Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.3585598_3586994del | CA2573054751 | GIPC3 | c.1_592del | ClinVar |
19 | g.3586946_3586950del | CA2522990190 | GIPC3 | c.544_548del (p.Lys182ProfsTer?) | |
19 | g.3586947A= | CA2318941223 | GIPC3 | c.545A= (p.Lys182=) | |
19 | g.3586947A>C | CA304415353 | GIPC3 | c.545A>C (p.Lys182Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.3586947A>G | CA403362569 | GIPC3 | c.545A>G (p.Lys182Arg) | |
19 | g.3586947A>T | CA403362568 | GIPC3 | c.545A>T (p.Lys182Met) | |
19 | g.3586948G>A | CA9080437 | GIPC3 | c.546G>A (p.Lys182=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3586948G>C | CA403362572 | GIPC3 | c.546G>C (p.Lys182Asn) | |
19 | g.3586948G= | CA2318941224 | GIPC3 | c.546G= (p.Lys182=) | |
19 | g.3586948G>T | CA304415360 | GIPC3 | c.546G>T (p.Lys182Asn) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3586949T>A | CA403362576 | GIPC3 | c.547T>A (p.Ser183Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3586949T>C | CA403362580 | GIPC3 | c.547T>C (p.Ser183Pro) | |
19 | g.3586949T>G | CA403362581 | GIPC3 | c.547T>G (p.Ser183Ala) | |
19 | g.3586949T= | CA2318941225 | GIPC3 | c.547T= (p.Ser183=) | |
19 | g.3586950C>A | CA403362584 | GIPC3 | c.548C>A (p.Ser183Tyr) | |
19 | g.3586950C>G | CA403362587 | GIPC3 | c.548C>G (p.Ser183Cys) | |
19 | g.3586950C>T | CA403362588 | GIPC3 | c.548C>T (p.Ser183Phe) | |
19 | g.3586951C>A | CA504967796 | GIPC3 | c.549C>A (p.Ser183=) | |
19 | g.3586951C>G | CA504967797 | GIPC3 | c.549C>G (p.Ser183=) | |
19 | g.3586951C>T | CA504967798 | GIPC3 | c.549C>T (p.Ser183=) | |
19 | g.3586951_3586952delinsAG | CA645611084 | GIPC3 | c.549_550delinsAG (p.Gln184Glu) | COSMIC |
19 | g.3586951_3586952insGCGCT | CA2554896225 | GIPC3 | c.549_550insGCGCT (p.Gln184AlafsTer18) | |
19 | g.3586952C>A | CA403362589 | GIPC3 | c.550C>A (p.Gln184Lys) | |
19 | g.3586952C>G | CA403362590 | GIPC3 | c.550C>G (p.Gln184Glu) | gnomAD v4 |
19 | g.3586952C>T | CA403362591 | GIPC3 | c.550C>T (p.Gln184Ter) | |
19 | g.3586953A>C | CA403362592 | GIPC3 | c.551A>C (p.Gln184Pro) | |
19 | g.3586953A>G | CA403362597 | GIPC3 | c.551A>G (p.Gln184Arg) | gnomAD v4 |
19 | g.3586953A>T | CA403362595 | GIPC3 | c.551A>T (p.Gln184Leu) | |
19 | g.3586954G>A | CA9080438 | GIPC3 | c.552G>A (p.Gln184=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3586954G>C | CA403362600 | GIPC3 | c.552G>C (p.Gln184His) | |
19 | g.3586954G= | CA2318941226 | GIPC3 | c.552G= (p.Gln184=) | |
19 | g.3586954G>T | CA403362602 | GIPC3 | c.552G>T (p.Gln184His) | |
19 | g.3586955C>A | CA403362606 | GIPC3 | c.553C>A (p.Pro185Thr) | dbSNP |
19 | g.3586955C= | CA2318941227 | GIPC3 | c.553C= (p.Pro185=) | |
19 | g.3586955C>G | CA403362608 | GIPC3 | c.553C>G (p.Pro185Ala) | |
19 | g.3586955C>T | CA403362610 | GIPC3 | c.553C>T (p.Pro185Ser) | |
19 | g.3586956_3586957del | CA2584489599 | GIPC3 | c.554_555del (p.Pro185LeufsTer?) | gnomAD v4 |
19 | g.3586956C>A | CA403362612 | GIPC3 | c.554C>A (p.Pro185His) | |
19 | g.3586956C= | CA2318941228 | GIPC3 | c.554C= (p.Pro185=) | |
19 | g.3586956C>G | CA403362616 | GIPC3 | c.554C>G (p.Pro185Arg) | |
19 | g.3586956C>T | CA403362619 | GIPC3 | c.554C>T (p.Pro185Leu) | dbSNP |
19 | g.3586957C>A | CA504967799 | GIPC3 | c.555C>A (p.Pro185=) | |
19 | g.3586957C= | CA2318941229 | GIPC3 | c.555C= (p.Pro185=) | |
19 | g.3586957C>G | CA504967800 | GIPC3 | c.555C>G (p.Pro185=) | |
19 | g.3586957C>T | CA504967801 | GIPC3 | c.555C>T (p.Pro185=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3586958T>A | CA403362621 | GIPC3 | c.556T>A (p.Phe186Ile) | |
19 | g.3586958T>C | CA403362627 | GIPC3 | c.556T>C (p.Phe186Leu) | |
19 | g.3586958T>G | CA403362630 | GIPC3 | c.556T>G (p.Phe186Val) | |
19 | g.3586959T>A | CA403362650 | GIPC3 | c.557T>A (p.Phe186Tyr) | |
19 | g.3586959T>C | CA403362647 | GIPC3 | c.557T>C (p.Phe186Ser) |