Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.49621891T>A | CA389619582 | MGAT2 | c.623T>A (p.Leu208Ter) | |
14 | g.49621891T>C | CA389619584 | MGAT2 | c.623T>C (p.Leu208Ser) | |
14 | g.49621891T>G | CA389619585 | MGAT2 | c.623T>G (p.Leu208Trp) | |
14 | g.49621891_49621893delinsTGG | CA2135804729 | MGAT2 | c.623_625delinsTGG (p.Leu208=) | |
14 | g.49621892G>A | CA486350348 | MGAT2 | c.624G>A (p.Leu208=) | |
14 | g.49621892G>C | CA389619586 | MGAT2 | c.624G>C (p.Leu208Phe) | |
14 | g.49621892G>T | CA389619588 | MGAT2 | c.624G>T (p.Leu208Phe) | |
14 | g.49621894_49621895del | CA706480752 | MGAT2 | c.626_627del (p.Gly209ValfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621893G>A | CA389619589 | MGAT2 | c.625G>A (p.Gly209Arg) | gnomAD v4 |
14 | g.49621893G>C | CA389619591 | MGAT2 | c.625G>C (p.Gly209Arg) | |
14 | g.49621893G= | CA2135804730 | MGAT2 | c.625G= (p.Gly209=) | |
14 | g.49621893G>T | CA389619593 | MGAT2 | c.625G>T (p.Gly209Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621894G>A | CA389619597 | MGAT2 | c.626G>A (p.Gly209Glu) | |
14 | g.49621894G>C | CA389619596 | MGAT2 | c.626G>C (p.Gly209Ala) | |
14 | g.49621894G>T | CA389619594 | MGAT2 | c.626G>T (p.Gly209Val) | gnomAD v4 |
14 | g.49621895G>A | CA486350354 | MGAT2 | c.627G>A (p.Gly209=) | gnomAD v4 |
14 | g.49621895G>C | CA486350355 | MGAT2 | c.627G>C (p.Gly209=) | |
14 | g.49621895G>T | CA486350353 | MGAT2 | c.627G>T (p.Gly209=) | |
14 | g.49621896T>A | CA389619599 | MGAT2 | c.628T>A (p.Cys210Ser) | |
14 | g.49621896T>C | CA389619600 | MGAT2 | c.628T>C (p.Cys210Arg) | |
14 | g.49621896T>G | CA389619601 | MGAT2 | c.628T>G (p.Cys210Gly) | |
14 | g.49621897G>A | CA389619603 | MGAT2 | c.629G>A (p.Cys210Tyr) | |
14 | g.49621897G>C | CA389619605 | MGAT2 | c.629G>C (p.Cys210Ser) | gnomAD v4 |
14 | g.49621897G>T | CA389619606 | MGAT2 | c.629G>T (p.Cys210Phe) | |
14 | g.49621898C>A | CA389619609 | MGAT2 | c.630C>A (p.Cys210Ter) | |
14 | g.49621898C= | CA2135804731 | MGAT2 | c.630C= (p.Cys210=) | |
14 | g.49621898C>G | CA389619612 | MGAT2 | c.630C>G (p.Cys210Trp) | |
14 | g.49621898C>T | CA486350358 | MGAT2 | c.630C>T (p.Cys210=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621899A= | CA2135804732 | MGAT2 | c.631A= (p.Ile211=) | |
14 | g.49621899A>C | CA389619613 | MGAT2 | c.631A>C (p.Ile211Leu) | |
14 | g.49621899A>G | CA389619617 | MGAT2 | c.631A>G (p.Ile211Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621899A>T | CA389619616 | MGAT2 | c.631A>T (p.Ile211Phe) | |
14 | g.49621900T>A | CA389619619 | MGAT2 | c.632T>A (p.Ile211Asn) | |
14 | g.49621900T>C | CA389619620 | MGAT2 | c.632T>C (p.Ile211Thr) | |
14 | g.49621900T>G | CA389619622 | MGAT2 | c.632T>G (p.Ile211Ser) | |
14 | g.49621901C>A | CA486350361 | MGAT2 | c.633C>A (p.Ile211=) | |
14 | g.49621901C>G | CA389619625 | MGAT2 | c.633C>G (p.Ile211Met) | gnomAD v4 |
14 | g.49621901C>T | CA486350360 | MGAT2 | c.633C>T (p.Ile211=) | gnomAD v4 COSMIC |
14 | g.49621902A>C | CA389619626 | MGAT2 | c.634A>C (p.Asn212His) | |
14 | g.49621902A>G | CA389619632 | MGAT2 | c.634A>G (p.Asn212Asp) | |
14 | g.49621902A>T | CA389619629 | MGAT2 | c.634A>T (p.Asn212Tyr) | |
14 | g.49621902_49621903insC | CA2570222421 | MGAT2 | c.634_635insC (p.Asn212ThrfsTer3) | |
14 | g.49621903A= | CA2135804733 | MGAT2 | c.635A= (p.Asn212=) | |
14 | g.49621903A>C | CA389619634 | MGAT2 | c.635A>C (p.Asn212Thr) | |
14 | g.49621903A>G | CA7172584 | MGAT2 | c.635A>G (p.Asn212Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.49621903A>T | CA389619636 | MGAT2 | c.635A>T (p.Asn212Ile) | gnomAD v4 |
14 | g.49621903_49621904insATGAAATGCCTGAACTGGCAGTAGTTTCTGATGATACCTTGATTGAAAAAGTAGTCAAAGCCCAAGATGACCGTCTCTTCTACGTATCAGAAGCTATTCGCCGTGGCTACACACCAGAAGAAAT | CA2563482155 | MGAT2 | c.635_636insATGAAATGCCTGAACTGGCAGTAGTTTCTGATGATACCTTGATTGAAAAAGTAGTCAAAGCCCAAGATGACCGTCTCTTCTACGTATCAGAAGCTATTCGCCGTGGCTACACACCAGAAGAAAT (p.Asn212LysfsTer2) | |
14 | g.49621904T>A | CA389619639 | MGAT2 | c.636T>A (p.Asn212Lys) | gnomAD v4 |
14 | g.49621904T>C | CA7172585 | MGAT2 | c.636T>C (p.Asn212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621904T>G | CA389619643 | MGAT2 | c.636T>G (p.Asn212Lys) |