.Val1479Met) c.4366G>A (p.Val1456Met) c.5002G>A (p.Val1668Met) c.4813G>A (p.Val1605Met) c.3217G>A (p.Val1073Met) n.5353G>A | gnomAD v4 |
| 6 | g.52024734A>C | CA364428793 | PKHD1 | c.5076T>G (p.Cys1692Trp) c.4434T>G (p.Cys1478Trp) c.4365T>G (p.Cys1455Trp) c.5001T>G (p.Cys1667Trp) c.4812T>G (p.Cys1604Trp) c.3216T>G (p.Cys1072Trp) n.5352T>G | |
| 6 | g.52024734A>G | CA450418906 | PKHD1 | c.5076T>C (p.Cys1692=) c.4434T>C (p.Cys1478=) c.4365T>C (p.Cys1455=) c.5001T>C (p.Cys1667=) c.4812T>C (p.Cys1604=) c.3216T>C (p.Cys1072=) n.5352T>C | dbSNP |
| 6 | g.52024734A>T | CA364428795 | PKHD1 | c.5076T>A (p.Cys1692Ter) c.4434T>A (p.Cys1478Ter) c.4365T>A (p.Cys1455Ter) c.5001T>A (p.Cys1667Ter) c.4812T>A (p.Cys1604Ter) c.3216T>A (p.Cys1072Ter) n.5352T>A | |
| 6 | g.52024735C>A | CA364428798 | PKHD1 | c.5075G>T (p.Cys1692Phe) c.4433G>T (p.Cys1478Phe) c.4364G>T (p.Cys1455Phe) c.5000G>T (p.Cys1667Phe) c.4811G>T (p.Cys1604Phe) c.3215G>T (p.Cys1072Phe) n.5351G>T | |
| 6 | g.52024735C= | CA1628646556 | PKHD1 | c.5075G= (p.Cys1692=) c.4433G= (p.Cys1478=) c.4364G= (p.Cys1455=) c.5000G= (p.Cys1667=) c.4811G= (p.Cys1604=) c.3215G= (p.Cys1072=) n.5351G= | |
| 6 | g.52024735C>G | CA364428800 | PKHD1 | c.5075G>C (p.Cys1692Ser) c.4433G>C (p.Cys1478Ser) c.4364G>C (p.Cys1455Ser) c.5000G>C (p.Cys1667Ser) c.4811G>C (p.Cys1604Ser) c.3215G>C (p.Cys1072Ser) n.5351G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52024735C>T | CA364428801 | PKHD1 | c.5075G>A (p.Cys1692Tyr) c.4433G>A (p.Cys1478Tyr) c.4364G>A (p.Cys1455Tyr) c.5000G>A (p.Cys1667Tyr) c.4811G>A (p.Cys1604Tyr) c.3215G>A (p.Cys1072Tyr) n.5351G>A | ClinVar gnomAD v4 |
| 6 | g.52024736A>C | CA364428803 | PKHD1 | c.5074T>G (p.Cys1692Gly) c.4432T>G (p.Cys1478Gly) c.4363T>G (p.Cys1455Gly) c.4999T>G (p.Cys1667Gly) c.4810T>G (p.Cys1604Gly) c.3214T>G (p.Cys1072Gly) n.5350T>G | |
| 6 | g.52024736A>G | CA364428805 | PKHD1 | c.5074T>C (p.Cys1692Arg) c.4432T>C (p.Cys1478Arg) c.4363T>C (p.Cys1455Arg) c.4999T>C (p.Cys1667Arg) c.4810T>C (p.Cys1604Arg) c.3214T>C (p.Cys1072Arg) n.5350T>C | |
| 6 | g.52024736A>T | CA364428806 | PKHD1 | c.5074T>A (p.Cys1692Ser) c.4432T>A (p.Cys1478Ser) c.4363T>A (p.Cys1455Ser) c.4999T>A (p.Cys1667Ser) c.4810T>A (p.Cys1604Ser) c.3214T>A (p.Cys1072Ser) n.5350T>A | |
| 6 | g.52024737G>A | CA450418915 | PKHD1 | c.5073C>T (p.Pro1691=) c.4431C>T (p.Pro1477=) c.4362C>T (p.Pro1454=) c.4998C>T (p.Pro1666=) c.4809C>T (p.Pro1603=) c.3213C>T (p.Pro1071=) n.5349C>T | |
| 6 | g.52024737G>C | CA450418916 | PKHD1 | c.5073C>G (p.Pro1691=) c.4431C>G (p.Pro1477=) c.4362C>G (p.Pro1454=) c.4998C>G (p.Pro1666=) c.4809C>G (p.Pro1603=) c.3213C>G (p.Pro1071=) n.5349C>G | |
| 6 | g.52024737G>T | CA450418918 | PKHD1 | c.5073C>A (p.Pro1691=) c.4431C>A (p.Pro1477=) c.4362C>A (p.Pro1454=) c.4998C>A (p.Pro1666=) c.4809C>A (p.Pro1603=) c.3213C>A (p.Pro1071=) n.5349C>A | |
| 6 | g.52024738G>A | CA364428808 | PKHD1 | c.5072C>T (p.Pro1691Leu) c.4430C>T (p.Pro1477Leu) c.4361C>T (p.Pro1454Leu) c.4997C>T (p.Pro1666Leu) c.4808C>T (p.Pro1603Leu) c.3212C>T (p.Pro1071Leu) n.5348C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52024738G>C | CA364428809 | PKHD1 | c.5072C>G (p.Pro1691Arg) c.4430C>G (p.Pro1477Arg) c.4361C>G (p.Pro1454Arg) c.4997C>G (p.Pro1666Arg) c.4808C>G (p.Pro1603Arg) c.3212C>G (p.Pro1071Arg) n.5348C>G | |
| 6 | g.52024738G= | CA1628646561 | PKHD1 | c.5072C= (p.Pro1691=) c.4430C= (p.Pro1477=) c.4361C= (p.Pro1454=) c.4997C= (p.Pro1666=) c.4808C= (p.Pro1603=) c.3212C= (p.Pro1071=) n.5348C= | |
| 6 | g.52024738G>T | CA364428810 | PKHD1 | c.5072C>A (p.Pro1691His) c.4430C>A (p.Pro1477His) c.4361C>A (p.Pro1454His) c.4997C>A (p.Pro1666His) c.4808C>A (p.Pro1603His) c.3212C>A (p.Pro1071His) n.5348C>A | |
| 6 | g.52024739G>A | CA364428815 | PKHD1 | c.5071C>T (p.Pro1691Ser) c.4429C>T (p.Pro1477Ser) c.4360C>T (p.Pro1454Ser) c.4996C>T (p.Pro1666Ser) c.4807C>T (p.Pro1603Ser) c.3211C>T (p.Pro1071Ser) n.5347C>T | |
| 6 | g.52024739G>C | CA364428813 | PKHD1 | c.5071C>G (p.Pro1691Ala) c.4429C>G (p.Pro1477Ala) c.4360C>G (p.Pro1454Ala) c.4996C>G (p.Pro1666Ala) c.4807C>G (p.Pro1603Ala) c.3211C>G (p.Pro1071Ala) n.5347C>G | |
| 6 | g.52024739G>T | CA364428812 | PKHD1 | c.5071C>A (p.Pro1691Thr) c.4429C>A (p.Pro1477Thr) c.4360C>A (p.Pro1454Thr) c.4996C>A (p.Pro1666Thr) c.4807C>A (p.Pro1603Thr) c.3211C>A (p.Pro1071Thr) n.5347C>A | |
| 6 | g.52024740T>A | CA450418926 | PKHD1 | c.5070A>T (p.Ser1690=) c.4428A>T (p.Ser1476=) c.4359A>T (p.Ser1453=) c.4995A>T (p.Ser1665=) c.4806A>T (p.Ser1602=) c.3210A>T (p.Ser1070=) n.5346A>T | dbSNP |
| 6 | g.52024740T>C | CA450418928 | PKHD1 | c.5070A>G (p.Ser1690=) c.4428A>G (p.Ser1476=) c.4359A>G (p.Ser1453=) c.4995A>G (p.Ser1665=) c.4806A>G (p.Ser1602=) c.3210A>G (p.Ser1070=) n.5346A>G | |
| 6 | g.52024740T>G | CA450418929 | PKHD1 | c.5070A>C (p.Ser1690=) c.4428A>C (p.Ser1476=) c.4359A>C (p.Ser1453=) c.4995A>C (p.Ser1665=) c.4806A>C (p.Ser1602=) c.3210A>C (p.Ser1070=) n.5346A>C | |
| 6 | g.52024740T= | CA1628646565 | PKHD1 | c.5070A= (p.Ser1690=) c.4428A= (p.Ser1476=) c.4359A= (p.Ser1453=) c.4995A= (p.Ser1665=) c.4806A= (p.Ser1602=) c.3210A= (p.Ser1070=) n.5346A= | |
| 6 | g.52024741G>A | CA364428817 | PKHD1 | c.5069C>T (p.Ser1690Leu) c.4427C>T (p.Ser1476Leu) c.4358C>T (p.Ser1453Leu) c.4994C>T (p.Ser1665Leu) c.4805C>T (p.Ser1602Leu) c.3209C>T (p.Ser1070Leu) n.5345C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52024741G>C | CA364428819 | PKHD1 | c.5069C>G (p.Ser1690Ter) c.4427C>G (p.Ser1476Ter) c.4358C>G (p.Ser1453Ter) c.4994C>G (p.Ser1665Ter) c.4805C>G (p.Ser1602Ter) c.3209C>G (p.Ser1070Ter) n.5345C>G | |
| 6 | g.52024741G= | CA1628646568 | PKHD1 | c.5069C= (p.Ser1690=) c.4427C= (p.Ser1476=) c.4358C= (p.Ser1453=) c.4994C= (p.Ser1665=) c.4805C= (p.Ser1602=) c.3209C= (p.Ser1070=) n.5345C= | |
| 6 | g.52024741G>T | CA364428820 | PKHD1 | c.5069C>A (p.Ser1690Ter) c.4427C>A (p.Ser1476Ter) c.4358C>A (p.Ser1453Ter) c.4994C>A (p.Ser1665Ter) c.4805C>A (p.Ser1602Ter) c.3209C>A (p.Ser1070Ter) n.5345C>A | ClinVar dbSNP |
| 6 | g.52024742A>C | CA364428825 | PKHD1 | c.5068T>G (p.Ser1690Ala) c.4426T>G (p.Ser1476Ala) c.4357T>G (p.Ser1453Ala) c.4993T>G (p.Ser1665Ala) c.4804T>G (p.Ser1602Ala) c.3208T>G (p.Ser1070Ala) n.5344T>G | |
| 6 | g.52024742A>G | CA364428830 | PKHD1 | c.5068T>C (p.Ser1690Pro) c.4426T>C (p.Ser1476Pro) c.4357T>C (p.Ser1453Pro) c.4993T>C (p.Ser1665Pro) c.4804T>C (p.Ser1602Pro) c.3208T>C (p.Ser1070Pro) n.5344T>C | |
| 6 | g.52024742A>T | CA364428832 | PKHD1 | c.5068T>A (p.Ser1690Thr) c.4426T>A (p.Ser1476Thr) c.4357T>A (p.Ser1453Thr) c.4993T>A (p.Ser1665Thr) c.4804T>A (p.Ser1602Thr) c.3208T>A (p.Ser1070Thr) n.5344T>A | |
| 6 | g.52024743C>A | CA364428841 | PKHD1 | c.5067G>T (p.Met1689Ile) c.4425G>T (p.Met1475Ile) c.4356G>T (p.Met1452Ile) c.4992G>T (p.Met1664Ile) c.4803G>T (p.Met1601Ile) c.3207G>T (p.Met1069Ile) n.5343G>T | |
| 6 | g.52024743C>G | CA364428843 | PKHD1 | c.5067G>C (p.Met1689Ile) c.4425G>C (p.Met1475Ile) c.4356G>C (p.Met1452Ile) c.4992G>C (p.Met1664Ile) c.4803G>C (p.Met1601Ile) c.3207G>C (p.Met1069Ile) n.5343G>C | |
| 6 | g.52024743C>T | CA364428848 | PKHD1 | c.5067G>A (p.Met1689Ile) c.4425G>A (p.Met1475Ile) c.4356G>A (p.Met1452Ile) c.4992G>A (p.Met1664Ile) c.4803G>A (p.Met1601Ile) c.3207G>A (p.Met1069Ile) n.5343G>A | |
| 6 | g.52024744A= | CA1628646573 | PKHD1 | c.5066T= (p.Met1689=) c.4424T= (p.Met1475=) c.4355T= (p.Met1452=) c.4991T= (p.Met1664=) c.4802T= (p.Met1601=) c.3206T= (p.Met1069=) n.5342T= | |
| 6 | g.52024744A>C | CA364428850 | PKHD1 | c.5066T>G (p.Met1689Arg) c.4424T>G (p.Met1475Arg) c.4355T>G (p.Met1452Arg) c.4991T>G (p.Met1664Arg) c.4802T>G (p.Met1601Arg) c.3206T>G (p.Met1069Arg) n.5342T>G | |
| 6 | g.52024744A>G | CA364428852 | PKHD1 | c.5066T>C (p.Met1689Thr) c.4424T>C (p.Met1475Thr) c.4355T>C (p.Met1452Thr) c.4991T>C (p.Met1664Thr) c.4802T>C (p.Met1601Thr) c.3206T>C (p.Met1069Thr) n.5342T>C | dbSNP gnomAD v2 |
| 6 | g.52024744A>T | CA364428853 | PKHD1 | c.5066T>A (p.Met1689Lys) c.4424T>A (p.Met1475Lys) c.4355T>A (p.Met1452Lys) c.4991T>A (p.Met1664Lys) c.4802T>A (p.Met1601Lys) c.3206T>A (p.Met1069Lys) n.5342T>A | gnomAD v4 |
| 6 | g.52024744_52024745delinsAT | CA1628646571 | PKHD1 | c.5065_5066delinsAT (p.Met1689=) c.4423_4424delinsAT (p.Met1475=) c.4354_4355delinsAT (p.Met1452=) c.4990_4991delinsAT (p.Met1664=) c.4801_4802delinsAT (p.Met1601=) c.3205_3206delinsAT (p.Met1069=) n.5341_5342delinsAT | |
| 6 | g.52024745T>A | CA364428859 | PKHD1 | c.5065A>T (p.Met1689Leu) c.4423A>T (p.Met1475Leu) c.4354A>T (p.Met1452Leu) c.4990A>T (p.Met1664Leu) c.4801A>T (p.Met1601Leu) c.3205A>T (p.Met1069Leu) n.5341A>T | |
| 6 | g.52024745T>C | CA364428857 | PKHD1 | c.5065A>G (p.Met1689Val) c.4423A>G (p.Met1475Val) c.4354A>G (p.Met1452Val) c.4990A>G (p.Met1664Val) c.4801A>G (p.Met1601Val) c.3205A>G (p.Met1069Val) n.5341A>G | |
| 6 | g.52024745T>G | CA364428855 | PKHD1 | c.5065A>C (p.Met1689Leu) c.4423A>C (p.Met1475Leu) c.4354A>C (p.Met1452Leu) c.4990A>C (p.Met1664Leu) c.4801A>C (p.Met1601Leu) c.3205A>C (p.Met1069Leu) n.5341A>C | |
| 6 | g.52024746del | CA658683444 | PKHD1 | c.5065del (p.Met1689CysfsTer?) c.4423del (p.Met1475CysfsTer?) c.4354del (p.Met1452CysfsTer?) c.4990del (p.Met1664CysfsTer?) c.4801del (p.Met1601CysfsTer?) c.3205del (p.Met1069CysfsTer?) n.5341del | ClinVar dbSNP |
| 6 | g.52024746T>A | CA450418946 | PKHD1 | c.5064A>T (p.Gly1688=) c.4422A>T (p.Gly1474=) c.4353A>T (p.Gly1451=) c.4989A>T (p.Gly1663=) c.4800A>T (p.Gly1600=) c.3204A>T (p.Gly1068=) n.5340A>T |