Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.3585598_3586994del | CA2573054751 | GIPC3 | c.1_592del | ClinVar |
19 | g.3586550dup | CA9080361 | GIPC3 | c.281dup (p.Gln95SerfsTer23) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3586550del | CA631711951 | GIPC3 | c.281del (p.Gly94ValfsTer3) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3586545_3586562delinsGGGGGGTCAGATAGGCCT | CA2318941033 | GIPC3 | c.276_293delinsGGGGGGTCAGATAGGCCT (p.Leu92=) | |
19 | g.3586548_3586564del | CA184146 | GIPC3 | c.279_295del (p.Gln95LeufsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.3586548G>A | CA9080364 | GIPC3 | c.279G>A (p.Gly93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3586548G>C | CA505154790 | GIPC3 | c.279G>C (p.Gly93=) | gnomAD v4 |
19 | g.3586548G= | CA2318941036 | GIPC3 | c.279G= (p.Gly93=) | |
19 | g.3586548G>T | CA505154792 | GIPC3 | c.279G>T (p.Gly93=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3586549G>A | CA403361181 | GIPC3 | c.280G>A (p.Gly94Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3586549G>C | CA403361182 | GIPC3 | c.280G>C (p.Gly94Arg) | |
19 | g.3586549G= | CA2318941037 | GIPC3 | c.280G= (p.Gly94=) | |
19 | g.3586549G>T | CA403361184 | GIPC3 | c.280G>T (p.Gly94Cys) | |
19 | g.3586550G>A | CA9080366 | GIPC3 | c.281G>A (p.Gly94Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.3586550G>C | CA9080365 | GIPC3 | c.281G>C (p.Gly94Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3586550G= | CA2318941038 | GIPC3 | c.281G= (p.Gly94=) | |
19 | g.3586550G>T | CA403361186 | GIPC3 | c.281G>T (p.Gly94Val) | ClinVar |
19 | g.3586551T>A | CA505154794 | GIPC3 | c.282T>A (p.Gly94=) | |
19 | g.3586551T>C | CA505154795 | GIPC3 | c.282T>C (p.Gly94=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3586551T>G | CA505154796 | GIPC3 | c.282T>G (p.Gly94=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3586551T= | CA2318941039 | GIPC3 | c.282T= (p.Gly94=) | |
19 | g.3586552C>A | CA403361191 | GIPC3 | c.283C>A (p.Gln95Lys) | |
19 | g.3586552C>G | CA403361193 | GIPC3 | c.283C>G (p.Gln95Glu) | |
19 | g.3586552C>T | CA403361197 | GIPC3 | c.283C>T (p.Gln95Ter) | |
19 | g.3586553A>C | CA403361202 | GIPC3 | c.284A>C (p.Gln95Pro) | |
19 | g.3586553A>G | CA403361204 | GIPC3 | c.284A>G (p.Gln95Arg) | |
19 | g.3586553A>T | CA403361206 | GIPC3 | c.284A>T (p.Gln95Leu) | |
19 | g.3586554G>A | CA505154797 | GIPC3 | c.285G>A (p.Gln95=) | |
19 | g.3586554G>C | CA403361208 | GIPC3 | c.285G>C (p.Gln95His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3586554G= | CA2318941040 | GIPC3 | c.285G= (p.Gln95=) | |
19 | g.3586554G>T | CA403361209 | GIPC3 | c.285G>T (p.Gln95His) | |
19 | g.3586555A= | CA2318941041 | GIPC3 | c.286A= (p.Ile96=) | |
19 | g.3586555A>C | CA403361211 | GIPC3 | c.286A>C (p.Ile96Leu) | |
19 | g.3586555A>G | CA403361214 | GIPC3 | c.286A>G (p.Ile96Val) | gnomAD v4 |
19 | g.3586555A>T | CA9080367 | GIPC3 | c.286A>T (p.Ile96Leu) | dbSNP ExAC gnomAD v2 |
19 | g.3586556T>A | CA403361218 | GIPC3 | c.287T>A (p.Ile96Lys) | |
19 | g.3586556T>C | CA403361220 | GIPC3 | c.287T>C (p.Ile96Thr) | |
19 | g.3586556T>G | CA403361219 | GIPC3 | c.287T>G (p.Ile96Arg) | |
19 | g.3586557A= | CA2318941042 | GIPC3 | c.288A= (p.Ile96=) | |
19 | g.3586557A>C | CA505154800 | GIPC3 | c.288A>C (p.Ile96=) | |
19 | g.3586557A>G | CA9080368 | GIPC3 | c.288A>G (p.Ile96Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3586557A>T | CA505154798 | GIPC3 | c.288A>T (p.Ile96=) | |
19 | g.3586558G>A | CA403361221 | GIPC3 | c.289G>A (p.Gly97Ser) | gnomAD v4 |
19 | g.3586558G>C | CA403361224 | GIPC3 | c.289G>C (p.Gly97Arg) | |
19 | g.3586558G>T | CA403361226 | GIPC3 | c.289G>T (p.Gly97Cys) | gnomAD v4 |
19 | g.3586559G>A | CA403361229 | GIPC3 | c.290G>A (p.Gly97Asp) | gnomAD v4 |
19 | g.3586559G>C | CA403361230 | GIPC3 | c.290G>C (p.Gly97Ala) | |
19 | g.3586559G>T | CA403361231 | GIPC3 | c.290G>T (p.Gly97Val) | gnomAD v4 |
19 | g.3586560C>A | CA505154802 | GIPC3 | c.291C>A (p.Gly97=) | |
19 | g.3586560C= | CA2318941043 | GIPC3 | c.291C= (p.Gly97=) |