Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.77268643_77268646delinsACAT | CA2315413145 | GALR1 | c.791_794delinsACAT (p.His264=) | |
18 | g.77268648_77268650del | CA782666621 | GALR1 | c.796_798del (p.Ile266del) | dbSNP |
18 | g.77268645A= | CA2315413146 | GALR1 | c.793A= (p.Ile265=) | |
18 | g.77268645A>C | CA402807385 | GALR1 | c.793A>C (p.Ile265Leu) | |
18 | g.77268645A>G | CA402807387 | GALR1 | c.793A>G (p.Ile265Val) | gnomAD v4 |
18 | g.77268645A>T | CA9005971 | GALR1 | c.793A>T (p.Ile265Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.77268646T>A | CA402807389 | GALR1 | c.794T>A (p.Ile265Asn) | |
18 | g.77268646T>C | CA402807392 | GALR1 | c.794T>C (p.Ile265Thr) | |
18 | g.77268646T>G | CA402807394 | GALR1 | c.794T>G (p.Ile265Ser) | |
18 | g.77268646_77268649dup | CA631290588 | GALR1 | c.794_797dup (p.Leu268ProfsTer5) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.77268647C>A | CA504863640 | GALR1 | c.795C>A (p.Ile265=) | |
18 | g.77268647C>G | CA402807395 | GALR1 | c.795C>G (p.Ile265Met) | |
18 | g.77268647C>T | CA504863641 | GALR1 | c.795C>T (p.Ile265=) | COSMIC |
18 | g.77268648A>C | CA402807400 | GALR1 | c.796A>C (p.Ile266Leu) | |
18 | g.77268648A>G | CA402807398 | GALR1 | c.796A>G (p.Ile266Val) | gnomAD v4 |
18 | g.77268648A>T | CA402807401 | GALR1 | c.796A>T (p.Ile266Phe) | |
18 | g.77268649T>A | CA402807402 | GALR1 | c.797T>A (p.Ile266Asn) | |
18 | g.77268649T>C | CA402807404 | GALR1 | c.797T>C (p.Ile266Thr) | |
18 | g.77268649T>G | CA402807406 | GALR1 | c.797T>G (p.Ile266Ser) | |
18 | g.77268650C>A | CA504863643 | GALR1 | c.798C>A (p.Ile266=) | |
18 | g.77268650C= | CA2315413147 | GALR1 | c.798C= (p.Ile266=) | |
18 | g.77268650C>G | CA402807408 | GALR1 | c.798C>G (p.Ile266Met) | |
18 | g.77268650C>T | CA504863644 | GALR1 | c.798C>T (p.Ile266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.77268651C>A | CA402807409 | GALR1 | c.799C>A (p.His267Asn) | |
18 | g.77268651C= | CA2315413148 | GALR1 | c.799C= (p.His267=) | |
18 | g.77268651C>G | CA402807410 | GALR1 | c.799C>G (p.His267Asp) | |
18 | g.77268651C>T | CA302941782 | GALR1 | c.799C>T (p.His267Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.77268652A= | CA2315413149 | GALR1 | c.800A= (p.His267=) | |
18 | g.77268652A>C | CA402807411 | GALR1 | c.800A>C (p.His267Pro) | |
18 | g.77268652A>G | CA302941784 | GALR1 | c.800A>G (p.His267Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.77268652A>T | CA402807413 | GALR1 | c.800A>T (p.His267Leu) | |
18 | g.77268653T>A | CA402807415 | GALR1 | c.801T>A (p.His267Gln) | |
18 | g.77268653T>C | CA504863648 | GALR1 | c.801T>C (p.His267=) | dbSNP |
18 | g.77268653T>G | CA402807417 | GALR1 | c.801T>G (p.His267Gln) | |
18 | g.77268653T= | CA2315413150 | GALR1 | c.801T= (p.His267=) | |
18 | g.77268654C>A | CA402807422 | GALR1 | c.802C>A (p.Leu268Ile) | |
18 | g.77268654C>G | CA402807420 | GALR1 | c.802C>G (p.Leu268Val) | |
18 | g.77268654C>T | CA402807418 | GALR1 | c.802C>T (p.Leu268Phe) | |
18 | g.77268655T>A | CA402807424 | GALR1 | c.803T>A (p.Leu268His) | |
18 | g.77268655T>C | CA302941785 | GALR1 | c.803T>C (p.Leu268Pro) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.77268655T>G | CA402807426 | GALR1 | c.803T>G (p.Leu268Arg) | |
18 | g.77268655T= | CA2315413151 | GALR1 | c.803T= (p.Leu268=) | |
18 | g.77268656C>A | CA504863652 | GALR1 | c.804C>A (p.Leu268=) | |
18 | g.77268656C= | CA2315413152 | GALR1 | c.804C= (p.Leu268=) | |
18 | g.77268656C>G | CA302941787 | GALR1 | c.804C>G (p.Leu268=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.77268656C>T | CA504863653 | GALR1 | c.804C>T (p.Leu268=) | COSMIC |
18 | g.77268657T>A | CA402807428 | GALR1 | c.805T>A (p.Trp269Arg) | |
18 | g.77268657T>C | CA402807430 | GALR1 | c.805T>C (p.Trp269Arg) | |
18 | g.77268657T>G | CA402807432 | GALR1 | c.805T>G (p.Trp269Gly) | |
18 | g.77268658G>A | CA402807434 | GALR1 | c.806G>A (p.Trp269Ter) |