Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.49621855G>A | CA389619487 | MGAT2 | c.587G>A (p.Cys196Tyr) | |
14 | g.49621855G>C | CA389619488 | MGAT2 | c.587G>C (p.Cys196Ser) | |
14 | g.49621855G>T | CA389619489 | MGAT2 | c.587G>T (p.Cys196Phe) | |
14 | g.49621856T>A | CA389619490 | MGAT2 | c.588T>A (p.Cys196Ter) | |
14 | g.49621856T>C | CA486350285 | MGAT2 | c.588T>C (p.Cys196=) | |
14 | g.49621856T>G | CA389619491 | MGAT2 | c.588T>G (p.Cys196Trp) | |
14 | g.49621857C>A | CA389619493 | MGAT2 | c.589C>A (p.Pro197Thr) | |
14 | g.49621857C= | CA2135804706 | MGAT2 | c.589C= (p.Pro197=) | |
14 | g.49621857C>G | CA7172577 | MGAT2 | c.589C>G (p.Pro197Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621857C>T | CA389619492 | MGAT2 | c.589C>T (p.Pro197Ser) | |
14 | g.49621858C>A | CA389619494 | MGAT2 | c.590C>A (p.Pro197His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621858C= | CA2135804707 | MGAT2 | c.590C= (p.Pro197=) | |
14 | g.49621858C>G | CA389619495 | MGAT2 | c.590C>G (p.Pro197Arg) | dbSNP gnomAD v4 |
14 | g.49621858C>T | CA389619496 | MGAT2 | c.590C>T (p.Pro197Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621859C>A | CA486350288 | MGAT2 | c.591C>A (p.Pro197=) | |
14 | g.49621859C= | CA2135804708 | MGAT2 | c.591C= (p.Pro197=) | |
14 | g.49621859C>G | CA486350289 | MGAT2 | c.591C>G (p.Pro197=) | |
14 | g.49621859C>T | CA486350291 | MGAT2 | c.591C>T (p.Pro197=) | ClinVar dbSNP gnomAD v4 |
14 | g.49621860A= | CA2135804710 | MGAT2 | c.592A= (p.Arg198=) | |
14 | g.49621860A>C | CA486350295 | MGAT2 | c.592A>C (p.Arg198=) | |
14 | g.49621860A>G | CA389619497 | MGAT2 | c.592A>G (p.Arg198Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621860A>T | CA389619498 | MGAT2 | c.592A>T (p.Arg198Ter) | |
14 | g.49621863_49621864del | CA2575517489 | MGAT2 | c.595_596del (p.Asp199ProfsTer15) | gnomAD v4 |
14 | g.49621861G>A | CA389619499 | MGAT2 | c.593G>A (p.Arg198Lys) | |
14 | g.49621861G>C | CA389619501 | MGAT2 | c.593G>C (p.Arg198Thr) | |
14 | g.49621861G>T | CA389619500 | MGAT2 | c.593G>T (p.Arg198Ile) | |
14 | g.49621862A>C | CA389619502 | MGAT2 | c.594A>C (p.Arg198Ser) | |
14 | g.49621862A>G | CA486350298 | MGAT2 | c.594A>G (p.Arg198=) | |
14 | g.49621862A>T | CA389619503 | MGAT2 | c.594A>T (p.Arg198Ser) | |
14 | g.49621863G>A | CA389619504 | MGAT2 | c.595G>A (p.Asp199Asn) | |
14 | g.49621863G>C | CA389619505 | MGAT2 | c.595G>C (p.Asp199His) | |
14 | g.49621863G>T | CA389619506 | MGAT2 | c.595G>T (p.Asp199Tyr) | gnomAD v4 |
14 | g.49621864A= | CA2135804713 | MGAT2 | c.596A= (p.Asp199=) | |
14 | g.49621864A>C | CA389619507 | MGAT2 | c.596A>C (p.Asp199Ala) | dbSNP |
14 | g.49621864A>G | CA389619508 | MGAT2 | c.596A>G (p.Asp199Gly) | gnomAD v4 |
14 | g.49621864A>T | CA389619509 | MGAT2 | c.596A>T (p.Asp199Val) | |
14 | g.49621865C>A | CA7172578 | MGAT2 | c.597C>A (p.Asp199Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621865C= | CA2135804715 | MGAT2 | c.597C= (p.Asp199=) | |
14 | g.49621865C>G | CA389619510 | MGAT2 | c.597C>G (p.Asp199Glu) | |
14 | g.49621865C>T | CA486350304 | MGAT2 | c.597C>T (p.Asp199=) | dbSNP |
14 | g.49621866C>A | CA389619511 | MGAT2 | c.598C>A (p.Leu200Met) | |
14 | g.49621866C= | CA2135804717 | MGAT2 | c.598C= (p.Leu200=) | |
14 | g.49621866C>G | CA389619512 | MGAT2 | c.598C>G (p.Leu200Val) | |
14 | g.49621866C>T | CA486350308 | MGAT2 | c.598C>T (p.Leu200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621867T>A | CA389619515 | MGAT2 | c.599T>A (p.Leu200Gln) | |
14 | g.49621867T>C | CA389619514 | MGAT2 | c.599T>C (p.Leu200Pro) | gnomAD v4 |
14 | g.49621867T>G | CA389619513 | MGAT2 | c.599T>G (p.Leu200Arg) | |
14 | g.49621868G>A | CA7172579 | MGAT2 | c.600G>A (p.Leu200=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621868G>C | CA486350311 | MGAT2 | c.600G>C (p.Leu200=) | |
14 | g.49621868G= | CA2135804719 | MGAT2 | c.600G= (p.Leu200=) |