Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
9 | g.127824352_127824354delinsCTT | CA1879972561 | ENG | c.538_540delinsAAG (p.Lys180=) c.1084_1086delinsAAG (p.Lys362=) n.52_54delinsAAG | |
9 | g.127824355dup | CA2695211232 | ENG | c.539dup (p.Cys181ValfsTer?) c.1085dup (p.Cys363ValfsTer?) n.53dup | |
9 | g.127824355del | CA2695211233 | ENG | c.539del (p.Lys180SerfsTer7) c.1085del (p.Lys362SerfsTer7) n.53del | |
9 | g.127824354_127824355del | CA645372488 | ENG | c.538_539del (p.Lys180ValfsTer?) c.1084_1085del (p.Lys362ValfsTer?) n.52_53del | ClinVar dbSNP |
9 | g.127824354T>A | CA374980754 | ENG | c.538A>T (p.Lys180Ter) c.1084A>T (p.Lys362Ter) n.52A>T | |
9 | g.127824354T>C | CA374980755 | ENG | c.538A>G (p.Lys180Glu) c.1084A>G (p.Lys362Glu) n.52A>G | |
9 | g.127824354T>G | CA374980756 | ENG | c.538A>C (p.Lys180Gln) c.1084A>C (p.Lys362Gln) n.52A>C | |
9 | g.127824354_127824358delinsTTGTC | CA1879972573 | ENG | c.534_538delinsGACAA (p.Gln178=) c.1080_1084delinsGACAA (p.Gln360=) n.48_52delinsGACAA | |
9 | g.127824355T>A | CA467230619 | ENG | c.537A>T (p.Thr179=) c.1083A>T (p.Thr361=) n.51A>T | |
9 | g.127824355T>C | CA467230620 | ENG | c.537A>G (p.Thr179=) c.1083A>G (p.Thr361=) n.51A>G | gnomAD v4 |
9 | g.127824355T>G | CA5252889 | ENG | c.537A>C (p.Thr179=) c.1083A>C (p.Thr361=) n.51A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824355T= | CA1879972576 | ENG | c.537A= (p.Thr179=) c.1083A= (p.Thr361=) n.51A= | |
9 | g.127824357_127824360del | CA324999 | ENG | c.534_537del (p.Thr179SerfsTer7) c.1080_1083del (p.Thr361SerfsTer7) n.48_51del | ClinVar dbSNP gnomAD v4 |
9 | g.127824356G>A | CA374980759 | ENG | c.536C>T (p.Thr179Ile) c.1082C>T (p.Thr361Ile) n.50C>T | dbSNP gnomAD v4 |
9 | g.127824356G>C | CA374980758 | ENG | c.536C>G (p.Thr179Arg) c.1082C>G (p.Thr361Arg) n.50C>G | |
9 | g.127824356G= | CA1879972580 | ENG | c.536C= (p.Thr179=) c.1082C= (p.Thr361=) n.50C= | |
9 | g.127824356G>T | CA374980757 | ENG | c.536C>A (p.Thr179Lys) c.1082C>A (p.Thr361Lys) n.50C>A | |
9 | g.127824357T>A | CA374980760 | ENG | c.535A>T (p.Thr179Ser) c.1081A>T (p.Thr361Ser) n.49A>T | |
9 | g.127824357T>C | CA374980761 | ENG | c.535A>G (p.Thr179Ala) c.1081A>G (p.Thr361Ala) n.49A>G | |
9 | g.127824357T>G | CA374980762 | ENG | c.535A>C (p.Thr179Pro) c.1081A>C (p.Thr361Pro) n.49A>C | |
9 | g.127824358C>A | CA374980763 | ENG | c.534G>T (p.Gln178His) c.1080G>T (p.Gln360His) n.48G>T | |
9 | g.127824358C>G | CA374980764 | ENG | c.534G>C (p.Gln178His) c.1080G>C (p.Gln360His) n.48G>C | |
9 | g.127824358C>T | CA467230626 | ENG | c.534G>A (p.Gln178=) c.1080G>A (p.Gln360=) n.48G>A | |
9 | g.127824358_127824367dup | CA2580079624 | ENG | c.525_534dup (p.Thr179LeufsTer?) c.1071_1080dup (p.Thr361LeufsTer?) n.39_48dup | ClinVar |
9 | g.127824359T>A | CA374980765 | ENG | c.533A>T (p.Gln178Leu) c.1079A>T (p.Gln360Leu) n.47A>T | |
9 | g.127824359T>C | CA374980766 | ENG | c.533A>G (p.Gln178Arg) c.1079A>G (p.Gln360Arg) n.47A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824359T>G | CA374980767 | ENG | c.533A>C (p.Gln178Pro) c.1079A>C (p.Gln360Pro) n.47A>C | |
9 | g.127824359T= | CA1879972587 | ENG | c.533A= (p.Gln178=) c.1079A= (p.Gln360=) n.47A= | |
9 | g.127824360G>A | CA374980768 | ENG | c.532C>T (p.Gln178Ter) c.1078C>T (p.Gln360Ter) n.46C>T | ClinVar |
9 | g.127824360G>C | CA374980769 | ENG | c.532C>G (p.Gln178Glu) c.1078C>G (p.Gln360Glu) n.46C>G | |
9 | g.127824360G>T | CA374980770 | ENG | c.532C>A (p.Gln178Lys) c.1078C>A (p.Gln360Lys) n.46C>A | |
9 | g.127824361G>A | CA467230628 | ENG | c.531C>T (p.Ile177=) c.1077C>T (p.Ile359=) n.45C>T | |
9 | g.127824361G>C | CA374980771 | ENG | c.531C>G (p.Ile177Met) c.1077C>G (p.Ile359Met) n.45C>G | COSMIC COSMIC |
9 | g.127824361G= | CA1879972594 | ENG | c.531C= (p.Ile177=) c.1077C= (p.Ile359=) n.45C= | |
9 | g.127824361G>T | CA467230630 | ENG | c.531C>A (p.Ile177=) c.1077C>A (p.Ile359=) n.45C>A | ClinVar dbSNP gnomAD v4 |
9 | g.127824362A>C | CA374980773 | ENG | c.530T>G (p.Ile177Ser) c.1076T>G (p.Ile359Ser) n.44T>G | ClinVar |
9 | g.127824362A>G | CA374980774 | ENG | c.530T>C (p.Ile177Thr) c.1076T>C (p.Ile359Thr) n.44T>C | ClinVar |
9 | g.127824362A>T | CA374980772 | ENG | c.530T>A (p.Ile177Asn) c.1076T>A (p.Ile359Asn) n.44T>A | ClinVar dbSNP |
9 | g.127824362dup | CA2573143987 | ENG | c.530dup (p.Gln178ProfsTer?) c.1076dup (p.Gln360ProfsTer?) n.44dup | ClinVar dbSNP |
9 | g.127824363T>A | CA374980775 | ENG | c.529A>T (p.Ile177Phe) c.1075A>T (p.Ile359Phe) n.43A>T | |
9 | g.127824363T>C | CA374980776 | ENG | c.529A>G (p.Ile177Val) c.1075A>G (p.Ile359Val) n.43A>G | |
9 | g.127824363T>G | CA374980777 | ENG | c.529A>C (p.Ile177Leu) c.1075A>C (p.Ile359Leu) n.43A>C | |
9 | g.127824364C>A | CA374980778 | ENG | c.528G>T (p.Leu176Phe) c.1074G>T (p.Leu358Phe) n.42G>T | |
9 | g.127824364C>G | CA374980779 | ENG | c.528G>C (p.Leu176Phe) c.1074G>C (p.Leu358Phe) n.42G>C | |
9 | g.127824364C>T | CA467230633 | ENG | c.528G>A (p.Leu176=) c.1074G>A (p.Leu358=) n.42G>A | |
9 | g.127824365A>C | CA374980780 | ENG | c.527T>G (p.Leu176Trp) c.1073T>G (p.Leu358Trp) n.41T>G | |
9 | g.127824365A>G | CA374980781 | ENG | c.527T>C (p.Leu176Ser) c.1073T>C (p.Leu358Ser) n.41T>C | |
9 | g.127824365A>T | CA374980782 | ENG | c.527T>A (p.Leu176Ter) c.1073T>A (p.Leu358Ter) n.41T>A |