| 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.10149895_10149897del | CA2702130633 | VHL | c.*249_*251del (n.*249_*251del) c.708_710del (n.708_710del) c.683_685del (p.His228del) c.572_574del (p.His191del) c.449_451del (p.His150del) n.708_710del c.*126_*128del (n.*126_*128del) | dbSNP |
| 3 | g.10149894_10149898del | CA645529563 | VHL | c.*248_*252del (n.*248_*252del) c.707_711del (n.707_711del) c.682_686del (p.His228LysfsTer?) c.571_575del (p.His191LysfsTer?) c.448_452del (p.His150LysfsTer?) n.707_711del c.*125_*129del (n.*125_*129del) | COSMIC |
| 3 | g.10149896_10149899del | CA645529564 | VHL | c.*250_*253del (n.*250_*253del) c.709_712del (n.709_712del) c.684_687del (p.His228GlnfsTer10) c.573_576del (p.His191GlnfsTer10) c.450_453del (p.His150GlnfsTer10) n.709_712del c.*127_*130del (n.*127_*130del) | COSMIC |
| 3 | g.10149896_10149900del | CA645529565 | VHL | c.*250_*254del (n.*250_*254del) c.709_713del (n.709_713del) c.684_688del (p.His228GlnfsTer?) c.573_577del (p.His191GlnfsTer?) c.450_454del (p.His150GlnfsTer?) n.709_713del c.*127_*131del (n.*127_*131del) | COSMIC |
| 3 | g.10149898del | CA432423729 | VHL | c.*252del (n.*252del) c.711del (n.711del) c.686del (p.Pro229GlnfsTer10) c.575del (p.Pro192GlnfsTer10) c.452del (p.Pro151GlnfsTer10) n.711del c.*129del (n.*129del) | ClinVar dbSNP COSMIC |
| 3 | g.10149897C>A | CA351756433 | VHL | c.*251C>A (n.*251C>A) c.710C>A (n.710C>A) c.685C>A (p.Pro229Thr) c.574C>A (p.Pro192Thr) c.451C>A (p.Pro151Thr) n.710C>A c.*128C>A (n.*128C>A) | ClinVar dbSNP |
| 3 | g.10149897C= | CA1345062743 | VHL | c.*251C= (n.*251C=) c.710C= (n.710C=) c.685C= (p.Pro229=) c.574C= (p.Pro192=) c.451C= (p.Pro151=) n.710C= c.*128C= (n.*128C=) | |
| 3 | g.10149897C>G | CA351756437 | VHL | c.*251C>G (n.*251C>G) c.710C>G (n.710C>G) c.685C>G (p.Pro229Ala) c.574C>G (p.Pro192Ala) c.451C>G (p.Pro151Ala) n.710C>G c.*128C>G (n.*128C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149897C>T | CA020501 | VHL | c.*251C>T (n.*251C>T) c.710C>T (n.710C>T) c.685C>T (p.Pro229Ser) c.574C>T (p.Pro192Ser) c.451C>T (p.Pro151Ser) n.710C>T c.*128C>T (n.*128C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 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.10149898C>A | CA351756440 | VHL | c.*252C>A (n.*252C>A) c.711C>A (n.711C>A) c.686C>A (p.Pro229Gln) c.575C>A (p.Pro192Gln) c.452C>A (p.Pro151Gln) n.711C>A c.*129C>A (n.*129C>A) | |
| 3 | g.10149898C= | CA1345062756 | VHL | c.*252C= (n.*252C=) c.711C= (n.711C=) c.686C= (p.Pro229=) c.575C= (p.Pro192=) c.452C= (p.Pro151=) n.711C= c.*129C= (n.*129C=) | |
| 3 | g.10149898C>G | CA70052552 | VHL | c.*252C>G (n.*252C>G) c.711C>G (n.711C>G) c.686C>G (p.Pro229Arg) c.575C>G (p.Pro192Arg) c.452C>G (p.Pro151Arg) n.711C>G c.*129C>G (n.*129C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149898C>T | CA351756444 | VHL | c.*252C>T (n.*252C>T) c.711C>T (n.711C>T) c.686C>T (p.Pro229Leu) c.575C>T (p.Pro192Leu) c.452C>T (p.Pro151Leu) n.711C>T c.*129C>T (n.*129C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149899A= | CA1345062763 | VHL | c.*253A= (n.*253A=) c.712A= (n.712A=) c.687A= (p.Pro229=) c.576A= (p.Pro192=) c.453A= (p.Pro151=) n.712A= c.*130A= (n.*130A=) | |
| 3 | g.10149899A>C | CA432423739 | VHL | c.*253A>C (n.*253A>C) c.712A>C (n.712A>C) c.687A>C (p.Pro229=) c.576A>C (p.Pro192=) c.453A>C (p.Pro151=) n.712A>C c.*130A>C (n.*130A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149899A>G | CA432423744 | VHL | c.*253A>G (n.*253A>G) c.712A>G (n.712A>G) c.687A>G (p.Pro229=) c.576A>G (p.Pro192=) c.453A>G (p.Pro151=) n.712A>G c.*130A>G (n.*130A>G) | |
| 3 | g.10149899A>T | CA432423742 | VHL | c.*253A>T (n.*253A>T) c.712A>T (n.712A>T) c.687A>T (p.Pro229=) c.576A>T (p.Pro192=) c.453A>T (p.Pro151=) n.712A>T c.*130A>T (n.*130A>T) | dbSNP |
| 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.10149900A>C | CA351756446 | VHL | c.*254A>C (n.*254A>C) c.713A>C (n.713A>C) c.688A>C (p.Asn230His) c.577A>C (p.Asn193His) c.454A>C (p.Asn152His) n.713A>C c.*131A>C (n.*131A>C) | |
| 3 | g.10149900A>G | CA351756447 | VHL | c.*254A>G (n.*254A>G) c.713A>G (n.713A>G) c.688A>G (p.Asn230Asp) c.577A>G (p.Asn193Asp) c.454A>G (p.Asn152Asp) n.713A>G c.*131A>G (n.*131A>G) | |
| 3 | g.10149900A>T | CA351756450 | VHL | c.*254A>T (n.*254A>T) c.713A>T (n.713A>T) c.688A>T (p.Asn230Tyr) c.577A>T (p.Asn193Tyr) c.454A>T (p.Asn152Tyr) n.713A>T c.*131A>T (n.*131A>T) | dbSNP |
| 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) |