| 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_10149801del | CA645525022 | VHL | c.*141_*155del c.600_614del c.575_589del c.464_478del c.341_355del n.600_614del c.*18_*32del | COSMIC |
| 3 | g.10149787_10149803del | CA2580068476 | VHL | c.*141_*157del c.600_616del c.575_591del c.464_480del c.341_357del n.600_616del c.*18_*34del | ClinVar |
| 3 | g.10149787_10149797del | CA645525029 | VHL | c.*141_*151del c.600_610del c.575_585del c.464_474del c.341_351del n.600_610del c.*18_*28del | COSMIC |
| 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.10149791_10149799del | CA645525035 | VHL | c.*145_*153del (n.*145_*153del) c.604_612del (n.604_612del) c.579_587del (p.Tyr193Ter) c.468_476del (p.Tyr156Ter) c.345_353del (p.Tyr115Ter) n.604_612del c.*22_*30del (n.*22_*30del) | COSMIC |
| 3 | g.10149792_10149800del | CA645525038 | VHL | c.*146_*154del (n.*146_*154del) c.605_613del (n.605_613del) c.580_588del (p.Thr194_Lys196del) c.469_477del (p.Thr157_Lys159del) c.346_354del (p.Thr116_Lys118del) n.605_613del c.*23_*31del (n.*23_*31del) | COSMIC |
| 3 | g.10149792_10149800delinsT | CA645525040 | VHL | c.*146_*154delinsT (n.*146_*154delinsT) c.605_613delinsT (n.605_613delinsT) c.580_588delinsT (p.Thr194Ter) c.469_477delinsT (p.Thr157Ter) c.346_354delinsT (p.Thr116Ter) n.605_613delinsT c.*23_*31delinsT (n.*23_*31delinsT) | COSMIC |
| 3 | g.10149793_10149800del | CA645525039 | VHL | c.*147_*154del (n.*147_*154del) c.606_613del (n.606_613del) c.581_588del (p.Thr194ArgfsTer14) c.470_477del (p.Thr157ArgfsTer14) c.347_354del (p.Thr116ArgfsTer14) n.606_613del c.*24_*31del (n.*24_*31del) | COSMIC |
| 3 | g.10149793_10149799delinsT | CA645525041 | VHL | c.*147_*153delinsT (n.*147_*153delinsT) c.606_612delinsT (n.606_612delinsT) c.581_587delinsT (p.Thr194_Lys196delinsIle) c.470_476delinsT (p.Thr157_Lys159delinsIle) c.347_353delinsT (p.Thr116_Lys118delinsIle) n.606_612delinsT c.*24_*30delinsT (n.*24_*30delinsT) | COSMIC |
| 3 | g.10149796_10149821dup | CA645525044 | VHL | c.*150_*175dup (n.*150_*175dup) c.609_634dup (n.609_634dup) c.584_609dup (p.Arg204Ter) c.473_498dup (p.Arg167Ter) c.350_375dup (p.Arg126Ter) n.609_634dup c.*27_*52dup (n.*27_*52dup) | COSMIC |
| 3 | g.10149795_10149800del | CA645525045 | VHL | c.*149_*154del (n.*149_*154del) c.608_613del (n.608_613del) c.583_588del (p.Leu195_Lys196del) c.472_477del (p.Leu158_Lys159del) c.349_354del (p.Leu117_Lys118del) n.608_613del c.*26_*31del (n.*26_*31del) | COSMIC |
| 3 | g.10149795_10149813del | CA645525046 | VHL | c.*149_*167del (n.*149_*167del) c.608_626del (n.608_626del) c.583_601del (p.Leu195ArgfsTer6) c.472_490del (p.Leu158ArgfsTer6) c.349_367del (p.Leu117ArgfsTer6) n.608_626del c.*26_*44del (n.*26_*44del) | COSMIC |
| 3 | g.10149796_10149797del | CA645525047 | VHL | c.*150_*151del (n.*150_*151del) c.609_610del (n.609_610del) c.584_585del (p.Leu195GlnfsTer15) c.473_474del (p.Leu158GlnfsTer15) c.350_351del (p.Leu117GlnfsTer15) n.609_610del c.*27_*28del (n.*27_*28del) | COSMIC |
| 3 | g.10149796_10149797delinsCC | CA645525048 | VHL | c.*150_*151delinsCC (n.*150_*151delinsCC) c.609_610delinsCC (n.609_610delinsCC) c.584_585delinsCC (p.Leu195Pro) c.473_474delinsCC (p.Leu158Pro) c.350_351delinsCC (p.Leu117Pro) n.609_610delinsCC c.*27_*28delinsCC (n.*27_*28delinsCC) | COSMIC |
| 3 | g.10149796_10149799delinsTGAA | CA1345062171 | VHL | c.*150_*153delinsTGAA (n.*150_*153delinsTGAA) c.609_612delinsTGAA (n.609_612delinsTGAA) c.584_587delinsTGAA (p.Leu195=) c.473_476delinsTGAA (p.Leu158=) c.350_353delinsTGAA (p.Leu117=) n.609_612delinsTGAA c.*27_*30delinsTGAA (n.*27_*30delinsTGAA) | |
| 3 | g.10149797G>A | CA432423100 | VHL | c.*151G>A (n.*151G>A) c.610G>A (n.610G>A) c.585G>A (p.Leu195=) c.474G>A (p.Leu158=) c.351G>A (p.Leu117=) n.610G>A c.*28G>A (n.*28G>A) | |
| 3 | g.10149797G>C | CA432423102 | VHL | c.*151G>C (n.*151G>C) c.610G>C (n.610G>C) c.585G>C (p.Leu195=) c.474G>C (p.Leu158=) c.351G>C (p.Leu117=) n.610G>C c.*28G>C (n.*28G>C) | COSMIC |
| 3 | g.10149797G= | CA1345062180 | VHL | c.*151G= (n.*151G=) c.610G= (n.610G=) c.585G= (p.Leu195=) c.474G= (p.Leu158=) c.351G= (p.Leu117=) n.610G= c.*28G= (n.*28G=) | |
| 3 | g.10149797G>T | CA432423109 | VHL | c.*151G>T (n.*151G>T) c.610G>T (n.610G>T) c.585G>T (p.Leu195=) c.474G>T (p.Leu158=) c.351G>T (p.Leu117=) n.610G>T c.*28G>T (n.*28G>T) | ClinVar dbSNP |
| 3 | g.10149797_10149798delinsGA | CA1345062179 | VHL | c.*151_*152delinsGA (n.*151_*152delinsGA) c.610_611delinsGA (n.610_611delinsGA) c.585_586delinsGA (p.Leu195=) c.474_475delinsGA (p.Leu158=) c.351_352delinsGA (p.Leu117=) n.610_611delinsGA c.*28_*29delinsGA (n.*28_*29delinsGA) | |
| 3 | g.10149797_10149799delinsC | CA658683298 | VHL | c.*151_*153delinsC (n.*151_*153delinsC) c.610_612delinsC (n.610_612delinsC) c.585_587delinsC (p.Lys196ArgfsTer14) c.474_476delinsC (p.Lys159ArgfsTer14) c.351_353delinsC (p.Lys118ArgfsTer14) n.610_612delinsC c.*28_*30delinsC (n.*28_*30delinsC) | ClinVar dbSNP |
| 3 | g.10149799_10149802del | CA645525049 | VHL | c.*153_*156del (n.*153_*156del) c.612_615del (n.612_615del) c.587_590del (p.Lys196SerfsTer10) c.476_479del (p.Lys159SerfsTer10) c.353_356del (p.Lys118SerfsTer10) n.612_615del c.*30_*33del (n.*30_*33del) | COSMIC |
| 3 | g.10149798_10149816del | CA2586965661 | VHL | c.*152_*170del (n.*152_*170del) c.611_629del (n.611_629del) c.586_604del (p.Lys196LeufsTer5) c.475_493del (p.Lys159LeufsTer5) c.352_370del (p.Lys118LeufsTer5) n.611_629del c.*29_*47del (n.*29_*47del) | |
| 3 | g.10149797_10149798insT | CA432423112 | VHL | c.*151_*152insT (n.*151_*152insT) c.610_611insT (n.610_611insT) c.585_586insT (p.Lys196Ter) c.474_475insT (p.Lys159Ter) c.351_352insT (p.Lys118Ter) n.610_611insT c.*28_*29insT (n.*28_*29insT) | |
| 3 | g.10149798A= | CA1345062192 | VHL | c.*152A= (n.*152A=) c.611A= (n.611A=) c.586A= (p.Lys196=) c.475A= (p.Lys159=) c.352A= (p.Lys118=) n.611A= c.*29A= (n.*29A=) | |
| 3 | g.10149798A>C | CA351756076 | VHL | c.*152A>C (n.*152A>C) c.611A>C (n.611A>C) c.586A>C (p.Lys196Gln) c.475A>C (p.Lys159Gln) c.352A>C (p.Lys118Gln) n.611A>C c.*29A>C (n.*29A>C) | |
| 3 | g.10149798A>G | CA351756078 | VHL | c.*152A>G (n.*152A>G) c.611A>G (n.611A>G) c.586A>G (p.Lys196Glu) c.475A>G (p.Lys159Glu) c.352A>G (p.Lys118Glu) n.611A>G c.*29A>G (n.*29A>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149798A>T | CA351756080 | VHL | c.*152A>T (n.*152A>T) c.611A>T (n.611A>T) c.586A>T (p.Lys196Ter) c.475A>T (p.Lys159Ter) c.352A>T (p.Lys118Ter) n.611A>T c.*29A>T (n.*29A>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149800dup | CA432423121 | VHL | c.*154dup (n.*154dup) c.613dup (n.613dup) c.588dup (p.Glu197ArgfsTer14) c.477dup (p.Glu160ArgfsTer14) c.354dup (p.Glu119ArgfsTer14) n.613dup c.*31dup (n.*31dup) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10149800del | CA020404 | VHL | c.*154del (n.*154del) c.613del (n.613del) c.588del (p.Glu197SerfsTer10) c.477del (p.Glu160SerfsTer10) c.354del (p.Glu119SerfsTer10) n.613del c.*31del (n.*31del) | ClinVar dbSNP COSMIC |
| 3 | g.10149798_10149803delinsT | CA645525050 | VHL | c.*152_*157delinsT (n.*152_*157delinsT) c.611_616delinsT (n.611_616delinsT) c.586_591delinsT (p.Lys196SerfsTer13) c.475_480delinsT (p.Lys159SerfsTer13) c.352_357delinsT (p.Lys118SerfsTer13) n.611_616delinsT c.*29_*34delinsT (n.*29_*34delinsT) | COSMIC |
| 3 | g.10149798_10149799insTTT | CA2573130359 | VHL | c.*152_*153insTTT (n.*152_*153insTTT) c.611_612insTTT (n.611_612insTTT) c.586_587insTTT (p.Lys196IlefsTer2) c.475_476insTTT (p.Lys159IlefsTer2) c.352_353insTTT (p.Lys118IlefsTer2) n.611_612insTTT c.*29_*30insTTT (n.*29_*30insTTT) | |
| 3 | g.10149799A>C | CA351756083 | VHL | c.*153A>C (n.*153A>C) c.612A>C (n.612A>C) c.587A>C (p.Lys196Thr) c.476A>C (p.Lys159Thr) c.353A>C (p.Lys118Thr) n.612A>C c.*30A>C (n.*30A>C) | |
| 3 | g.10149799A>G | CA351756086 | VHL | c.*153A>G (n.*153A>G) c.612A>G (n.612A>G) c.587A>G (p.Lys196Arg) c.476A>G (p.Lys159Arg) c.353A>G (p.Lys118Arg) n.612A>G c.*30A>G (n.*30A>G) | dbSNP |
| 3 | g.10149799A>T | CA351756087 | VHL | c.*153A>T (n.*153A>T) c.612A>T (n.612A>T) c.587A>T (p.Lys196Ile) c.476A>T (p.Lys159Ile) c.353A>T (p.Lys118Ile) n.612A>T c.*30A>T (n.*30A>T) | dbSNP |