Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.63629435T>A | CA340645473 | PGM1 | c.257T>A (p.Leu86Ter) c.311T>A (p.Leu104Ter) c.-335T>A (n.-335T>A) | |
1 | g.63629435T>C | CA340645476 | PGM1 | c.257T>C (p.Leu86Ser) c.311T>C (p.Leu104Ser) c.-335T>C (n.-335T>C) | |
1 | g.63629435T>G | CA340645477 | PGM1 | c.257T>G (p.Leu86Trp) c.311T>G (p.Leu104Trp) c.-335T>G (n.-335T>G) | |
1 | g.63629436G>A | CA418207516 | PGM1 | c.258G>A (p.Leu86=) c.312G>A (p.Leu104=) c.-334G>A (n.-334G>A) | |
1 | g.63629436G>C | CA340645479 | PGM1 | c.258G>C (p.Leu86Phe) c.312G>C (p.Leu104Phe) c.-334G>C (n.-334G>C) | |
1 | g.63629436G>T | CA340645481 | PGM1 | c.258G>T (p.Leu86Phe) c.312G>T (p.Leu104Phe) c.-334G>T (n.-334G>T) | |
1 | g.63629437G>A | CA340645491 | PGM1 | c.259G>A (p.Val87Ile) c.313G>A (p.Val105Ile) c.-333G>A (n.-333G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629437G>C | CA340645485 | PGM1 | c.259G>C (p.Val87Leu) c.313G>C (p.Val105Leu) c.-333G>C (n.-333G>C) | |
1 | g.63629437G= | CA1171571077 | PGM1 | c.259G= (p.Val87=) c.313G= (p.Val105=) c.-333G= (n.-333G=) | |
1 | g.63629437G>T | CA340645482 | PGM1 | c.259G>T (p.Val87Phe) c.313G>T (p.Val105Phe) c.-333G>T (n.-333G>T) | |
1 | g.63629438T>A | CA340645494 | PGM1 | c.260T>A (p.Val87Asp) c.314T>A (p.Val105Asp) c.-332T>A (n.-332T>A) | |
1 | g.63629438T>C | CA340645497 | PGM1 | c.260T>C (p.Val87Ala) c.314T>C (p.Val105Ala) c.-332T>C (n.-332T>C) | |
1 | g.63629438T>G | CA340645499 | PGM1 | c.260T>G (p.Val87Gly) c.314T>G (p.Val105Gly) c.-332T>G (n.-332T>G) | |
1 | g.63629439T>A | CA418207535 | PGM1 | c.261T>A (p.Val87=) c.315T>A (p.Val105=) c.-331T>A (n.-331T>A) | |
1 | g.63629439T>C | CA889497 | PGM1 | c.261T>C (p.Val87=) c.315T>C (p.Val105=) c.-331T>C (n.-331T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629439T>G | CA418207532 | PGM1 | c.261T>G (p.Val87=) c.315T>G (p.Val105=) c.-331T>G (n.-331T>G) | |
1 | g.63629439T= | CA1142184387 | PGM1 | c.261T= (p.Val87=) c.315T= (p.Val105=) c.-331T= (n.-331T=) | |
1 | g.63629440A= | CA1139835933 | PGM1 | c.262A= (p.Ile88=) c.316A= (p.Ile106=) c.-330A= (n.-330A=) | |
1 | g.63629440A>C | CA340645503 | PGM1 | c.262A>C (p.Ile88Leu) c.316A>C (p.Ile106Leu) c.-330A>C (n.-330A>C) | |
1 | g.63629440A>G | CA889498 | PGM1 | c.262A>G (p.Ile88Val) c.316A>G (p.Ile106Val) c.-330A>G (n.-330A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629440A>T | CA340645506 | PGM1 | c.262A>T (p.Ile88Phe) c.316A>T (p.Ile106Phe) c.-330A>T (n.-330A>T) | |
1 | g.63629441T>A | CA340645508 | PGM1 | c.263T>A (p.Ile88Asn) c.317T>A (p.Ile106Asn) c.-329T>A (n.-329T>A) | gnomAD v4 COSMIC COSMIC |
1 | g.63629441T>C | CA889499 | PGM1 | c.263T>C (p.Ile88Thr) c.317T>C (p.Ile106Thr) c.-329T>C (n.-329T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629441T>G | CA340645511 | PGM1 | c.263T>G (p.Ile88Ser) c.317T>G (p.Ile106Ser) c.-329T>G (n.-329T>G) | |
1 | g.63629441T= | CA1171571078 | PGM1 | c.263T= (p.Ile88=) c.317T= (p.Ile106=) c.-329T= (n.-329T=) | |
1 | g.63629442C>A | CA418207545 | PGM1 | c.264C>A (p.Ile88=) c.318C>A (p.Ile106=) c.-328C>A (n.-328C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629442C= | CA1143449914 | PGM1 | c.264C= (p.Ile88=) c.318C= (p.Ile106=) c.-328C= (n.-328C=) | |
1 | g.63629442C>G | CA340645513 | PGM1 | c.264C>G (p.Ile88Met) c.318C>G (p.Ile106Met) c.-328C>G (n.-328C>G) | |
1 | g.63629442C>T | CA889500 | PGM1 | c.264C>T (p.Ile88=) c.318C>T (p.Ile106=) c.-328C>T (n.-328C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.63629443G>A | CA889501 | PGM1 | c.265G>A (p.Gly89Arg) c.319G>A (p.Gly107Arg) c.-327G>A (n.-327G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629443G>C | CA340645519 | PGM1 | c.265G>C (p.Gly89Arg) c.319G>C (p.Gly107Arg) c.-327G>C (n.-327G>C) | |
1 | g.63629443G= | CA1144196978 | PGM1 | c.265G= (p.Gly89=) c.319G= (p.Gly107=) c.-327G= (n.-327G=) | |
1 | g.63629443G>T | CA340645518 | PGM1 | c.265G>T (p.Gly89Ter) c.319G>T (p.Gly107Ter) c.-327G>T (n.-327G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629443_63629444delinsTT | CA2697552464 | PGM1 | c.265_266delinsTT (p.Gly89Leu) c.319_320delinsTT (p.Gly107Leu) c.-327_-326delinsTT (n.-327_-326delinsTT) | ClinVar |
1 | g.63629444G>A | CA340645522 | PGM1 | c.266G>A (p.Gly89Glu) c.320G>A (p.Gly107Glu) c.-326G>A (n.-326G>A) | |
1 | g.63629444G>C | CA340645524 | PGM1 | c.266G>C (p.Gly89Ala) c.320G>C (p.Gly107Ala) c.-326G>C (n.-326G>C) | |
1 | g.63629444G= | CA1171571079 | PGM1 | c.266G= (p.Gly89=) c.320G= (p.Gly107=) c.-326G= (n.-326G=) | |
1 | g.63629444G>T | CA340645526 | PGM1 | c.266G>T (p.Gly89Val) c.320G>T (p.Gly107Val) c.-326G>T (n.-326G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629445A= | CA1171571080 | PGM1 | c.267A= (p.Gly89=) c.321A= (p.Gly107=) c.-325A= (n.-325A=) | |
1 | g.63629445A>C | CA418207560 | PGM1 | c.267A>C (p.Gly89=) c.321A>C (p.Gly107=) c.-325A>C (n.-325A>C) | |
1 | g.63629445A>G | CA889502 | PGM1 | c.267A>G (p.Gly89=) c.321A>G (p.Gly107=) c.-325A>G (n.-325A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629445A>T | CA418207564 | PGM1 | c.267A>T (p.Gly89=) c.321A>T (p.Gly107=) c.-325A>T (n.-325A>T) | |
1 | g.63629446C>A | CA340645532 | PGM1 | c.268C>A (p.Gln90Lys) c.322C>A (p.Gln108Lys) c.-324C>A (n.-324C>A) | |
1 | g.63629446C= | CA1146353665 | PGM1 | c.268C= (p.Gln90=) c.322C= (p.Gln108=) c.-324C= (n.-324C=) | |
1 | g.63629446C>G | CA340645535 | PGM1 | c.268C>G (p.Gln90Glu) c.322C>G (p.Gln108Glu) c.-324C>G (n.-324C>G) | |
1 | g.63629446C>T | CA889503 | PGM1 | c.268C>T (p.Gln90Ter) c.322C>T (p.Gln108Ter) c.-324C>T (n.-324C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629447A= | CA1171571082 | PGM1 | c.269A= (p.Gln90=) c.323A= (p.Gln108=) c.-323A= (n.-323A=) | |
1 | g.63629447A>C | CA340645537 | PGM1 | c.269A>C (p.Gln90Pro) c.323A>C (p.Gln108Pro) c.-323A>C (n.-323A>C) | |
1 | g.63629447A>G | CA340645540 | PGM1 | c.269A>G (p.Gln90Arg) c.323A>G (p.Gln108Arg) c.-323A>G (n.-323A>G) | dbSNP |
1 | g.63629447A>T | CA340645543 | PGM1 | c.269A>T (p.Gln90Leu) c.323A>T (p.Gln108Leu) c.-323A>T (n.-323A>T) | |
1 | g.63629447_63629448insAAA | CA1171571081 | PGM1 | c.269_270insAAA (p.Gln90_Asn91insLys) c.323_324insAAA (p.Gln108_Asn109insLys) c.-323_-322insAAA (n.-323_-322insAAA) | dbSNP |
1 | g.63629448G>A | CA418207576 | PGM1 | c.270G>A (p.Gln90=) c.324G>A (p.Gln108=) c.-322G>A (n.-322G>A) | dbSNP |
1 | g.63629448G>C | CA340645546 | PGM1 | c.270G>C (p.Gln90His) c.324G>C (p.Gln108His) c.-322G>C (n.-322G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629448G= | CA1171571083 | PGM1 | c.270G= (p.Gln90=) c.324G= (p.Gln108=) c.-322G= (n.-322G=) | |
1 | g.63629448G>T | CA340645547 | PGM1 | c.270G>T (p.Gln90His) c.324G>T (p.Gln108His) c.-322G>T (n.-322G>T) | COSMIC |
1 | g.63629449A= | CA1171571084 | PGM1 | c.271A= (p.Asn91=) c.325A= (p.Asn109=) c.-321A= (n.-321A=) | |
1 | g.63629449A>C | CA340645554 | PGM1 | c.271A>C (p.Asn91His) c.325A>C (p.Asn109His) c.-321A>C (n.-321A>C) | |
1 | g.63629449A>G | CA340645553 | PGM1 | c.271A>G (p.Asn91Asp) c.325A>G (p.Asn109Asp) c.-321A>G (n.-321A>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.63629449A>T | CA340645550 | PGM1 | c.271A>T (p.Asn91Tyr) c.325A>T (p.Asn109Tyr) c.-321A>T (n.-321A>T) | |
1 | g.63629450A>C | CA340645556 | PGM1 | c.272A>C (p.Asn91Thr) c.326A>C (p.Asn109Thr) c.-320A>C (n.-320A>C) | |
1 | g.63629450A>G | CA340645561 | PGM1 | c.272A>G (p.Asn91Ser) c.326A>G (p.Asn109Ser) c.-320A>G (n.-320A>G) | |
1 | g.63629450A>T | CA340645558 | PGM1 | c.272A>T (p.Asn91Ile) c.326A>T (p.Asn109Ile) c.-320A>T (n.-320A>T) | |
1 | g.63629451T>A | CA340645562 | PGM1 | c.273T>A (p.Asn91Lys) c.327T>A (p.Asn109Lys) c.-319T>A (n.-319T>A) | |
1 | g.63629451T>C | CA418207590 | PGM1 | c.273T>C (p.Asn91=) c.327T>C (p.Asn109=) c.-319T>C (n.-319T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629451T>G | CA340645563 | PGM1 | c.273T>G (p.Asn91Lys) c.327T>G (p.Asn109Lys) c.-319T>G (n.-319T>G) | |
1 | g.63629451T= | CA1171571085 | PGM1 | c.273T= (p.Asn91=) c.327T= (p.Asn109=) c.-319T= (n.-319T=) | |
1 | g.63629451_63629452insAATA | CA1171571086 | PGM1 | c.273_274insAATA (p.Gly92AsnfsTer14) c.327_328insAATA (p.Gly110AsnfsTer14) c.-319_-318insAATA (n.-319_-318insAATA) | dbSNP |
1 | g.63629452G>A | CA340645566 | PGM1 | c.274G>A (p.Gly92Arg) c.328G>A (p.Gly110Arg) c.-318G>A (n.-318G>A) | gnomAD v4 |
1 | g.63629452G>C | CA340645567 | PGM1 | c.274G>C (p.Gly92Arg) c.328G>C (p.Gly110Arg) c.-318G>C (n.-318G>C) | |
1 | g.63629452G>T | CA340645570 | PGM1 | c.274G>T (p.Gly92Ter) c.328G>T (p.Gly110Ter) c.-318G>T (n.-318G>T) | |
1 | g.63629453G>A | CA340645573 | PGM1 | c.275G>A (p.Gly92Glu) c.329G>A (p.Gly110Glu) c.-317G>A (n.-317G>A) | |
1 | g.63629453G>C | CA340645575 | PGM1 | c.275G>C (p.Gly92Ala) c.329G>C (p.Gly110Ala) c.-317G>C (n.-317G>C) | |
1 | g.63629453G= | CA1171571087 | PGM1 | c.275G= (p.Gly92=) c.329G= (p.Gly110=) c.-317G= (n.-317G=) | |
1 | g.63629453G>T | CA340645577 | PGM1 | c.275G>T (p.Gly92Val) c.329G>T (p.Gly110Val) c.-317G>T (n.-317G>T) | dbSNP |
1 | g.63629454A>C | CA418207603 | PGM1 | c.276A>C (p.Gly92=) c.330A>C (p.Gly110=) c.-316A>C (n.-316A>C) | |
1 | g.63629454A>G | CA418207605 | PGM1 | c.276A>G (p.Gly92=) c.330A>G (p.Gly110=) c.-316A>G (n.-316A>G) | |
1 | g.63629454A>T | CA418207607 | PGM1 | c.276A>T (p.Gly92=) c.330A>T (p.Gly110=) c.-316A>T (n.-316A>T) | |
1 | g.63629455A>C | CA340645578 | PGM1 | c.277A>C (p.Ile93Leu) c.331A>C (p.Ile111Leu) c.-315A>C (n.-315A>C) | |
1 | g.63629455A>G | CA340645579 | PGM1 | c.277A>G (p.Ile93Val) c.331A>G (p.Ile111Val) c.-315A>G (n.-315A>G) | gnomAD v4 |
1 | g.63629455A>T | CA340645582 | PGM1 | c.277A>T (p.Ile93Phe) c.331A>T (p.Ile111Phe) c.-315A>T (n.-315A>T) | |
1 | g.63629456T>A | CA340645589 | PGM1 | c.278T>A (p.Ile93Asn) c.332T>A (p.Ile111Asn) c.-314T>A (n.-314T>A) | |
1 | g.63629456T>C | CA340645585 | PGM1 | c.278T>C (p.Ile93Thr) c.332T>C (p.Ile111Thr) c.-314T>C (n.-314T>C) | |
1 | g.63629456T>G | CA340645588 | PGM1 | c.278T>G (p.Ile93Ser) c.332T>G (p.Ile111Ser) c.-314T>G (n.-314T>G) | |
1 | g.63629457C>A | CA418207619 | PGM1 | c.279C>A (p.Ile93=) c.333C>A (p.Ile111=) c.-313C>A (n.-313C>A) | |
1 | g.63629457C= | CA1171571088 | PGM1 | c.279C= (p.Ile93=) c.333C= (p.Ile111=) c.-313C= (n.-313C=) | |
1 | g.63629457C>G | CA340645592 | PGM1 | c.279C>G (p.Ile93Met) c.333C>G (p.Ile111Met) c.-313C>G (n.-313C>G) | |
1 | g.63629457C>T | CA889504 | PGM1 | c.279C>T (p.Ile93=) c.333C>T (p.Ile111=) c.-313C>T (n.-313C>T) | dbSNP ExAC gnomAD v2 |
1 | g.63629458C>A | CA340645604 | PGM1 | c.280C>A (p.Leu94Ile) c.334C>A (p.Leu112Ile) c.-312C>A (n.-312C>A) | |
1 | g.63629458C>G | CA340645606 | PGM1 | c.280C>G (p.Leu94Val) c.334C>G (p.Leu112Val) c.-312C>G (n.-312C>G) | |
1 | g.63629458C>T | CA340645608 | PGM1 | c.280C>T (p.Leu94Phe) c.334C>T (p.Leu112Phe) c.-312C>T (n.-312C>T) | gnomAD v4 |
1 | g.63629459T>A | CA340645610 | PGM1 | c.281T>A (p.Leu94His) c.335T>A (p.Leu112His) c.-311T>A (n.-311T>A) | |
1 | g.63629459T>C | CA340645612 | PGM1 | c.281T>C (p.Leu94Pro) c.335T>C (p.Leu112Pro) c.-311T>C (n.-311T>C) | |
1 | g.63629459T>G | CA340645614 | PGM1 | c.281T>G (p.Leu94Arg) c.335T>G (p.Leu112Arg) c.-311T>G (n.-311T>G) | |
1 | g.63629460C>A | CA418207638 | PGM1 | c.282C>A (p.Leu94=) c.336C>A (p.Leu112=) c.-310C>A (n.-310C>A) | |
1 | g.63629460C= | CA1171571089 | PGM1 | c.282C= (p.Leu94=) c.336C= (p.Leu112=) c.-310C= (n.-310C=) | |
1 | g.63629460C>G | CA418207639 | PGM1 | c.282C>G (p.Leu94=) c.336C>G (p.Leu112=) c.-310C>G (n.-310C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629460C>T | CA418207636 | PGM1 | c.282C>T (p.Leu94=) c.336C>T (p.Leu112=) c.-310C>T (n.-310C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.63629461T>A | CA340645616 | PGM1 | c.283T>A (p.Ser95Thr) c.337T>A (p.Ser113Thr) c.-309T>A (n.-309T>A) | |
1 | g.63629461T>C | CA340645617 | PGM1 | c.283T>C (p.Ser95Pro) c.337T>C (p.Ser113Pro) c.-309T>C (n.-309T>C) | |
1 | g.63629461T>G | CA340645620 | PGM1 | c.283T>G (p.Ser95Ala) c.337T>G (p.Ser113Ala) c.-309T>G (n.-309T>G) | |
1 | g.63629462C>A | CA340645624 | PGM1 | c.284C>A (p.Ser95Tyr) c.338C>A (p.Ser113Tyr) c.-308C>A (n.-308C>A) | |
1 | g.63629462C>G | CA340645625 | PGM1 | c.284C>G (p.Ser95Cys) c.338C>G (p.Ser113Cys) c.-308C>G (n.-308C>G) | |
1 | g.63629462C>T | CA340645622 | PGM1 | c.284C>T (p.Ser95Phe) c.338C>T (p.Ser113Phe) c.-308C>T (n.-308C>T) | |
1 | g.63629463C>A | CA418207655 | PGM1 | c.285C>A (p.Ser95=) c.339C>A (p.Ser113=) c.-307C>A (n.-307C>A) | |
1 | g.63629463C>G | CA418207652 | PGM1 | c.285C>G (p.Ser95=) c.339C>G (p.Ser113=) c.-307C>G (n.-307C>G) | |
1 | g.63629463C>T | CA418207653 | PGM1 | c.285C>T (p.Ser95=) c.339C>T (p.Ser113=) c.-307C>T (n.-307C>T) | gnomAD v4 |
1 | g.63629464A= | CA1171571090 | PGM1 | c.286A= (p.Thr96=) c.340A= (p.Thr114=) c.-306A= (n.-306A=) | |
1 | g.63629464A>C | CA340645627 | PGM1 | c.286A>C (p.Thr96Pro) c.340A>C (p.Thr114Pro) c.-306A>C (n.-306A>C) | dbSNP |
1 | g.63629464A>G | CA340645628 | PGM1 | c.286A>G (p.Thr96Ala) c.340A>G (p.Thr114Ala) c.-306A>G (n.-306A>G) | |
1 | g.63629464A>T | CA340645630 | PGM1 | c.286A>T (p.Thr96Ser) c.340A>T (p.Thr114Ser) c.-306A>T (n.-306A>T) | |
1 | g.63629465C>A | CA23832067 | PGM1 | c.287C>A (p.Thr96Asn) c.341C>A (p.Thr114Asn) c.-305C>A (n.-305C>A) | dbSNP gnomAD v4 |
1 | g.63629465C= | CA1171571091 | PGM1 | c.287C= (p.Thr96=) c.341C= (p.Thr114=) c.-305C= (n.-305C=) | |
1 | g.63629465C>G | CA340645632 | PGM1 | c.287C>G (p.Thr96Ser) c.341C>G (p.Thr114Ser) c.-305C>G (n.-305C>G) | |
1 | g.63629465C>T | CA340645635 | PGM1 | c.287C>T (p.Thr96Ile) c.341C>T (p.Thr114Ile) c.-305C>T (n.-305C>T) | |
1 | g.63629466C>A | CA418207668 | PGM1 | c.288C>A (p.Thr96=) c.342C>A (p.Thr114=) c.-304C>A (n.-304C>A) | |
1 | g.63629466C= | CA1171571092 | PGM1 | c.288C= (p.Thr96=) c.342C= (p.Thr114=) c.-304C= (n.-304C=) | |
1 | g.63629466C>G | CA418207672 | PGM1 | c.288C>G (p.Thr96=) c.342C>G (p.Thr114=) c.-304C>G (n.-304C>G) | |
1 | g.63629466C>T | CA418207670 | PGM1 | c.288C>T (p.Thr96=) c.342C>T (p.Thr114=) c.-304C>T (n.-304C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629467C>A | CA340645637 | PGM1 | c.289C>A (p.Pro97Thr) c.343C>A (p.Pro115Thr) c.-303C>A (n.-303C>A) | |
1 | g.63629467C>G | CA340645639 | PGM1 | c.289C>G (p.Pro97Ala) c.343C>G (p.Pro115Ala) c.-303C>G (n.-303C>G) | |
1 | g.63629467C>T | CA340645641 | PGM1 | c.289C>T (p.Pro97Ser) c.343C>T (p.Pro115Ser) c.-303C>T (n.-303C>T) | |
1 | g.63629468C>A | CA340645642 | PGM1 | c.290C>A (p.Pro97His) c.344C>A (p.Pro115His) c.-302C>A (n.-302C>A) | |
1 | g.63629468C= | CA1171571093 | PGM1 | c.290C= (p.Pro97=) c.344C= (p.Pro115=) c.-302C= (n.-302C=) | |
1 | g.63629468C>G | CA340645645 | PGM1 | c.290C>G (p.Pro97Arg) c.344C>G (p.Pro115Arg) c.-302C>G (n.-302C>G) | gnomAD v4 |
1 | g.63629468C>T | CA23832073 | PGM1 | c.290C>T (p.Pro97Leu) c.344C>T (p.Pro115Leu) c.-302C>T (n.-302C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629469T>A | CA418207684 | PGM1 | c.291T>A (p.Pro97=) c.345T>A (p.Pro115=) c.-301T>A (n.-301T>A) | |
1 | g.63629469T>C | CA418207685 | PGM1 | c.291T>C (p.Pro97=) c.345T>C (p.Pro115=) c.-301T>C (n.-301T>C) | |
1 | g.63629469T>G | CA418207688 | PGM1 | c.291T>G (p.Pro97=) c.345T>G (p.Pro115=) c.-301T>G (n.-301T>G) | |
1 | g.63629470G>A | CA340645650 | PGM1 | c.292G>A (p.Ala98Thr) c.346G>A (p.Ala116Thr) c.-300G>A (n.-300G>A) | |
1 | g.63629470G>C | CA340645652 | PGM1 | c.292G>C (p.Ala98Pro) c.346G>C (p.Ala116Pro) c.-300G>C (n.-300G>C) | |
1 | g.63629470G>T | CA340645649 | PGM1 | c.292G>T (p.Ala98Ser) c.346G>T (p.Ala116Ser) c.-300G>T (n.-300G>T) | |
1 | g.63629471C>A | CA340645656 | PGM1 | c.293C>A (p.Ala98Asp) c.347C>A (p.Ala116Asp) c.-299C>A (n.-299C>A) | |
1 | g.63629471C>G | CA340645658 | PGM1 | c.293C>G (p.Ala98Gly) c.347C>G (p.Ala116Gly) c.-299C>G (n.-299C>G) | |
1 | g.63629471C>T | CA340645660 | PGM1 | c.293C>T (p.Ala98Val) c.347C>T (p.Ala116Val) c.-299C>T (n.-299C>T) | |
1 | g.63629472T>A | CA889505 | PGM1 | c.294T>A (p.Ala98=) c.348T>A (p.Ala116=) c.-298T>A (n.-298T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629472T>C | CA418207700 | PGM1 | c.294T>C (p.Ala98=) c.348T>C (p.Ala116=) c.-298T>C (n.-298T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629472T>G | CA418207701 | PGM1 | c.294T>G (p.Ala98=) c.348T>G (p.Ala116=) c.-298T>G (n.-298T>G) | |
1 | g.63629472T= | CA1171571094 | PGM1 | c.294T= (p.Ala98=) c.348T= (p.Ala116=) c.-298T= (n.-298T=) | |
1 | g.63629473G>A | CA340645670 | PGM1 | c.295G>A (p.Val99Ile) c.349G>A (p.Val117Ile) c.-297G>A (n.-297G>A) | dbSNP gnomAD v4 |
1 | g.63629473G>C | CA340645667 | PGM1 | c.295G>C (p.Val99Leu) c.349G>C (p.Val117Leu) c.-297G>C (n.-297G>C) | |
1 | g.63629473G= | CA1171571095 | PGM1 | c.295G= (p.Val99=) c.349G= (p.Val117=) c.-297G= (n.-297G=) | |
1 | g.63629473G>T | CA340645665 | PGM1 | c.295G>T (p.Val99Leu) c.349G>T (p.Val117Leu) c.-297G>T (n.-297G>T) | |
1 | g.63629474T>A | CA340645671 | PGM1 | c.296T>A (p.Val99Glu) c.350T>A (p.Val117Glu) c.-296T>A (n.-296T>A) | |
1 | g.63629474T>C | CA340645673 | PGM1 | c.296T>C (p.Val99Ala) c.350T>C (p.Val117Ala) c.-296T>C (n.-296T>C) | |
1 | g.63629474T>G | CA340645675 | PGM1 | c.296T>G (p.Val99Gly) c.350T>G (p.Val117Gly) c.-296T>G (n.-296T>G) | |
1 | g.63629475A>C | CA418207715 | PGM1 | c.297A>C (p.Val99=) c.351A>C (p.Val117=) c.-295A>C (n.-295A>C) | |
1 | g.63629475A>G | CA418207718 | PGM1 | c.297A>G (p.Val99=) c.351A>G (p.Val117=) c.-295A>G (n.-295A>G) | |
1 | g.63629475A>T | CA418207720 | PGM1 | c.297A>T (p.Val99=) c.351A>T (p.Val117=) c.-295A>T (n.-295A>T) | |
1 | g.63629476T>A | CA340645677 | PGM1 | c.298T>A (p.Ser100Thr) c.352T>A (p.Ser118Thr) c.-294T>A (n.-294T>A) | |
1 | g.63629476T>C | CA340645680 | PGM1 | c.298T>C (p.Ser100Pro) c.352T>C (p.Ser118Pro) c.-294T>C (n.-294T>C) | |
1 | g.63629476T>G | CA340645692 | PGM1 | c.298T>G (p.Ser100Ala) c.352T>G (p.Ser118Ala) c.-294T>G (n.-294T>G) | |
1 | g.63629477C>A | CA340645701 | PGM1 | c.299C>A (p.Ser100Tyr) c.353C>A (p.Ser118Tyr) c.-293C>A (n.-293C>A) | |
1 | g.63629477C= | CA1171571096 | PGM1 | c.299C= (p.Ser100=) c.353C= (p.Ser118=) c.-293C= (n.-293C=) | |
1 | g.63629477C>G | CA340645695 | PGM1 | c.299C>G (p.Ser100Cys) c.353C>G (p.Ser118Cys) c.-293C>G (n.-293C>G) | gnomAD v4 |
1 | g.63629477C>T | CA340645696 | PGM1 | c.299C>T (p.Ser100Phe) c.353C>T (p.Ser118Phe) c.-293C>T (n.-293C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629478C>A | CA418207733 | PGM1 | c.300C>A (p.Ser100=) c.354C>A (p.Ser118=) c.-292C>A (n.-292C>A) | |
1 | g.63629478C>G | CA418207734 | PGM1 | c.300C>G (p.Ser100=) c.354C>G (p.Ser118=) c.-292C>G (n.-292C>G) | ClinVar |
1 | g.63629478C>T | CA418207736 | PGM1 | c.300C>T (p.Ser100=) c.354C>T (p.Ser118=) c.-292C>T (n.-292C>T) | dbSNP |
1 | g.63629479T>A | CA340645703 | PGM1 | c.301T>A (p.Cys101Ser) c.355T>A (p.Cys119Ser) c.-291T>A (n.-291T>A) | |
1 | g.63629479T>C | CA340645709 | PGM1 | c.301T>C (p.Cys101Arg) c.355T>C (p.Cys119Arg) c.-291T>C (n.-291T>C) | |
1 | g.63629479T>G | CA340645706 | PGM1 | c.301T>G (p.Cys101Gly) c.355T>G (p.Cys119Gly) c.-291T>G (n.-291T>G) | dbSNP |
1 | g.63629479T= | CA1171571097 | PGM1 | c.301T= (p.Cys101=) c.355T= (p.Cys119=) c.-291T= (n.-291T=) | |
1 | g.63629480G>A | CA340645712 | PGM1 | c.302G>A (p.Cys101Tyr) c.356G>A (p.Cys119Tyr) c.-290G>A (n.-290G>A) | |
1 | g.63629480G>C | CA340645714 | PGM1 | c.302G>C (p.Cys101Ser) c.356G>C (p.Cys119Ser) c.-290G>C (n.-290G>C) | |
1 | g.63629480G>T | CA340645713 | PGM1 | c.302G>T (p.Cys101Phe) c.356G>T (p.Cys119Phe) c.-290G>T (n.-290G>T) | |
1 | g.63629481C>A | CA340645715 | PGM1 | c.303C>A (p.Cys101Ter) c.357C>A (p.Cys119Ter) c.-289C>A (n.-289C>A) | |
1 | g.63629481C>G | CA340645716 | PGM1 | c.303C>G (p.Cys101Trp) c.357C>G (p.Cys119Trp) c.-289C>G (n.-289C>G) | |
1 | g.63629481C>T | CA418207747 | PGM1 | c.303C>T (p.Cys101=) c.357C>T (p.Cys119=) c.-289C>T (n.-289C>T) | |
1 | g.63629482A>C | CA340645717 | PGM1 | c.304A>C (p.Ile102Leu) c.358A>C (p.Ile120Leu) c.-288A>C (n.-288A>C) | |
1 | g.63629482A>G | CA340645719 | PGM1 | c.304A>G (p.Ile102Val) c.358A>G (p.Ile120Val) c.-288A>G (n.-288A>G) | |
1 | g.63629482A>T | CA340645721 | PGM1 | c.304A>T (p.Ile102Phe) c.358A>T (p.Ile120Phe) c.-288A>T (n.-288A>T) | |
1 | g.63629483T>A | CA340645724 | PGM1 | c.305T>A (p.Ile102Asn) c.359T>A (p.Ile120Asn) c.-287T>A (n.-287T>A) | |
1 | g.63629483T>C | CA340645726 | PGM1 | c.305T>C (p.Ile102Thr) c.359T>C (p.Ile120Thr) c.-287T>C (n.-287T>C) | |
1 | g.63629483T>G | CA340645729 | PGM1 | c.305T>G (p.Ile102Ser) c.359T>G (p.Ile120Ser) c.-287T>G (n.-287T>G) | |
1 | g.63629484C>A | CA418207759 | PGM1 | c.306C>A (p.Ile102=) c.360C>A (p.Ile120=) c.-286C>A (n.-286C>A) | |
1 | g.63629484C= | CA1148400254 | PGM1 | c.306C= (p.Ile102=) c.360C= (p.Ile120=) c.-286C= (n.-286C=) | |
1 | g.63629484C>G | CA340645733 | PGM1 | c.306C>G (p.Ile102Met) c.360C>G (p.Ile120Met) c.-286C>G (n.-286C>G) | |
1 | g.63629484C>T | CA889506 | PGM1 | c.306C>T (p.Ile102=) c.360C>T (p.Ile120=) c.-286C>T (n.-286C>T) | dbSNP ExAC gnomAD v2 |
1 | g.63629485A>C | CA340645748 | PGM1 | c.307A>C (p.Ile103Leu) c.361A>C (p.Ile121Leu) c.-285A>C (n.-285A>C) | |
1 | g.63629485A>G | CA340645745 | PGM1 | c.307A>G (p.Ile103Val) c.361A>G (p.Ile121Val) c.-285A>G (n.-285A>G) | gnomAD v4 |
1 | g.63629485A>T | CA340645740 | PGM1 | c.307A>T (p.Ile103Phe) c.361A>T (p.Ile121Phe) c.-285A>T (n.-285A>T) | |
1 | g.63629486T>A | CA340645750 | PGM1 | c.308T>A (p.Ile103Asn) c.362T>A (p.Ile121Asn) c.-284T>A (n.-284T>A) | |
1 | g.63629486T>C | CA340645753 | PGM1 | c.308T>C (p.Ile103Thr) c.362T>C (p.Ile121Thr) c.-284T>C (n.-284T>C) | |
1 | g.63629486T>G | CA340645756 | PGM1 | c.308T>G (p.Ile103Ser) c.362T>G (p.Ile121Ser) c.-284T>G (n.-284T>G) | |
1 | g.63629487T>A | CA418207773 | PGM1 | c.309T>A (p.Ile103=) c.363T>A (p.Ile121=) c.-283T>A (n.-283T>A) | |
1 | g.63629487T>C | CA418207770 | PGM1 | c.309T>C (p.Ile103=) c.363T>C (p.Ile121=) c.-283T>C (n.-283T>C) | gnomAD v4 |
1 | g.63629487T>G | CA340645758 | PGM1 | c.309T>G (p.Ile103Met) c.363T>G (p.Ile121Met) c.-283T>G (n.-283T>G) | gnomAD v4 |
1 | g.63629488A>C | CA418207776 | PGM1 | c.310A>C (p.Arg104=) c.364A>C (p.Arg122=) c.-282A>C (n.-282A>C) | |
1 | g.63629488A>G | CA340645761 | PGM1 | c.310A>G (p.Arg104Gly) c.364A>G (p.Arg122Gly) c.-282A>G (n.-282A>G) | |
1 | g.63629488A>T | CA340645767 | PGM1 | c.310A>T (p.Arg104Ter) c.364A>T (p.Arg122Ter) c.-282A>T (n.-282A>T) | |
1 | g.63629489G>A | CA340645774 | PGM1 | c.311G>A (p.Arg104Lys) c.365G>A (p.Arg122Lys) c.-281G>A (n.-281G>A) | |
1 | g.63629489G>C | CA340645777 | PGM1 | c.311G>C (p.Arg104Thr) c.365G>C (p.Arg122Thr) c.-281G>C (n.-281G>C) | |
1 | g.63629489G= | CA1171571098 | PGM1 | c.311G= (p.Arg104=) c.365G= (p.Arg122=) c.-281G= (n.-281G=) | |
1 | g.63629489G>T | CA340645780 | PGM1 | c.311G>T (p.Arg104Ile) c.365G>T (p.Arg122Ile) c.-281G>T (n.-281G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629490A= | CA1171571099 | PGM1 | c.312A= (p.Arg104=) c.366A= (p.Arg122=) c.-280A= (n.-280A=) | |
1 | g.63629490A>C | CA340645783 | PGM1 | c.312A>C (p.Arg104Ser) c.366A>C (p.Arg122Ser) c.-280A>C (n.-280A>C) | |
1 | g.63629490A>G | CA418207785 | PGM1 | c.312A>G (p.Arg104=) c.366A>G (p.Arg122=) c.-280A>G (n.-280A>G) | |
1 | g.63629490A>T | CA889507 | PGM1 | c.312A>T (p.Arg104Ser) c.366A>T (p.Arg122Ser) c.-280A>T (n.-280A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629494dup | CA523752297 | PGM1 | c.316dup (p.Ile106AsnfsTer30) c.370dup (p.Ile124AsnfsTer30) c.-276dup (n.-276dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629491A= | CA1171571100 | PGM1 | c.313A= (p.Lys105=) c.367A= (p.Lys123=) c.-279A= (n.-279A=) | |
1 | g.63629491A>C | CA340645790 | PGM1 | c.313A>C (p.Lys105Gln) c.367A>C (p.Lys123Gln) c.-279A>C (n.-279A>C) | |
1 | g.63629491A>G | CA340645793 | PGM1 | c.313A>G (p.Lys105Glu) c.367A>G (p.Lys123Glu) c.-279A>G (n.-279A>G) | COSMIC COSMIC |
1 | g.63629491A>T | CA23832110 | PGM1 | c.313A>T (p.Lys105Ter) c.367A>T (p.Lys123Ter) c.-279A>T (n.-279A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629492A>C | CA340645797 | PGM1 | c.314A>C (p.Lys105Thr) c.368A>C (p.Lys123Thr) c.-278A>C (n.-278A>C) | |
1 | g.63629492A>G | CA340645800 | PGM1 | c.314A>G (p.Lys105Arg) c.368A>G (p.Lys123Arg) c.-278A>G (n.-278A>G) | |
1 | g.63629492A>T | CA340645812 | PGM1 | c.314A>T (p.Lys105Ile) c.368A>T (p.Lys123Ile) c.-278A>T (n.-278A>T) | |
1 | g.63629493A>C | CA340645816 | PGM1 | c.315A>C (p.Lys105Asn) c.369A>C (p.Lys123Asn) c.-277A>C (n.-277A>C) | |
1 | g.63629493A>G | CA418207797 | PGM1 | c.315A>G (p.Lys105=) c.369A>G (p.Lys123=) c.-277A>G (n.-277A>G) | |
1 | g.63629493A>T | CA340645820 | PGM1 | c.315A>T (p.Lys105Asn) c.369A>T (p.Lys123Asn) c.-277A>T (n.-277A>T) | |
1 | g.63629494A>C | CA340645824 | PGM1 | c.316A>C (p.Ile106Leu) c.370A>C (p.Ile124Leu) c.-276A>C (n.-276A>C) | |
1 | g.63629494A>G | CA340645826 | PGM1 | c.316A>G (p.Ile106Val) c.370A>G (p.Ile124Val) c.-276A>G (n.-276A>G) | |
1 | g.63629494A>T | CA340645827 | PGM1 | c.316A>T (p.Ile106Phe) c.370A>T (p.Ile124Phe) c.-276A>T (n.-276A>T) | |
1 | g.63629495T>A | CA340645830 | PGM1 | c.317T>A (p.Ile106Asn) c.371T>A (p.Ile124Asn) c.-275T>A (n.-275T>A) | |
1 | g.63629495T>C | CA340645832 | PGM1 | c.317T>C (p.Ile106Thr) c.371T>C (p.Ile124Thr) c.-275T>C (n.-275T>C) | |
1 | g.63629495T>G | CA340645844 | PGM1 | c.317T>G (p.Ile106Ser) c.371T>G (p.Ile124Ser) c.-275T>G (n.-275T>G) | |
1 | g.63629496C>A | CA418207808 | PGM1 | c.318C>A (p.Ile106=) c.372C>A (p.Ile124=) c.-274C>A (n.-274C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629496C= | CA1171571101 | PGM1 | c.318C= (p.Ile106=) c.372C= (p.Ile124=) c.-274C= (n.-274C=) | |
1 | g.63629496C>G | CA889508 | PGM1 | c.318C>G (p.Ile106Met) c.372C>G (p.Ile124Met) c.-274C>G (n.-274C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629496C>T | CA418207811 | PGM1 | c.318C>T (p.Ile106=) c.372C>T (p.Ile124=) c.-274C>T (n.-274C>T) | |
1 | g.63629497A>C | CA340645846 | PGM1 | c.319A>C (p.Lys107Gln) c.373A>C (p.Lys125Gln) c.-273A>C (n.-273A>C) | |
1 | g.63629497A>G | CA340645848 | PGM1 | c.319A>G (p.Lys107Glu) c.373A>G (p.Lys125Glu) c.-273A>G (n.-273A>G) | gnomAD v4 |
1 | g.63629497A>T | CA340645845 | PGM1 | c.319A>T (p.Lys107Ter) c.373A>T (p.Lys125Ter) c.-273A>T (n.-273A>T) | |
1 | g.63629498A= | CA1171571102 | PGM1 | c.320A= (p.Lys107=) c.374A= (p.Lys125=) c.-272A= (n.-272A=) | |
1 | g.63629498A>C | CA23832131 | PGM1 | c.320A>C (p.Lys107Thr) c.374A>C (p.Lys125Thr) c.-272A>C (n.-272A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629498A>G | CA340645853 | PGM1 | c.320A>G (p.Lys107Arg) c.374A>G (p.Lys125Arg) c.-272A>G (n.-272A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629498A>T | CA340645855 | PGM1 | c.320A>T (p.Lys107Ile) c.374A>T (p.Lys125Ile) c.-272A>T (n.-272A>T) | |
1 | g.63629499A>C | CA340645858 | PGM1 | c.321A>C (p.Lys107Asn) c.375A>C (p.Lys125Asn) c.-271A>C (n.-271A>C) | |
1 | g.63629499A>G | CA418207822 | PGM1 | c.321A>G (p.Lys107=) c.375A>G (p.Lys125=) c.-271A>G (n.-271A>G) | |
1 | g.63629499A>T | CA340645861 | PGM1 | c.321A>T (p.Lys107Asn) c.375A>T (p.Lys125Asn) c.-271A>T (n.-271A>T) | |
1 | g.63629500G>A | CA340645870 | PGM1 | c.322G>A (p.Ala108Thr) c.376G>A (p.Ala126Thr) c.-270G>A (n.-270G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629500G>C | CA340645864 | PGM1 | c.322G>C (p.Ala108Pro) c.376G>C (p.Ala126Pro) c.-270G>C (n.-270G>C) | |
1 | g.63629500G= | CA1171571103 | PGM1 | c.322G= (p.Ala108=) c.376G= (p.Ala126=) c.-270G= (n.-270G=) | |
1 | g.63629500G>T | CA340645867 | PGM1 | c.322G>T (p.Ala108Ser) c.376G>T (p.Ala126Ser) c.-270G>T (n.-270G>T) | gnomAD v4 |
1 | g.63629501C>A | CA340645878 | PGM1 | c.323C>A (p.Ala108Asp) c.377C>A (p.Ala126Asp) c.-269C>A (n.-269C>A) | |
1 | g.63629501C>G | CA340645888 | PGM1 | c.323C>G (p.Ala108Gly) c.377C>G (p.Ala126Gly) c.-269C>G (n.-269C>G) | |
1 | g.63629501C>T | CA340645893 | PGM1 | c.323C>T (p.Ala108Val) c.377C>T (p.Ala126Val) c.-269C>T (n.-269C>T) | gnomAD v4 |
1 | g.63629502C>A | CA418207832 | PGM1 | c.324C>A (p.Ala108=) c.378C>A (p.Ala126=) c.-268C>A (n.-268C>A) | |
1 | g.63629502C= | CA1171571104 | PGM1 | c.324C= (p.Ala108=) c.378C= (p.Ala126=) c.-268C= (n.-268C=) | |
1 | g.63629502C>G | CA418207834 | PGM1 | c.324C>G (p.Ala108=) c.378C>G (p.Ala126=) c.-268C>G (n.-268C>G) | |
1 | g.63629502C>T | CA418207835 | PGM1 | c.324C>T (p.Ala108=) c.378C>T (p.Ala126=) c.-268C>T (n.-268C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629503A= | CA1148298893 | PGM1 | c.325A= (p.Ile109=) c.379A= (p.Ile127=) c.-267A= (n.-267A=) | |
1 | g.63629503A>C | CA340645897 | PGM1 | c.325A>C (p.Ile109Leu) c.379A>C (p.Ile127Leu) c.-267A>C (n.-267A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629503A>G | CA889509 | PGM1 | c.325A>G (p.Ile109Val) c.379A>G (p.Ile127Val) c.-267A>G (n.-267A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629503A>T | CA340645902 | PGM1 | c.325A>T (p.Ile109Phe) c.379A>T (p.Ile127Phe) c.-267A>T (n.-267A>T) | |
1 | g.63629504T>A | CA340645912 | PGM1 | c.326T>A (p.Ile109Asn) c.380T>A (p.Ile127Asn) c.-266T>A (n.-266T>A) | |
1 | g.63629504T>C | CA340645908 | PGM1 | c.326T>C (p.Ile109Thr) c.380T>C (p.Ile127Thr) c.-266T>C (n.-266T>C) | ClinVar gnomAD v4 |
1 | g.63629504T>G | CA340645906 | PGM1 | c.326T>G (p.Ile109Ser) c.380T>G (p.Ile127Ser) c.-266T>G (n.-266T>G) | |
1 | g.63629505T>A | CA418207847 | PGM1 | c.327T>A (p.Ile109=) c.381T>A (p.Ile127=) c.-265T>A (n.-265T>A) | |
1 | g.63629505T>C | CA889510 | PGM1 | c.327T>C (p.Ile109=) c.381T>C (p.Ile127=) c.-265T>C (n.-265T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629505T>G | CA340645915 | PGM1 | c.327T>G (p.Ile109Met) c.381T>G (p.Ile127Met) c.-265T>G (n.-265T>G) | |
1 | g.63629505T= | CA1171571105 | PGM1 | c.327T= (p.Ile109=) c.381T= (p.Ile127=) c.-265T= (n.-265T=) | |
1 | g.63629506G>A | CA340645917 | PGM1 | c.328G>A (p.Gly110Ser) c.382G>A (p.Gly128Ser) c.-264G>A (n.-264G>A) | |
1 | g.63629506G>C | CA340645918 | PGM1 | c.328G>C (p.Gly110Arg) c.382G>C (p.Gly128Arg) c.-264G>C (n.-264G>C) | gnomAD v4 |
1 | g.63629506G>T | CA340645919 | PGM1 | c.328G>T (p.Gly110Cys) c.382G>T (p.Gly128Cys) c.-264G>T (n.-264G>T) | |
1 | g.63629507G>A | CA340645921 | PGM1 | c.329G>A (p.Gly110Asp) c.383G>A (p.Gly128Asp) c.-263G>A (n.-263G>A) | |
1 | g.63629507G>C | CA340645924 | PGM1 | c.329G>C (p.Gly110Ala) c.383G>C (p.Gly128Ala) c.-263G>C (n.-263G>C) | |
1 | g.63629507G>T | CA340645935 | PGM1 | c.329G>T (p.Gly110Val) c.383G>T (p.Gly128Val) c.-263G>T (n.-263G>T) | |
1 | g.63629508T>A | CA418207859 | PGM1 | c.330T>A (p.Gly110=) c.384T>A (p.Gly128=) c.-262T>A (n.-262T>A) | |
1 | g.63629508T>C | CA418207861 | PGM1 | c.330T>C (p.Gly110=) c.384T>C (p.Gly128=) c.-262T>C (n.-262T>C) | |
1 | g.63629508T>G | CA418207863 | PGM1 | c.330T>G (p.Gly110=) c.384T>G (p.Gly128=) c.-262T>G (n.-262T>G) | |
1 | g.63629509G>A | CA340645938 | PGM1 | c.331G>A (p.Gly111Arg) c.385G>A (p.Gly129Arg) c.-261G>A (n.-261G>A) | |
1 | g.63629509G>C | CA340645940 | PGM1 | c.331G>C (p.Gly111Arg) c.385G>C (p.Gly129Arg) c.-261G>C (n.-261G>C) | |
1 | g.63629509G>T | CA340645945 | PGM1 | c.331G>T (p.Gly111Trp) c.385G>T (p.Gly129Trp) c.-261G>T (n.-261G>T) | |
1 | g.63629510G>A | CA340645947 | PGM1 | c.332G>A (p.Gly111Glu) c.386G>A (p.Gly129Glu) c.-260G>A (n.-260G>A) | gnomAD v4 |
1 | g.63629510G>C | CA340645949 | PGM1 | c.332G>C (p.Gly111Ala) c.386G>C (p.Gly129Ala) c.-260G>C (n.-260G>C) | |
1 | g.63629510G>T | CA340645957 | PGM1 | c.332G>T (p.Gly111Val) c.386G>T (p.Gly129Val) c.-260G>T (n.-260G>T) | |
1 | g.63629511G>A | CA418207871 | PGM1 | c.333G>A (p.Gly111=) c.387G>A (p.Gly129=) c.-259G>A (n.-259G>A) | |
1 | g.63629511G>C | CA418207872 | PGM1 | c.333G>C (p.Gly111=) c.387G>C (p.Gly129=) c.-259G>C (n.-259G>C) | |
1 | g.63629511G>T | CA418207874 | PGM1 | c.333G>T (p.Gly111=) c.387G>T (p.Gly129=) c.-259G>T (n.-259G>T) | |
1 | g.63629512A= | CA1171571106 | PGM1 | c.334A= (p.Ile112=) c.388A= (p.Ile130=) c.-258A= (n.-258A=) | |
1 | g.63629512A>C | CA340645968 | PGM1 | c.334A>C (p.Ile112Leu) c.388A>C (p.Ile130Leu) c.-258A>C (n.-258A>C) | |
1 | g.63629512A>G | CA23832142 | PGM1 | c.334A>G (p.Ile112Val) c.388A>G (p.Ile130Val) c.-258A>G (n.-258A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629512A>T | CA340645963 | PGM1 | c.334A>T (p.Ile112Phe) c.388A>T (p.Ile130Phe) c.-258A>T (n.-258A>T) | |
1 | g.63629513T>A | CA340645973 | PGM1 | c.335T>A (p.Ile112Asn) c.389T>A (p.Ile130Asn) c.-257T>A (n.-257T>A) | |
1 | g.63629513T>C | CA340645978 | PGM1 | c.335T>C (p.Ile112Thr) c.389T>C (p.Ile130Thr) c.-257T>C (n.-257T>C) | |
1 | g.63629513T>G | CA340645987 | PGM1 | c.335T>G (p.Ile112Ser) c.389T>G (p.Ile130Ser) c.-257T>G (n.-257T>G) | |
1 | g.63629514C>A | CA418207885 | PGM1 | c.336C>A (p.Ile112=) c.390C>A (p.Ile130=) c.-256C>A (n.-256C>A) | |
1 | g.63629514C= | CA1171571107 | PGM1 | c.336C= (p.Ile112=) c.390C= (p.Ile130=) c.-256C= (n.-256C=) | |
1 | g.63629514C>G | CA340645989 | PGM1 | c.336C>G (p.Ile112Met) c.390C>G (p.Ile130Met) c.-256C>G (n.-256C>G) | |
1 | g.63629514C>T | CA889511 | PGM1 | c.336C>T (p.Ile112=) c.390C>T (p.Ile130=) c.-256C>T (n.-256C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.63629515A>C | CA340645992 | PGM1 | c.337A>C (p.Ile113Leu) c.391A>C (p.Ile131Leu) c.-255A>C (n.-255A>C) | |
1 | g.63629515A>G | CA340645994 | PGM1 | c.337A>G (p.Ile113Val) c.391A>G (p.Ile131Val) c.-255A>G (n.-255A>G) | |
1 | g.63629515A>T | CA340645995 | PGM1 | c.337A>T (p.Ile113Phe) c.391A>T (p.Ile131Phe) c.-255A>T (n.-255A>T) | COSMIC COSMIC |
1 | g.63629515dup | CA2574393426 | PGM1 | c.337dup (p.Ile113AsnfsTer23) c.391dup (p.Ile131AsnfsTer23) c.-255dup (n.-255dup) | gnomAD v4 |
1 | g.63629516T>A | CA340645999 | PGM1 | c.338T>A (p.Ile113Asn) c.392T>A (p.Ile131Asn) c.-254T>A (n.-254T>A) | |
1 | g.63629516T>C | CA340646005 | PGM1 | c.338T>C (p.Ile113Thr) c.392T>C (p.Ile131Thr) c.-254T>C (n.-254T>C) | dbSNP |
1 | g.63629516T>G | CA340646008 | PGM1 | c.338T>G (p.Ile113Ser) c.392T>G (p.Ile131Ser) c.-254T>G (n.-254T>G) | |
1 | g.63629516T= | CA1171571108 | PGM1 | c.338T= (p.Ile113=) c.392T= (p.Ile131=) c.-254T= (n.-254T=) | |
1 | g.63629517T>A | CA418207896 | PGM1 | c.339T>A (p.Ile113=) c.393T>A (p.Ile131=) c.-253T>A (n.-253T>A) | |
1 | g.63629517T>C | CA418207898 | PGM1 | c.339T>C (p.Ile113=) c.393T>C (p.Ile131=) c.-253T>C (n.-253T>C) | dbSNP |
1 | g.63629517T>G | CA340646009 | PGM1 | c.339T>G (p.Ile113Met) c.393T>G (p.Ile131Met) c.-253T>G (n.-253T>G) | |
1 | g.63629517T= | CA1171571109 | PGM1 | c.339T= (p.Ile113=) c.393T= (p.Ile131=) c.-253T= (n.-253T=) | |
1 | g.63629518C>A | CA889512 | PGM1 | c.340C>A (p.Leu114Met) c.394C>A (p.Leu132Met) c.-252C>A (n.-252C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629518C= | CA1171571110 | PGM1 | c.340C= (p.Leu114=) c.394C= (p.Leu132=) c.-252C= (n.-252C=) | |
1 | g.63629518C>G | CA889513 | PGM1 | c.340C>G (p.Leu114Val) c.394C>G (p.Leu132Val) c.-252C>G (n.-252C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629518C>T | CA418207903 | PGM1 | c.340C>T (p.Leu114=) c.394C>T (p.Leu132=) c.-252C>T (n.-252C>T) | gnomAD v4 |
1 | g.63629519T>A | CA340646018 | PGM1 | c.341T>A (p.Leu114Gln) c.395T>A (p.Leu132Gln) c.-251T>A (n.-251T>A) | |
1 | g.63629519T>C | CA340646021 | PGM1 | c.341T>C (p.Leu114Pro) c.395T>C (p.Leu132Pro) c.-251T>C (n.-251T>C) | dbSNP gnomAD v4 |
1 | g.63629519T>G | CA340646015 | PGM1 | c.341T>G (p.Leu114Arg) c.395T>G (p.Leu132Arg) c.-251T>G (n.-251T>G) | |
1 | g.63629519T= | CA1171571111 | PGM1 | c.341T= (p.Leu114=) c.395T= (p.Leu132=) c.-251T= (n.-251T=) | |
1 | g.63629520G>A | CA418207910 | PGM1 | c.342G>A (p.Leu114=) c.396G>A (p.Leu132=) c.-250G>A (n.-250G>A) | |
1 | g.63629520G>C | CA418207914 | PGM1 | c.342G>C (p.Leu114=) c.396G>C (p.Leu132=) c.-250G>C (n.-250G>C) | |
1 | g.63629520G>T | CA418207915 | PGM1 | c.342G>T (p.Leu114=) c.396G>T (p.Leu132=) c.-250G>T (n.-250G>T) | |
1 | g.63629521A= | CA1141580822 | PGM1 | c.343A= (p.Thr115=) c.397A= (p.Thr133=) c.-249A= (n.-249A=) | |
1 | g.63629521A>C | CA340646025 | PGM1 | c.343A>C (p.Thr115Pro) c.397A>C (p.Thr133Pro) c.-249A>C (n.-249A>C) | dbSNP |
1 | g.63629521A>G | CA123324 | PGM1 | c.343A>G (p.Thr115Ala) c.397A>G (p.Thr133Ala) c.-249A>G (n.-249A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629521A>T | CA340646032 | PGM1 | c.343A>T (p.Thr115Ser) c.397A>T (p.Thr133Ser) c.-249A>T (n.-249A>T) | |
1 | g.63629522C>A | CA340646036 | PGM1 | c.344C>A (p.Thr115Lys) c.398C>A (p.Thr133Lys) c.-248C>A (n.-248C>A) | |
1 | g.63629522C>G | CA340646044 | PGM1 | c.344C>G (p.Thr115Arg) c.398C>G (p.Thr133Arg) c.-248C>G (n.-248C>G) | |
1 | g.63629522C>T | CA340646045 | PGM1 | c.344C>T (p.Thr115Ile) c.398C>T (p.Thr133Ile) c.-248C>T (n.-248C>T) | |
1 | g.63629523A= | CA1171571112 | PGM1 | c.345A= (p.Thr115=) c.399A= (p.Thr133=) c.-247A= (n.-247A=) | |
1 | g.63629523A>C | CA418207925 | PGM1 | c.345A>C (p.Thr115=) c.399A>C (p.Thr133=) c.-247A>C (n.-247A>C) | |
1 | g.63629523A>G | CA418207928 | PGM1 | c.345A>G (p.Thr115=) c.399A>G (p.Thr133=) c.-247A>G (n.-247A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629523A>T | CA418207930 | PGM1 | c.345A>T (p.Thr115=) c.399A>T (p.Thr133=) c.-247A>T (n.-247A>T) | |
1 | g.63629524G>A | CA340646048 | PGM1 | c.346G>A (p.Ala116Thr) c.400G>A (p.Ala134Thr) c.-246G>A (n.-246G>A) | COSMIC |
1 | g.63629524G>C | CA340646051 | PGM1 | c.346G>C (p.Ala116Pro) c.400G>C (p.Ala134Pro) c.-246G>C (n.-246G>C) | |
1 | g.63629524G>T | CA340646054 | PGM1 | c.346G>T (p.Ala116Ser) c.400G>T (p.Ala134Ser) c.-246G>T (n.-246G>T) | |
1 | g.63629525C>A | CA340646064 | PGM1 | c.347C>A (p.Ala116Asp) c.401C>A (p.Ala134Asp) c.-245C>A (n.-245C>A) | |
1 | g.63629525C= | CA1143972739 | PGM1 | c.347C= (p.Ala116=) c.401C= (p.Ala134=) c.-245C= (n.-245C=) | |
1 | g.63629525C>G | CA23832149 | PGM1 | c.347C>G (p.Ala116Gly) c.401C>G (p.Ala134Gly) c.-245C>G (n.-245C>G) | dbSNP gnomAD v4 |
1 | g.63629525C>T | CA340646067 | PGM1 | c.347C>T (p.Ala116Val) c.401C>T (p.Ala134Val) c.-245C>T (n.-245C>T) | gnomAD v4 |
1 | g.63629526C>A | CA418207938 | PGM1 | c.348C>A (p.Ala116=) c.402C>A (p.Ala134=) c.-244C>A (n.-244C>A) | |
1 | g.63629526C= | CA1171571113 | PGM1 | c.348C= (p.Ala116=) c.402C= (p.Ala134=) c.-244C= (n.-244C=) | |
1 | g.63629526C>G | CA418207942 | PGM1 | c.348C>G (p.Ala116=) c.402C>G (p.Ala134=) c.-244C>G (n.-244C>G) | |
1 | g.63629526C>T | CA418207940 | PGM1 | c.348C>T (p.Ala116=) c.402C>T (p.Ala134=) c.-244C>T (n.-244C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629527A= | CA1171571114 | PGM1 | c.349A= (p.Ser117=) c.403A= (p.Ser135=) c.-243A= (n.-243A=) | |
1 | g.63629527A>C | CA340646074 | PGM1 | c.349A>C (p.Ser117Arg) c.403A>C (p.Ser135Arg) c.-243A>C (n.-243A>C) | |
1 | g.63629527A>G | CA340646072 | PGM1 | c.349A>G (p.Ser117Gly) c.403A>G (p.Ser135Gly) c.-243A>G (n.-243A>G) | dbSNP |
1 | g.63629527A>T | CA340646069 | PGM1 | c.349A>T (p.Ser117Cys) c.403A>T (p.Ser135Cys) c.-243A>T (n.-243A>T) | |
1 | g.63629528G>A | CA340646077 | PGM1 | c.350G>A (p.Ser117Asn) c.404G>A (p.Ser135Asn) c.-242G>A (n.-242G>A) | gnomAD v4 |
1 | g.63629528G>C | CA340646083 | PGM1 | c.350G>C (p.Ser117Thr) c.404G>C (p.Ser135Thr) c.-242G>C (n.-242G>C) | gnomAD v4 |
1 | g.63629528G>T | CA340646086 | PGM1 | c.350G>T (p.Ser117Ile) c.404G>T (p.Ser135Ile) c.-242G>T (n.-242G>T) | |
1 | g.63629529T>A | CA340646087 | PGM1 | c.351T>A (p.Ser117Arg) c.405T>A (p.Ser135Arg) c.-241T>A (n.-241T>A) | |
1 | g.63629529T>C | CA418207949 | PGM1 | c.351T>C (p.Ser117=) c.405T>C (p.Ser135=) c.-241T>C (n.-241T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629529T>G | CA340646089 | PGM1 | c.351T>G (p.Ser117Arg) c.405T>G (p.Ser135Arg) c.-241T>G (n.-241T>G) | |
1 | g.63629529T= | CA1171571115 | PGM1 | c.351T= (p.Ser117=) c.405T= (p.Ser135=) c.-241T= (n.-241T=) | |
1 | g.63629530C>A | CA340646092 | PGM1 | c.352C>A (p.His118Asn) c.406C>A (p.His136Asn) c.-240C>A (n.-240C>A) | |
1 | g.63629530C>G | CA340646094 | PGM1 | c.352C>G (p.His118Asp) c.406C>G (p.His136Asp) c.-240C>G (n.-240C>G) | |
1 | g.63629530C>T | CA340646095 | PGM1 | c.352C>T (p.His118Tyr) c.406C>T (p.His136Tyr) c.-240C>T (n.-240C>T) | |
1 | g.63629532_63629533dup | CA2646028484 | PGM1 | c.354_355dup (p.Asn119ThrfsTer26) c.408_409dup (p.Asn137ThrfsTer26) c.-238_-237dup (n.-238_-237dup) | gnomAD v4 |
1 | g.63629532_63629533del | CA2574393427 | PGM1 | c.354_355del (p.His118GlnfsTer17) c.408_409del (p.His136GlnfsTer17) c.-238_-237del (n.-238_-237del) | |
1 | g.63629531A>C | CA340646098 | PGM1 | c.353A>C (p.His118Pro) c.407A>C (p.His136Pro) c.-239A>C (n.-239A>C) | |
1 | g.63629531A>G | CA340646099 | PGM1 | c.353A>G (p.His118Arg) c.407A>G (p.His136Arg) c.-239A>G (n.-239A>G) | |
1 | g.63629531A>T | CA340646100 | PGM1 | c.353A>T (p.His118Leu) c.407A>T (p.His136Leu) c.-239A>T (n.-239A>T) | |
1 | g.63629532C>A | CA340646101 | PGM1 | c.354C>A (p.His118Gln) c.408C>A (p.His136Gln) c.-238C>A (n.-238C>A) | |
1 | g.63629532C>G | CA340646102 | PGM1 | c.354C>G (p.His118Gln) c.408C>G (p.His136Gln) c.-238C>G (n.-238C>G) | |
1 | g.63629532C>T | CA418207965 | PGM1 | c.354C>T (p.His118=) c.408C>T (p.His136=) c.-238C>T (n.-238C>T) | gnomAD v4 |
1 | g.63629533A>C | CA340646107 | PGM1 | c.355A>C (p.Asn119His) c.409A>C (p.Asn137His) c.-237A>C (n.-237A>C) | |
1 | g.63629533A>G | CA340646105 | PGM1 | c.355A>G (p.Asn119Asp) c.409A>G (p.Asn137Asp) c.-237A>G (n.-237A>G) | |
1 | g.63629533A>T | CA340646103 | PGM1 | c.355A>T (p.Asn119Tyr) c.409A>T (p.Asn137Tyr) c.-237A>T (n.-237A>T) | |
1 | g.63629534A= | CA1171571116 | PGM1 | c.356A= (p.Asn119=) c.410A= (p.Asn137=) c.-236A= (n.-236A=) | |
1 | g.63629534A>C | CA340646109 | PGM1 | c.356A>C (p.Asn119Thr) c.410A>C (p.Asn137Thr) c.-236A>C (n.-236A>C) | |
1 | g.63629534A>G | CA340646115 | PGM1 | c.356A>G (p.Asn119Ser) c.410A>G (p.Asn137Ser) c.-236A>G (n.-236A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629534A>T | CA340646112 | PGM1 | c.356A>T (p.Asn119Ile) c.410A>T (p.Asn137Ile) c.-236A>T (n.-236A>T) | |
1 | g.63629535C>A | CA340646117 | PGM1 | c.357C>A (p.Asn119Lys) c.411C>A (p.Asn137Lys) c.-235C>A (n.-235C>A) | gnomAD v4 |
1 | g.63629535C= | CA1147981165 | PGM1 | c.357C= (p.Asn119=) c.411C= (p.Asn137=) c.-235C= (n.-235C=) | |
1 | g.63629535C>G | CA340646124 | PGM1 | c.357C>G (p.Asn119Lys) c.411C>G (p.Asn137Lys) c.-235C>G (n.-235C>G) | |
1 | g.63629535C>T | CA889514 | PGM1 | c.357C>T (p.Asn119=) c.411C>T (p.Asn137=) c.-235C>T (n.-235C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |