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 |
|---|---|---|---|---|---|
| X | g.50081625T>C | CA2693736641 | CLCN5 | c.727-16T>C (n.727-16T>C) c.517-16T>C (n.517-16T>C) c.1014-16T>C c.577-16T>C (n.577-16T>C) c.739-16T>C (n.739-16T>C) | gnomAD v4 |
| X | g.50081628_50081629del | CA2579610673 | CLCN5 | c.727-13_727-12del (n.727-13_727-12del) c.517-13_517-12del (n.517-13_517-12del) c.1014-13_1014-12del c.577-13_577-12del (n.577-13_577-12del) c.739-13_739-12del (n.739-13_739-12del) | |
| X | g.50081626G>C | CA641790989 | CLCN5 | c.727-15G>C (n.727-15G>C) c.517-15G>C (n.517-15G>C) c.1014-15G>C c.577-15G>C (n.577-15G>C) c.739-15G>C (n.739-15G>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50081626G= | CA2428767409 | CLCN5 | c.727-15G= (n.727-15G=) c.517-15G= (n.517-15G=) c.1014-15G= c.577-15G= (n.577-15G=) c.739-15G= (n.739-15G=) | |
| X | g.50081628G>T | CA2693736642 | CLCN5 | c.727-13G>T (n.727-13G>T) c.517-13G>T (n.517-13G>T) c.1014-13G>T c.577-13G>T (n.577-13G>T) c.739-13G>T (n.739-13G>T) | gnomAD v4 |
| X | g.50081629T>C | CA2579610675 | CLCN5 | c.727-12T>C (n.727-12T>C) c.517-12T>C (n.517-12T>C) c.1014-12T>C c.577-12T>C (n.577-12T>C) c.739-12T>C (n.739-12T>C) | |
| X | g.50081631del | CA2579610674 | CLCN5 | c.727-10del (n.727-10del) c.517-10del (n.517-10del) c.1014-10del c.577-10del (n.577-10del) c.739-10del (n.739-10del) | |
| X | g.50081631T>C | CA2693736643 | CLCN5 | c.727-10T>C (n.727-10T>C) c.517-10T>C (n.517-10T>C) c.1014-10T>C c.577-10T>C (n.577-10T>C) c.739-10T>C (n.739-10T>C) | gnomAD v4 |
| X | g.50081632A>G | CA2579610676 | CLCN5 | c.727-9A>G (n.727-9A>G) c.517-9A>G (n.517-9A>G) c.1014-9A>G c.577-9A>G (n.577-9A>G) c.739-9A>G (n.739-9A>G) | |
| X | g.50081632_50081641del | CA2695233654 | CLCN5 | c.727-9_727del c.517-9_517del c.1014-9_1014del c.577-9_577del c.739-9_739del | |
| X | g.50081633A= | CA2428767410 | CLCN5 | c.727-8A= (n.727-8A=) c.517-8A= (n.517-8A=) c.1014-8A= c.577-8A= (n.577-8A=) c.739-8A= (n.739-8A=) | |
| X | g.50081633A>G | CA10413786 | CLCN5 | c.727-8A>G (n.727-8A>G) c.517-8A>G (n.517-8A>G) c.1014-8A>G c.577-8A>G (n.577-8A>G) c.739-8A>G (n.739-8A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50081634C>A | CA2693736644 | CLCN5 | c.727-7C>A (n.727-7C>A) c.517-7C>A (n.517-7C>A) c.1014-7C>A c.577-7C>A (n.577-7C>A) c.739-7C>A (n.739-7C>A) | gnomAD v4 |
| X | g.50081635C>A | CA2693736645 | CLCN5 | c.727-6C>A (n.727-6C>A) c.517-6C>A (n.517-6C>A) c.1014-6C>A c.577-6C>A (n.577-6C>A) c.739-6C>A (n.739-6C>A) | gnomAD v4 |
| X | g.50081636T>C | CA10413787 | CLCN5 | c.727-5T>C (n.727-5T>C) c.517-5T>C (n.517-5T>C) c.1014-5T>C c.577-5T>C (n.577-5T>C) c.739-5T>C (n.739-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50081636T= | CA2428767411 | CLCN5 | c.727-5T= (n.727-5T=) c.517-5T= (n.517-5T=) c.1014-5T= c.577-5T= (n.577-5T=) c.739-5T= (n.739-5T=) | |
| X | g.50081638C>A | CA2695233655 | CLCN5 | c.727-3C>A (n.727-3C>A) c.517-3C>A (n.517-3C>A) c.1014-3C>A c.577-3C>A (n.577-3C>A) c.739-3C>A (n.739-3C>A) | |
| X | g.50081639A>C | CA413183994 | CLCN5 | c.727-2A>C (n.727-2A>C) c.517-2A>C (n.517-2A>C) c.1014-2A>C c.577-2A>C (n.577-2A>C) c.739-2A>C (n.739-2A>C) | |
| X | g.50081639A>G | CA413183995 | CLCN5 | c.727-2A>G (n.727-2A>G) c.517-2A>G (n.517-2A>G) c.1014-2A>G c.577-2A>G (n.577-2A>G) c.739-2A>G (n.739-2A>G) | |
| X | g.50081639A>T | CA413183996 | CLCN5 | c.727-2A>T (n.727-2A>T) c.517-2A>T (n.517-2A>T) c.1014-2A>T c.577-2A>T (n.577-2A>T) c.739-2A>T (n.739-2A>T) | |
| X | g.50081640G>A | CA413183997 | CLCN5 | c.727-1G>A (n.727-1G>A) c.517-1G>A (n.517-1G>A) c.1014-1G>A c.577-1G>A (n.577-1G>A) c.739-1G>A (n.739-1G>A) | |
| X | g.50081640G>C | CA413183998 | CLCN5 | c.727-1G>C (n.727-1G>C) c.517-1G>C (n.517-1G>C) c.1014-1G>C c.577-1G>C (n.577-1G>C) c.739-1G>C (n.739-1G>C) | |
| X | g.50081640G>T | CA413183999 | CLCN5 | c.727-1G>T (n.727-1G>T) c.517-1G>T (n.517-1G>T) c.1014-1G>T c.577-1G>T (n.577-1G>T) c.739-1G>T (n.739-1G>T) | |
| X | g.50081641A= | CA2428767412 | CLCN5 | c.727A= (p.Ile243=) c.517A= (p.Ile173=) c.1014A= c.577A= (p.Ile193=) c.739A= (p.Ile247=) | |
| X | g.50081641A>C | CA413184000 | CLCN5 | c.727A>C (p.Ile243Leu) c.517A>C (p.Ile173Leu) c.1014A>C c.577A>C (p.Ile193Leu) c.739A>C (p.Ile247Leu) | |
| X | g.50081641A>G | CA413184001 | CLCN5 | c.727A>G (p.Ile243Val) c.517A>G (p.Ile173Val) c.1014A>G c.577A>G (p.Ile193Val) c.739A>G (p.Ile247Val) | |
| X | g.50081641A>T | CA413184002 | CLCN5 | c.727A>T (p.Ile243Leu) c.517A>T (p.Ile173Leu) c.1014A>T c.577A>T (p.Ile193Leu) c.739A>T (p.Ile247Leu) | gnomAD v3 gnomAD v4 |
| X | g.50081642del | CA2695233656 | CLCN5 | c.728del (p.Ile243LysfsTer5) c.518del (p.Ile173LysfsTer5) c.1015del c.578del (p.Ile193LysfsTer5) c.740del (p.Ile247LysfsTer5) | |
| X | g.50081642T>A | CA413184003 | CLCN5 | c.728T>A (p.Ile243Lys) c.518T>A (p.Ile173Lys) c.1015T>A c.578T>A (p.Ile193Lys) c.740T>A (p.Ile247Lys) | |
| X | g.50081642T>C | CA413184004 | CLCN5 | c.728T>C (p.Ile243Thr) c.518T>C (p.Ile173Thr) c.1015T>C c.578T>C (p.Ile193Thr) c.740T>C (p.Ile247Thr) | gnomAD v4 |
| X | g.50081642T>G | CA413184005 | CLCN5 | c.728T>G (p.Ile243Arg) c.518T>G (p.Ile173Arg) c.1015T>G c.578T>G (p.Ile193Arg) c.740T>G (p.Ile247Arg) | |
| X | g.50081642_50081659dup | CA916083955 | CLCN5 | c.728_745dup (p.Ser248_Gly249insValLysThrIleLeuSer) c.518_535dup (p.Ser178_Gly179insValLysThrIleLeuSer) c.1015_1032dup c.578_595dup (p.Ser198_Gly199insValLysThrIleLeuSer) c.740_757dup (p.Ser252_Gly253insValLysThrIleLeuSer) | ClinVar dbSNP |
| X | g.50081643A>C | CA516469917 | CLCN5 | c.729A>C (p.Ile243=) c.519A>C (p.Ile173=) c.1016A>C c.579A>C (p.Ile193=) c.741A>C (p.Ile247=) | |
| X | g.50081643A>G | CA413184006 | CLCN5 | c.729A>G (p.Ile243Met) c.519A>G (p.Ile173Met) c.1016A>G c.579A>G (p.Ile193Met) c.741A>G (p.Ile247Met) | |
| X | g.50081643A>T | CA516469916 | CLCN5 | c.729A>T (p.Ile243=) c.519A>T (p.Ile173=) c.1016A>T c.579A>T (p.Ile193=) c.741A>T (p.Ile247=) | |
| X | g.50081647dup | CA2695233657 | CLCN5 | c.733dup (p.Thr245AsnfsTer9) c.523dup (p.Thr175AsnfsTer9) c.1020dup c.583dup (p.Thr195AsnfsTer9) c.745dup (p.Thr249AsnfsTer9) | |
| X | g.50081647del | CA2579610677 | CLCN5 | c.733del (p.Thr245LeufsTer3) c.523del (p.Thr175LeufsTer3) c.1020del c.583del (p.Thr195LeufsTer3) c.745del (p.Thr249LeufsTer3) | |
| X | g.50081644A= | CA2428767413 | CLCN5 | c.730A= (p.Lys244=) c.520A= (p.Lys174=) c.1017A= c.580A= (p.Lys194=) c.742A= (p.Lys248=) | |
| X | g.50081644A>C | CA413184007 | CLCN5 | c.730A>C (p.Lys244Gln) c.520A>C (p.Lys174Gln) c.1017A>C c.580A>C (p.Lys194Gln) c.742A>C (p.Lys248Gln) | |
| X | g.50081644A>G | CA10413788 | CLCN5 | c.730A>G (p.Lys244Glu) c.520A>G (p.Lys174Glu) c.1017A>G c.580A>G (p.Lys194Glu) c.742A>G (p.Lys248Glu) | dbSNP ExAC |
| X | g.50081644A>T | CA413184008 | CLCN5 | c.730A>T (p.Lys244Ter) c.520A>T (p.Lys174Ter) c.1017A>T c.580A>T (p.Lys194Ter) c.742A>T (p.Lys248Ter) | |
| X | g.50081645A>C | CA413184009 | CLCN5 | c.731A>C (p.Lys244Thr) c.521A>C (p.Lys174Thr) c.1018A>C c.581A>C (p.Lys194Thr) c.743A>C (p.Lys248Thr) | |
| X | g.50081645A>G | CA413184010 | CLCN5 | c.731A>G (p.Lys244Arg) c.521A>G (p.Lys174Arg) c.1018A>G c.581A>G (p.Lys194Arg) c.743A>G (p.Lys248Arg) | |
| X | g.50081645A>T | CA413184011 | CLCN5 | c.731A>T (p.Lys244Ile) c.521A>T (p.Lys174Ile) c.1018A>T c.581A>T (p.Lys194Ile) c.743A>T (p.Lys248Ile) | |
| X | g.50081646A>C | CA413184012 | CLCN5 | c.732A>C (p.Lys244Asn) c.522A>C (p.Lys174Asn) c.1019A>C c.582A>C (p.Lys194Asn) c.744A>C (p.Lys248Asn) | |
| X | g.50081646A>G | CA516469922 | CLCN5 | c.732A>G (p.Lys244=) c.522A>G (p.Lys174=) c.1019A>G c.582A>G (p.Lys194=) c.744A>G (p.Lys248=) | |
| X | g.50081646A>T | CA413184013 | CLCN5 | c.732A>T (p.Lys244Asn) c.522A>T (p.Lys174Asn) c.1019A>T c.582A>T (p.Lys194Asn) c.744A>T (p.Lys248Asn) | |
| X | g.50081647A>C | CA413184014 | CLCN5 | c.733A>C (p.Thr245Pro) c.523A>C (p.Thr175Pro) c.1020A>C c.583A>C (p.Thr195Pro) c.745A>C (p.Thr249Pro) | |
| X | g.50081647A>G | CA413184015 | CLCN5 | c.733A>G (p.Thr245Ala) c.523A>G (p.Thr175Ala) c.1020A>G c.583A>G (p.Thr195Ala) c.745A>G (p.Thr249Ala) | |
| X | g.50081647A>T | CA413184016 | CLCN5 | c.733A>T (p.Thr245Ser) c.523A>T (p.Thr175Ser) c.1020A>T c.583A>T (p.Thr195Ser) c.745A>T (p.Thr249Ser) |