Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.156778557_156778599delinsACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCC | CA1675343584 | ARID1B | c.877_919delinsACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCC (p.Thr293=) c.628_670delinsACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCC (p.Thr210=) c.617_659delinsACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCC n.711_753delinsACGCAGCAGCCGCCGGTCGCCGTGCCCGGGGGCGGCGGCGGCC | |
6 | g.156778560_156778601del | CA917897299 | ARID1B | c.880_921del (p.Gln294_Pro307del) c.631_672del (p.Gln211_Pro224del) c.620_661del n.714_755del | dbSNP |
6 | g.156778573_156778605del | CA2680909389 | ARID1B | c.893_925del (p.Val298_Ala308del) c.644_676del (p.Val215_Ala225del) c.633_665del n.727_759del | gnomAD v4 |
6 | g.156778573_156778606delinsTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGC | CA1675343591 | ARID1B | c.893_926delinsTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGC (p.Val298=) c.644_677delinsTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGC (p.Val215=) c.633_666delinsTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGC n.727_760delinsTCGCCGTGCCCGGGGGCGGCGGCGGCCCGGCGGC | |
6 | g.156778576_156778608del | CA571907180 | ARID1B | c.896_928del (p.Ala299_Ala309del) c.647_679del (p.Ala216_Ala226del) c.636_668del n.730_762del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.156778580_156778609dup | CA1096260660 | ARID1B | c.900_929dup (p.Val310_Pro311insProGlyGlyGlyGlyGlyProAlaAlaVal) c.651_680dup (p.Val227_Pro228insProGlyGlyGlyGlyGlyProAlaAlaVal) c.640_669dup n.734_763dup | dbSNP gnomAD v3 gnomAD v4 |
6 | g.156778583_156778612del | CA2578779889 | ARID1B | c.903_932del (p.Gly302_Pro311del) c.654_683del (p.Gly219_Pro228del) c.643_672del n.737_766del | |
6 | g.156778596_156778598dup | CA150802745 | ARID1B | c.916_918dup (p.Gly306_Pro307insGly) c.667_669dup (p.Gly223_Pro224insGly) c.656_658dup n.750_752dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.156778596_156778598del | CA452989175 | ARID1B | c.916_918del (p.Gly306del) c.667_669del (p.Gly223del) c.656_658del n.750_752del | ClinVar gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.156778590_156778649del | CA2680909408 | ARID1B | c.910_969del (p.Gly304_Ala323del) c.661_720del (p.Gly221_Ala240del) c.650_709del n.744_803del | gnomAD v4 |
6 | g.156778601_156778660del | CA2680909409 | ARID1B | c.921_980del (p.Ala308_Pro327del) c.672_731del (p.Ala225_Pro244del) c.661_720del n.755_814del | gnomAD v4 |
6 | g.156778597_156778598del | CA366382400 | ARID1B | c.917_918del (p.Gly306AlafsTer8) c.668_669del (p.Gly223AlafsTer8) c.657_658del n.751_752del | |
6 | g.156778598C>A | CA452989217 | ARID1B | c.918C>A (p.Gly306=) c.669C>A (p.Gly223=) c.658C>A n.752C>A | ClinVar gnomAD v4 |
6 | g.156778598C= | CA1675343611 | ARID1B | c.918C= (p.Gly306=) c.669C= (p.Gly223=) c.658C= n.752C= | |
6 | g.156778598C>G | CA452989218 | ARID1B | c.918C>G (p.Gly306=) c.669C>G (p.Gly223=) c.658C>G n.752C>G | gnomAD v4 |
6 | g.156778598C>T | CA452989219 | ARID1B | c.918C>T (p.Gly306=) c.669C>T (p.Gly223=) c.658C>T n.752C>T | dbSNP gnomAD v4 |
6 | g.156778600del | CA2680909413 | ARID1B | c.920del (p.Pro307ArgfsTer?) c.671del (p.Pro224ArgfsTer?) c.660del n.754del | gnomAD v4 |
6 | g.156778599_156778600del | CA1096260704 | ARID1B | c.919_920del (p.Pro307GlyfsTer7) c.670_671del (p.Pro224GlyfsTer7) c.659_660del n.753_754del | gnomAD v3 gnomAD v4 |
6 | g.156778609_156778669del | CA2680909412 | ARID1B | c.929_989del (p.Val310AlafsTer19) c.680_740del (p.Val227AlafsTer19) c.669_729del n.763_823del | gnomAD v4 |
6 | g.156778598_156778599insG | CA571907181 | ARID1B | c.918_919insG (p.Pro307AlafsTer8) c.669_670insG (p.Pro224AlafsTer8) c.658_659insG n.752_753insG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.156778598_156778599insGG | CA1096260728 | ARID1B | c.918_919insGG (p.Pro307GlyfsTer?) c.669_670insGG (p.Pro224GlyfsTer?) c.658_659insGG n.752_753insGG | gnomAD v3 gnomAD v4 |
6 | g.156778599C>A | CA366382408 | ARID1B | c.919C>A (p.Pro307Thr) c.670C>A (p.Pro224Thr) c.659C>A n.753C>A | gnomAD v4 |
6 | g.156778599C= | CA1675343612 | ARID1B | c.919C= (p.Pro307=) c.670C= (p.Pro224=) c.659C= n.753C= | |
6 | g.156778599C>G | CA366382410 | ARID1B | c.919C>G (p.Pro307Ala) c.670C>G (p.Pro224Ala) c.659C>G n.753C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.156778599C>T | CA366382412 | ARID1B | c.919C>T (p.Pro307Ser) c.670C>T (p.Pro224Ser) c.659C>T n.753C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.156778601_156778611dup | CA2739289467 | ARID1B | c.921_931dup (p.Pro311ArgfsTer?) c.672_682dup (p.Pro228ArgfsTer?) c.661_671dup n.755_765dup | |
6 | g.156778599_156778600insG | CA1096260733 | ARID1B | c.919_920insG (p.Pro307ArgfsTer8) c.670_671insG (p.Pro224ArgfsTer8) c.659_660insG n.753_754insG | gnomAD v3 gnomAD v4 |
6 | g.156778599_156778600insGG | CA1096260737 | ARID1B | c.919_920insGG (p.Pro307ArgfsTer?) c.670_671insGG (p.Pro224ArgfsTer?) c.659_660insGG n.753_754insGG | gnomAD v3 gnomAD v4 |
6 | g.156778600C>A | CA366382414 | ARID1B | c.920C>A (p.Pro307Gln) c.671C>A (p.Pro224Gln) c.660C>A n.754C>A | dbSNP gnomAD v4 |
6 | g.156778600C= | CA1675343613 | ARID1B | c.920C= (p.Pro307=) c.671C= (p.Pro224=) c.660C= n.754C= | |
6 | g.156778600C>G | CA366382416 | ARID1B | c.920C>G (p.Pro307Arg) c.671C>G (p.Pro224Arg) c.660C>G n.754C>G | dbSNP gnomAD v4 |
6 | g.156778600C>T | CA366382418 | ARID1B | c.920C>T (p.Pro307Leu) c.671C>T (p.Pro224Leu) c.660C>T n.754C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.156778600_156778601del | CA1096260750 | ARID1B | c.920_921del (p.Pro307ArgfsTer7) c.671_672del (p.Pro224ArgfsTer7) c.660_661del n.754_755del | gnomAD v3 gnomAD v4 |
6 | g.156778601G>A | CA452989229 | ARID1B | c.921G>A (p.Pro307=) c.672G>A (p.Pro224=) c.661G>A n.755G>A | dbSNP gnomAD v4 |
6 | g.156778601G>C | CA452989230 | ARID1B | c.921G>C (p.Pro307=) c.672G>C (p.Pro224=) c.661G>C n.755G>C | dbSNP |
6 | g.156778601G= | CA1675343614 | ARID1B | c.921G= (p.Pro307=) c.672G= (p.Pro224=) c.661G= n.755G= | |
6 | g.156778601G>T | CA452989231 | ARID1B | c.921G>T (p.Pro307=) c.672G>T (p.Pro224=) c.661G>T n.755G>T | gnomAD v4 |
6 | g.156778602del | CA2680909414 | ARID1B | c.922del (p.Ala308ArgfsTer?) c.673del (p.Ala225ArgfsTer?) c.662del n.756del | gnomAD v4 |
6 | g.156778602G>A | CA366382420 | ARID1B | c.922G>A (p.Ala308Thr) c.673G>A (p.Ala225Thr) c.662G>A n.756G>A | dbSNP gnomAD v4 |
6 | g.156778602G>C | CA366382421 | ARID1B | c.922G>C (p.Ala308Pro) c.673G>C (p.Ala225Pro) c.662G>C n.756G>C | dbSNP gnomAD v4 |
6 | g.156778602G= | CA1675343615 | ARID1B | c.922G= (p.Ala308=) c.673G= (p.Ala225=) c.662G= n.756G= | |
6 | g.156778602G>T | CA366382424 | ARID1B | c.922G>T (p.Ala308Ser) c.673G>T (p.Ala225Ser) c.662G>T n.756G>T | gnomAD v4 |
6 | g.156778603C>A | CA366382430 | ARID1B | c.923C>A (p.Ala308Glu) c.674C>A (p.Ala225Glu) c.663C>A n.757C>A | gnomAD v4 |
6 | g.156778603C= | CA1675343616 | ARID1B | c.923C= (p.Ala308=) c.674C= (p.Ala225=) c.663C= n.757C= | |
6 | g.156778603C>G | CA366382428 | ARID1B | c.923C>G (p.Ala308Gly) c.674C>G (p.Ala225Gly) c.663C>G n.757C>G | ClinVar dbSNP gnomAD v4 |
6 | g.156778603C>T | CA366382426 | ARID1B | c.923C>T (p.Ala308Val) c.674C>T (p.Ala225Val) c.663C>T n.757C>T | dbSNP gnomAD v4 |
6 | g.156778603dup | CA2713373373 | ARID1B | c.923dup (p.Ala309GlyfsTer6) c.674dup (p.Ala226GlyfsTer6) c.663dup n.757dup | dbSNP |
6 | g.156778604G>A | CA452989237 | ARID1B | c.924G>A (p.Ala308=) c.675G>A (p.Ala225=) c.664G>A n.758G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.156778604G>C | CA150802747 | ARID1B | c.924G>C (p.Ala308=) c.675G>C (p.Ala225=) c.664G>C n.758G>C | dbSNP |
6 | g.156778604G= | CA1675343617 | ARID1B | c.924G= (p.Ala308=) c.675G= (p.Ala225=) c.664G= n.758G= |