Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.127339214C>A | CA446422701 | MEGF10 | c.211C>A (p.Arg71=) c.376C>A (p.Arg126=) | gnomAD v4 |
5 | g.127339214C= | CA1580813933 | MEGF10 | c.211C= (p.Arg71=) c.376C= (p.Arg126=) | |
5 | g.127339214C>G | CA360822442 | MEGF10 | c.211C>G (p.Arg71Gly) c.376C>G (p.Arg126Gly) | |
5 | g.127339214C>T | CA129576 | MEGF10 | c.211C>T (p.Arg71Trp) c.376C>T (p.Arg126Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127339215G>A | CA10618915 | MEGF10 | c.212G>A (p.Arg71Gln) c.377G>A (p.Arg126Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127339215G>C | CA360822443 | MEGF10 | c.212G>C (p.Arg71Pro) c.377G>C (p.Arg126Pro) | |
5 | g.127339215G= | CA1580813934 | MEGF10 | c.212G= (p.Arg71=) c.377G= (p.Arg126=) | |
5 | g.127339215G>T | CA360822444 | MEGF10 | c.212G>T (p.Arg71Leu) c.377G>T (p.Arg126Leu) | |
5 | g.127339216G>A | CA3391194 | MEGF10 | c.213G>A (p.Arg71=) c.378G>A (p.Arg126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339216G>C | CA446422716 | MEGF10 | c.213G>C (p.Arg71=) c.378G>C (p.Arg126=) | |
5 | g.127339216G= | CA1580813935 | MEGF10 | c.213G= (p.Arg71=) c.378G= (p.Arg126=) | |
5 | g.127339216G>T | CA446422718 | MEGF10 | c.213G>T (p.Arg71=) c.378G>T (p.Arg126=) | |
5 | g.127339217C>A | CA360822445 | MEGF10 | c.214C>A (p.His72Asn) c.379C>A (p.His127Asn) | |
5 | g.127339217C>G | CA360822446 | MEGF10 | c.214C>G (p.His72Asp) c.379C>G (p.His127Asp) | |
5 | g.127339217C>T | CA360822447 | MEGF10 | c.214C>T (p.His72Tyr) c.379C>T (p.His127Tyr) | |
5 | g.127339218A>C | CA360822448 | MEGF10 | c.215A>C (p.His72Pro) c.380A>C (p.His127Pro) | |
5 | g.127339218A>G | CA360822449 | MEGF10 | c.215A>G (p.His72Arg) c.380A>G (p.His127Arg) | |
5 | g.127339218A>T | CA360822450 | MEGF10 | c.215A>T (p.His72Leu) c.380A>T (p.His127Leu) | |
5 | g.127339219C>A | CA360822452 | MEGF10 | c.216C>A (p.His72Gln) c.381C>A (p.His127Gln) | gnomAD v4 |
5 | g.127339219C= | CA1580813936 | MEGF10 | c.216C= (p.His72=) c.381C= (p.His127=) | |
5 | g.127339219C>G | CA360822451 | MEGF10 | c.216C>G (p.His72Gln) c.381C>G (p.His127Gln) | |
5 | g.127339219C>T | CA446422724 | MEGF10 | c.216C>T (p.His72=) c.381C>T (p.His127=) | |
5 | g.127339220A>C | CA446422727 | MEGF10 | c.217A>C (p.Arg73=) c.382A>C (p.Arg128=) | |
5 | g.127339220A>G | CA360822453 | MEGF10 | c.217A>G (p.Arg73Gly) c.382A>G (p.Arg128Gly) | gnomAD v4 |
5 | g.127339220A>T | CA360822454 | MEGF10 | c.217A>T (p.Arg73Ter) c.382A>T (p.Arg128Ter) | |
5 | g.127339220dup | CA16618104 | MEGF10 | c.217dup (p.Arg73LysfsTer17) c.382dup (p.Arg128LysfsTer17) | ClinVar dbSNP gnomAD v4 |
5 | g.127339221G>A | CA360822455 | MEGF10 | c.218G>A (p.Arg73Lys) c.383G>A (p.Arg128Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339221G>C | CA360822456 | MEGF10 | c.218G>C (p.Arg73Thr) c.383G>C (p.Arg128Thr) | |
5 | g.127339221G= | CA1580813937 | MEGF10 | c.218G= (p.Arg73=) c.383G= (p.Arg128=) | |
5 | g.127339221G>T | CA360822457 | MEGF10 | c.218G>T (p.Arg73Ile) c.383G>T (p.Arg128Ile) | |
5 | g.127339222G>A | CA360822458 | MEGF10 | c.218+1G>A (n.218+1G>A) c.383+1G>A (n.383+1G>A) | |
5 | g.127339222G>C | CA360822459 | MEGF10 | c.218+1G>C (n.218+1G>C) c.383+1G>C (n.383+1G>C) | |
5 | g.127339222G>T | CA360822460 | MEGF10 | c.218+1G>T (n.218+1G>T) c.383+1G>T (n.383+1G>T) | |
5 | g.127339223T>A | CA360822461 | MEGF10 | c.218+2T>A (n.218+2T>A) c.383+2T>A (n.383+2T>A) | gnomAD v4 |
5 | g.127339223T>C | CA360822462 | MEGF10 | c.218+2T>C (n.218+2T>C) c.383+2T>C (n.383+2T>C) | |
5 | g.127339223T>G | CA360822463 | MEGF10 | c.218+2T>G (n.218+2T>G) c.383+2T>G (n.383+2T>G) | |
5 | g.127339225A= | CA1580813938 | MEGF10 | c.218+4A= (n.218+4A=) c.383+4A= (n.383+4A=) | |
5 | g.127339225A>G | CA562866129 | MEGF10 | c.218+4A>G (n.218+4A>G) c.383+4A>G (n.383+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339226T>C | CA3391195 | MEGF10 | c.218+5T>C (n.218+5T>C) c.383+5T>C (n.383+5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127339226T= | CA1580813939 | MEGF10 | c.218+5T= (n.218+5T=) c.383+5T= (n.383+5T=) | |
5 | g.127339229A= | CA1580813940 | MEGF10 | c.218+8A= (n.218+8A=) c.383+8A= (n.383+8A=) | |
5 | g.127339229A>C | CA803539604 | MEGF10 | c.218+8A>C (n.218+8A>C) c.383+8A>C (n.383+8A>C) | ClinVar dbSNP |
5 | g.127339231G>A | CA1580813942 | MEGF10 | c.218+10G>A (n.218+10G>A) c.383+10G>A (n.383+10G>A) | dbSNP gnomAD v4 |
5 | g.127339231G= | CA1580813941 | MEGF10 | c.218+10G= (n.218+10G=) c.383+10G= (n.383+10G=) | |
5 | g.127339232C>A | CA2675086711 | MEGF10 | c.218+11C>A (n.218+11C>A) c.383+11C>A (n.383+11C>A) | gnomAD v4 |
5 | g.127339232C>T | CA2580072526 | MEGF10 | c.218+11C>T (n.218+11C>T) c.383+11C>T (n.383+11C>T) | ClinVar gnomAD v4 |
5 | g.127339235A>C | CA2578393730 | MEGF10 | c.218+14A>C (n.218+14A>C) c.383+14A>C (n.383+14A>C) | gnomAD v4 |
5 | g.127339235A>G | CA2675086712 | MEGF10 | c.218+14A>G (n.218+14A>G) c.383+14A>G (n.383+14A>G) | gnomAD v4 |
5 | g.127339236G>C | CA650265868 | MEGF10 | c.218+15G>C (n.218+15G>C) c.383+15G>C (n.383+15G>C) | gnomAD v4 COSMIC COSMIC |
5 | g.127339237G>A | CA2675086713 | MEGF10 | c.218+16G>A (n.218+16G>A) c.383+16G>A (n.383+16G>A) | ClinVar gnomAD v4 |