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.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.10149908_10149929dup | CA913190160 | VHL | c.*262_*283dup (n.*262_*283dup) c.721_742dup (n.721_742dup) c.696_717dup (p.Gln240GlufsTer?) c.585_606dup (p.Gln203GlufsTer?) c.462_483dup (p.Gln162GlufsTer?) n.721_742dup c.*139_*160dup (n.*139_*160dup) | ClinVar dbSNP |
| 3 | g.10149908_10149909del | CA645529570 | VHL | c.*262_*263del (n.*262_*263del) c.721_722del (n.721_722del) c.696_697del (p.Lys233ArgfsTer?) c.585_586del (p.Lys196ArgfsTer?) c.462_463del (p.Lys155ArgfsTer?) n.721_722del c.*139_*140del (n.*139_*140del) | ClinVar dbSNP COSMIC |
| 3 | g.10149910_10149913dup | CA357099 | VHL | c.*264_*267dup (n.*264_*267dup) c.723_726dup (n.723_726dup) c.698_701dup (p.Asp234GlufsTer?) c.587_590dup (p.Asp197GlufsTer?) c.464_467dup (p.Asp156GlufsTer?) n.723_726dup c.*141_*144dup (n.*141_*144dup) | ClinVar dbSNP |
| 3 | g.10149910_10149919del | CA645529571 | VHL | c.*264_*273del (n.*264_*273del) c.723_732del (n.723_732del) c.698_707del (p.Lys233SerfsTer3) c.587_596del (p.Lys196SerfsTer3) c.464_473del (p.Lys155SerfsTer3) n.723_732del c.*141_*150del (n.*141_*150del) | COSMIC |
| 3 | g.10149909A= | CA1345062847 | VHL | c.*263A= (n.*263A=) c.722A= (n.722A=) c.697A= (p.Lys233=) c.586A= (p.Lys196=) c.463A= (p.Lys155=) n.722A= c.*140A= (n.*140A=) | |
| 3 | g.10149909A>C | CA351756503 | VHL | c.*263A>C (n.*263A>C) c.722A>C (n.722A>C) c.697A>C (p.Lys233Gln) c.586A>C (p.Lys196Gln) c.463A>C (p.Lys155Gln) n.722A>C c.*140A>C (n.*140A>C) | |
| 3 | g.10149909A>G | CA16611099 | VHL | c.*263A>G (n.*263A>G) c.722A>G (n.722A>G) c.697A>G (p.Lys233Glu) c.586A>G (p.Lys196Glu) c.463A>G (p.Lys155Glu) n.722A>G c.*140A>G (n.*140A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149909A>T | CA020507 | VHL | c.*263A>T (n.*263A>T) c.722A>T (n.722A>T) c.697A>T (p.Lys233Ter) c.586A>T (p.Lys196Ter) c.463A>T (p.Lys155Ter) n.722A>T c.*140A>T (n.*140A>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149911dup | CA279940 | VHL | c.*265dup (n.*265dup) c.724dup (n.724dup) c.699dup (p.Asp234ArgfsTer?) c.588dup (p.Asp197ArgfsTer?) c.465dup (p.Asp156ArgfsTer?) n.724dup c.*142dup (n.*142dup) | ClinVar dbSNP |
| 3 | g.10149911del | CA432423790 | VHL | c.*265del (n.*265del) c.724del (n.724del) c.699del (p.Asp234ThrfsTer5) c.588del (p.Asp197ThrfsTer5) c.465del (p.Asp156ThrfsTer5) n.724del c.*142del (n.*142del) | ClinVar COSMIC |
| 3 | g.10149910_10149911del | CA645529572 | VHL | c.*264_*265del (n.*264_*265del) c.723_724del (n.723_724del) c.698_699del (p.Lys233ArgfsTer?) c.587_588del (p.Lys196ArgfsTer?) c.464_465del (p.Lys155ArgfsTer?) n.723_724del c.*141_*142del (n.*141_*142del) | COSMIC |
| 3 | g.10149910A>C | CA351756510 | VHL | c.*264A>C (n.*264A>C) c.723A>C (n.723A>C) c.698A>C (p.Lys233Thr) c.587A>C (p.Lys196Thr) c.464A>C (p.Lys155Thr) n.723A>C c.*141A>C (n.*141A>C) | |
| 3 | g.10149910A>G | CA351756511 | VHL | c.*264A>G (n.*264A>G) c.723A>G (n.723A>G) c.698A>G (p.Lys233Arg) c.587A>G (p.Lys196Arg) c.464A>G (p.Lys155Arg) n.723A>G c.*141A>G (n.*141A>G) | |
| 3 | g.10149910A>T | CA351756514 | VHL | c.*264A>T (n.*264A>T) c.723A>T (n.723A>T) c.698A>T (p.Lys233Ile) c.587A>T (p.Lys196Ile) c.464A>T (p.Lys155Ile) n.723A>T c.*141A>T (n.*141A>T) | |
| 3 | g.10149910_10149916del | CA645529573 | VHL | c.*264_*270del (n.*264_*270del) c.723_729del (n.723_729del) c.698_704del (p.Lys233ArgfsTer4) c.587_593del (p.Lys196ArgfsTer4) c.464_470del (p.Lys155ArgfsTer4) n.723_729del c.*141_*147del (n.*141_*147del) | COSMIC |
| 3 | g.10149910_10149917del | CA645529574 | VHL | c.*264_*271del (n.*264_*271del) c.723_730del (n.723_730del) c.698_705del (p.Lys233ArgfsTer?) c.587_594del (p.Lys196ArgfsTer?) c.464_471del (p.Lys155ArgfsTer?) n.723_730del c.*141_*148del (n.*141_*148del) | COSMIC |
| 3 | g.10149911A= | CA1345062856 | VHL | c.*265A= (n.*265A=) c.724A= (n.724A=) c.699A= (p.Lys233=) c.588A= (p.Lys196=) c.465A= (p.Lys155=) n.724A= c.*142A= (n.*142A=) | |
| 3 | g.10149911A>C | CA351756518 | VHL | c.*265A>C (n.*265A>C) c.724A>C (n.724A>C) c.699A>C (p.Lys233Asn) c.588A>C (p.Lys196Asn) c.465A>C (p.Lys155Asn) n.724A>C c.*142A>C (n.*142A>C) | |
| 3 | g.10149911A>G | CA70052605 | VHL | c.*265A>G (n.*265A>G) c.724A>G (n.724A>G) c.699A>G (p.Lys233=) c.588A>G (p.Lys196=) c.465A>G (p.Lys155=) n.724A>G c.*142A>G (n.*142A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149911A>T | CA351756520 | VHL | c.*265A>T (n.*265A>T) c.724A>T (n.724A>T) c.699A>T (p.Lys233Asn) c.588A>T (p.Lys196Asn) c.465A>T (p.Lys155Asn) n.724A>T c.*142A>T (n.*142A>T) | |
| 3 | g.10149912_10149913del | CA645529575 | VHL | c.*266_*267del (n.*266_*267del) c.725_726del (n.725_726del) c.700_701del (p.Asp234ProfsTer?) c.589_590del (p.Asp197ProfsTer?) c.466_467del (p.Asp156ProfsTer?) n.725_726del c.*143_*144del (n.*143_*144del) | COSMIC |
| 3 | g.10149912del | CA913189233 | VHL | c.*266del (n.*266del) c.725del (n.725del) c.700del (p.Asp234ThrfsTer5) c.589del (p.Asp197ThrfsTer5) c.466del (p.Asp156ThrfsTer5) n.725del c.*143del (n.*143del) | |
| 3 | g.10149912G>A | CA351756524 | VHL | c.*266G>A (n.*266G>A) c.725G>A (n.725G>A) c.700G>A (p.Asp234Asn) c.589G>A (p.Asp197Asn) c.466G>A (p.Asp156Asn) n.725G>A c.*143G>A (n.*143G>A) | ClinVar dbSNP |
| 3 | g.10149912G>C | CA16617793 | VHL | c.*266G>C (n.*266G>C) c.725G>C (n.725G>C) c.700G>C (p.Asp234His) c.589G>C (p.Asp197His) c.466G>C (p.Asp156His) n.725G>C c.*143G>C (n.*143G>C) | ClinVar dbSNP |
| 3 | g.10149912G= | CA1345062863 | VHL | c.*266G= (n.*266G=) c.725G= (n.725G=) c.700G= (p.Asp234=) c.589G= (p.Asp197=) c.466G= (p.Asp156=) n.725G= c.*143G= (n.*143G=) | |
| 3 | g.10149912G>T | CA351756526 | VHL | c.*266G>T (n.*266G>T) c.725G>T (n.725G>T) c.700G>T (p.Asp234Tyr) c.589G>T (p.Asp197Tyr) c.466G>T (p.Asp156Tyr) n.725G>T c.*143G>T (n.*143G>T) | |
| 3 | g.10149913del | CA432423804 | VHL | c.*267del (n.*267del) c.726del (n.726del) c.701del (p.Asp234AlafsTer5) c.590del (p.Asp197AlafsTer5) c.467del (p.Asp156AlafsTer5) n.726del c.*144del (n.*144del) | COSMIC |
| 3 | g.10149913A= | CA1345062871 | VHL | c.*267A= (n.*267A=) c.726A= (n.726A=) c.701A= (p.Asp234=) c.590A= (p.Asp197=) c.467A= (p.Asp156=) n.726A= c.*144A= (n.*144A=) | |
| 3 | g.10149913A>C | CA041749 | VHL | c.*267A>C (n.*267A>C) c.726A>C (n.726A>C) c.701A>C (p.Asp234Ala) c.590A>C (p.Asp197Ala) c.467A>C (p.Asp156Ala) n.726A>C c.*144A>C (n.*144A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149913A>G | CA351756530 | VHL | c.*267A>G (n.*267A>G) c.726A>G (n.726A>G) c.701A>G (p.Asp234Gly) c.590A>G (p.Asp197Gly) c.467A>G (p.Asp156Gly) n.726A>G c.*144A>G (n.*144A>G) | dbSNP |
| 3 | g.10149913A>T | CA351756533 | VHL | c.*267A>T (n.*267A>T) c.726A>T (n.726A>T) c.701A>T (p.Asp234Val) c.590A>T (p.Asp197Val) c.467A>T (p.Asp156Val) n.726A>T c.*144A>T (n.*144A>T) | dbSNP |
| 3 | g.10149915_10149930del | CA645529576 | VHL | c.*269_*284del (n.*269_*284del) c.728_743del (n.728_743del) c.703_718del (p.Leu235ArgfsTer16) c.592_607del (p.Leu198ArgfsTer16) c.469_484del (p.Leu157ArgfsTer16) n.728_743del c.*146_*161del (n.*146_*161del) | ClinVar COSMIC |
| 3 | g.10149914C>A | CA351756536 | VHL | c.*268C>A (n.*268C>A) c.727C>A (n.727C>A) c.702C>A (p.Asp234Glu) c.591C>A (p.Asp197Glu) c.468C>A (p.Asp156Glu) n.727C>A c.*145C>A (n.*145C>A) | dbSNP |