Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.49457923A= | CA1627395325 | MMUT | c.521T= (p.Phe174=) | |
6 | g.49457923A>C | CA364404551 | MMUT | c.521T>G (p.Phe174Cys) | |
6 | g.49457923A>G | CA347890 | MMUT | c.521T>C (p.Phe174Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457923A>T | CA364404552 | MMUT | c.521T>A (p.Phe174Tyr) | |
6 | g.49457924A>C | CA364404553 | MMUT | c.520T>G (p.Phe174Val) | |
6 | g.49457924A>G | CA364404554 | MMUT | c.520T>C (p.Phe174Leu) | |
6 | g.49457924A>T | CA364404555 | MMUT | c.520T>A (p.Phe174Ile) | |
6 | g.49457925A>C | CA450608617 | MMUT | c.519T>G (p.Leu173=) | |
6 | g.49457925A>G | CA450608618 | MMUT | c.519T>C (p.Leu173=) | |
6 | g.49457925A>T | CA450608619 | MMUT | c.519T>A (p.Leu173=) | |
6 | g.49457926A>C | CA364404556 | MMUT | c.518T>G (p.Leu173Arg) | |
6 | g.49457926A>G | CA364404557 | MMUT | c.518T>C (p.Leu173Pro) | |
6 | g.49457926A>T | CA364404558 | MMUT | c.518T>A (p.Leu173His) | |
6 | g.49457927G>A | CA364404561 | MMUT | c.517C>T (p.Leu173Phe) | dbSNP |
6 | g.49457927G>C | CA364404560 | MMUT | c.517C>G (p.Leu173Val) | |
6 | g.49457927G>T | CA364404559 | MMUT | c.517C>A (p.Leu173Ile) | |
6 | g.49457928A>C | CA364404562 | MMUT | c.516T>G (p.Ile172Met) | |
6 | g.49457928A>G | CA450608620 | MMUT | c.516T>C (p.Ile172=) | |
6 | g.49457928A>T | CA450608621 | MMUT | c.516T>A (p.Ile172=) | |
6 | g.49457929A>C | CA364404565 | MMUT | c.515T>G (p.Ile172Ser) | |
6 | g.49457929A>G | CA364404563 | MMUT | c.515T>C (p.Ile172Thr) | |
6 | g.49457929A>T | CA364404564 | MMUT | c.515T>A (p.Ile172Asn) | |
6 | g.49457929_49457930delinsAT | CA1627395329 | MMUT | c.514_515delinsAT (p.Ile172=) | |
6 | g.49457930T>A | CA364404566 | MMUT | c.514A>T (p.Ile172Phe) | |
6 | g.49457930T>C | CA364404567 | MMUT | c.514A>G (p.Ile172Val) | |
6 | g.49457930T>G | CA364404568 | MMUT | c.514A>C (p.Ile172Leu) | |
6 | g.49457933del | CA450608622 | MMUT | c.514del (p.Ile172PhefsTer8) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.49457931T>A | CA364404569 | MMUT | c.513A>T (p.Lys171Asn) | |
6 | g.49457931T>C | CA450608623 | MMUT | c.513A>G (p.Lys171=) | |
6 | g.49457931T>G | CA138799908 | MMUT | c.513A>C (p.Lys171Asn) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457931T= | CA1627395340 | MMUT | c.513A= (p.Lys171=) | |
6 | g.49457932T>A | CA364404570 | MMUT | c.512A>T (p.Lys171Ile) | |
6 | g.49457932T>C | CA364404572 | MMUT | c.512A>G (p.Lys171Arg) | |
6 | g.49457932T>G | CA364404571 | MMUT | c.512A>C (p.Lys171Thr) | |
6 | g.49457933T>A | CA364404573 | MMUT | c.511A>T (p.Lys171Ter) | ClinVar |
6 | g.49457933T>C | CA364404574 | MMUT | c.511A>G (p.Lys171Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457933T>G | CA364404575 | MMUT | c.511A>C (p.Lys171Gln) | |
6 | g.49457933T= | CA1627395343 | MMUT | c.511A= (p.Lys171=) | |
6 | g.49457934G>A | CA450608624 | MMUT | c.510C>T (p.Thr170=) | gnomAD v4 |
6 | g.49457934G>C | CA3847099 | MMUT | c.510C>G (p.Thr170=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457934G= | CA1627395347 | MMUT | c.510C= (p.Thr170=) | |
6 | g.49457934G>T | CA450608625 | MMUT | c.510C>A (p.Thr170=) | |
6 | g.49457935G>A | CA364404576 | MMUT | c.509C>T (p.Thr170Ile) | ClinVar |
6 | g.49457935G>C | CA364404578 | MMUT | c.509C>G (p.Thr170Ser) | ClinVar dbSNP gnomAD v4 |
6 | g.49457935G>T | CA364404577 | MMUT | c.509C>A (p.Thr170Asn) | gnomAD v4 |
6 | g.49457936T>A | CA364404579 | MMUT | c.508A>T (p.Thr170Ser) | gnomAD v4 |
6 | g.49457936T>C | CA364404580 | MMUT | c.508A>G (p.Thr170Ala) | |
6 | g.49457936T>G | CA364404581 | MMUT | c.508A>C (p.Thr170Pro) | |
6 | g.49457937A= | CA1627395349 | MMUT | c.507T= (p.Asp169=) | |
6 | g.49457937A>C | CA364404582 | MMUT | c.507T>G (p.Asp169Glu) |