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_10149879del | CA645529537 | VHL | c.*227_*233del (n.*227_*233del) c.686_692del (n.686_692del) c.661_667del (p.Leu221LysfsTer16) c.550_556del (p.Leu184LysfsTer16) c.427_433del (p.Leu143LysfsTer16) n.686_692del c.*104_*110del (n.*104_*110del) | COSMIC |
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.10149878_10149880del | CA2695197743 | VHL | c.*232_*234del (n.*232_*234del) c.691_693del (n.691_693del) c.666_668del (p.Tyr222Ter) c.555_557del (p.Tyr185Ter) c.432_434del (p.Tyr144Ter) n.691_693del c.*109_*111del (n.*109_*111del) | |
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_10149881delinsCGAA | CA1345062645 | VHL | c.*232_*235delinsCGAA (n.*232_*235delinsCGAA) c.691_694delinsCGAA (n.691_694delinsCGAA) c.666_669delinsCGAA (p.Tyr222=) c.555_558delinsCGAA (p.Tyr185=) c.432_435delinsCGAA (p.Tyr144=) n.691_694delinsCGAA c.*109_*112delinsCGAA (n.*109_*112delinsCGAA) | |
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.10149879G>A | CA020480 | VHL | c.*233G>A (n.*233G>A) c.692G>A (n.692G>A) c.667G>A (p.Glu223Lys) c.556G>A (p.Glu186Lys) c.433G>A (p.Glu145Lys) n.692G>A c.*110G>A (n.*110G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10149879G>C | CA351756383 | VHL | c.*233G>C (n.*233G>C) c.692G>C (n.692G>C) c.667G>C (p.Glu223Gln) c.556G>C (p.Glu186Gln) c.433G>C (p.Glu145Gln) n.692G>C c.*110G>C (n.*110G>C) | ClinVar dbSNP gnomAD v4 |
3 | g.10149879G= | CA1345062653 | VHL | c.*233G= (n.*233G=) c.692G= (n.692G=) c.667G= (p.Glu223=) c.556G= (p.Glu186=) c.433G= (p.Glu145=) n.692G= c.*110G= (n.*110G=) | |
3 | g.10149879G>T | CA16604432 | VHL | c.*233G>T (n.*233G>T) c.692G>T (n.692G>T) c.667G>T (p.Glu223Ter) c.556G>T (p.Glu186Ter) c.433G>T (p.Glu145Ter) n.692G>T c.*110G>T (n.*110G>T) | ClinVar dbSNP 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.10149880A>C | CA351756385 | VHL | c.*234A>C (n.*234A>C) c.693A>C (n.693A>C) c.668A>C (p.Glu223Ala) c.557A>C (p.Glu186Ala) c.434A>C (p.Glu145Ala) n.693A>C c.*111A>C (n.*111A>C) | |
3 | g.10149880A>G | CA351756386 | VHL | c.*234A>G (n.*234A>G) c.693A>G (n.693A>G) c.668A>G (p.Glu223Gly) c.557A>G (p.Glu186Gly) c.434A>G (p.Glu145Gly) n.693A>G c.*111A>G (n.*111A>G) | |
3 | g.10149880A>T | CA351756387 | VHL | c.*234A>T (n.*234A>T) c.693A>T (n.693A>T) c.668A>T (p.Glu223Val) c.557A>T (p.Glu186Val) c.434A>T (p.Glu145Val) n.693A>T c.*111A>T (n.*111A>T) | |
3 | g.10149881del | CA432423646 | VHL | c.*235del (n.*235del) c.694del (n.694del) c.669del (p.Asp224IlefsTer15) c.558del (p.Asp187IlefsTer15) c.435del (p.Asp146IlefsTer15) n.694del c.*112del (n.*112del) | 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.10149881A= | CA1345062660 | VHL | c.*235A= (n.*235A=) c.694A= (n.694A=) c.669A= (p.Glu223=) c.558A= (p.Glu186=) c.435A= (p.Glu145=) n.694A= c.*112A= (n.*112A=) | |
3 | g.10149881A>C | CA020484 | VHL | c.*235A>C (n.*235A>C) c.694A>C (n.694A>C) c.669A>C (p.Glu223Asp) c.558A>C (p.Glu186Asp) c.435A>C (p.Glu145Asp) n.694A>C c.*112A>C (n.*112A>C) | ClinVar dbSNP gnomAD v4 |
3 | g.10149881A>G | CA432423649 | VHL | c.*235A>G (n.*235A>G) c.694A>G (n.694A>G) c.669A>G (p.Glu223=) c.558A>G (p.Glu186=) c.435A>G (p.Glu145=) n.694A>G c.*112A>G (n.*112A>G) | |
3 | g.10149881A>T | CA351756388 | VHL | c.*235A>T (n.*235A>T) c.694A>T (n.694A>T) c.669A>T (p.Glu223Asp) c.558A>T (p.Glu186Asp) c.435A>T (p.Glu145Asp) n.694A>T c.*112A>T (n.*112A>T) | dbSNP |
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.10149881_10149882insC | CA645529550 | VHL | c.*235_*236insC (n.*235_*236insC) c.694_695insC (n.694_695insC) c.669_670insC (p.Asp224ArgfsTer?) c.558_559insC (p.Asp187ArgfsTer?) c.435_436insC (p.Asp146ArgfsTer?) n.694_695insC c.*112_*113insC (n.*112_*113insC) | 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) |