| 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.10149837_10149850del | CA645525084 | VHL | c.*191_*204del (n.*191_*204del) c.650_663del (n.650_663del) c.625_638del (p.Pro209GlufsTer?) c.514_527del (p.Pro172GlufsTer?) c.391_404del (p.Pro131GlufsTer?) n.650_663del c.*68_*81del (n.*68_*81del) | COSMIC |
| 3 | g.10149839_10149848del | CA645525087 | VHL | c.*193_*202del (n.*193_*202del) c.652_661del (n.652_661del) c.627_636del (p.Glu210GlyfsTer26) c.516_525del (p.Glu173GlyfsTer26) c.393_402del (p.Glu132GlyfsTer26) n.652_661del c.*70_*79del (n.*70_*79del) | COSMIC |
| 3 | g.10149840_10149845del | CA645525088 | VHL | c.*194_*199del (n.*194_*199del) c.653_658del (n.653_658del) c.628_633del (p.Glu210_Asn211del) c.517_522del (p.Glu173_Asn174del) c.394_399del (p.Glu132_Asn133del) n.653_658del c.*71_*76del (n.*71_*76del) | COSMIC |
| 3 | g.10149842_10149843del | CA645525091 | VHL | c.*196_*197del (n.*196_*197del) c.655_656del (n.655_656del) c.630_631del (p.Asn211LeufsTer?) c.519_520del (p.Asn174LeufsTer?) c.396_397del (p.Asn133LeufsTer?) n.655_656del c.*73_*74del (n.*73_*74del) | COSMIC |
| 3 | g.10149844_10149854del | CA2739292378 | VHL | c.*198_*208del (n.*198_*208del) c.657_667del (n.657_667del) c.632_642del (p.Asn211ThrfsTer?) c.521_531del (p.Asn174ThrfsTer?) c.398_408del (p.Asn133ThrfsTer?) n.657_667del c.*75_*85del (n.*75_*85del) | |
| 3 | g.10149843A= | CA1345062441 | VHL | c.*197A= (n.*197A=) c.656A= (n.656A=) c.631A= (p.Asn211=) c.520A= (p.Asn174=) c.397A= (p.Asn133=) n.656A= c.*74A= (n.*74A=) | |
| 3 | g.10149843A>C | CA351756219 | VHL | c.*197A>C (n.*197A>C) c.656A>C (n.656A>C) c.631A>C (p.Asn211His) c.520A>C (p.Asn174His) c.397A>C (p.Asn133His) n.656A>C c.*74A>C (n.*74A>C) | |
| 3 | g.10149843A>G | CA351756220 | VHL | c.*197A>G (n.*197A>G) c.656A>G (n.656A>G) c.631A>G (p.Asn211Asp) c.520A>G (p.Asn174Asp) c.397A>G (p.Asn133Asp) n.656A>G c.*74A>G (n.*74A>G) | COSMIC |
| 3 | g.10149843A>T | CA16611095 | VHL | c.*197A>T (n.*197A>T) c.656A>T (n.656A>T) c.631A>T (p.Asn211Tyr) c.520A>T (p.Asn174Tyr) c.397A>T (p.Asn133Tyr) n.656A>T c.*74A>T (n.*74A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149844dup | CA645525093 | VHL | c.*198dup (n.*198dup) c.657dup (n.657dup) c.632dup (p.Asn211LysfsTer?) c.521dup (p.Asn174LysfsTer?) c.398dup (p.Asn133LysfsTer?) n.657dup c.*75dup (n.*75dup) | COSMIC |
| 3 | g.10149843_10149844dup | CA2573051315 | VHL | c.*197_*198dup (n.*197_*198dup) c.656_657dup (n.656_657dup) c.631_632dup (p.Asn211LysfsTer29) c.520_521dup (p.Asn174LysfsTer29) c.397_398dup (p.Asn133LysfsTer29) n.656_657dup c.*74_*75dup (n.*74_*75dup) | |
| 3 | g.10149844del | CA432423410 | VHL | c.*198del (n.*198del) c.657del (n.657del) c.632del (p.Asn211IlefsTer28) c.521del (p.Asn174IlefsTer28) c.398del (p.Asn133IlefsTer28) n.657del c.*75del (n.*75del) | COSMIC |
| 3 | g.10149844A= | CA1345062447 | VHL | c.*198A= (n.*198A=) c.657A= (n.657A=) c.632A= (p.Asn211=) c.521A= (p.Asn174=) c.398A= (p.Asn133=) n.657A= c.*75A= (n.*75A=) | |
| 3 | g.10149844A>C | CA351756223 | VHL | c.*198A>C (n.*198A>C) c.657A>C (n.657A>C) c.632A>C (p.Asn211Thr) c.521A>C (p.Asn174Thr) c.398A>C (p.Asn133Thr) n.657A>C c.*75A>C (n.*75A>C) | |
| 3 | g.10149844A>G | CA351756221 | VHL | c.*198A>G (n.*198A>G) c.657A>G (n.657A>G) c.632A>G (p.Asn211Ser) c.521A>G (p.Asn174Ser) c.398A>G (p.Asn133Ser) n.657A>G c.*75A>G (n.*75A>G) | ClinVar dbSNP |
| 3 | g.10149844A>T | CA351756222 | VHL | c.*198A>T (n.*198A>T) c.657A>T (n.657A>T) c.632A>T (p.Asn211Ile) c.521A>T (p.Asn174Ile) c.398A>T (p.Asn133Ile) n.657A>T c.*75A>T (n.*75A>T) | dbSNP |
| 3 | g.10149844_10149845dup | CA645525094 | VHL | c.*198_*199dup (n.*198_*199dup) c.657_658dup (n.657_658dup) c.632_633dup (p.Tyr212IlefsTer28) c.521_522dup (p.Tyr175IlefsTer28) c.398_399dup (p.Tyr134IlefsTer28) n.657_658dup c.*75_*76dup (n.*75_*76dup) | COSMIC |
| 3 | g.10149845T>A | CA351756224 | VHL | c.*199T>A (n.*199T>A) c.658T>A (n.658T>A) c.633T>A (p.Asn211Lys) c.522T>A (p.Asn174Lys) c.399T>A (p.Asn133Lys) n.658T>A c.*76T>A (n.*76T>A) | dbSNP |
| 3 | g.10149845T>C | CA16604772 | VHL | c.*199T>C (n.*199T>C) c.658T>C (n.658T>C) c.633T>C (p.Asn211=) c.522T>C (p.Asn174=) c.399T>C (p.Asn133=) n.658T>C c.*76T>C (n.*76T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149845T>G | CA351756225 | VHL | c.*199T>G (n.*199T>G) c.658T>G (n.658T>G) c.633T>G (p.Asn211Lys) c.522T>G (p.Asn174Lys) c.399T>G (p.Asn133Lys) n.658T>G c.*76T>G (n.*76T>G) | dbSNP gnomAD v4 |
| 3 | g.10149845T= | CA1345062452 | VHL | c.*199T= (n.*199T=) c.658T= (n.658T=) c.633T= (p.Asn211=) c.522T= (p.Asn174=) c.399T= (p.Asn133=) n.658T= c.*76T= (n.*76T=) | |
| 3 | g.10149846dup | CA432423422 | VHL | c.*200dup (n.*200dup) c.659dup (n.659dup) c.634dup (p.Tyr212LeufsTer?) c.523dup (p.Tyr175LeufsTer?) c.400dup (p.Tyr134LeufsTer?) n.659dup c.*77dup (n.*77dup) | COSMIC COSMIC |
| 3 | g.10149845_10149846dup | CA645525095 | VHL | c.*199_*200dup (n.*199_*200dup) c.658_659dup (n.658_659dup) c.633_634dup (p.Tyr212PhefsTer28) c.522_523dup (p.Tyr175PhefsTer28) c.399_400dup (p.Tyr134PhefsTer28) n.658_659dup c.*76_*77dup (n.*76_*77dup) | COSMIC |
| 3 | g.10149846del | CA432423423 | VHL | c.*200del (n.*200del) c.659del (n.659del) c.634del (p.Tyr212ThrfsTer27) c.523del (p.Tyr175ThrfsTer27) c.400del (p.Tyr134ThrfsTer27) n.659del c.*77del (n.*77del) | COSMIC |
| 3 | g.10149845_10149846insA | CA432423426 | VHL | c.*199_*200insA (n.*199_*200insA) c.658_659insA (n.658_659insA) c.633_634insA (p.Tyr212IlefsTer?) c.522_523insA (p.Tyr175IlefsTer?) c.399_400insA (p.Tyr134IlefsTer?) n.658_659insA c.*76_*77insA (n.*76_*77insA) | |
| 3 | g.10149846T>A | CA351756226 | VHL | c.*200T>A (n.*200T>A) c.659T>A (n.659T>A) c.634T>A (p.Tyr212Asn) c.523T>A (p.Tyr175Asn) c.400T>A (p.Tyr134Asn) n.659T>A c.*77T>A (n.*77T>A) | dbSNP |
| 3 | g.10149846T>C | CA351756227 | VHL | c.*200T>C (n.*200T>C) c.659T>C (n.659T>C) c.634T>C (p.Tyr212His) c.523T>C (p.Tyr175His) c.400T>C (p.Tyr134His) n.659T>C c.*77T>C (n.*77T>C) | |
| 3 | g.10149846T>G | CA351756228 | VHL | c.*200T>G (n.*200T>G) c.659T>G (n.659T>G) c.634T>G (p.Tyr212Asp) c.523T>G (p.Tyr175Asp) c.400T>G (p.Tyr134Asp) n.659T>G c.*77T>G (n.*77T>G) | COSMIC |
| 3 | g.10149847del | CA432423433 | VHL | c.*201del (n.*201del) c.660del (n.660del) c.635del (p.Tyr212SerfsTer27) c.524del (p.Tyr175SerfsTer27) c.401del (p.Tyr134SerfsTer27) n.660del c.*78del (n.*78del) | COSMIC |
| 3 | g.10149847A= | CA1345062460 | VHL | c.*201A= (n.*201A=) c.660A= (n.660A=) c.635A= (p.Tyr212=) c.524A= (p.Tyr175=) c.401A= (p.Tyr134=) n.660A= c.*78A= (n.*78A=) | |
| 3 | g.10149847A>C | CA351756229 | VHL | c.*201A>C (n.*201A>C) c.660A>C (n.660A>C) c.635A>C (p.Tyr212Ser) c.524A>C (p.Tyr175Ser) c.401A>C (p.Tyr134Ser) n.660A>C c.*78A>C (n.*78A>C) | dbSNP |
| 3 | g.10149847A>G | CA020462 | VHL | c.*201A>G (n.*201A>G) c.660A>G (n.660A>G) c.635A>G (p.Tyr212Cys) c.524A>G (p.Tyr175Cys) c.401A>G (p.Tyr134Cys) n.660A>G c.*78A>G (n.*78A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149847A>T | CA351756230 | VHL | c.*201A>T (n.*201A>T) c.660A>T (n.660A>T) c.635A>T (p.Tyr212Phe) c.524A>T (p.Tyr175Phe) c.401A>T (p.Tyr134Phe) n.660A>T c.*78A>T (n.*78A>T) | ClinVar dbSNP |
| 3 | g.10149847dup | CA2580068484 | VHL | c.*201dup (n.*201dup) c.660dup (n.660dup) c.635dup (p.Tyr212Ter) c.524dup (p.Tyr175Ter) c.401dup (p.Tyr134Ter) n.660dup c.*78dup (n.*78dup) | ClinVar |