| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.149486911A= | CA2465005534 | IDS | c.1180+14T= (n.1180+14T=) c.547+14T= (n.547+14T=) n.287+14T= c.910+14T= (n.910+14T=) | |
| X | g.149486911A>G | CA645070958 | IDS | c.1180+14T>C (n.1180+14T>C) c.547+14T>C (n.547+14T>C) n.287+14T>C c.910+14T>C (n.910+14T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.149486912G>T | CA2579719140 | IDS | c.1180+13C>A (n.1180+13C>A) c.547+13C>A (n.547+13C>A) n.287+13C>A c.910+13C>A (n.910+13C>A) | gnomAD v4 |
| X | g.149486914A>C | CA2694909075 | IDS | c.1180+11T>G (n.1180+11T>G) c.547+11T>G (n.547+11T>G) n.287+11T>G c.910+11T>G (n.910+11T>G) | gnomAD v4 |
| X | g.149486915T>C | CA872890581 | IDS | c.1180+10A>G (n.1180+10A>G) c.547+10A>G (n.547+10A>G) n.287+10A>G c.910+10A>G (n.910+10A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149486915T= | CA2465005535 | IDS | c.1180+10A= (n.1180+10A=) c.547+10A= (n.547+10A=) n.287+10A= c.910+10A= (n.910+10A=) | |
| X | g.149486918T>G | CA1138319303 | IDS | c.1180+7A>C (n.1180+7A>C) c.547+7A>C (n.547+7A>C) n.287+7A>C c.910+7A>C (n.910+7A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149486918T= | CA2465005536 | IDS | c.1180+7A= (n.1180+7A=) c.547+7A= (n.547+7A=) n.287+7A= c.910+7A= (n.910+7A=) | |
| X | g.149486921A= | CA2465005537 | IDS | c.1180+4T= (n.1180+4T=) c.547+4T= (n.547+4T=) n.287+4T= c.910+4T= (n.910+4T=) | |
| X | g.149486921A>G | CA645070959 | IDS | c.1180+4T>C (n.1180+4T>C) c.547+4T>C (n.547+4T>C) n.287+4T>C c.910+4T>C (n.910+4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149486922T>C | CA337035857 | IDS | c.1180+3A>G (n.1180+3A>G) c.547+3A>G (n.547+3A>G) n.287+3A>G c.910+3A>G (n.910+3A>G) | dbSNP gnomAD v4 |
| X | g.149486922T= | CA2465005538 | IDS | c.1180+3A= (n.1180+3A=) c.547+3A= (n.547+3A=) n.287+3A= c.910+3A= (n.910+3A=) | |
| X | g.149486923A>C | CA414518655 | IDS | c.1180+2T>G (n.1180+2T>G) c.547+2T>G (n.547+2T>G) n.287+2T>G c.910+2T>G (n.910+2T>G) | |
| X | g.149486923A>G | CA414518656 | IDS | c.1180+2T>C (n.1180+2T>C) c.547+2T>C (n.547+2T>C) n.287+2T>C c.910+2T>C (n.910+2T>C) | |
| X | g.149486923A>T | CA414518657 | IDS | c.1180+2T>A (n.1180+2T>A) c.547+2T>A (n.547+2T>A) n.287+2T>A c.910+2T>A (n.910+2T>A) | |
| X | g.149486924C>A | CA414518658 | IDS | c.1180+1G>T (n.1180+1G>T) c.547+1G>T (n.547+1G>T) n.287+1G>T c.910+1G>T (n.910+1G>T) | |
| X | g.149486924C>G | CA414518659 | IDS | c.1180+1G>C (n.1180+1G>C) c.547+1G>C (n.547+1G>C) n.287+1G>C c.910+1G>C (n.910+1G>C) | |
| X | g.149486924C>T | CA414518660 | IDS | c.1180+1G>A (n.1180+1G>A) c.547+1G>A (n.547+1G>A) n.287+1G>A c.910+1G>A (n.910+1G>A) | |
| X | g.149486928_149486987del | CA340988 | IDS | c.1122_1180+1del c.489_547+1del n.229_287+1del c.852_910+1del | |
| X | g.149486925C>A | CA414518661 | IDS | c.1180G>T (p.Gly394Cys) c.547G>T (p.Gly183Cys) n.287G>T c.910G>T (p.Gly304Cys) | |
| X | g.149486925C>G | CA414518662 | IDS | c.1180G>C (p.Gly394Arg) c.547G>C (p.Gly183Arg) n.287G>C c.910G>C (p.Gly304Arg) | |
| X | g.149486925C>T | CA414518663 | IDS | c.1180G>A (p.Gly394Ser) c.547G>A (p.Gly183Ser) n.287G>A c.910G>A (p.Gly304Ser) | |
| X | g.149486926T>A | CA519057530 | IDS | c.1179A>T (p.Pro393=) c.546A>T (p.Pro182=) n.286A>T c.909A>T (p.Pro303=) | |
| X | g.149486926T>C | CA519057531 | IDS | c.1179A>G (p.Pro393=) c.546A>G (p.Pro182=) n.286A>G c.909A>G (p.Pro303=) | |
| X | g.149486926T>G | CA519057532 | IDS | c.1179A>C (p.Pro393=) c.546A>C (p.Pro182=) n.286A>C c.909A>C (p.Pro303=) | |
| X | g.149486927G>A | CA414518664 | IDS | c.1178C>T (p.Pro393Leu) c.545C>T (p.Pro182Leu) n.285C>T c.908C>T (p.Pro303Leu) | |
| X | g.149486927G>C | CA414518665 | IDS | c.1178C>G (p.Pro393Arg) c.545C>G (p.Pro182Arg) n.285C>G c.908C>G (p.Pro303Arg) | |
| X | g.149486927G>T | CA414518666 | IDS | c.1178C>A (p.Pro393Gln) c.545C>A (p.Pro182Gln) n.285C>A c.908C>A (p.Pro303Gln) | |
| X | g.149486928del | CA519057533 | IDS | c.1178del (p.Pro393GlnfsTer?) c.545del (p.Pro182GlnfsTer?) n.285del c.908del (p.Pro303GlnfsTer?) | COSMIC |
| X | g.149486928G>A | CA414518668 | IDS | c.1177C>T (p.Pro393Ser) c.544C>T (p.Pro182Ser) n.284C>T c.907C>T (p.Pro303Ser) | gnomAD v4 |
| X | g.149486928G>C | CA337035858 | IDS | c.1177C>G (p.Pro393Ala) c.544C>G (p.Pro182Ala) n.284C>G c.907C>G (p.Pro303Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.149486928G= | CA2465005539 | IDS | c.1177C= (p.Pro393=) c.544C= (p.Pro182=) n.284C= c.907C= (p.Pro303=) | |
| X | g.149486928G>T | CA414518667 | IDS | c.1177C>A (p.Pro393Thr) c.544C>A (p.Pro182Thr) n.284C>A c.907C>A (p.Pro303Thr) | |
| X | g.149486929C>A | CA414518669 | IDS | c.1176G>T (p.Glu392Asp) c.543G>T (p.Glu181Asp) n.283G>T c.906G>T (p.Glu302Asp) | |
| X | g.149486929C>G | CA414518670 | IDS | c.1176G>C (p.Glu392Asp) c.543G>C (p.Glu181Asp) n.283G>C c.906G>C (p.Glu302Asp) | |
| X | g.149486929C>T | CA519057534 | IDS | c.1176G>A (p.Glu392=) c.543G>A (p.Glu181=) n.283G>A c.906G>A (p.Glu302=) | |
| X | g.149486930T>A | CA414518671 | IDS | c.1175A>T (p.Glu392Val) c.542A>T (p.Glu181Val) n.282A>T c.905A>T (p.Glu302Val) | |
| X | g.149486930T>C | CA414518672 | IDS | c.1175A>G (p.Glu392Gly) c.542A>G (p.Glu181Gly) n.282A>G c.905A>G (p.Glu302Gly) | |
| X | g.149486930T>G | CA414518673 | IDS | c.1175A>C (p.Glu392Ala) c.542A>C (p.Glu181Ala) n.282A>C c.905A>C (p.Glu302Ala) | |
| X | g.149486931C>A | CA414518674 | IDS | c.1174G>T (p.Glu392Ter) c.541G>T (p.Glu181Ter) n.281G>T c.904G>T (p.Glu302Ter) | |
| X | g.149486931C>G | CA414518675 | IDS | c.1174G>C (p.Glu392Gln) c.541G>C (p.Glu181Gln) n.281G>C c.904G>C (p.Glu302Gln) | |
| X | g.149486931C>T | CA414518676 | IDS | c.1174G>A (p.Glu392Lys) c.541G>A (p.Glu181Lys) n.281G>A c.904G>A (p.Glu302Lys) | |
| X | g.149486932C>A | CA414518677 | IDS | c.1173G>T (p.Met391Ile) c.540G>T (p.Met180Ile) n.280G>T c.903G>T (p.Met301Ile) | |
| X | g.149486932C= | CA2465005540 | IDS | c.1173G= (p.Met391=) c.540G= (p.Met180=) n.280G= c.903G= (p.Met301=) | |
| X | g.149486932C>G | CA414518678 | IDS | c.1173G>C (p.Met391Ile) c.540G>C (p.Met180Ile) n.280G>C c.903G>C (p.Met301Ile) | |
| X | g.149486932C>T | CA10537486 | IDS | c.1173G>A (p.Met391Ile) c.540G>A (p.Met180Ile) n.280G>A c.903G>A (p.Met301Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149486933A>C | CA414518679 | IDS | c.1172T>G (p.Met391Arg) c.539T>G (p.Met180Arg) n.279T>G c.902T>G (p.Met301Arg) | |
| X | g.149486933A>G | CA414518680 | IDS | c.1172T>C (p.Met391Thr) c.539T>C (p.Met180Thr) n.279T>C c.902T>C (p.Met301Thr) | |
| X | g.149486933A>T | CA414518681 | IDS | c.1172T>A (p.Met391Lys) c.539T>A (p.Met180Lys) n.279T>A c.902T>A (p.Met301Lys) | |
| X | g.149486934T>A | CA414518684 | IDS | c.1171A>T (p.Met391Leu) c.538A>T (p.Met180Leu) n.278A>T c.901A>T (p.Met301Leu) | |
| X | g.149486934T>C | CA414518683 | IDS | c.1171A>G (p.Met391Val) c.538A>G (p.Met180Val) n.278A>G c.901A>G (p.Met301Val) | dbSNP gnomAD v4 COSMIC |
| X | g.149486934T>G | CA414518682 | IDS | c.1171A>C (p.Met391Leu) c.538A>C (p.Met180Leu) n.278A>C c.901A>C (p.Met301Leu) | |
| X | g.149486934T= | CA2465005541 | IDS | c.1171A= (p.Met391=) c.538A= (p.Met180=) n.278A= c.901A= (p.Met301=) | |
| X | g.149486935del | CA2582342935 | IDS | c.1170del (p.Met391TrpfsTer?) c.537del (p.Met180TrpfsTer?) n.277del c.900del (p.Met301TrpfsTer?) | ClinVar |
| X | g.149486935C>A | CA414518685 | IDS | c.1170G>T (p.Leu390Phe) c.537G>T (p.Leu179Phe) n.277G>T c.900G>T (p.Leu300Phe) | |
| X | g.149486935C>G | CA414518686 | IDS | c.1170G>C (p.Leu390Phe) c.537G>C (p.Leu179Phe) n.277G>C c.900G>C (p.Leu300Phe) | |
| X | g.149486935C>T | CA519057535 | IDS | c.1170G>A (p.Leu390=) c.537G>A (p.Leu179=) n.277G>A c.900G>A (p.Leu300=) | |
| X | g.149486936A>C | CA414518687 | IDS | c.1169T>G (p.Leu390Trp) c.536T>G (p.Leu179Trp) n.276T>G c.899T>G (p.Leu300Trp) | |
| X | g.149486936A>G | CA414518688 | IDS | c.1169T>C (p.Leu390Ser) c.536T>C (p.Leu179Ser) n.276T>C c.899T>C (p.Leu300Ser) | |
| X | g.149486936A>T | CA414518689 | IDS | c.1169T>A (p.Leu390Ter) c.536T>A (p.Leu179Ter) n.276T>A c.899T>A (p.Leu300Ter) | |
| X | g.149486937A>C | CA414518690 | IDS | c.1168T>G (p.Leu390Val) c.535T>G (p.Leu179Val) n.275T>G c.898T>G (p.Leu300Val) | |
| X | g.149486937A>G | CA519057536 | IDS | c.1168T>C (p.Leu390=) c.535T>C (p.Leu179=) n.275T>C c.898T>C (p.Leu300=) | |
| X | g.149486937A>T | CA414518691 | IDS | c.1168T>A (p.Leu390Met) c.535T>A (p.Leu179Met) n.275T>A c.898T>A (p.Leu300Met) | |
| X | g.149486938C>A | CA414518692 | IDS | c.1167G>T (p.Gln389His) c.534G>T (p.Gln178His) n.274G>T c.897G>T (p.Gln299His) | |
| X | g.149486938C>G | CA414518693 | IDS | c.1167G>C (p.Gln389His) c.534G>C (p.Gln178His) n.274G>C c.897G>C (p.Gln299His) | |
| X | g.149486938C>T | CA519057537 | IDS | c.1167G>A (p.Gln389=) c.534G>A (p.Gln178=) n.274G>A c.897G>A (p.Gln299=) | |
| X | g.149486939T>A | CA10537487 | IDS | c.1166A>T (p.Gln389Leu) c.533A>T (p.Gln178Leu) n.273A>T c.896A>T (p.Gln299Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149486939T>C | CA414518694 | IDS | c.1166A>G (p.Gln389Arg) c.533A>G (p.Gln178Arg) n.273A>G c.896A>G (p.Gln299Arg) | |
| X | g.149486939T>G | CA414518695 | IDS | c.1166A>C (p.Gln389Pro) c.533A>C (p.Gln178Pro) n.273A>C c.896A>C (p.Gln299Pro) | |
| X | g.149486939T= | CA2465005542 | IDS | c.1166A= (p.Gln389=) c.533A= (p.Gln178=) n.273A= c.896A= (p.Gln299=) | |
| X | g.149486940G>A | CA414518698 | IDS | c.1165C>T (p.Gln389Ter) c.532C>T (p.Gln178Ter) n.272C>T c.895C>T (p.Gln299Ter) | ClinVar |
| X | g.149486940G>C | CA414518697 | IDS | c.1165C>G (p.Gln389Glu) c.532C>G (p.Gln178Glu) n.272C>G c.895C>G (p.Gln299Glu) | |
| X | g.149486940G= | CA2465005543 | IDS | c.1165C= (p.Gln389=) c.532C= (p.Gln178=) n.272C= c.895C= (p.Gln299=) | |
| X | g.149486940G>T | CA414518696 | IDS | c.1165C>A (p.Gln389Lys) c.532C>A (p.Gln178Lys) n.272C>A c.895C>A (p.Gln299Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149486941T>A | CA519057538 | IDS | c.1164A>T (p.Ser388=) c.531A>T (p.Ser177=) n.271A>T c.894A>T (p.Ser298=) | |
| X | g.149486941T>C | CA10537488 | IDS | c.1164A>G (p.Ser388=) c.531A>G (p.Ser177=) n.271A>G c.894A>G (p.Ser298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486941T>G | CA519057539 | IDS | c.1164A>C (p.Ser388=) c.531A>C (p.Ser177=) n.271A>C c.894A>C (p.Ser298=) | |
| X | g.149486941T= | CA2465005544 | IDS | c.1164A= (p.Ser388=) c.531A= (p.Ser177=) n.271A= c.894A= (p.Ser298=) | |
| X | g.149486942G>A | CA414518699 | IDS | c.1163C>T (p.Ser388Leu) c.530C>T (p.Ser177Leu) n.270C>T c.893C>T (p.Ser298Leu) | |
| X | g.149486942G>C | CA414518700 | IDS | c.1163C>G (p.Ser388Ter) c.530C>G (p.Ser177Ter) n.270C>G c.893C>G (p.Ser298Ter) | |
| X | g.149486942G>T | CA414518701 | IDS | c.1163C>A (p.Ser388Ter) c.530C>A (p.Ser177Ter) n.270C>A c.893C>A (p.Ser298Ter) | |
| X | g.149486943A>C | CA414518702 | IDS | c.1162T>G (p.Ser388Ala) c.529T>G (p.Ser177Ala) n.269T>G c.892T>G (p.Ser298Ala) | |
| X | g.149486943A>G | CA414518703 | IDS | c.1162T>C (p.Ser388Pro) c.529T>C (p.Ser177Pro) n.269T>C c.892T>C (p.Ser298Pro) | |
| X | g.149486943A>T | CA414518704 | IDS | c.1162T>A (p.Ser388Thr) c.529T>A (p.Ser177Thr) n.269T>A c.892T>A (p.Ser298Thr) | |
| X | g.149486944G>A | CA519057540 | IDS | c.1161C>T (p.Ala387=) c.528C>T (p.Ala176=) n.268C>T c.891C>T (p.Ala297=) | |
| X | g.149486944G>C | CA519057541 | IDS | c.1161C>G (p.Ala387=) c.528C>G (p.Ala176=) n.268C>G c.891C>G (p.Ala297=) | |
| X | g.149486944G>T | CA519057542 | IDS | c.1161C>A (p.Ala387=) c.528C>A (p.Ala176=) n.268C>A c.891C>A (p.Ala297=) | |
| X | g.149486945G>A | CA414518705 | IDS | c.1160C>T (p.Ala387Val) c.527C>T (p.Ala176Val) n.267C>T c.890C>T (p.Ala297Val) | gnomAD v4 |
| X | g.149486945G>C | CA414518707 | IDS | c.1160C>G (p.Ala387Gly) c.527C>G (p.Ala176Gly) n.267C>G c.890C>G (p.Ala297Gly) | |
| X | g.149486945G>T | CA414518706 | IDS | c.1160C>A (p.Ala387Asp) c.527C>A (p.Ala176Asp) n.267C>A c.890C>A (p.Ala297Asp) | |
| X | g.149486946C>A | CA414518708 | IDS | c.1159G>T (p.Ala387Ser) c.526G>T (p.Ala176Ser) n.266G>T c.889G>T (p.Ala297Ser) | |
| X | g.149486946C= | CA2465005545 | IDS | c.1159G= (p.Ala387=) c.526G= (p.Ala176=) n.266G= c.889G= (p.Ala297=) | |
| X | g.149486946C>G | CA414518709 | IDS | c.1159G>C (p.Ala387Pro) c.526G>C (p.Ala176Pro) n.266G>C c.889G>C (p.Ala297Pro) | |
| X | g.149486946C>T | CA10537489 | IDS | c.1159G>A (p.Ala387Thr) c.526G>A (p.Ala176Thr) n.266G>A c.889G>A (p.Ala297Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486947G>A | CA10537490 | IDS | c.1158C>T (p.Ser386=) c.525C>T (p.Ser175=) n.265C>T c.888C>T (p.Ser296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149486947G>C | CA519057543 | IDS | c.1158C>G (p.Ser386=) c.525C>G (p.Ser175=) n.265C>G c.888C>G (p.Ser296=) | gnomAD v4 |
| X | g.149486947G= | CA2465005546 | IDS | c.1158C= (p.Ser386=) c.525C= (p.Ser175=) n.265C= c.888C= (p.Ser296=) | |
| X | g.149486947G>T | CA519057544 | IDS | c.1158C>A (p.Ser386=) c.525C>A (p.Ser175=) n.265C>A c.888C>A (p.Ser296=) | |
| X | g.149486948G>A | CA414518710 | IDS | c.1157C>T (p.Ser386Phe) c.524C>T (p.Ser175Phe) n.264C>T c.887C>T (p.Ser296Phe) | COSMIC |
| X | g.149486948G>C | CA414518712 | IDS | c.1157C>G (p.Ser386Cys) c.524C>G (p.Ser175Cys) n.264C>G c.887C>G (p.Ser296Cys) | |
| X | g.149486948G>T | CA414518711 | IDS | c.1157C>A (p.Ser386Tyr) c.524C>A (p.Ser175Tyr) n.264C>A c.887C>A (p.Ser296Tyr) | |
| X | g.149486949A= | CA2465005547 | IDS | c.1156T= (p.Ser386=) c.523T= (p.Ser175=) n.263T= c.886T= (p.Ser296=) | |
| X | g.149486949A>C | CA414518713 | IDS | c.1156T>G (p.Ser386Ala) c.523T>G (p.Ser175Ala) n.263T>G c.886T>G (p.Ser296Ala) | |
| X | g.149486949A>G | CA414518714 | IDS | c.1156T>C (p.Ser386Pro) c.523T>C (p.Ser175Pro) n.263T>C c.886T>C (p.Ser296Pro) | dbSNP |
| X | g.149486949A>T | CA414518715 | IDS | c.1156T>A (p.Ser386Thr) c.523T>A (p.Ser175Thr) n.263T>A c.886T>A (p.Ser296Thr) | |
| X | g.149486950A>C | CA414518716 | IDS | c.1155T>G (p.Asp385Glu) c.522T>G (p.Asp174Glu) n.262T>G c.885T>G (p.Asp295Glu) | |
| X | g.149486950A>G | CA519057545 | IDS | c.1155T>C (p.Asp385=) c.522T>C (p.Asp174=) n.262T>C c.885T>C (p.Asp295=) | |
| X | g.149486950A>T | CA414518717 | IDS | c.1155T>A (p.Asp385Glu) c.522T>A (p.Asp174Glu) n.262T>A c.885T>A (p.Asp295Glu) | |
| X | g.149486951T>A | CA414518718 | IDS | c.1154A>T (p.Asp385Val) c.521A>T (p.Asp174Val) n.261A>T c.884A>T (p.Asp295Val) | |
| X | g.149486951T>C | CA414518719 | IDS | c.1154A>G (p.Asp385Gly) c.521A>G (p.Asp174Gly) n.261A>G c.884A>G (p.Asp295Gly) | |
| X | g.149486951T>G | CA414518720 | IDS | c.1154A>C (p.Asp385Ala) c.521A>C (p.Asp174Ala) n.261A>C c.884A>C (p.Asp295Ala) | |
| X | g.149486952C>A | CA414518721 | IDS | c.1153G>T (p.Asp385Tyr) c.520G>T (p.Asp174Tyr) n.260G>T c.883G>T (p.Asp295Tyr) | |
| X | g.149486952C>G | CA414518722 | IDS | c.1153G>C (p.Asp385His) c.520G>C (p.Asp174His) n.260G>C c.883G>C (p.Asp295His) | |
| X | g.149486952C>T | CA414518723 | IDS | c.1153G>A (p.Asp385Asn) c.520G>A (p.Asp174Asn) n.260G>A c.883G>A (p.Asp295Asn) | |
| X | g.149486953A>C | CA414518725 | IDS | c.1152T>G (p.Phe384Leu) c.519T>G (p.Phe173Leu) n.259T>G c.882T>G (p.Phe294Leu) | |
| X | g.149486953A>G | CA519057546 | IDS | c.1152T>C (p.Phe384=) c.519T>C (p.Phe173=) n.259T>C c.882T>C (p.Phe294=) | |
| X | g.149486953A>T | CA414518724 | IDS | c.1152T>A (p.Phe384Leu) c.519T>A (p.Phe173Leu) n.259T>A c.882T>A (p.Phe294Leu) | |
| X | g.149486956del | CA2739289618 | IDS | c.1152del (p.Phe384LeufsTer7) c.519del (p.Phe173LeufsTer7) n.259del c.882del (p.Phe294LeufsTer7) | |
| X | g.149486958_149486976dup | CA2695236497 | IDS | c.1134_1152dup (p.Asp385ProfsTer7) c.501_519dup (p.Asp174ProfsTer7) n.241_259dup c.864_882dup (p.Asp295ProfsTer7) | |
| X | g.149486954A= | CA2465005548 | IDS | c.1151T= (p.Phe384=) c.518T= (p.Phe173=) n.258T= c.881T= (p.Phe294=) | |
| X | g.149486954A>C | CA414518726 | IDS | c.1151T>G (p.Phe384Cys) c.518T>G (p.Phe173Cys) n.258T>G c.881T>G (p.Phe294Cys) | |
| X | g.149486954A>G | CA414518728 | IDS | c.1151T>C (p.Phe384Ser) c.518T>C (p.Phe173Ser) n.258T>C c.881T>C (p.Phe294Ser) | dbSNP |
| X | g.149486954A>T | CA414518727 | IDS | c.1151T>A (p.Phe384Tyr) c.518T>A (p.Phe173Tyr) n.258T>A c.881T>A (p.Phe294Tyr) | |
| X | g.149486956_149486957insAGGGTCGCAAA | CA2695236498 | IDS | c.1151_1152insGCGACCCTTTT (p.Phe384LeufsTer11) c.518_519insGCGACCCTTTT (p.Phe173LeufsTer11) n.258_259insGCGACCCTTTT c.881_882insGCGACCCTTTT (p.Phe294LeufsTer11) | |
| X | g.149486954_149486955insTGCGACCCTTT | CA2465005549 | IDS | c.1150_1151insAAAGGGTCGCA (p.Phe384Ter) c.517_518insAAAGGGTCGCA (p.Phe173Ter) n.257_258insAAAGGGTCGCA c.880_881insAAAGGGTCGCA (p.Phe294Ter) | ClinVar dbSNP |
| X | g.149486955A>C | CA414518729 | IDS | c.1150T>G (p.Phe384Val) c.517T>G (p.Phe173Val) n.257T>G c.880T>G (p.Phe294Val) | |
| X | g.149486955A>G | CA414518730 | IDS | c.1150T>C (p.Phe384Leu) c.517T>C (p.Phe173Leu) n.257T>C c.880T>C (p.Phe294Leu) | |
| X | g.149486955A>T | CA414518731 | IDS | c.1150T>A (p.Phe384Ile) c.517T>A (p.Phe173Ile) n.257T>A c.880T>A (p.Phe294Ile) | |
| X | g.149486956A>C | CA519057547 | IDS | c.1149T>G (p.Pro383=) c.516T>G (p.Pro172=) n.256T>G c.879T>G (p.Pro293=) | ClinVar |
| X | g.149486956A>G | CA519057548 | IDS | c.1149T>C (p.Pro383=) c.516T>C (p.Pro172=) n.256T>C c.879T>C (p.Pro293=) | |
| X | g.149486956A>T | CA519057549 | IDS | c.1149T>A (p.Pro383=) c.516T>A (p.Pro172=) n.256T>A c.879T>A (p.Pro293=) | |
| X | g.149486956_149486957delinsAG | CA2465005550 | IDS | c.1148_1149delinsCT (p.Pro383=) c.515_516delinsCT (p.Pro172=) n.255_256delinsCT c.878_879delinsCT (p.Pro293=) | |
| X | g.149486957G>A | CA414518732 | IDS | c.1148C>T (p.Pro383Leu) c.515C>T (p.Pro172Leu) n.255C>T c.878C>T (p.Pro293Leu) | |
| X | g.149486957G>C | CA414518733 | IDS | c.1148C>G (p.Pro383Arg) c.515C>G (p.Pro172Arg) n.255C>G c.878C>G (p.Pro293Arg) | |
| X | g.149486957G>T | CA414518734 | IDS | c.1148C>A (p.Pro383His) c.515C>A (p.Pro172His) n.255C>A c.878C>A (p.Pro293His) | |
| X | g.149486959del | CA234126 | IDS | c.1148del (p.Pro383LeufsTer8) c.515del (p.Pro172LeufsTer8) n.255del c.878del (p.Pro293LeufsTer8) | ClinVar dbSNP |
| X | g.149486958G>A | CA414518735 | IDS | c.1147C>T (p.Pro383Ser) c.514C>T (p.Pro172Ser) n.254C>T c.877C>T (p.Pro293Ser) | dbSNP COSMIC |
| X | g.149486958G>C | CA414518736 | IDS | c.1147C>G (p.Pro383Ala) c.514C>G (p.Pro172Ala) n.254C>G c.877C>G (p.Pro293Ala) | |
| X | g.149486958G= | CA2465005551 | IDS | c.1147C= (p.Pro383=) c.514C= (p.Pro172=) n.254C= c.877C= (p.Pro293=) | |
| X | g.149486958G>T | CA414518737 | IDS | c.1147C>A (p.Pro383Thr) c.514C>A (p.Pro172Thr) n.254C>A c.877C>A (p.Pro293Thr) | ClinVar dbSNP |
| X | g.149486959G>A | CA519057550 | IDS | c.1146C>T (p.Asp382=) c.513C>T (p.Asp171=) n.253C>T c.876C>T (p.Asp292=) | |
| X | g.149486959G>C | CA414518738 | IDS | c.1146C>G (p.Asp382Glu) c.513C>G (p.Asp171Glu) n.253C>G c.876C>G (p.Asp292Glu) | |
| X | g.149486959G>T | CA414518739 | IDS | c.1146C>A (p.Asp382Glu) c.513C>A (p.Asp171Glu) n.253C>A c.876C>A (p.Asp292Glu) | |
| X | g.149486960T>A | CA414518742 | IDS | c.1145A>T (p.Asp382Val) c.512A>T (p.Asp171Val) n.252A>T c.875A>T (p.Asp292Val) | |
| X | g.149486960T>C | CA414518741 | IDS | c.1145A>G (p.Asp382Gly) c.512A>G (p.Asp171Gly) n.252A>G c.875A>G (p.Asp292Gly) | |
| X | g.149486960T>G | CA414518740 | IDS | c.1145A>C (p.Asp382Ala) c.512A>C (p.Asp171Ala) n.252A>C c.875A>C (p.Asp292Ala) | |
| X | g.149486961C>A | CA414518743 | IDS | c.1144G>T (p.Asp382Tyr) c.511G>T (p.Asp171Tyr) n.251G>T c.874G>T (p.Asp292Tyr) | |
| X | g.149486961C= | CA2465005552 | IDS | c.1144G= (p.Asp382=) c.511G= (p.Asp171=) n.251G= c.874G= (p.Asp292=) | |
| X | g.149486961C>G | CA10537492 | IDS | c.1144G>C (p.Asp382His) c.511G>C (p.Asp171His) n.251G>C c.874G>C (p.Asp292His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486961C>T | CA10537491 | IDS | c.1144G>A (p.Asp382Asn) c.511G>A (p.Asp171Asn) n.251G>A c.874G>A (p.Asp292Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149486961_149486962del | CA2579719141 | IDS | c.1143_1144del (p.Asp382ProfsTer3) c.510_511del (p.Asp171ProfsTer3) n.250_251del c.873_874del (p.Asp292ProfsTer3) | |
| X | g.149486962G>A | CA10537493 | IDS | c.1143C>T (p.Leu381=) c.510C>T (p.Leu170=) n.250C>T c.873C>T (p.Leu291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486962G>C | CA519057551 | IDS | c.1143C>G (p.Leu381=) c.510C>G (p.Leu170=) n.250C>G c.873C>G (p.Leu291=) | |
| X | g.149486962G= | CA2465005553 | IDS | c.1143C= (p.Leu381=) c.510C= (p.Leu170=) n.250C= c.873C= (p.Leu291=) | |
| X | g.149486962G>T | CA519057552 | IDS | c.1143C>A (p.Leu381=) c.510C>A (p.Leu170=) n.250C>A c.873C>A (p.Leu291=) | gnomAD v4 |
| X | g.149486963_149486964del | CA2739289619 | IDS | c.1142_1143del (p.Leu381ArgfsTer4) c.509_510del (p.Leu170ArgfsTer4) n.249_250del c.872_873del (p.Leu291ArgfsTer4) | |
| X | g.149486963A= | CA2465005555 | IDS | c.1142T= (p.Leu381=) c.509T= (p.Leu170=) n.249T= c.872T= (p.Leu291=) | |
| X | g.149486963A>C | CA414518744 | IDS | c.1142T>G (p.Leu381Arg) c.509T>G (p.Leu170Arg) n.249T>G c.872T>G (p.Leu291Arg) | ClinVar dbSNP |
| X | g.149486963A>G | CA414518745 | IDS | c.1142T>C (p.Leu381Pro) c.509T>C (p.Leu170Pro) n.249T>C c.872T>C (p.Leu291Pro) | |
| X | g.149486963A>T | CA414518746 | IDS | c.1142T>A (p.Leu381His) c.509T>A (p.Leu170His) n.249T>A c.872T>A (p.Leu291His) | |
| X | g.149486963_149486964delinsAG | CA2465005554 | IDS | c.1141_1142delinsCT (p.Leu381=) c.508_509delinsCT (p.Leu170=) n.248_249delinsCT c.871_872delinsCT (p.Leu291=) | |
| X | g.149486964G>A | CA414518747 | IDS | c.1141C>T (p.Leu381Phe) c.508C>T (p.Leu170Phe) n.248C>T c.871C>T (p.Leu291Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149486964G>C | CA414518748 | IDS | c.1141C>G (p.Leu381Val) c.508C>G (p.Leu170Val) n.248C>G c.871C>G (p.Leu291Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486964G= | CA2465005556 | IDS | c.1141C= (p.Leu381=) c.508C= (p.Leu170=) n.248C= c.871C= (p.Leu291=) | |
| X | g.149486964G>T | CA414518749 | IDS | c.1141C>A (p.Leu381Ile) c.508C>A (p.Leu170Ile) n.248C>A c.871C>A (p.Leu291Ile) | |
| X | g.149486965dup | CA2695236501 | IDS | c.1141dup (p.Leu381ProfsTer5) c.508dup (p.Leu170ProfsTer5) n.248dup c.871dup (p.Leu291ProfsTer5) | |
| X | g.149486965del | CA10537494 | IDS | c.1141del (p.Leu381SerfsTer10) c.508del (p.Leu170SerfsTer10) n.248del c.871del (p.Leu291SerfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149486965G>A | CA519057553 | IDS | c.1140C>T (p.Tyr380=) c.507C>T (p.Tyr169=) n.247C>T c.870C>T (p.Tyr290=) | |
| X | g.149486965G>C | CA414518750 | IDS | c.1140C>G (p.Tyr380Ter) c.507C>G (p.Tyr169Ter) n.247C>G c.870C>G (p.Tyr290Ter) | |
| X | g.149486965G>T | CA414518751 | IDS | c.1140C>A (p.Tyr380Ter) c.507C>A (p.Tyr169Ter) n.247C>A c.870C>A (p.Tyr290Ter) | |
| X | g.149486966T>A | CA414518753 | IDS | c.1139A>T (p.Tyr380Phe) c.506A>T (p.Tyr169Phe) n.246A>T c.869A>T (p.Tyr290Phe) | |
| X | g.149486966T>C | CA414518754 | IDS | c.1139A>G (p.Tyr380Cys) c.506A>G (p.Tyr169Cys) n.246A>G c.869A>G (p.Tyr290Cys) | |
| X | g.149486966T>G | CA414518752 | IDS | c.1139A>C (p.Tyr380Ser) c.506A>C (p.Tyr169Ser) n.246A>C c.869A>C (p.Tyr290Ser) | |
| X | g.149486967A>C | CA414518755 | IDS | c.1138T>G (p.Tyr380Asp) c.505T>G (p.Tyr169Asp) n.245T>G c.868T>G (p.Tyr290Asp) | |
| X | g.149486967A>G | CA414518756 | IDS | c.1138T>C (p.Tyr380His) c.505T>C (p.Tyr169His) n.245T>C c.868T>C (p.Tyr290His) | |
| X | g.149486967A>T | CA414518757 | IDS | c.1138T>A (p.Tyr380Asn) c.505T>A (p.Tyr169Asn) n.245T>A c.868T>A (p.Tyr290Asn) | |
| X | g.149486968A>C | CA519057554 | IDS | c.1137T>G (p.Pro379=) c.504T>G (p.Pro168=) n.244T>G c.867T>G (p.Pro289=) | |
| X | g.149486968A>G | CA519057555 | IDS | c.1137T>C (p.Pro379=) c.504T>C (p.Pro168=) n.244T>C c.867T>C (p.Pro289=) | |
| X | g.149486968A>T | CA519057556 | IDS | c.1137T>A (p.Pro379=) c.504T>A (p.Pro168=) n.244T>A c.867T>A (p.Pro289=) | |
| X | g.149486969G>A | CA10537495 | IDS | c.1136C>T (p.Pro379Leu) c.503C>T (p.Pro168Leu) n.243C>T c.866C>T (p.Pro289Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486969G>C | CA414518758 | IDS | c.1136C>G (p.Pro379Arg) c.503C>G (p.Pro168Arg) n.243C>G c.866C>G (p.Pro289Arg) | |
| X | g.149486969G= | CA2465005557 | IDS | c.1136C= (p.Pro379=) c.503C= (p.Pro168=) n.243C= c.866C= (p.Pro289=) | |
| X | g.149486969G>T | CA414518759 | IDS | c.1136C>A (p.Pro379His) c.503C>A (p.Pro168His) n.243C>A c.866C>A (p.Pro289His) | |
| X | g.149486970G>A | CA10537496 | IDS | c.1135C>T (p.Pro379Ser) c.502C>T (p.Pro168Ser) n.242C>T c.865C>T (p.Pro289Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.149486970G>C | CA414518760 | IDS | c.1135C>G (p.Pro379Ala) c.502C>G (p.Pro168Ala) n.242C>G c.865C>G (p.Pro289Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149486970G= | CA2465005558 | IDS | c.1135C= (p.Pro379=) c.502C= (p.Pro168=) n.242C= c.865C= (p.Pro289=) | |
| X | g.149486970G>T | CA414518761 | IDS | c.1135C>A (p.Pro379Thr) c.502C>A (p.Pro168Thr) n.242C>A c.865C>A (p.Pro289Thr) | |
| X | g.149486971G>A | CA519057557 | IDS | c.1134C>T (p.Phe378=) c.501C>T (p.Phe167=) n.241C>T c.864C>T (p.Phe288=) | |
| X | g.149486971G>C | CA414518762 | IDS | c.1134C>G (p.Phe378Leu) c.501C>G (p.Phe167Leu) n.241C>G c.864C>G (p.Phe288Leu) | |
| X | g.149486971G>T | CA414518763 | IDS | c.1134C>A (p.Phe378Leu) c.501C>A (p.Phe167Leu) n.241C>A c.864C>A (p.Phe288Leu) | |
| X | g.149486971_149486973delinsGAA | CA2465005559 | IDS | c.1132_1134delinsTTC (p.Phe378=) c.499_501delinsTTC (p.Phe167=) n.239_241delinsTTC c.862_864delinsTTC (p.Phe288=) | |
| X | g.149486972A= | CA2465005560 | IDS | c.1133T= (p.Phe378=) c.500T= (p.Phe167=) n.240T= c.863T= (p.Phe288=) | |
| X | g.149486972A>C | CA414518766 | IDS | c.1133T>G (p.Phe378Cys) c.500T>G (p.Phe167Cys) n.240T>G c.863T>G (p.Phe288Cys) | |
| X | g.149486972A>G | CA414518765 | IDS | c.1133T>C (p.Phe378Ser) c.500T>C (p.Phe167Ser) n.240T>C c.863T>C (p.Phe288Ser) | dbSNP |
| X | g.149486972A>T | CA414518764 | IDS | c.1133T>A (p.Phe378Tyr) c.500T>A (p.Phe167Tyr) n.240T>A c.863T>A (p.Phe288Tyr) | |
| X | g.149486974_149486975del | CA356949 | IDS | c.1132_1133del (p.Phe378ProfsTer7) c.499_500del (p.Phe167ProfsTer7) n.239_240del c.862_863del (p.Phe288ProfsTer7) | ClinVar dbSNP |
| X | g.149486973A>C | CA414518767 | IDS | c.1132T>G (p.Phe378Val) c.499T>G (p.Phe167Val) n.239T>G c.862T>G (p.Phe288Val) | |
| X | g.149486973A>G | CA414518768 | IDS | c.1132T>C (p.Phe378Leu) c.499T>C (p.Phe167Leu) n.239T>C c.862T>C (p.Phe288Leu) | |
| X | g.149486973A>T | CA414518769 | IDS | c.1132T>A (p.Phe378Ile) c.499T>A (p.Phe167Ile) n.239T>A c.862T>A (p.Phe288Ile) | |
| X | g.149486974A>C | CA519057558 | IDS | c.1131T>G (p.Leu377=) c.498T>G (p.Leu166=) n.238T>G c.861T>G (p.Leu287=) | |
| X | g.149486974A>G | CA519057559 | IDS | c.1131T>C (p.Leu377=) c.498T>C (p.Leu166=) n.238T>C c.861T>C (p.Leu287=) | |
| X | g.149486974A>T | CA519057560 | IDS | c.1131T>A (p.Leu377=) c.498T>A (p.Leu166=) n.238T>A c.861T>A (p.Leu287=) | |
| X | g.149486975A>C | CA414518770 | IDS | c.1130T>G (p.Leu377Arg) c.497T>G (p.Leu166Arg) n.237T>G c.860T>G (p.Leu287Arg) | |
| X | g.149486975A>G | CA414518771 | IDS | c.1130T>C (p.Leu377Pro) c.497T>C (p.Leu166Pro) n.237T>C c.860T>C (p.Leu287Pro) | |
| X | g.149486975A>T | CA414518772 | IDS | c.1130T>A (p.Leu377His) c.497T>A (p.Leu166His) n.237T>A c.860T>A (p.Leu287His) | |
| X | g.149486975_149486976delinsAG | CA2465005561 | IDS | c.1129_1130delinsCT (p.Leu377=) c.496_497delinsCT (p.Leu166=) n.236_237delinsCT c.859_860delinsCT (p.Leu287=) | |
| X | g.149486976del | CA2465005562 | IDS | c.1129del (p.Leu377PhefsTer14) c.496del (p.Leu166PhefsTer14) n.236del c.859del (p.Leu287PhefsTer14) | ClinVar dbSNP |
| X | g.149486976G>A | CA414518773 | IDS | c.1129C>T (p.Leu377Phe) c.496C>T (p.Leu166Phe) n.236C>T c.859C>T (p.Leu287Phe) | |
| X | g.149486976G>C | CA414518774 | IDS | c.1129C>G (p.Leu377Val) c.496C>G (p.Leu166Val) n.236C>G c.859C>G (p.Leu287Val) | |
| X | g.149486976G>T | CA414518775 | IDS | c.1129C>A (p.Leu377Ile) c.496C>A (p.Leu166Ile) n.236C>A c.859C>A (p.Leu287Ile) | |
| X | g.149486977C>A | CA414518776 | IDS | c.1128G>T (p.Lys376Asn) c.495G>T (p.Lys165Asn) n.235G>T c.858G>T (p.Lys286Asn) | |
| X | g.149486977C= | CA2465005563 | IDS | c.1128G= (p.Lys376=) c.495G= (p.Lys165=) n.235G= c.858G= (p.Lys286=) | |
| X | g.149486977C>G | CA414518777 | IDS | c.1128G>C (p.Lys376Asn) c.495G>C (p.Lys165Asn) n.235G>C c.858G>C (p.Lys286Asn) | |
| X | g.149486977C>T | CA519057561 | IDS | c.1128G>A (p.Lys376=) c.495G>A (p.Lys165=) n.235G>A c.858G>A (p.Lys286=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.149486978T>A | CA414518778 | IDS | c.1127A>T (p.Lys376Met) c.494A>T (p.Lys165Met) n.234A>T c.857A>T (p.Lys286Met) | |
| X | g.149486978T>C | CA414518779 | IDS | c.1127A>G (p.Lys376Arg) c.494A>G (p.Lys165Arg) n.234A>G c.857A>G (p.Lys286Arg) | |
| X | g.149486978T>G | CA10537497 | IDS | c.1127A>C (p.Lys376Thr) c.494A>C (p.Lys165Thr) n.234A>C c.857A>C (p.Lys286Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486978T= | CA2465005564 | IDS | c.1127A= (p.Lys376=) c.494A= (p.Lys165=) n.234A= c.857A= (p.Lys286=) | |
| X | g.149486979T>A | CA414518782 | IDS | c.1126A>T (p.Lys376Ter) c.493A>T (p.Lys165Ter) n.233A>T c.856A>T (p.Lys286Ter) | |
| X | g.149486979T>C | CA414518780 | IDS | c.1126A>G (p.Lys376Glu) c.493A>G (p.Lys165Glu) n.233A>G c.856A>G (p.Lys286Glu) | |
| X | g.149486979T>G | CA414518781 | IDS | c.1126A>C (p.Lys376Gln) c.493A>C (p.Lys165Gln) n.233A>C c.856A>C (p.Lys286Gln) | |
| X | g.149486980C>A | CA10537498 | IDS | c.1125G>T (p.Glu375Asp) c.492G>T (p.Glu164Asp) n.232G>T c.855G>T (p.Glu285Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149486980C= | CA2465005565 | IDS | c.1125G= (p.Glu375=) c.492G= (p.Glu164=) n.232G= c.855G= (p.Glu285=) | |
| X | g.149486980C>G | CA414518783 | IDS | c.1125G>C (p.Glu375Asp) c.492G>C (p.Glu164Asp) n.232G>C c.855G>C (p.Glu285Asp) | |
| X | g.149486980C>T | CA519057562 | IDS | c.1125G>A (p.Glu375=) c.492G>A (p.Glu164=) n.232G>A c.855G>A (p.Glu285=) | gnomAD v4 |
| X | g.149486981T>A | CA414518784 | IDS | c.1124A>T (p.Glu375Val) c.491A>T (p.Glu164Val) n.231A>T c.854A>T (p.Glu285Val) | |
| X | g.149486981T>C | CA414518785 | IDS | c.1124A>G (p.Glu375Gly) c.491A>G (p.Glu164Gly) n.231A>G c.854A>G (p.Glu285Gly) | gnomAD v4 |
| X | g.149486981T>G | CA414518786 | IDS | c.1124A>C (p.Glu375Ala) c.491A>C (p.Glu164Ala) n.231A>C c.854A>C (p.Glu285Ala) | |
| X | g.149486982C>A | CA414518787 | IDS | c.1123G>T (p.Glu375Ter) c.490G>T (p.Glu164Ter) n.230G>T c.853G>T (p.Glu285Ter) | ClinVar dbSNP |
| X | g.149486982C= | CA2465005566 | IDS | c.1123G= (p.Glu375=) c.490G= (p.Glu164=) n.230G= c.853G= (p.Glu285=) | |
| X | g.149486982C>G | CA414518788 | IDS | c.1123G>C (p.Glu375Gln) c.490G>C (p.Glu164Gln) n.230G>C c.853G>C (p.Glu285Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149486982C>T | CA10537499 | IDS | c.1123G>A (p.Glu375Lys) c.490G>A (p.Glu164Lys) n.230G>A c.853G>A (p.Glu285Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.149486983G>A | CA340989 | IDS | c.1122C>T (p.Gly374=) c.489C>T (p.Gly163=) n.229C>T c.852C>T (p.Gly284=) | ClinVar dbSNP COSMIC |
| X | g.149486983G>C | CA519057563 | IDS | c.1122C>G (p.Gly374=) c.489C>G (p.Gly163=) n.229C>G c.852C>G (p.Gly284=) | |
| X | g.149486983G= | CA2465005567 | IDS | c.1122C= (p.Gly374=) c.489C= (p.Gly163=) n.229C= c.852C= (p.Gly284=) | |
| X | g.149486983G>T | CA519057564 | IDS | c.1122C>A (p.Gly374=) c.489C>A (p.Gly163=) n.229C>A c.852C>A (p.Gly284=) | ClinVar dbSNP gnomAD v4 |
| X | g.149486986_149487004del | CA2695236506 | IDS | c.1104_1122del (p.Ser369ArgfsTer16) c.471_489del (p.Ser158ArgfsTer16) n.211_229del c.834_852del (p.Ser279ArgfsTer16) | |
| X | g.149486984C>A | CA414518789 | IDS | c.1121G>T (p.Gly374Val) c.488G>T (p.Gly163Val) n.228G>T c.851G>T (p.Gly284Val) | ClinVar dbSNP gnomAD v4 |
| X | g.149486984C>G | CA414518790 | IDS | c.1121G>C (p.Gly374Ala) c.488G>C (p.Gly163Ala) n.228G>C c.851G>C (p.Gly284Ala) | |
| X | g.149486984C>T | CA414518791 | IDS | c.1121G>A (p.Gly374Asp) c.488G>A (p.Gly163Asp) n.228G>A c.851G>A (p.Gly284Asp) | |
| X | g.149486985C>A | CA414518792 | IDS | c.1120G>T (p.Gly374Cys) c.487G>T (p.Gly163Cys) n.227G>T c.850G>T (p.Gly284Cys) | |
| X | g.149486985C>G | CA414518794 | IDS | c.1120G>C (p.Gly374Arg) c.487G>C (p.Gly163Arg) n.227G>C c.850G>C (p.Gly284Arg) | |
| X | g.149486985C>T | CA414518793 | IDS | c.1120G>A (p.Gly374Ser) c.487G>A (p.Gly163Ser) n.227G>A c.850G>A (p.Gly284Ser) | |
| X | g.149486986T>A | CA519057565 | IDS | c.1119A>T (p.Ala373=) c.486A>T (p.Ala162=) n.226A>T c.849A>T (p.Ala283=) | |
| X | g.149486986T>C | CA519057567 | IDS | c.1119A>G (p.Ala373=) c.486A>G (p.Ala162=) n.226A>G c.849A>G (p.Ala283=) | |
| X | g.149486986T>G | CA519057566 | IDS | c.1119A>C (p.Ala373=) c.486A>C (p.Ala162=) n.226A>C c.849A>C (p.Ala283=) | |
| X | g.149486987G>A | CA414518795 | IDS | c.1118C>T (p.Ala373Val) c.485C>T (p.Ala162Val) n.225C>T c.848C>T (p.Ala283Val) | |
| X | g.149486987G>C | CA414518796 | IDS | c.1118C>G (p.Ala373Gly) c.485C>G (p.Ala162Gly) n.225C>G c.848C>G (p.Ala283Gly) | |
| X | g.149486987G>T | CA414518797 | IDS | c.1118C>A (p.Ala373Glu) c.485C>A (p.Ala162Glu) n.225C>A c.848C>A (p.Ala283Glu) | |
| X | g.149486988C>A | CA414518798 | IDS | c.1117G>T (p.Ala373Ser) c.484G>T (p.Ala162Ser) n.224G>T c.847G>T (p.Ala283Ser) | |
| X | g.149486988C>G | CA414518799 | IDS | c.1117G>C (p.Ala373Pro) c.484G>C (p.Ala162Pro) n.224G>C c.847G>C (p.Ala283Pro) | |
| X | g.149486988C>T | CA414518800 | IDS | c.1117G>A (p.Ala373Thr) c.484G>A (p.Ala162Thr) n.224G>A c.847G>A (p.Ala283Thr) | |
| X | g.149486989C>A | CA414518801 | IDS | c.1116G>T (p.Glu372Asp) c.483G>T (p.Glu161Asp) n.223G>T c.846G>T (p.Glu282Asp) | |
| X | g.149486989C>G | CA414518802 | IDS | c.1116G>C (p.Glu372Asp) c.483G>C (p.Glu161Asp) n.223G>C c.846G>C (p.Glu282Asp) | |
| X | g.149486989C>T | CA519057568 | IDS | c.1116G>A (p.Glu372=) c.483G>A (p.Glu161=) n.223G>A c.846G>A (p.Glu282=) | |
| X | g.149486990del | CA2499226414 | IDS | c.1115del (p.Glu372GlyfsTer19) c.482del (p.Glu161GlyfsTer19) n.222del c.845del (p.Glu282GlyfsTer19) | ClinVar dbSNP |
| X | g.149486990T>A | CA414518803 | IDS | c.1115A>T (p.Glu372Val) c.482A>T (p.Glu161Val) n.222A>T c.845A>T (p.Glu282Val) | |
| X | g.149486990T>C | CA414518804 | IDS | c.1115A>G (p.Glu372Gly) c.482A>G (p.Glu161Gly) n.222A>G c.845A>G (p.Glu282Gly) | |
| X | g.149486990T>G | CA414518805 | IDS | c.1115A>C (p.Glu372Ala) c.482A>C (p.Glu161Ala) n.222A>C c.845A>C (p.Glu282Ala) | |
| X | g.149486993_149487012del | CA2695236510 | IDS | c.1096_1115del (p.Arg366GlyfsTer13) c.463_482del (p.Arg155GlyfsTer13) n.203_222del c.826_845del (p.Arg276GlyfsTer13) | |
| X | g.149486991C>A | CA414518808 | IDS | c.1114G>T (p.Glu372Ter) c.481G>T (p.Glu161Ter) n.221G>T c.844G>T (p.Glu282Ter) | |
| X | g.149486991C= | CA2465005568 | IDS | c.1114G= (p.Glu372=) c.481G= (p.Glu161=) n.221G= c.844G= (p.Glu282=) | |
| X | g.149486991C>G | CA414518807 | IDS | c.1114G>C (p.Glu372Gln) c.481G>C (p.Glu161Gln) n.221G>C c.844G>C (p.Glu282Gln) | dbSNP |
| X | g.149486991C>T | CA414518806 | IDS | c.1114G>A (p.Glu372Lys) c.481G>A (p.Glu161Lys) n.221G>A c.844G>A (p.Glu282Lys) | |
| X | g.149486992C>A | CA337035859 | IDS | c.1113G>T (p.Pro371=) c.480G>T (p.Pro160=) n.220G>T c.843G>T (p.Pro281=) | ClinVar dbSNP gnomAD v4 |
| X | g.149486992C= | CA2465005569 | IDS | c.1113G= (p.Pro371=) c.480G= (p.Pro160=) n.220G= c.843G= (p.Pro281=) | |
| X | g.149486992C>G | CA519057569 | IDS | c.1113G>C (p.Pro371=) c.480G>C (p.Pro160=) n.220G>C c.843G>C (p.Pro281=) | |
| X | g.149486992C>T | CA10537500 | IDS | c.1113G>A (p.Pro371=) c.480G>A (p.Pro160=) n.220G>A c.843G>A (p.Pro281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149486993G>A | CA10537501 | IDS | c.1112C>T (p.Pro371Leu) c.479C>T (p.Pro160Leu) n.219C>T c.842C>T (p.Pro281Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.149486993G>C | CA414518809 | IDS | c.1112C>G (p.Pro371Arg) c.479C>G (p.Pro160Arg) n.219C>G c.842C>G (p.Pro281Arg) | |
| X | g.149486993G= | CA2465005570 | IDS | c.1112C= (p.Pro371=) c.479C= (p.Pro160=) n.219C= c.842C= (p.Pro281=) | |
| X | g.149486993G>T | CA414518810 | IDS | c.1112C>A (p.Pro371Gln) c.479C>A (p.Pro160Gln) n.219C>A c.842C>A (p.Pro281Gln) | |
| X | g.149486994del | CA2695236512 | IDS | c.1112del (p.Pro371ArgfsTer20) c.479del (p.Pro160ArgfsTer20) n.219del c.842del (p.Pro281ArgfsTer20) | |
| X | g.149486994G>A | CA414518811 | IDS | c.1111C>T (p.Pro371Ser) c.478C>T (p.Pro160Ser) n.218C>T c.841C>T (p.Pro281Ser) | COSMIC |
| X | g.149486994G>C | CA414518812 | IDS | c.1111C>G (p.Pro371Ala) c.478C>G (p.Pro160Ala) n.218C>G c.841C>G (p.Pro281Ala) | COSMIC |
| X | g.149486994G>T | CA414518813 | IDS | c.1111C>A (p.Pro371Thr) c.478C>A (p.Pro160Thr) n.218C>A c.841C>A (p.Pro281Thr) | |
| X | g.149486995A>C | CA519057570 | IDS | c.1110T>G (p.Leu370=) c.477T>G (p.Leu159=) n.217T>G c.840T>G (p.Leu280=) | |
| X | g.149486995A>G | CA519057571 | IDS | c.1110T>C (p.Leu370=) c.477T>C (p.Leu159=) n.217T>C c.840T>C (p.Leu280=) | |
| X | g.149486995A>T | CA519057572 | IDS | c.1110T>A (p.Leu370=) c.477T>A (p.Leu159=) n.217T>A c.840T>A (p.Leu280=) | |
| X | g.149486996A>C | CA414518814 | IDS | c.1109T>G (p.Leu370Arg) c.476T>G (p.Leu159Arg) n.216T>G c.839T>G (p.Leu280Arg) | |
| X | g.149486996A>G | CA414518815 | IDS | c.1109T>C (p.Leu370Pro) c.476T>C (p.Leu159Pro) n.216T>C c.839T>C (p.Leu280Pro) | |
| X | g.149486996A>T | CA414518816 | IDS | c.1109T>A (p.Leu370His) c.476T>A (p.Leu159His) n.216T>A c.839T>A (p.Leu280His) | |
| X | g.149486997G>A | CA414518817 | IDS | c.1108C>T (p.Leu370Phe) c.475C>T (p.Leu159Phe) n.215C>T c.838C>T (p.Leu280Phe) | |
| X | g.149486997G>C | CA414518818 | IDS | c.1108C>G (p.Leu370Val) c.475C>G (p.Leu159Val) n.215C>G c.838C>G (p.Leu280Val) | |
| X | g.149486997G>T | CA414518819 | IDS | c.1108C>A (p.Leu370Ile) c.475C>A (p.Leu159Ile) n.215C>A c.838C>A (p.Leu280Ile) | |
| X | g.149486998T>A | CA519057573 | IDS | c.1107A>T (p.Ser369=) c.474A>T (p.Ser158=) n.214A>T c.837A>T (p.Ser279=) | |
| X | g.149486998T>C | CA519057574 | IDS | c.1107A>G (p.Ser369=) c.474A>G (p.Ser158=) n.214A>G c.837A>G (p.Ser279=) | |
| X | g.149486998T>G | CA519057575 | IDS | c.1107A>C (p.Ser369=) c.474A>C (p.Ser158=) n.214A>C c.837A>C (p.Ser279=) | |
| X | g.149486999G>A | CA414518822 | IDS | c.1106C>T (p.Ser369Leu) c.473C>T (p.Ser158Leu) n.213C>T c.836C>T (p.Ser279Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149486999G>C | CA414518821 | IDS | c.1106C>G (p.Ser369Ter) c.473C>G (p.Ser158Ter) n.213C>G c.836C>G (p.Ser279Ter) | |
| X | g.149486999G= | CA2465005571 | IDS | c.1106C= (p.Ser369=) c.473C= (p.Ser158=) n.213C= c.836C= (p.Ser279=) | |
| X | g.149486999G>T | CA414518820 | IDS | c.1106C>A (p.Ser369Ter) c.473C>A (p.Ser158Ter) n.213C>A c.836C>A (p.Ser279Ter) | ClinVar dbSNP |
| X | g.149487000A= | CA2465005572 | IDS | c.1105T= (p.Ser369=) c.472T= (p.Ser158=) n.212T= c.835T= (p.Ser279=) | |
| X | g.149487000A>C | CA414518823 | IDS | c.1105T>G (p.Ser369Ala) c.472T>G (p.Ser158Ala) n.212T>G c.835T>G (p.Ser279Ala) | |
| X | g.149487000A>G | CA414518824 | IDS | c.1105T>C (p.Ser369Pro) c.472T>C (p.Ser158Pro) n.212T>C c.835T>C (p.Ser279Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.149487000A>T | CA414518825 | IDS | c.1105T>A (p.Ser369Thr) c.472T>A (p.Ser158Thr) n.212T>A c.835T>A (p.Ser279Thr) | |
| X | g.149487001A>C | CA519057576 | IDS | c.1104T>G (p.Ala368=) c.471T>G (p.Ala157=) n.211T>G c.834T>G (p.Ala278=) | |
| X | g.149487001A>G | CA519057577 | IDS | c.1104T>C (p.Ala368=) c.471T>C (p.Ala157=) n.211T>C c.834T>C (p.Ala278=) | |
| X | g.149487001A>T | CA519057578 | IDS | c.1104T>A (p.Ala368=) c.471T>A (p.Ala157=) n.211T>A c.834T>A (p.Ala278=) | |
| X | g.149487002G>A | CA414518826 | IDS | c.1103C>T (p.Ala368Val) c.470C>T (p.Ala157Val) n.210C>T c.833C>T (p.Ala278Val) | |
| X | g.149487002G>C | CA414518827 | IDS | c.1103C>G (p.Ala368Gly) c.470C>G (p.Ala157Gly) n.210C>G c.833C>G (p.Ala278Gly) | |
| X | g.149487002G>T | CA414518828 | IDS | c.1103C>A (p.Ala368Asp) c.470C>A (p.Ala157Asp) n.210C>A c.833C>A (p.Ala278Asp) | |
| X | g.149487003C>A | CA414518829 | IDS | c.1102G>T (p.Ala368Ser) c.469G>T (p.Ala157Ser) n.209G>T c.832G>T (p.Ala278Ser) | |
| X | g.149487003C>G | CA414518830 | IDS | c.1102G>C (p.Ala368Pro) c.469G>C (p.Ala157Pro) n.209G>C c.832G>C (p.Ala278Pro) | |
| X | g.149487003C>T | CA414518831 | IDS | c.1102G>A (p.Ala368Thr) c.469G>A (p.Ala157Thr) n.209G>A c.832G>A (p.Ala278Thr) | |
| X | g.149487004C>A | CA519057579 | IDS | c.1101G>T (p.Thr367=) c.468G>T (p.Thr156=) n.208G>T c.831G>T (p.Thr277=) | |
| X | g.149487004C>G | CA519057580 | IDS | c.1101G>C (p.Thr367=) c.468G>C (p.Thr156=) n.208G>C c.831G>C (p.Thr277=) | |
| X | g.149487004C>T | CA519057581 | IDS | c.1101G>A (p.Thr367=) c.468G>A (p.Thr156=) n.208G>A c.831G>A (p.Thr277=) | ClinVar gnomAD v4 |
| X | g.149487005G>A | CA10537502 | IDS | c.1100C>T (p.Thr367Met) c.467C>T (p.Thr156Met) n.207C>T c.830C>T (p.Thr277Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149487005G>C | CA414518832 | IDS | c.1100C>G (p.Thr367Arg) c.467C>G (p.Thr156Arg) n.207C>G c.830C>G (p.Thr277Arg) | |
| X | g.149487005G= | CA2465005573 | IDS | c.1100C= (p.Thr367=) c.467C= (p.Thr156=) n.207C= c.830C= (p.Thr277=) | |
| X | g.149487005G>T | CA414518833 | IDS | c.1100C>A (p.Thr367Lys) c.467C>A (p.Thr156Lys) n.207C>A c.830C>A (p.Thr277Lys) | |
| X | g.149487006T>A | CA414518836 | IDS | c.1099A>T (p.Thr367Ser) c.466A>T (p.Thr156Ser) n.206A>T c.829A>T (p.Thr277Ser) | ClinVar dbSNP |
| X | g.149487006T>C | CA414518835 | IDS | c.1099A>G (p.Thr367Ala) c.466A>G (p.Thr156Ala) n.206A>G c.829A>G (p.Thr277Ala) | |
| X | g.149487006T>G | CA414518834 | IDS | c.1099A>C (p.Thr367Pro) c.466A>C (p.Thr156Pro) n.206A>C c.829A>C (p.Thr277Pro) | |
| X | g.149487006T= | CA2465005574 | IDS | c.1099A= (p.Thr367=) c.466A= (p.Thr156=) n.206A= c.829A= (p.Thr277=) | |
| X | g.149487007C>A | CA414518837 | IDS | c.1098G>T (p.Arg366Ser) c.465G>T (p.Arg155Ser) n.205G>T c.828G>T (p.Arg276Ser) | |
| X | g.149487007C>G | CA414518838 | IDS | c.1098G>C (p.Arg366Ser) c.465G>C (p.Arg155Ser) n.205G>C c.828G>C (p.Arg276Ser) | |
| X | g.149487007C>T | CA519057582 | IDS | c.1098G>A (p.Arg366=) c.465G>A (p.Arg155=) n.205G>A c.828G>A (p.Arg276=) | |
| X | g.149487008C>A | CA414518839 | IDS | c.1097G>T (p.Arg366Met) c.464G>T (p.Arg155Met) n.204G>T c.827G>T (p.Arg276Met) | |
| X | g.149487008C>G | CA414518841 | IDS | c.1097G>C (p.Arg366Thr) c.464G>C (p.Arg155Thr) n.204G>C c.827G>C (p.Arg276Thr) | |
| X | g.149487008C>T | CA414518840 | IDS | c.1097G>A (p.Arg366Lys) c.464G>A (p.Arg155Lys) n.204G>A c.827G>A (p.Arg276Lys) | COSMIC |
| X | g.149487009T>A | CA414518842 | IDS | c.1096A>T (p.Arg366Trp) c.463A>T (p.Arg155Trp) n.203A>T c.826A>T (p.Arg276Trp) | |
| X | g.149487009T>C | CA414518843 | IDS | c.1096A>G (p.Arg366Gly) c.463A>G (p.Arg155Gly) n.203A>G c.826A>G (p.Arg276Gly) | |
| X | g.149487009T>G | CA519057583 | IDS | c.1096A>C (p.Arg366=) c.463A>C (p.Arg155=) n.203A>C c.826A>C (p.Arg276=) | |
| X | g.149487010T>A | CA519057584 | IDS | c.1095A>T (p.Gly365=) c.462A>T (p.Gly154=) n.202A>T c.825A>T (p.Gly275=) | |
| X | g.149487010T>C | CA519057585 | IDS | c.1095A>G (p.Gly365=) c.462A>G (p.Gly154=) n.202A>G c.825A>G (p.Gly275=) | |
| X | g.149487010T>G | CA519057586 | IDS | c.1095A>C (p.Gly365=) c.462A>C (p.Gly154=) n.202A>C c.825A>C (p.Gly275=) | |
| X | g.149487011C>A | CA414518844 | IDS | c.1094G>T (p.Gly365Val) c.461G>T (p.Gly154Val) n.201G>T c.824G>T (p.Gly275Val) | COSMIC |
| X | g.149487011C>G | CA414518845 | IDS | c.1094G>C (p.Gly365Ala) c.461G>C (p.Gly154Ala) n.201G>C c.824G>C (p.Gly275Ala) | |
| X | g.149487011C>T | CA414518846 | IDS | c.1094G>A (p.Gly365Glu) c.461G>A (p.Gly154Glu) n.201G>A c.824G>A (p.Gly275Glu) | COSMIC |