Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
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.10149873_10149882del | CA645529539 | VHL | c.*227_*236del (n.*227_*236del) c.686_695del (n.686_695del) c.661_670del (p.Leu221IlefsTer15) c.550_559del (p.Leu184IlefsTer15) c.427_436del (p.Leu143IlefsTer15) n.686_695del c.*104_*113del (n.*104_*113del) | COSMIC |
3 | g.10149877_10149886del | CA645529541 | VHL | c.*231_*240del (n.*231_*240del) c.690_699del (n.690_699del) c.665_674del (p.Tyr222TrpfsTer14) c.554_563del (p.Tyr185TrpfsTer14) c.431_440del (p.Tyr144TrpfsTer14) n.690_699del c.*108_*117del (n.*108_*117del) | COSMIC |
3 | g.10149877_10149895del | CA645529542 | VHL | c.*231_*249del (n.*231_*249del) c.690_708del (n.690_708del) c.665_683del (p.Tyr222SerfsTer11) c.554_572del (p.Tyr185SerfsTer11) c.431_449del (p.Tyr144SerfsTer11) n.690_708del c.*108_*126del (n.*108_*126del) | COSMIC |
3 | g.10149878_10149882delinsAT | CA645529544 | VHL | c.*232_*236delinsAT (n.*232_*236delinsAT) c.691_695delinsAT (n.691_695delinsAT) c.666_670delinsAT (p.Tyr222Ter) c.555_559delinsAT (p.Tyr185Ter) c.432_436delinsAT (p.Tyr144Ter) n.691_695delinsAT c.*109_*113delinsAT (n.*109_*113delinsAT) | COSMIC |
3 | g.10149879_10149885del | CA645529545 | VHL | c.*233_*239del (n.*233_*239del) c.692_698del (n.692_698del) c.667_673del (p.Glu223TrpfsTer14) c.556_562del (p.Glu186TrpfsTer14) c.433_439del (p.Glu145TrpfsTer14) n.692_698del c.*110_*116del (n.*110_*116del) | COSMIC |
3 | g.10149881_10149883del | CA658795181 | VHL | c.*235_*237del (n.*235_*237del) c.694_696del (n.694_696del) c.669_671del (p.Glu223del) c.558_560del (p.Glu186del) c.435_437del (p.Glu145del) n.694_696del c.*112_*114del (n.*112_*114del) | ClinVar dbSNP |
3 | g.10149884_10149892del | CA645529546 | VHL | c.*238_*246del (n.*238_*246del) c.697_705del (n.697_705del) c.672_680del (p.Leu225_Asp227del) c.561_569del (p.Leu188_Asp190del) c.438_446del (p.Leu147_Asp149del) n.697_705del c.*115_*123del (n.*115_*123del) | COSMIC |
3 | g.10149880_10149884del | CA645529547 | VHL | c.*234_*238del (n.*234_*238del) c.693_697del (n.693_697del) c.668_672del (p.Glu223AlafsTer?) c.557_561del (p.Glu186AlafsTer?) c.434_438del (p.Glu145AlafsTer?) n.693_697del c.*111_*115del (n.*111_*115del) | COSMIC |
3 | g.10149882_10149883del | CA645529548 | VHL | c.*236_*237del (n.*236_*237del) c.695_696del (n.695_696del) c.670_671del (p.Asp224SerfsTer?) c.559_560del (p.Asp187SerfsTer?) c.436_437del (p.Asp146SerfsTer?) n.695_696del c.*113_*114del (n.*113_*114del) | COSMIC |
3 | g.10149882del | CA432423654 | VHL | c.*236del (n.*236del) c.695del (n.695del) c.670del (p.Asp224IlefsTer15) c.559del (p.Asp187IlefsTer15) c.436del (p.Asp146IlefsTer15) n.695del c.*113del (n.*113del) | COSMIC |
3 | g.10149882G>A | CA351756389 | VHL | c.*236G>A (n.*236G>A) c.695G>A (n.695G>A) c.670G>A (p.Asp224Asn) c.559G>A (p.Asp187Asn) c.436G>A (p.Asp146Asn) n.695G>A c.*113G>A (n.*113G>A) | dbSNP COSMIC |
3 | g.10149882G>C | CA351756390 | VHL | c.*236G>C (n.*236G>C) c.695G>C (n.695G>C) c.670G>C (p.Asp224His) c.559G>C (p.Asp187His) c.436G>C (p.Asp146His) n.695G>C c.*113G>C (n.*113G>C) | dbSNP |
3 | g.10149882G>T | CA351756391 | VHL | c.*236G>T (n.*236G>T) c.695G>T (n.695G>T) c.670G>T (p.Asp224Tyr) c.559G>T (p.Asp187Tyr) c.436G>T (p.Asp146Tyr) n.695G>T c.*113G>T (n.*113G>T) | |
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.10149882_10149883insC | CA432423656 | VHL | c.*236_*237insC (n.*236_*237insC) c.695_696insC (n.695_696insC) c.670_671insC (p.Asp224AlafsTer?) c.559_560insC (p.Asp187AlafsTer?) c.436_437insC (p.Asp146AlafsTer?) n.695_696insC c.*113_*114insC (n.*113_*114insC) | |
3 | g.10149883del | CA645529551 | VHL | c.*237del (n.*237del) c.696del (n.696del) c.671del (p.Asp224ValfsTer15) c.560del (p.Asp187ValfsTer15) c.437del (p.Asp146ValfsTer15) n.696del c.*114del (n.*114del) | COSMIC |
3 | g.10149883A>C | CA351756392 | VHL | c.*237A>C (n.*237A>C) c.696A>C (n.696A>C) c.671A>C (p.Asp224Ala) c.560A>C (p.Asp187Ala) c.437A>C (p.Asp146Ala) n.696A>C c.*114A>C (n.*114A>C) | |
3 | g.10149883A>G | CA351756393 | VHL | c.*237A>G (n.*237A>G) c.696A>G (n.696A>G) c.671A>G (p.Asp224Gly) c.560A>G (p.Asp187Gly) c.437A>G (p.Asp146Gly) n.696A>G c.*114A>G (n.*114A>G) | |
3 | g.10149883A>T | CA351756394 | VHL | c.*237A>T (n.*237A>T) c.696A>T (n.696A>T) c.671A>T (p.Asp224Val) c.560A>T (p.Asp187Val) c.437A>T (p.Asp146Val) n.696A>T c.*114A>T (n.*114A>T) | dbSNP COSMIC |
3 | g.10149884del | CA432423666 | VHL | c.*238del (n.*238del) c.697del (n.697del) c.672del (p.Leu225TrpfsTer14) c.561del (p.Leu188TrpfsTer14) c.438del (p.Leu147TrpfsTer14) n.697del c.*115del (n.*115del) | COSMIC |
3 | g.10149884T>A | CA351756395 | VHL | c.*238T>A (n.*238T>A) c.697T>A (n.697T>A) c.672T>A (p.Asp224Glu) c.561T>A (p.Asp187Glu) c.438T>A (p.Asp146Glu) n.697T>A c.*115T>A (n.*115T>A) | dbSNP |
3 | g.10149884T>C | CA041631 | VHL | c.*238T>C (n.*238T>C) c.697T>C (n.697T>C) c.672T>C (p.Asp224=) c.561T>C (p.Asp187=) c.438T>C (p.Asp146=) n.697T>C c.*115T>C (n.*115T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149884T>G | CA351756396 | VHL | c.*238T>G (n.*238T>G) c.697T>G (n.697T>G) c.672T>G (p.Asp224Glu) c.561T>G (p.Asp187Glu) c.438T>G (p.Asp146Glu) n.697T>G c.*115T>G (n.*115T>G) | dbSNP |
3 | g.10149884T= | CA1345062669 | VHL | c.*238T= (n.*238T=) c.697T= (n.697T=) c.672T= (p.Asp224=) c.561T= (p.Asp187=) c.438T= (p.Asp146=) n.697T= c.*115T= (n.*115T=) | |
3 | g.10149884_10149886del | CA645529554 | VHL | c.*238_*240del (n.*238_*240del) c.697_699del (n.697_699del) c.672_674del (p.Asp224_Leu225delinsGlu) c.561_563del (p.Asp187_Leu188delinsGlu) c.438_440del (p.Asp146_Leu147delinsGlu) n.697_699del c.*115_*117del (n.*115_*117del) | COSMIC |
3 | g.10149885_10149886del | CA645529553 | VHL | c.*239_*240del (n.*239_*240del) c.698_699del (n.698_699del) c.673_674del (p.Leu225GlyfsTer?) c.562_563del (p.Leu188GlyfsTer?) c.439_440del (p.Leu147GlyfsTer?) n.698_699del c.*116_*117del (n.*116_*117del) | COSMIC |
3 | g.10149884_10149887del | CA645529552 | VHL | c.*238_*241del (n.*238_*241del) c.697_700del (n.697_700del) c.672_675del (p.Asp224GlufsTer14) c.561_564del (p.Asp187GlufsTer14) c.438_441del (p.Asp146GlufsTer14) n.697_700del c.*115_*118del (n.*115_*118del) | COSMIC |
3 | g.10149884_10149890delinsG | CA645529555 | VHL | c.*238_*244delinsG (n.*238_*244delinsG) c.697_703delinsG (n.697_703delinsG) c.672_678delinsG (p.Asp224_Leu225del) c.561_567delinsG (p.Asp187_Leu188del) c.438_444delinsG (p.Asp146_Leu147del) n.697_703delinsG c.*115_*121delinsG (n.*115_*121delinsG) | COSMIC |
3 | g.10149885del | CA432423671 | VHL | c.*239del (n.*239del) c.698del (n.698del) c.673del (p.Leu225TrpfsTer14) c.562del (p.Leu188TrpfsTer14) c.439del (p.Leu147TrpfsTer14) n.698del c.*116del (n.*116del) | COSMIC |
3 | g.10149885C>A | CA351756397 | VHL | c.*239C>A (n.*239C>A) c.698C>A (n.698C>A) c.673C>A (p.Leu225Met) c.562C>A (p.Leu188Met) c.439C>A (p.Leu147Met) n.698C>A c.*116C>A (n.*116C>A) | dbSNP gnomAD v4 |
3 | g.10149885C= | CA1345062676 | VHL | c.*239C= (n.*239C=) c.698C= (n.698C=) c.673C= (p.Leu225=) c.562C= (p.Leu188=) c.439C= (p.Leu147=) n.698C= c.*116C= (n.*116C=) | |
3 | g.10149885C>G | CA020488 | VHL | c.*239C>G (n.*239C>G) c.698C>G (n.698C>G) c.673C>G (p.Leu225Val) c.562C>G (p.Leu188Val) c.439C>G (p.Leu147Val) n.698C>G c.*116C>G (n.*116C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10149885C>T | CA432423668 | VHL | c.*239C>T (n.*239C>T) c.698C>T (n.698C>T) c.673C>T (p.Leu225=) c.562C>T (p.Leu188=) c.439C>T (p.Leu147=) n.698C>T c.*116C>T (n.*116C>T) | ClinVar dbSNP |
3 | g.10149885_10149887del | CA2573320489 | VHL | c.*239_*241del (n.*239_*241del) c.698_700del (n.698_700del) c.673_675del (p.Leu225del) c.562_564del (p.Leu188del) c.439_441del (p.Leu147del) n.698_700del c.*116_*118del (n.*116_*118del) |