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.107210483G>A | CA114833 | PDSS2 | c.964C>T (p.Gln322Ter) c.139C>T (p.Gln47Ter) c.876+1626C>T (n.876+1626C>T) c.829C>T (p.Gln277Ter) c.556C>T (p.Gln186Ter) c.703-16629C>T (n.703-16629C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.107210483G>C | CA3945972 | PDSS2 | c.964C>G (p.Gln322Glu) c.139C>G (p.Gln47Glu) c.876+1626C>G (n.876+1626C>G) c.829C>G (p.Gln277Glu) c.556C>G (p.Gln186Glu) c.703-16629C>G (n.703-16629C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.107210483G= | CA1653786350 | PDSS2 | c.964C= (p.Gln322=) c.139C= (p.Gln47=) c.876+1626C= (n.876+1626C=) c.829C= (p.Gln277=) c.556C= (p.Gln186=) c.703-16629C= (n.703-16629C=) | |
| 6 | g.107210483G>T | CA365322518 | PDSS2 | c.964C>A (p.Gln322Lys) c.139C>A (p.Gln47Lys) c.876+1626C>A (n.876+1626C>A) c.829C>A (p.Gln277Lys) c.556C>A (p.Gln186Lys) c.703-16629C>A (n.703-16629C>A) | |
| 6 | g.107210484del | CA2679872478 | PDSS2 | c.963del (p.Gln322ArgfsTer?) c.138del (p.Gln47ArgfsTer?) c.876+1625del (n.876+1625del) c.828del (p.Gln277ArgfsTer?) c.555del (p.Gln186ArgfsTer?) c.703-16630del (n.703-16630del) | gnomAD v4 |
| 6 | g.107210484A>C | CA365322519 | PDSS2 | c.963T>G (p.His321Gln) c.138T>G (p.His46Gln) c.876+1625T>G (n.876+1625T>G) c.828T>G (p.His276Gln) c.555T>G (p.His185Gln) c.703-16630T>G (n.703-16630T>G) | |
| 6 | g.107210484A>G | CA451563346 | PDSS2 | c.963T>C (p.His321=) c.138T>C (p.His46=) c.876+1625T>C (n.876+1625T>C) c.828T>C (p.His276=) c.555T>C (p.His185=) c.703-16630T>C (n.703-16630T>C) | |
| 6 | g.107210484A>T | CA365322520 | PDSS2 | c.963T>A (p.His321Gln) c.138T>A (p.His46Gln) c.876+1625T>A (n.876+1625T>A) c.828T>A (p.His276Gln) c.555T>A (p.His185Gln) c.703-16630T>A (n.703-16630T>A) | |
| 6 | g.107210485T>A | CA365322523 | PDSS2 | c.962A>T (p.His321Leu) c.137A>T (p.His46Leu) c.876+1624A>T (n.876+1624A>T) c.827A>T (p.His276Leu) c.554A>T (p.His185Leu) c.703-16631A>T (n.703-16631A>T) | dbSNP |
| 6 | g.107210485T>C | CA365322521 | PDSS2 | c.962A>G (p.His321Arg) c.137A>G (p.His46Arg) c.876+1624A>G (n.876+1624A>G) c.827A>G (p.His276Arg) c.554A>G (p.His185Arg) c.703-16631A>G (n.703-16631A>G) | dbSNP |
| 6 | g.107210485T>G | CA365322522 | PDSS2 | c.962A>C (p.His321Pro) c.137A>C (p.His46Pro) c.876+1624A>C (n.876+1624A>C) c.827A>C (p.His276Pro) c.554A>C (p.His185Pro) c.703-16631A>C (n.703-16631A>C) | |
| 6 | g.107210485T= | CA1653786351 | PDSS2 | c.962A= (p.His321=) c.137A= (p.His46=) c.876+1624A= (n.876+1624A=) c.827A= (p.His276=) c.554A= (p.His185=) c.703-16631A= (n.703-16631A=) | |
| 6 | g.107210486G>A | CA365322524 | PDSS2 | c.961C>T (p.His321Tyr) c.136C>T (p.His46Tyr) c.876+1623C>T (n.876+1623C>T) c.826C>T (p.His276Tyr) c.553C>T (p.His185Tyr) c.703-16632C>T (n.703-16632C>T) | |
| 6 | g.107210486G>C | CA365322525 | PDSS2 | c.961C>G (p.His321Asp) c.136C>G (p.His46Asp) c.876+1623C>G (n.876+1623C>G) c.826C>G (p.His276Asp) c.553C>G (p.His185Asp) c.703-16632C>G (n.703-16632C>G) | |
| 6 | g.107210486G>T | CA365322526 | PDSS2 | c.961C>A (p.His321Asn) c.136C>A (p.His46Asn) c.876+1623C>A (n.876+1623C>A) c.826C>A (p.His276Asn) c.553C>A (p.His185Asn) c.703-16632C>A (n.703-16632C>A) | gnomAD v4 |
| 6 | g.107210486_107210488del | CA2679872479 | PDSS2 | c.959_961del (p.Leu320_His321delinsTyr) c.134_136del (p.Leu45_His46delinsTyr) c.876+1621_876+1623del (n.876+1621_876+1623del) c.824_826del (p.Leu275_His276delinsTyr) c.551_553del (p.Leu184_His185delinsTyr) c.703-16634_703-16632del (n.703-16634_703-16632del) | gnomAD v4 |
| 6 | g.107210487T>A | CA365322527 | PDSS2 | c.960A>T (p.Leu320Phe) c.135A>T (p.Leu45Phe) c.876+1622A>T (n.876+1622A>T) c.825A>T (p.Leu275Phe) c.552A>T (p.Leu184Phe) c.703-16633A>T (n.703-16633A>T) | |
| 6 | g.107210487T>C | CA451563347 | PDSS2 | c.960A>G (p.Leu320=) c.135A>G (p.Leu45=) c.876+1622A>G (n.876+1622A>G) c.825A>G (p.Leu275=) c.552A>G (p.Leu184=) c.703-16633A>G (n.703-16633A>G) | gnomAD v4 |
| 6 | g.107210487T>G | CA365322528 | PDSS2 | c.960A>C (p.Leu320Phe) c.135A>C (p.Leu45Phe) c.876+1622A>C (n.876+1622A>C) c.825A>C (p.Leu275Phe) c.552A>C (p.Leu184Phe) c.703-16633A>C (n.703-16633A>C) | |
| 6 | g.107210488A= | CA1653786352 | PDSS2 | c.959T= (p.Leu320=) c.134T= (p.Leu45=) c.876+1621T= (n.876+1621T=) c.824T= (p.Leu275=) c.551T= (p.Leu184=) c.703-16634T= (n.703-16634T=) | |
| 6 | g.107210488A>C | CA365322529 | PDSS2 | c.959T>G (p.Leu320Ter) c.134T>G (p.Leu45Ter) c.876+1621T>G (n.876+1621T>G) c.824T>G (p.Leu275Ter) c.551T>G (p.Leu184Ter) c.703-16634T>G (n.703-16634T>G) | |
| 6 | g.107210488A>G | CA365322530 | PDSS2 | c.959T>C (p.Leu320Ser) c.134T>C (p.Leu45Ser) c.876+1621T>C (n.876+1621T>C) c.824T>C (p.Leu275Ser) c.551T>C (p.Leu184Ser) c.703-16634T>C (n.703-16634T>C) | dbSNP |
| 6 | g.107210488A>T | CA365322531 | PDSS2 | c.959T>A (p.Leu320Ter) c.134T>A (p.Leu45Ter) c.876+1621T>A (n.876+1621T>A) c.824T>A (p.Leu275Ter) c.551T>A (p.Leu184Ter) c.703-16634T>A (n.703-16634T>A) | |
| 6 | g.107210489A>C | CA365322532 | PDSS2 | c.958T>G (p.Leu320Val) c.133T>G (p.Leu45Val) c.876+1620T>G (n.876+1620T>G) c.823T>G (p.Leu275Val) c.550T>G (p.Leu184Val) c.703-16635T>G (n.703-16635T>G) | |
| 6 | g.107210489A>G | CA451563348 | PDSS2 | c.958T>C (p.Leu320=) c.133T>C (p.Leu45=) c.876+1620T>C (n.876+1620T>C) c.823T>C (p.Leu275=) c.550T>C (p.Leu184=) c.703-16635T>C (n.703-16635T>C) | |
| 6 | g.107210489A>T | CA365322533 | PDSS2 | c.958T>A (p.Leu320Ile) c.133T>A (p.Leu45Ile) c.876+1620T>A (n.876+1620T>A) c.823T>A (p.Leu275Ile) c.550T>A (p.Leu184Ile) c.703-16635T>A (n.703-16635T>A) | |
| 6 | g.107210490G>A | CA451563351 | PDSS2 | c.957C>T (p.Val319=) c.132C>T (p.Val44=) c.876+1619C>T (n.876+1619C>T) c.822C>T (p.Val274=) c.549C>T (p.Val183=) c.703-16636C>T (n.703-16636C>T) | |
| 6 | g.107210490G>C | CA451563349 | PDSS2 | c.957C>G (p.Val319=) c.132C>G (p.Val44=) c.876+1619C>G (n.876+1619C>G) c.822C>G (p.Val274=) c.549C>G (p.Val183=) c.703-16636C>G (n.703-16636C>G) | |
| 6 | g.107210490G>T | CA451563350 | PDSS2 | c.957C>A (p.Val319=) c.132C>A (p.Val44=) c.876+1619C>A (n.876+1619C>A) c.822C>A (p.Val274=) c.549C>A (p.Val183=) c.703-16636C>A (n.703-16636C>A) | |
| 6 | g.107210490_107210493del | CA2679872480 | PDSS2 | c.954_957del (p.Val319TyrfsTer?) c.129_132del (p.Val44TyrfsTer?) c.876+1616_876+1619del (n.876+1616_876+1619del) c.819_822del (p.Val274TyrfsTer?) c.546_549del (p.Val183TyrfsTer?) c.703-16639_703-16636del (n.703-16639_703-16636del) | gnomAD v4 |
| 6 | g.107210491A>C | CA365322535 | PDSS2 | c.956T>G (p.Val319Gly) c.131T>G (p.Val44Gly) c.876+1618T>G (n.876+1618T>G) c.821T>G (p.Val274Gly) c.548T>G (p.Val183Gly) c.703-16637T>G (n.703-16637T>G) | |
| 6 | g.107210491A>G | CA365322536 | PDSS2 | c.956T>C (p.Val319Ala) c.131T>C (p.Val44Ala) c.876+1618T>C (n.876+1618T>C) c.821T>C (p.Val274Ala) c.548T>C (p.Val183Ala) c.703-16637T>C (n.703-16637T>C) | |
| 6 | g.107210491A>T | CA365322534 | PDSS2 | c.956T>A (p.Val319Asp) c.131T>A (p.Val44Asp) c.876+1618T>A (n.876+1618T>A) c.821T>A (p.Val274Asp) c.548T>A (p.Val183Asp) c.703-16637T>A (n.703-16637T>A) | gnomAD v4 |
| 6 | g.107210492C>A | CA365322537 | PDSS2 | c.955G>T (p.Val319Phe) c.130G>T (p.Val44Phe) c.876+1617G>T (n.876+1617G>T) c.820G>T (p.Val274Phe) c.547G>T (p.Val183Phe) c.703-16638G>T (n.703-16638G>T) | |
| 6 | g.107210492C>G | CA365322538 | PDSS2 | c.955G>C (p.Val319Leu) c.130G>C (p.Val44Leu) c.876+1617G>C (n.876+1617G>C) c.820G>C (p.Val274Leu) c.547G>C (p.Val183Leu) c.703-16638G>C (n.703-16638G>C) | |
| 6 | g.107210492C>T | CA365322539 | PDSS2 | c.955G>A (p.Val319Ile) c.130G>A (p.Val44Ile) c.876+1617G>A (n.876+1617G>A) c.820G>A (p.Val274Ile) c.547G>A (p.Val183Ile) c.703-16638G>A (n.703-16638G>A) | |
| 6 | g.107210493T>A | CA451563354 | PDSS2 | c.954A>T (p.Val318=) c.129A>T (p.Val43=) c.876+1616A>T (n.876+1616A>T) c.819A>T (p.Val273=) c.546A>T (p.Val182=) c.703-16639A>T (n.703-16639A>T) | |
| 6 | g.107210493T>C | CA451563356 | PDSS2 | c.954A>G (p.Val318=) c.129A>G (p.Val43=) c.876+1616A>G (n.876+1616A>G) c.819A>G (p.Val273=) c.546A>G (p.Val182=) c.703-16639A>G (n.703-16639A>G) | gnomAD v4 |
| 6 | g.107210493T>G | CA451563355 | PDSS2 | c.954A>C (p.Val318=) c.129A>C (p.Val43=) c.876+1616A>C (n.876+1616A>C) c.819A>C (p.Val273=) c.546A>C (p.Val182=) c.703-16639A>C (n.703-16639A>C) | |
| 6 | g.107210493dup | CA2679872481 | PDSS2 | c.954dup (p.Val319SerfsTer14) c.129dup (p.Val44SerfsTer14) c.876+1616dup (n.876+1616dup) c.819dup (p.Val274SerfsTer14) c.546dup (p.Val183SerfsTer14) c.703-16639dup (n.703-16639dup) | gnomAD v4 |
| 6 | g.107210494A>C | CA365322540 | PDSS2 | c.953T>G (p.Val318Gly) c.128T>G (p.Val43Gly) c.876+1615T>G (n.876+1615T>G) c.818T>G (p.Val273Gly) c.545T>G (p.Val182Gly) c.703-16640T>G (n.703-16640T>G) | |
| 6 | g.107210494A>G | CA365322541 | PDSS2 | c.953T>C (p.Val318Ala) c.128T>C (p.Val43Ala) c.876+1615T>C (n.876+1615T>C) c.818T>C (p.Val273Ala) c.545T>C (p.Val182Ala) c.703-16640T>C (n.703-16640T>C) | gnomAD v4 |
| 6 | g.107210494A>T | CA365322542 | PDSS2 | c.953T>A (p.Val318Glu) c.128T>A (p.Val43Glu) c.876+1615T>A (n.876+1615T>A) c.818T>A (p.Val273Glu) c.545T>A (p.Val182Glu) c.703-16640T>A (n.703-16640T>A) | |
| 6 | g.107210495C>A | CA365322543 | PDSS2 | c.952G>T (p.Val318Leu) c.127G>T (p.Val43Leu) c.876+1614G>T (n.876+1614G>T) c.817G>T (p.Val273Leu) c.544G>T (p.Val182Leu) c.703-16641G>T (n.703-16641G>T) | |
| 6 | g.107210495C= | CA1653786353 | PDSS2 | c.952G= (p.Val318=) c.127G= (p.Val43=) c.876+1614G= (n.876+1614G=) c.817G= (p.Val273=) c.544G= (p.Val182=) c.703-16641G= (n.703-16641G=) | |
| 6 | g.107210495C>G | CA365322544 | PDSS2 | c.952G>C (p.Val318Leu) c.127G>C (p.Val43Leu) c.876+1614G>C (n.876+1614G>C) c.817G>C (p.Val273Leu) c.544G>C (p.Val182Leu) c.703-16641G>C (n.703-16641G>C) | |
| 6 | g.107210495C>T | CA145597787 | PDSS2 | c.952G>A (p.Val318Ile) c.127G>A (p.Val43Ile) c.876+1614G>A (n.876+1614G>A) c.817G>A (p.Val273Ile) c.544G>A (p.Val182Ile) c.703-16641G>A (n.703-16641G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.107210496_107210497insTCA | CA2679872482 | PDSS2 | c.952_953insATG (p.Pro317_Val318insAsp) c.127_128insATG (p.Pro42_Val43insAsp) c.876+1614_876+1615insATG (n.876+1614_876+1615insATG) c.817_818insATG (p.Pro272_Val273insAsp) c.544_545insATG (p.Pro181_Val182insAsp) c.703-16641_703-16640insATG (n.703-16641_703-16640insATG) | gnomAD v4 |
| 6 | g.107210496A= | CA1653786354 | PDSS2 | c.951T= (p.Pro317=) c.126T= (p.Pro42=) c.876+1613T= (n.876+1613T=) c.816T= (p.Pro272=) c.543T= (p.Pro181=) c.703-16642T= (n.703-16642T=) | |
| 6 | g.107210496A>C | CA451563357 | PDSS2 | c.951T>G (p.Pro317=) c.126T>G (p.Pro42=) c.876+1613T>G (n.876+1613T>G) c.816T>G (p.Pro272=) c.543T>G (p.Pro181=) c.703-16642T>G (n.703-16642T>G) |