Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.24777281_24777284del | CA250415 | GMNN | c.35_38del (p.Ile12LysfsTer4) n.224_227del | ClinVar dbSNP |
6 | g.24777281T>A | CA362987752 | GMNN | c.35T>A (p.Ile12Asn) n.224T>A | gnomAD v4 |
6 | g.24777281T>C | CA362987755 | GMNN | c.35T>C (p.Ile12Thr) n.224T>C | gnomAD v4 |
6 | g.24777281T>G | CA362987758 | GMNN | c.35T>G (p.Ile12Ser) n.224T>G | |
6 | g.24777282C>A | CA448973219 | GMNN | c.36C>A (p.Ile12=) n.225C>A | gnomAD v4 |
6 | g.24777282C>G | CA362987760 | GMNN | c.36C>G (p.Ile12Met) n.225C>G | gnomAD v4 |
6 | g.24777282C>T | CA448973218 | GMNN | c.36C>T (p.Ile12=) n.225C>T | gnomAD v4 |
6 | g.24777283A>C | CA362987770 | GMNN | c.37A>C (p.Lys13Gln) n.226A>C | |
6 | g.24777283A>G | CA362987768 | GMNN | c.37A>G (p.Lys13Glu) n.226A>G | gnomAD v4 |
6 | g.24777283A>T | CA362987763 | GMNN | c.37A>T (p.Lys13Ter) n.226A>T | gnomAD v4 |
6 | g.24777285del | CA2677549582 | GMNN | c.39del (p.Glu14ArgfsTer3) n.228del | gnomAD v4 |
6 | g.24777284A>C | CA362987773 | GMNN | c.38A>C (p.Lys13Thr) n.227A>C | |
6 | g.24777284A>G | CA362987776 | GMNN | c.38A>G (p.Lys13Arg) n.227A>G | gnomAD v4 |
6 | g.24777284A>T | CA362987777 | GMNN | c.38A>T (p.Lys13Ile) n.227A>T | |
6 | g.24777285A>C | CA362987781 | GMNN | c.39A>C (p.Lys13Asn) n.228A>C | |
6 | g.24777285A>G | CA448973225 | GMNN | c.39A>G (p.Lys13=) n.228A>G | gnomAD v4 |
6 | g.24777285A>T | CA362987783 | GMNN | c.39A>T (p.Lys13Asn) n.228A>T | gnomAD v4 |
6 | g.24777286G>A | CA362987791 | GMNN | c.40G>A (p.Glu14Lys) n.229G>A | gnomAD v4 |
6 | g.24777286G>C | CA136174846 | GMNN | c.40G>C (p.Glu14Gln) n.229G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24777286G>T | CA362987794 | GMNN | c.40G>T (p.Glu14Ter) n.229G>T | gnomAD v4 |
6 | g.24777286_24777288del | CA2677549583 | GMNN | c.40_42del (p.Glu14del) n.229_231del | gnomAD v4 |
6 | g.24777287A>C | CA362987796 | GMNN | c.41A>C (p.Glu14Ala) n.230A>C | gnomAD v4 |
6 | g.24777287A>G | CA362987798 | GMNN | c.41A>G (p.Glu14Gly) n.230A>G | gnomAD v4 |
6 | g.24777287A>T | CA362987801 | GMNN | c.41A>T (p.Glu14Val) n.230A>T | gnomAD v4 |
6 | g.24777288G>A | CA448973228 | GMNN | c.42G>A (p.Glu14=) n.231G>A | gnomAD v4 |
6 | g.24777288G>C | CA362987803 | GMNN | c.42G>C (p.Glu14Asp) n.231G>C | gnomAD v4 |
6 | g.24777288G>T | CA362987805 | GMNN | c.42G>T (p.Glu14Asp) n.231G>T | gnomAD v4 COSMIC |
6 | g.24777289A>C | CA3658781 | GMNN | c.43A>C (p.Asn15His) n.232A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.24777289A>G | CA362987810 | GMNN | c.43A>G (p.Asn15Asp) n.232A>G | gnomAD v4 |
6 | g.24777289A>T | CA362987807 | GMNN | c.43A>T (p.Asn15Tyr) n.232A>T | |
6 | g.24777290dup | CA2677549584 | GMNN | c.44dup (p.Asn15LysfsTer5) n.233dup | gnomAD v4 |
6 | g.24777290A>C | CA362987813 | GMNN | c.44A>C (p.Asn15Thr) n.233A>C | |
6 | g.24777290A>G | CA3658782 | GMNN | c.44A>G (p.Asn15Ser) n.233A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.24777290A>T | CA362987817 | GMNN | c.44A>T (p.Asn15Ile) n.233A>T | gnomAD v4 |
6 | g.24777291T>A | CA362987821 | GMNN | c.45T>A (p.Asn15Lys) n.234T>A | gnomAD v4 |
6 | g.24777291T>C | CA448973231 | GMNN | c.45T>C (p.Asn15=) n.234T>C | gnomAD v4 |
6 | g.24777291T>G | CA362987822 | GMNN | c.45T>G (p.Asn15Lys) n.234T>G | |
6 | g.24777292A>C | CA362987825 | GMNN | c.46A>C (p.Ile16Leu) n.235A>C | |
6 | g.24777292A>G | CA362987827 | GMNN | c.46A>G (p.Ile16Val) n.235A>G | gnomAD v4 |
6 | g.24777292A>T | CA362987829 | GMNN | c.46A>T (p.Ile16Leu) n.235A>T | gnomAD v4 |
6 | g.24777293T>A | CA362987836 | GMNN | c.47T>A (p.Ile16Lys) n.236T>A | gnomAD v4 |
6 | g.24777293T>C | CA362987840 | GMNN | c.47T>C (p.Ile16Thr) n.236T>C | gnomAD v4 |
6 | g.24777293T>G | CA362987838 | GMNN | c.47T>G (p.Ile16Arg) n.236T>G | |
6 | g.24777294A>C | CA448973234 | GMNN | c.48A>C (p.Ile16=) n.237A>C | |
6 | g.24777294A>G | CA362987842 | GMNN | c.48A>G (p.Ile16Met) n.237A>G | gnomAD v4 |
6 | g.24777294A>T | CA448973235 | GMNN | c.48A>T (p.Ile16=) n.237A>T | |
6 | g.24777296del | CA2578544690 | GMNN | c.50del (p.Lys17ArgfsTer10) n.239del | gnomAD v4 |
6 | g.24777295A>C | CA362987845 | GMNN | c.49A>C (p.Lys17Gln) n.238A>C | |
6 | g.24777295A>G | CA362987846 | GMNN | c.49A>G (p.Lys17Glu) n.238A>G | gnomAD v4 |
6 | g.24777295A>T | CA362987849 | GMNN | c.49A>T (p.Lys17Ter) n.238A>T | gnomAD v4 |