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 |
|---|---|---|---|---|---|
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10145108_10153342del | CA2499216377 | VHL | c.341-1406_*3377del c.*17+2087_*3573del c.340+2921_*3377del | ClinVar |
| 3 | g.10145132_10153366del | CA2499216378 | VHL | c.341-1382_*3401del c.*17+2111_*3597del c.340+2945_*3401del | ClinVar |
| 3 | g.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | ClinVar |
| 3 | g.10146465_10152780del | CA2499216382 | VHL | c.341-49_*2815del c.*18-3322_*3011del c.341-3322_*2815del | ClinVar |
| 3 | g.10146480_10149909del | CA2581463488 | VHL | c.*18-34_*263del c.600-3307_722del c.341-34_697del c.341-34_586del c.341-3307_463del n.477-34_722del c.*18-3307_*140del | |
| 3 | g.10146514_10149967del | CA1139532108 | VHL | c.*18_*321del c.600-3273_780del c.341_*2del c.341-3273_*2del n.477_780del c.*18-3273_*198del | |
| 3 | g.10147075_10150956del | CA2499216384 | VHL | c.*140+439_*1310del c.600-2712_1769del c.463+439_*991del c.341-2712_*991del c.*18-2712_*1187del | ClinVar |
| 3 | g.10147644_10152768del | CA2499216385 | VHL | c.463+1008_*2803del c.*18-2143_*2999del c.341-2143_*2803del | ClinVar |
| 3 | g.10148440_10158273del | CA2499216386 | ClinVar | ||
| 3 | g.10148566_10158401del | CA2499216387 | ClinVar | ||
| 3 | g.10148561_10152736del | CA2499216388 | VHL | c.464-143_*2771del c.464-1226_*2771del c.*18-1226_*2967del c.341-1226_*2771del | ClinVar |
| 3 | g.10148615_10158450del | CA2499216389 | ClinVar | ||
| 3 | g.10149787_10149965del | CA2580612129 | VHL | c.*141_*319del (n.*141_*319del) c.600_778del (n.600_778del) c.575_753del (p.Val192GlufsTer?) c.464_642del (p.Val155GlufsTer?) c.341_519del (p.Val114GlufsTer?) n.600_778del c.*18_*196del (n.*18_*196del) | |
| 3 | g.10149883_10149903del | CA645529549 | VHL | c.*237_*257del (n.*237_*257del) c.696_716del (n.696_716del) c.671_691del (p.Asp224_Asn230del) c.560_580del (p.Asp187_Asn193del) c.437_457del (p.Asp146_Asn152del) n.696_716del c.*114_*134del (n.*114_*134del) | COSMIC |
| 3 | g.10149887_10149906dup | CA2586965684 | VHL | c.*241_*260dup (n.*241_*260dup) c.700_719dup (n.700_719dup) c.675_694dup (p.Gln232ArgfsTer14) c.564_583dup (p.Gln195ArgfsTer14) c.441_460dup (p.Gln154ArgfsTer14) n.700_719dup c.*118_*137dup (n.*118_*137dup) | |
| 3 | g.10149888_10149908dup | CA2586963895 | VHL | c.*242_*262dup (n.*242_*262dup) c.701_721dup (n.701_721dup) c.676_696dup (p.Gln232_Lys233insGluAspHisProAsnValGln) c.565_585dup (p.Gln195_Lys196insGluAspHisProAsnValGln) c.442_462dup (p.Gln154_Lys155insGluAspHisProAsnValGln) n.701_721dup c.*119_*139dup (n.*119_*139dup) | |
| 3 | g.10149899_10149915del | CA645529567 | VHL | c.*253_*269del (n.*253_*269del) c.712_728del (n.712_728del) c.687_703del (p.Asn230GlyfsTer?) c.576_592del (p.Asn193GlyfsTer?) c.453_469del (p.Asn152GlyfsTer?) n.712_728del c.*130_*146del (n.*130_*146del) | COSMIC |
| 3 | g.10149897_10149918del | CA645529566 | VHL | c.*251_*272del (n.*251_*272del) c.710_731del (n.710_731del) c.685_706del (p.Pro229SerfsTer3) c.574_595del (p.Pro192SerfsTer3) c.451_472del (p.Pro151SerfsTer3) n.710_731del c.*128_*149del (n.*128_*149del) | COSMIC |
| 3 | g.10149901dup | CA645529568 | VHL | c.*255dup (n.*255dup) c.714dup (n.714dup) c.689dup (p.Asn230LysfsTer?) c.578dup (p.Asn193LysfsTer?) c.455dup (p.Asn152LysfsTer?) n.714dup c.*132dup (n.*132dup) | COSMIC |
| 3 | g.10149901del | CA432423740 | VHL | c.*255del (n.*255del) c.714del (n.714del) c.689del (p.Asn230MetfsTer9) c.578del (p.Asn193MetfsTer9) c.455del (p.Asn152MetfsTer9) n.714del c.*132del (n.*132del) | COSMIC |
| 3 | g.10149901A= | CA1345062775 | VHL | c.*255A= (n.*255A=) c.714A= (n.714A=) c.689A= (p.Asn230=) c.578A= (p.Asn193=) c.455A= (p.Asn152=) n.714A= c.*132A= (n.*132A=) | |
| 3 | g.10149901A>C | CA351756453 | VHL | c.*255A>C (n.*255A>C) c.714A>C (n.714A>C) c.689A>C (p.Asn230Thr) c.578A>C (p.Asn193Thr) c.455A>C (p.Asn152Thr) n.714A>C c.*132A>C (n.*132A>C) | |
| 3 | g.10149901A>G | CA10584231 | VHL | c.*255A>G (n.*255A>G) c.714A>G (n.714A>G) c.689A>G (p.Asn230Ser) c.578A>G (p.Asn193Ser) c.455A>G (p.Asn152Ser) n.714A>G c.*132A>G (n.*132A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149901A>T | CA351756456 | VHL | c.*255A>T (n.*255A>T) c.714A>T (n.714A>T) c.689A>T (p.Asn230Ile) c.578A>T (p.Asn193Ile) c.455A>T (p.Asn152Ile) n.714A>T c.*132A>T (n.*132A>T) | dbSNP gnomAD v4 |
| 3 | g.10149901_10149903delinsATG | CA1345062773 | VHL | c.*255_*257delinsATG (n.*255_*257delinsATG) c.714_716delinsATG (n.714_716delinsATG) c.689_691delinsATG (p.Asn230=) c.578_580delinsATG (p.Asn193=) c.455_457delinsATG (p.Asn152=) n.714_716delinsATG c.*132_*134delinsATG (n.*132_*134delinsATG) | |
| 3 | g.10149902T>A | CA16611097 | VHL | c.*256T>A (n.*256T>A) c.715T>A (n.715T>A) c.690T>A (p.Asn230Lys) c.579T>A (p.Asn193Lys) c.456T>A (p.Asn152Lys) n.715T>A c.*133T>A (n.*133T>A) | ClinVar dbSNP |
| 3 | g.10149902T>C | CA16611070 | VHL | c.*256T>C (n.*256T>C) c.715T>C (n.715T>C) c.690T>C (p.Asn230=) c.579T>C (p.Asn193=) c.456T>C (p.Asn152=) n.715T>C c.*133T>C (n.*133T>C) | ClinVar dbSNP |
| 3 | g.10149902T>G | CA351756460 | VHL | c.*256T>G (n.*256T>G) c.715T>G (n.715T>G) c.690T>G (p.Asn230Lys) c.579T>G (p.Asn193Lys) c.456T>G (p.Asn152Lys) n.715T>G c.*133T>G (n.*133T>G) | |
| 3 | g.10149902T= | CA1345062787 | VHL | c.*256T= (n.*256T=) c.715T= (n.715T=) c.690T= (p.Asn230=) c.579T= (p.Asn193=) c.456T= (p.Asn152=) n.715T= c.*133T= (n.*133T=) | |
| 3 | g.10149904_10149905del | CA70052556 | VHL | c.*258_*259del (n.*258_*259del) c.717_718del (n.717_718del) c.692_693del (p.Val231AlafsTer?) c.581_582del (p.Val194AlafsTer?) c.458_459del (p.Val153AlafsTer?) n.717_718del c.*135_*136del (n.*135_*136del) | dbSNP COSMIC COSMIC |
| 3 | g.10149902_10149903insA | CA432423760 | VHL | c.*256_*257insA (n.*256_*257insA) c.715_716insA (n.715_716insA) c.690_691insA (p.Val231SerfsTer?) c.579_580insA (p.Val194SerfsTer?) c.456_457insA (p.Val153SerfsTer?) n.715_716insA c.*133_*134insA (n.*133_*134insA) | |
| 3 | g.10149903G>A | CA351756469 | VHL | c.*257G>A (n.*257G>A) c.716G>A (n.716G>A) c.691G>A (p.Val231Met) c.580G>A (p.Val194Met) c.457G>A (p.Val153Met) n.716G>A c.*134G>A (n.*134G>A) | ClinVar dbSNP |
| 3 | g.10149903G>C | CA351756466 | VHL | c.*257G>C (n.*257G>C) c.716G>C (n.716G>C) c.691G>C (p.Val231Leu) c.580G>C (p.Val194Leu) c.457G>C (p.Val153Leu) n.716G>C c.*134G>C (n.*134G>C) | dbSNP |
| 3 | g.10149903G= | CA1345062796 | VHL | c.*257G= (n.*257G=) c.716G= (n.716G=) c.691G= (p.Val231=) c.580G= (p.Val194=) c.457G= (p.Val153=) n.716G= c.*134G= (n.*134G=) | |
| 3 | g.10149903G>T | CA351756464 | VHL | c.*257G>T (n.*257G>T) c.716G>T (n.716G>T) c.691G>T (p.Val231Leu) c.580G>T (p.Val194Leu) c.457G>T (p.Val153Leu) n.716G>T c.*134G>T (n.*134G>T) | |
| 3 | g.10149904T>A | CA351756473 | VHL | c.*258T>A (n.*258T>A) c.717T>A (n.717T>A) c.692T>A (p.Val231Glu) c.581T>A (p.Val194Glu) c.458T>A (p.Val153Glu) n.717T>A c.*135T>A (n.*135T>A) | dbSNP |
| 3 | g.10149904T>C | CA351756478 | VHL | c.*258T>C (n.*258T>C) c.717T>C (n.717T>C) c.692T>C (p.Val231Ala) c.581T>C (p.Val194Ala) c.458T>C (p.Val153Ala) n.717T>C c.*135T>C (n.*135T>C) | |
| 3 | g.10149904T>G | CA351756475 | VHL | c.*258T>G (n.*258T>G) c.717T>G (n.717T>G) c.692T>G (p.Val231Gly) c.581T>G (p.Val194Gly) c.458T>G (p.Val153Gly) n.717T>G c.*135T>G (n.*135T>G) | ClinVar dbSNP |
| 3 | g.10149904T= | CA1345062803 | VHL | c.*258T= (n.*258T=) c.717T= (n.717T=) c.692T= (p.Val231=) c.581T= (p.Val194=) c.458T= (p.Val153=) n.717T= c.*135T= (n.*135T=) | |
| 3 | g.10149905G>A | CA432423767 | VHL | c.*259G>A (n.*259G>A) c.718G>A (n.718G>A) c.693G>A (p.Val231=) c.582G>A (p.Val194=) c.459G>A (p.Val153=) n.718G>A c.*136G>A (n.*136G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149905G>C | CA432423771 | VHL | c.*259G>C (n.*259G>C) c.718G>C (n.718G>C) c.693G>C (p.Val231=) c.582G>C (p.Val194=) c.459G>C (p.Val153=) n.718G>C c.*136G>C (n.*136G>C) | dbSNP |
| 3 | g.10149905G= | CA1345062807 | VHL | c.*259G= (n.*259G=) c.718G= (n.718G=) c.693G= (p.Val231=) c.582G= (p.Val194=) c.459G= (p.Val153=) n.718G= c.*136G= (n.*136G=) | |
| 3 | g.10149905G>T | CA432423769 | VHL | c.*259G>T (n.*259G>T) c.718G>T (n.718G>T) c.693G>T (p.Val231=) c.582G>T (p.Val194=) c.459G>T (p.Val153=) n.718G>T c.*136G>T (n.*136G>T) | ClinVar COSMIC |
| 3 | g.10149905_10149906insT | CA645529569 | VHL | c.*259_*260insT (n.*259_*260insT) c.718_719insT (n.718_719insT) c.693_694insT (p.Gln232SerfsTer?) c.582_583insT (p.Gln195SerfsTer?) c.459_460insT (p.Gln154SerfsTer?) n.718_719insT c.*136_*137insT (n.*136_*137insT) | COSMIC |
| 3 | g.10149906C>A | CA351756481 | VHL | c.*260C>A (n.*260C>A) c.719C>A (n.719C>A) c.694C>A (p.Gln232Lys) c.583C>A (p.Gln195Lys) c.460C>A (p.Gln154Lys) n.719C>A c.*137C>A (n.*137C>A) | dbSNP |
| 3 | g.10149906C= | CA1345062814 | VHL | c.*260C= (n.*260C=) c.719C= (n.719C=) c.694C= (p.Gln232=) c.583C= (p.Gln195=) c.460C= (p.Gln154=) n.719C= c.*137C= (n.*137C=) | |
| 3 | g.10149906C>G | CA351756483 | VHL | c.*260C>G (n.*260C>G) c.719C>G (n.719C>G) c.694C>G (p.Gln232Glu) c.583C>G (p.Gln195Glu) c.460C>G (p.Gln154Glu) n.719C>G c.*137C>G (n.*137C>G) | dbSNP |
| 3 | g.10149906C>T | CA70052558 | VHL | c.*260C>T (n.*260C>T) c.719C>T (n.719C>T) c.694C>T (p.Gln232Ter) c.583C>T (p.Gln195Ter) c.460C>T (p.Gln154Ter) n.719C>T c.*137C>T (n.*137C>T) | ClinVar dbSNP COSMIC |