Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.49621863_49621864del | CA2575517489 | MGAT2 | c.595_596del (p.Asp199ProfsTer15) | 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=) | |
14 | g.49621868G>T | CA486350313 | MGAT2 | c.600G>T (p.Leu200=) | |
14 | g.49621869C>A | CA389619516 | MGAT2 | c.601C>A (p.Pro201Thr) | |
14 | g.49621869C>G | CA389619518 | MGAT2 | c.601C>G (p.Pro201Ala) | |
14 | g.49621869C>T | CA389619517 | MGAT2 | c.601C>T (p.Pro201Ser) | |
14 | g.49621870C>A | CA389619519 | MGAT2 | c.602C>A (p.Pro201Gln) | |
14 | g.49621870C= | CA2135804721 | MGAT2 | c.602C= (p.Pro201=) | |
14 | g.49621870C>G | CA389619520 | MGAT2 | c.602C>G (p.Pro201Arg) | gnomAD v4 |
14 | g.49621870C>T | CA7172580 | MGAT2 | c.602C>T (p.Pro201Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621871G>A | CA486350317 | MGAT2 | c.603G>A (p.Pro201=) | gnomAD v4 |
14 | g.49621871G>C | CA486350319 | MGAT2 | c.603G>C (p.Pro201=) | |
14 | g.49621871G>T | CA486350320 | MGAT2 | c.603G>T (p.Pro201=) | |
14 | g.49621872A= | CA2135804722 | MGAT2 | c.604A= (p.Lys202=) | |
14 | g.49621872A>C | CA389619521 | MGAT2 | c.604A>C (p.Lys202Gln) | |
14 | g.49621872A>G | CA7172581 | MGAT2 | c.604A>G (p.Lys202Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621872A>T | CA389619522 | MGAT2 | c.604A>T (p.Lys202Ter) | |
14 | g.49621873A>C | CA389619523 | MGAT2 | c.605A>C (p.Lys202Thr) | |
14 | g.49621873A>G | CA389619524 | MGAT2 | c.605A>G (p.Lys202Arg) | |
14 | g.49621873A>T | CA389619525 | MGAT2 | c.605A>T (p.Lys202Met) | |
14 | g.49621874G>A | CA486350325 | MGAT2 | c.606G>A (p.Lys202=) | gnomAD v4 |
14 | g.49621874G>C | CA389619526 | MGAT2 | c.606G>C (p.Lys202Asn) | |
14 | g.49621874G>T | CA389619527 | MGAT2 | c.606G>T (p.Lys202Asn) | gnomAD v4 |
14 | g.49621875A>C | CA389619530 | MGAT2 | c.607A>C (p.Asn203His) | |
14 | g.49621875A>G | CA389619529 | MGAT2 | c.607A>G (p.Asn203Asp) | |
14 | g.49621875A>T | CA389619528 | MGAT2 | c.607A>T (p.Asn203Tyr) | |
14 | g.49621876A>C | CA389619531 | MGAT2 | c.608A>C (p.Asn203Thr) | |
14 | g.49621876A>G | CA389619532 | MGAT2 | c.608A>G (p.Asn203Ser) | |
14 | g.49621876A>T | CA389619533 | MGAT2 | c.608A>T (p.Asn203Ile) | |
14 | g.49621877T>A | CA389619535 | MGAT2 | c.609T>A (p.Asn203Lys) | |
14 | g.49621877T>C | CA7172582 | MGAT2 | c.609T>C (p.Asn203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621877T>G | CA389619537 | MGAT2 | c.609T>G (p.Asn203Lys) | |
14 | g.49621877T= | CA2135804723 | MGAT2 | c.609T= (p.Asn203=) |