Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7293761_7293821del | CA2587927016 | INSR | c.79_100+39del n.54_75+39del | gnomAD v4 |
19 | g.7293770_7293869del | CA2587927037 | INSR | c.29_100+28del | gnomAD v4 |
19 | g.7293808del | CA2587927086 | INSR | c.85del (p.Leu29CysfsTer?) n.60del | gnomAD v4 |
19 | g.7293808G>A | CA505398105 | INSR | c.84C>T (p.His28=) n.59C>T | gnomAD v4 |
19 | g.7293808G>C | CA403162512 | INSR | c.84C>G (p.His28Gln) n.59C>G | gnomAD v4 |
19 | g.7293808G= | CA2320848614 | INSR | c.84C= (p.His28=) n.59C= | |
19 | g.7293808G>T | CA209132 | INSR | c.84C>A (p.His28Gln) n.59C>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.7293809T>A | CA403162513 | INSR | c.83A>T (p.His28Leu) n.58A>T | gnomAD v4 |
19 | g.7293809T>C | CA403162515 | INSR | c.83A>G (p.His28Arg) n.58A>G | gnomAD v4 |
19 | g.7293809T>G | CA403162514 | INSR | c.83A>C (p.His28Pro) n.58A>C | gnomAD v4 |
19 | g.7293819_7293945del | CA993149625 | INSR | c.-44_83del | gnomAD v3 gnomAD v4 |
19 | g.7293810G>A | CA403162516 | INSR | c.82C>T (p.His28Tyr) n.57C>T | gnomAD v4 |
19 | g.7293810G>C | CA403162517 | INSR | c.82C>G (p.His28Asp) n.57C>G | |
19 | g.7293810G>T | CA403162518 | INSR | c.82C>A (p.His28Asn) n.57C>A | gnomAD v4 |
19 | g.7293811G>A | CA505398108 | INSR | c.81C>T (p.Gly27=) n.56C>T | gnomAD v4 |
19 | g.7293811G>C | CA505398106 | INSR | c.81C>G (p.Gly27=) n.56C>G | gnomAD v4 |
19 | g.7293811G>T | CA505398107 | INSR | c.81C>A (p.Gly27=) n.56C>A | gnomAD v4 |
19 | g.7293812C>A | CA403162519 | INSR | c.80G>T (p.Gly27Val) n.55G>T | gnomAD v4 |
19 | g.7293812C>G | CA403162520 | INSR | c.80G>C (p.Gly27Ala) n.55G>C | gnomAD v4 |
19 | g.7293812C>T | CA403162521 | INSR | c.80G>A (p.Gly27Asp) n.55G>A | gnomAD v4 |
19 | g.7293814del | CA2587927087 | INSR | c.80del (p.Gly27AlafsTer?) n.55del | gnomAD v4 |
19 | g.7293813C>A | CA403162522 | INSR | c.79G>T (p.Gly27Cys) n.54G>T | gnomAD v4 |
19 | g.7293813C= | CA2320848615 | INSR | c.79G= (p.Gly27=) n.54G= | |
19 | g.7293813C>G | CA403162523 | INSR | c.79G>C (p.Gly27Arg) n.54G>C | gnomAD v4 |
19 | g.7293813C>T | CA403162524 | INSR | c.79G>A (p.Gly27Ser) n.54G>A | dbSNP gnomAD v4 |
19 | g.7293814C>A | CA505398110 | INSR | c.78G>T (p.Ala26=) n.53G>T | gnomAD v4 |
19 | g.7293814C= | CA2320848616 | INSR | c.78G= (p.Ala26=) n.53G= | |
19 | g.7293814C>G | CA505398109 | INSR | c.78G>C (p.Ala26=) n.53G>C | gnomAD v4 |
19 | g.7293814C>T | CA9136187 | INSR | c.78G>A (p.Ala26=) n.53G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7293815G>A | CA403162527 | INSR | c.77C>T (p.Ala26Val) n.52C>T | gnomAD v4 |
19 | g.7293815G>C | CA403162526 | INSR | c.77C>G (p.Ala26Gly) n.52C>G | |
19 | g.7293815G= | CA2320848617 | INSR | c.77C= (p.Ala26=) n.52C= | |
19 | g.7293815G>T | CA403162525 | INSR | c.77C>A (p.Ala26Glu) n.52C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7293816del | CA2587927088 | INSR | c.76del (p.Ala26ArgfsTer?) n.51del | gnomAD v4 |
19 | g.7293816C>A | CA403162528 | INSR | c.76G>T (p.Ala26Ser) n.51G>T | gnomAD v4 |
19 | g.7293816C= | CA2320848618 | INSR | c.76G= (p.Ala26=) n.51G= | |
19 | g.7293816C>G | CA403162529 | INSR | c.76G>C (p.Ala26Pro) n.51G>C | |
19 | g.7293816C>T | CA9136188 | INSR | c.76G>A (p.Ala26Thr) n.51G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7293817G>A | CA505398113 | INSR | c.75C>T (p.Ala25=) n.50C>T | dbSNP gnomAD v4 |
19 | g.7293817G>C | CA505398111 | INSR | c.75C>G (p.Ala25=) n.50C>G | dbSNP gnomAD v4 |
19 | g.7293817G= | CA2320848619 | INSR | c.75C= (p.Ala25=) n.50C= | |
19 | g.7293817G>T | CA505398112 | INSR | c.75C>A (p.Ala25=) n.50C>A | gnomAD v4 |
19 | g.7293818G>A | CA403162530 | INSR | c.74C>T (p.Ala25Val) n.49C>T | gnomAD v4 |
19 | g.7293818G>C | CA403162531 | INSR | c.74C>G (p.Ala25Gly) n.49C>G | gnomAD v4 |
19 | g.7293818G>T | CA403162532 | INSR | c.74C>A (p.Ala25Asp) n.49C>A | gnomAD v4 |
19 | g.7293819C>A | CA403162533 | INSR | c.73G>T (p.Ala25Ser) n.48G>T | gnomAD v4 |
19 | g.7293819C>G | CA403162534 | INSR | c.73G>C (p.Ala25Pro) n.48G>C | gnomAD v4 |
19 | g.7293819C>T | CA403162535 | INSR | c.73G>A (p.Ala25Thr) n.48G>A | gnomAD v4 |
19 | g.7293820G>A | CA505398116 | INSR | c.72C>T (p.Gly24=) n.47C>T | gnomAD v4 |
19 | g.7293820G>C | CA505398115 | INSR | c.72C>G (p.Gly24=) n.47C>G | gnomAD v4 |