Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42900892_42900895dup | CA2695226074 | G6PC1 | c.16_19dup (p.Val7GlufsTer5) n.81_84dup | |
17 | g.42900889A>C | CA399649692 | G6PC1 | c.13A>C (p.Met5Leu) n.78A>C | |
17 | g.42900889A>G | CA399649695 | G6PC1 | c.13A>G (p.Met5Val) n.78A>G | COSMIC |
17 | g.42900889A>T | CA399649701 | G6PC1 | c.13A>T (p.Met5Leu) n.78A>T | |
17 | g.42900890T>A | CA399649708 | G6PC1 | c.14T>A (p.Met5Lys) n.79T>A | ClinVar |
17 | g.42900890T>C | CA399649711 | G6PC1 | c.14T>C (p.Met5Thr) n.79T>C | |
17 | g.42900890T>G | CA399649725 | G6PC1 | c.14T>G (p.Met5Arg) n.79T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42900890T= | CA2260692834 | G6PC1 | c.14T= (p.Met5=) n.79T= | |
17 | g.42900891G>A | CA8587473 | G6PC1 | c.15G>A (p.Met5Ile) n.80G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42900891G>C | CA8587474 | G6PC1 | c.15G>C (p.Met5Ile) n.80G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42900891G= | CA2260692835 | G6PC1 | c.15G= (p.Met5=) n.80G= | |
17 | g.42900891G>T | CA399649733 | G6PC1 | c.15G>T (p.Met5Ile) n.80G>T | ClinVar dbSNP |
17 | g.42900892A>C | CA399649738 | G6PC1 | c.16A>C (p.Asn6His) n.81A>C | |
17 | g.42900892A>G | CA399649739 | G6PC1 | c.16A>G (p.Asn6Asp) n.81A>G | |
17 | g.42900892A>T | CA399649740 | G6PC1 | c.16A>T (p.Asn6Tyr) n.81A>T | |
17 | g.42900893A= | CA2260692836 | G6PC1 | c.17A= (p.Asn6=) n.82A= | |
17 | g.42900893A>C | CA399649763 | G6PC1 | c.17A>C (p.Asn6Thr) n.82A>C | gnomAD v4 |
17 | g.42900893A>G | CA8587475 | G6PC1 | c.17A>G (p.Asn6Ser) n.82A>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.42900893A>T | CA399649745 | G6PC1 | c.17A>T (p.Asn6Ile) n.82A>T | |
17 | g.42900894T>A | CA399649767 | G6PC1 | c.18T>A (p.Asn6Lys) n.83T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42900894T>C | CA8587476 | G6PC1 | c.18T>C (p.Asn6=) n.83T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42900894T>G | CA399649772 | G6PC1 | c.18T>G (p.Asn6Lys) n.83T>G | |
17 | g.42900894T= | CA2260692837 | G6PC1 | c.18T= (p.Asn6=) n.83T= | |
17 | g.42900895G>A | CA290783643 | G6PC1 | c.19G>A (p.Val7Ile) n.84G>A | dbSNP |
17 | g.42900895G>C | CA399649779 | G6PC1 | c.19G>C (p.Val7Leu) n.84G>C | |
17 | g.42900895G= | CA2260692838 | G6PC1 | c.19G= (p.Val7=) n.84G= | |
17 | g.42900895G>T | CA399649788 | G6PC1 | c.19G>T (p.Val7Phe) n.84G>T | |
17 | g.42900896T>A | CA399649792 | G6PC1 | c.20T>A (p.Val7Asp) n.85T>A | |
17 | g.42900896T>C | CA399649793 | G6PC1 | c.20T>C (p.Val7Ala) n.85T>C | |
17 | g.42900896T>G | CA399649798 | G6PC1 | c.20T>G (p.Val7Gly) n.85T>G | |
17 | g.42900897T>A | CA500229296 | G6PC1 | c.21T>A (p.Val7=) n.86T>A | |
17 | g.42900897T>C | CA500229297 | G6PC1 | c.21T>C (p.Val7=) n.86T>C | |
17 | g.42900897T>G | CA500229298 | G6PC1 | c.21T>G (p.Val7=) n.86T>G | |
17 | g.42900898C>A | CA399649802 | G6PC1 | c.22C>A (p.Leu8Ile) n.87C>A | gnomAD v4 |
17 | g.42900898C= | CA2260692839 | G6PC1 | c.22C= (p.Leu8=) n.87C= | |
17 | g.42900898C>G | CA399649810 | G6PC1 | c.22C>G (p.Leu8Val) n.87C>G | |
17 | g.42900898C>T | CA399649813 | G6PC1 | c.22C>T (p.Leu8Phe) n.87C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42900899T>A | CA399649818 | G6PC1 | c.23T>A (p.Leu8His) n.88T>A | |
17 | g.42900899T>C | CA399649819 | G6PC1 | c.23T>C (p.Leu8Pro) n.88T>C | gnomAD v4 |
17 | g.42900899T>G | CA399649817 | G6PC1 | c.23T>G (p.Leu8Arg) n.88T>G | |
17 | g.42900900C>A | CA500229299 | G6PC1 | c.24C>A (p.Leu8=) n.89C>A | |
17 | g.42900900C>G | CA500229301 | G6PC1 | c.24C>G (p.Leu8=) n.89C>G | |
17 | g.42900900C>T | CA500229300 | G6PC1 | c.24C>T (p.Leu8=) n.89C>T | gnomAD v4 |
17 | g.42900901C>A | CA399649820 | G6PC1 | c.25C>A (p.His9Asn) n.90C>A | |
17 | g.42900901C>G | CA399649823 | G6PC1 | c.25C>G (p.His9Asp) n.90C>G | |
17 | g.42900901C>T | CA399649827 | G6PC1 | c.25C>T (p.His9Tyr) n.90C>T | |
17 | g.42900902A= | CA2260692840 | G6PC1 | c.26A= (p.His9=) n.91A= | |
17 | g.42900902A>C | CA399649830 | G6PC1 | c.26A>C (p.His9Pro) n.91A>C | |
17 | g.42900902A>G | CA8587477 | G6PC1 | c.26A>G (p.His9Arg) n.91A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42900902A>T | CA399649853 | G6PC1 | c.26A>T (p.His9Leu) n.91A>T |