Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627182_50627183delinsAA | CA645612061 | ARSA | c.448_449delinsTT (p.Pro150Leu) c.190_191delinsTT (p.Pro64Leu) n.839_840delinsTT | COSMIC |
22 | g.50627183G>A | CA412180070 | ARSA | c.448C>T (p.Pro150Ser) c.190C>T (p.Pro64Ser) n.839C>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627183G>C | CA412180073 | ARSA | c.448C>G (p.Pro150Ala) c.190C>G (p.Pro64Ala) n.839C>G | |
22 | g.50627183G= | CA2410959475 | ARSA | c.448C= (p.Pro150=) c.190C= (p.Pro64=) n.839C= | |
22 | g.50627183G>T | CA412180076 | ARSA | c.448C>A (p.Pro150Thr) c.190C>A (p.Pro64Thr) n.839C>A | |
22 | g.50627184G>A | CA515391357 | ARSA | c.447C>T (p.Ile149=) c.189C>T (p.Ile63=) n.838C>T | |
22 | g.50627184G>C | CA412180080 | ARSA | c.447C>G (p.Ile149Met) c.189C>G (p.Ile63Met) n.838C>G | |
22 | g.50627184G>T | CA515391359 | ARSA | c.447C>A (p.Ile149=) c.189C>A (p.Ile63=) n.838C>A | |
22 | g.50627185A= | CA2410959476 | ARSA | c.446T= (p.Ile149=) c.188T= (p.Ile63=) n.837T= | |
22 | g.50627185A>C | CA412180085 | ARSA | c.446T>G (p.Ile149Ser) c.188T>G (p.Ile63Ser) n.837T>G | |
22 | g.50627185A>G | CA412180088 | ARSA | c.446T>C (p.Ile149Thr) c.188T>C (p.Ile63Thr) n.837T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627185A>T | CA412180091 | ARSA | c.446T>A (p.Ile149Asn) c.188T>A (p.Ile63Asn) n.837T>A | |
22 | g.50627186T>A | CA412180096 | ARSA | c.445A>T (p.Ile149Phe) c.187A>T (p.Ile63Phe) n.836A>T | |
22 | g.50627186T>C | CA412180099 | ARSA | c.445A>G (p.Ile149Val) c.187A>G (p.Ile63Val) n.836A>G | |
22 | g.50627186T>G | CA412180101 | ARSA | c.445A>C (p.Ile149Leu) c.187A>C (p.Ile63Leu) n.836A>C | |
22 | g.50627187G>A | CA515391365 | ARSA | c.444C>T (p.Gly148=) c.186C>T (p.Gly62=) n.835C>T | |
22 | g.50627187G>C | CA515391366 | ARSA | c.444C>G (p.Gly148=) c.186C>G (p.Gly62=) n.835C>G | |
22 | g.50627187G>T | CA515391368 | ARSA | c.444C>A (p.Gly148=) c.186C>A (p.Gly62=) n.835C>A | |
22 | g.50627188C>A | CA412180105 | ARSA | c.443G>T (p.Gly148Val) c.185G>T (p.Gly62Val) n.834G>T | |
22 | g.50627188C>G | CA412180109 | ARSA | c.443G>C (p.Gly148Ala) c.185G>C (p.Gly62Ala) n.834G>C | |
22 | g.50627188C>T | CA412180112 | ARSA | c.443G>A (p.Gly148Asp) c.185G>A (p.Gly62Asp) n.834G>A | |
22 | g.50627189C>A | CA412180116 | ARSA | c.442G>T (p.Gly148Cys) c.184G>T (p.Gly62Cys) n.833G>T | |
22 | g.50627189C= | CA2410959477 | ARSA | c.442G= (p.Gly148=) c.184G= (p.Gly62=) n.833G= | |
22 | g.50627189C>G | CA412180122 | ARSA | c.442G>C (p.Gly148Arg) c.184G>C (p.Gly62Arg) n.833G>C | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627189C>T | CA412180119 | ARSA | c.442G>A (p.Gly148Ser) c.184G>A (p.Gly62Ser) n.833G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627190T>A | CA515391374 | ARSA | c.441A>T (p.Leu147=) c.183A>T (p.Leu61=) n.832A>T | |
22 | g.50627190T>C | CA515391375 | ARSA | c.441A>G (p.Leu147=) c.183A>G (p.Leu61=) n.832A>G | gnomAD v4 |
22 | g.50627190T>G | CA515391376 | ARSA | c.441A>C (p.Leu147=) c.183A>C (p.Leu61=) n.832A>C | |
22 | g.50627191A>C | CA412180124 | ARSA | c.440T>G (p.Leu147Arg) c.182T>G (p.Leu61Arg) n.831T>G | |
22 | g.50627191A>G | CA412180126 | ARSA | c.440T>C (p.Leu147Pro) c.182T>C (p.Leu61Pro) n.831T>C | |
22 | g.50627191A>T | CA412180127 | ARSA | c.440T>A (p.Leu147Gln) c.182T>A (p.Leu61Gln) n.831T>A | |
22 | g.50627192G>A | CA515391382 | ARSA | c.439C>T (p.Leu147=) c.181C>T (p.Leu61=) n.830C>T | |
22 | g.50627192G>C | CA412180130 | ARSA | c.439C>G (p.Leu147Val) c.181C>G (p.Leu61Val) n.830C>G | |
22 | g.50627192G>T | CA412180132 | ARSA | c.439C>A (p.Leu147Ile) c.181C>A (p.Leu61Ile) n.830C>A | |
22 | g.50627193A>C | CA412180136 | ARSA | c.438T>G (p.Phe146Leu) c.180T>G (p.Phe60Leu) n.829T>G | |
22 | g.50627193A>G | CA515391386 | ARSA | c.438T>C (p.Phe146=) c.180T>C (p.Phe60=) n.829T>C | |
22 | g.50627193A>T | CA412180139 | ARSA | c.438T>A (p.Phe146Leu) c.180T>A (p.Phe60Leu) n.829T>A | |
22 | g.50627194A= | CA2410959478 | ARSA | c.437T= (p.Phe146=) c.179T= (p.Phe60=) n.828T= | |
22 | g.50627194A>C | CA412180145 | ARSA | c.437T>G (p.Phe146Cys) c.179T>G (p.Phe60Cys) n.828T>G | |
22 | g.50627194A>G | CA412180147 | ARSA | c.437T>C (p.Phe146Ser) c.179T>C (p.Phe60Ser) n.828T>C | |
22 | g.50627194A>T | CA412180150 | ARSA | c.437T>A (p.Phe146Tyr) c.179T>A (p.Phe60Tyr) n.828T>A | dbSNP |
22 | g.50627195A= | CA2410959479 | ARSA | c.436T= (p.Phe146=) c.178T= (p.Phe60=) n.827T= | |
22 | g.50627195A>C | CA412180155 | ARSA | c.436T>G (p.Phe146Val) c.178T>G (p.Phe60Val) n.827T>G | |
22 | g.50627195A>G | CA10325032 | ARSA | c.436T>C (p.Phe146Leu) c.178T>C (p.Phe60Leu) n.827T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627195A>T | CA412180161 | ARSA | c.436T>A (p.Phe146Ile) c.178T>A (p.Phe60Ile) n.827T>A | |
22 | g.50627196T>A | CA515391390 | ARSA | c.435A>T (p.Arg145=) c.177A>T (p.Arg59=) n.826A>T | |
22 | g.50627196T>C | CA515391391 | ARSA | c.435A>G (p.Arg145=) c.177A>G (p.Arg59=) n.826A>G | |
22 | g.50627196T>G | CA515391392 | ARSA | c.435A>C (p.Arg145=) c.177A>C (p.Arg59=) n.826A>C | |
22 | g.50627197C>A | CA412180165 | ARSA | c.434G>T (p.Arg145Leu) c.176G>T (p.Arg59Leu) n.825G>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627197C= | CA2410959480 | ARSA | c.434G= (p.Arg145=) c.176G= (p.Arg59=) n.825G= |