| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23250619T>A | CA2622326933 | SGCG | c.298-11T>A (n.298-11T>A) c.352-11T>A (n.352-11T>A) | gnomAD v4 |
| 13 | g.23250619T>C | CA2622326934 | SGCG | c.298-11T>C (n.298-11T>C) c.352-11T>C (n.352-11T>C) | gnomAD v4 |
| 13 | g.23250620C>A | CA2622326935 | SGCG | c.298-10C>A (n.298-10C>A) c.352-10C>A (n.352-10C>A) | gnomAD v4 |
| 13 | g.23250620C= | CA2078590962 | SGCG | c.298-10C= (n.298-10C=) c.352-10C= (n.352-10C=) | |
| 13 | g.23250620C>G | CA954039915 | SGCG | c.298-10C>G (n.298-10C>G) c.352-10C>G (n.352-10C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250621T>C | CA2622326936 | SGCG | c.298-9T>C (n.298-9T>C) c.352-9T>C (n.352-9T>C) | dbSNP gnomAD v4 |
| 13 | g.23250622C>A | CA2622326937 | SGCG | c.298-8C>A (n.298-8C>A) c.352-8C>A (n.352-8C>A) | gnomAD v4 |
| 13 | g.23250622C>T | CA645584204 | SGCG | c.298-8C>T (n.298-8C>T) c.352-8C>T (n.352-8C>T) | ClinVar COSMIC |
| 13 | g.23250624T>C | CA2622326938 | SGCG | c.298-6T>C (n.298-6T>C) c.352-6T>C (n.352-6T>C) | gnomAD v4 |
| 13 | g.23250625T>C | CA6909635 | SGCG | c.298-5T>C (n.298-5T>C) c.352-5T>C (n.352-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250625T= | CA2078590963 | SGCG | c.298-5T= (n.298-5T=) c.352-5T= (n.352-5T=) | |
| 13 | g.23250626C>A | CA2622326939 | SGCG | c.298-4C>A (n.298-4C>A) c.352-4C>A (n.352-4C>A) | gnomAD v4 |
| 13 | g.23250627T>A | CA2622326940 | SGCG | c.298-3T>A (n.298-3T>A) c.352-3T>A (n.352-3T>A) | gnomAD v4 |
| 13 | g.23250627T>C | CA696636072 | SGCG | c.298-3T>C (n.298-3T>C) c.352-3T>C (n.352-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250627T= | CA2078590964 | SGCG | c.298-3T= (n.298-3T=) c.352-3T= (n.352-3T=) | |
| 13 | g.23250628del | CA2575388458 | SGCG | c.298-2del (n.298-2del) c.352-2del (n.352-2del) | |
| 13 | g.23250628A= | CA2078590965 | SGCG | c.298-2A= (n.298-2A=) c.352-2A= (n.352-2A=) | |
| 13 | g.23250628A>C | CA387501515 | SGCG | c.298-2A>C (n.298-2A>C) c.352-2A>C (n.352-2A>C) | ClinVar dbSNP |
| 13 | g.23250628A>G | CA387501516 | SGCG | c.298-2A>G (n.298-2A>G) c.352-2A>G (n.352-2A>G) | ClinVar gnomAD v4 COSMIC |
| 13 | g.23250628A>T | CA387501517 | SGCG | c.298-2A>T (n.298-2A>T) c.352-2A>T (n.352-2A>T) | |
| 13 | g.23250629G>A | CA387501518 | SGCG | c.298-1G>A (n.298-1G>A) c.352-1G>A (n.352-1G>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23250629G>C | CA387501519 | SGCG | c.298-1G>C (n.298-1G>C) c.352-1G>C (n.352-1G>C) | |
| 13 | g.23250629G= | CA2078590966 | SGCG | c.298-1G= (n.298-1G=) c.352-1G= (n.352-1G=) | |
| 13 | g.23250629G>T | CA246628456 | SGCG | c.298-1G>T (n.298-1G>T) c.352-1G>T (n.352-1G>T) | dbSNP |
| 13 | g.23250630G>A | CA387501520 | SGCG | c.298G>A (p.Asp100Asn) c.352G>A (p.Asp118Asn) | |
| 13 | g.23250630G>C | CA387501521 | SGCG | c.298G>C (p.Asp100His) c.352G>C (p.Asp118His) | |
| 13 | g.23250630G>T | CA387501522 | SGCG | c.298G>T (p.Asp100Tyr) c.352G>T (p.Asp118Tyr) | |
| 13 | g.23250631A>C | CA387501523 | SGCG | c.299A>C (p.Asp100Ala) c.353A>C (p.Asp118Ala) | |
| 13 | g.23250631A>G | CA387501524 | SGCG | c.299A>G (p.Asp100Gly) c.353A>G (p.Asp118Gly) | gnomAD v4 |
| 13 | g.23250631A>T | CA387501525 | SGCG | c.299A>T (p.Asp100Val) c.353A>T (p.Asp118Val) | |
| 13 | g.23250632C>A | CA387501526 | SGCG | c.300C>A (p.Asp100Glu) c.354C>A (p.Asp118Glu) | gnomAD v4 |
| 13 | g.23250632C>G | CA387501527 | SGCG | c.300C>G (p.Asp100Glu) c.354C>G (p.Asp118Glu) | |
| 13 | g.23250632C>T | CA482918373 | SGCG | c.300C>T (p.Asp100=) c.354C>T (p.Asp118=) | ClinVar dbSNP |
| 13 | g.23250633T>A | CA387501528 | SGCG | c.301T>A (p.Ser101Thr) c.355T>A (p.Ser119Thr) | COSMIC |
| 13 | g.23250633T>C | CA387501530 | SGCG | c.301T>C (p.Ser101Pro) c.355T>C (p.Ser119Pro) | gnomAD v4 |
| 13 | g.23250633T>G | CA387501529 | SGCG | c.301T>G (p.Ser101Ala) c.355T>G (p.Ser119Ala) | gnomAD v4 |
| 13 | g.23250634C>A | CA387501531 | SGCG | c.302C>A (p.Ser101Ter) c.356C>A (p.Ser119Ter) | ClinVar gnomAD v4 |
| 13 | g.23250634C= | CA2078590967 | SGCG | c.302C= (p.Ser101=) c.356C= (p.Ser119=) | |
| 13 | g.23250634C>G | CA387501532 | SGCG | c.302C>G (p.Ser101Ter) c.356C>G (p.Ser119Ter) | |
| 13 | g.23250634C>T | CA10604135 | SGCG | c.302C>T (p.Ser101Leu) c.356C>T (p.Ser119Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250635A= | CA2078590968 | SGCG | c.303A= (p.Ser101=) c.357A= (p.Ser119=) | |
| 13 | g.23250635A>C | CA6909636 | SGCG | c.303A>C (p.Ser101=) c.357A>C (p.Ser119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250635A>G | CA482918374 | SGCG | c.303A>G (p.Ser101=) c.357A>G (p.Ser119=) | |
| 13 | g.23250635A>T | CA482918375 | SGCG | c.303A>T (p.Ser101=) c.357A>T (p.Ser119=) | |
| 13 | g.23250636T>A | CA387501533 | SGCG | c.304T>A (p.Ser102Thr) c.358T>A (p.Ser120Thr) | |
| 13 | g.23250636T>C | CA6909637 | SGCG | c.304T>C (p.Ser102Pro) c.358T>C (p.Ser120Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250636T>G | CA387501534 | SGCG | c.304T>G (p.Ser102Ala) c.358T>G (p.Ser120Ala) | |
| 13 | g.23250636T= | CA2078590969 | SGCG | c.304T= (p.Ser102=) c.358T= (p.Ser120=) | |
| 13 | g.23250637C>A | CA387501535 | SGCG | c.305C>A (p.Ser102Tyr) c.359C>A (p.Ser120Tyr) | dbSNP gnomAD v4 COSMIC |
| 13 | g.23250637C= | CA2078590970 | SGCG | c.305C= (p.Ser102=) c.359C= (p.Ser120=) | |
| 13 | g.23250637C>G | CA387501536 | SGCG | c.305C>G (p.Ser102Cys) c.359C>G (p.Ser120Cys) | |
| 13 | g.23250637C>T | CA387501537 | SGCG | c.305C>T (p.Ser102Phe) c.359C>T (p.Ser120Phe) | |
| 13 | g.23250638T>A | CA482918376 | SGCG | c.306T>A (p.Ser102=) c.360T>A (p.Ser120=) | |
| 13 | g.23250638T>C | CA482918378 | SGCG | c.306T>C (p.Ser102=) c.360T>C (p.Ser120=) | |
| 13 | g.23250638T>G | CA482918377 | SGCG | c.306T>G (p.Ser102=) c.360T>G (p.Ser120=) | |
| 13 | g.23250639C>A | CA387501538 | SGCG | c.307C>A (p.Leu103Met) c.361C>A (p.Leu121Met) | gnomAD v4 COSMIC |
| 13 | g.23250639C= | CA2078590971 | SGCG | c.307C= (p.Leu103=) c.361C= (p.Leu121=) | |
| 13 | g.23250639C>G | CA6909638 | SGCG | c.307C>G (p.Leu103Val) c.361C>G (p.Leu121Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250639C>T | CA482918379 | SGCG | c.307C>T (p.Leu103=) c.361C>T (p.Leu121=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250640T>A | CA387501541 | SGCG | c.308T>A (p.Leu103Gln) c.362T>A (p.Leu121Gln) | |
| 13 | g.23250640T>C | CA387501539 | SGCG | c.308T>C (p.Leu103Pro) c.362T>C (p.Leu121Pro) | |
| 13 | g.23250640T>G | CA387501540 | SGCG | c.308T>G (p.Leu103Arg) c.362T>G (p.Leu121Arg) | |
| 13 | g.23250641G>A | CA482918380 | SGCG | c.309G>A (p.Leu103=) c.363G>A (p.Leu121=) | COSMIC |
| 13 | g.23250641G>C | CA482918381 | SGCG | c.309G>C (p.Leu103=) c.363G>C (p.Leu121=) | |
| 13 | g.23250641G>T | CA482918382 | SGCG | c.309G>T (p.Leu103=) c.363G>T (p.Leu121=) | |
| 13 | g.23250642C>A | CA246628516 | SGCG | c.310C>A (p.Leu104Ile) c.364C>A (p.Leu122Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250642C= | CA2078590972 | SGCG | c.310C= (p.Leu104=) c.364C= (p.Leu122=) | |
| 13 | g.23250642C>G | CA387501542 | SGCG | c.310C>G (p.Leu104Val) c.364C>G (p.Leu122Val) | |
| 13 | g.23250642C>T | CA387501543 | SGCG | c.310C>T (p.Leu104Phe) c.364C>T (p.Leu122Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250644_23250646del | CA2622326941 | SGCG | c.312_314del (p.Leu105del) c.366_368del (p.Leu123del) | gnomAD v4 |
| 13 | g.23250643T>A | CA387501544 | SGCG | c.311T>A (p.Leu104His) c.365T>A (p.Leu122His) | |
| 13 | g.23250643T>C | CA387501545 | SGCG | c.311T>C (p.Leu104Pro) c.365T>C (p.Leu122Pro) | |
| 13 | g.23250643T>G | CA387501546 | SGCG | c.311T>G (p.Leu104Arg) c.365T>G (p.Leu122Arg) | |
| 13 | g.23250644T>A | CA482918385 | SGCG | c.312T>A (p.Leu104=) c.366T>A (p.Leu122=) | gnomAD v4 |
| 13 | g.23250644T>C | CA482918386 | SGCG | c.312T>C (p.Leu104=) c.366T>C (p.Leu122=) | ClinVar |
| 13 | g.23250644T>G | CA145900 | SGCG | c.312T>G (p.Leu104=) c.366T>G (p.Leu122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250644T= | CA2018046957 | SGCG | c.312T= (p.Leu104=) c.366T= (p.Leu122=) | |
| 13 | g.23250645C>A | CA387501547 | SGCG | c.313C>A (p.Leu105Ile) c.367C>A (p.Leu123Ile) | gnomAD v4 |
| 13 | g.23250645C>G | CA387501548 | SGCG | c.313C>G (p.Leu105Val) c.367C>G (p.Leu123Val) | |
| 13 | g.23250645C>T | CA482918387 | SGCG | c.313C>T (p.Leu105=) c.367C>T (p.Leu123=) | |
| 13 | g.23250646T>A | CA387501549 | SGCG | c.314T>A (p.Leu105Gln) c.368T>A (p.Leu123Gln) | |
| 13 | g.23250646T>C | CA387501550 | SGCG | c.314T>C (p.Leu105Pro) c.368T>C (p.Leu123Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250646T>G | CA387501551 | SGCG | c.314T>G (p.Leu105Arg) c.368T>G (p.Leu123Arg) | |
| 13 | g.23250646T= | CA2078590973 | SGCG | c.314T= (p.Leu105=) c.368T= (p.Leu123=) | |
| 13 | g.23250647A= | CA2078590974 | SGCG | c.315A= (p.Leu105=) c.369A= (p.Leu123=) | |
| 13 | g.23250647A>C | CA482918389 | SGCG | c.315A>C (p.Leu105=) c.369A>C (p.Leu123=) | |
| 13 | g.23250647A>G | CA6909639 | SGCG | c.315A>G (p.Leu105=) c.369A>G (p.Leu123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250647A>T | CA482918388 | SGCG | c.315A>T (p.Leu105=) c.369A>T (p.Leu123=) | |
| 13 | g.23250648C>A | CA387501554 | SGCG | c.316C>A (p.Gln106Lys) c.370C>A (p.Gln124Lys) | gnomAD v4 |
| 13 | g.23250648C= | CA2078590975 | SGCG | c.316C= (p.Gln106=) c.370C= (p.Gln124=) | |
| 13 | g.23250648C>G | CA387501552 | SGCG | c.316C>G (p.Gln106Glu) c.370C>G (p.Gln124Glu) | gnomAD v4 |
| 13 | g.23250648C>T | CA387501553 | SGCG | c.316C>T (p.Gln106Ter) c.370C>T (p.Gln124Ter) | dbSNP |
| 13 | g.23250649A>C | CA387501555 | SGCG | c.317A>C (p.Gln106Pro) c.371A>C (p.Gln124Pro) | ClinVar dbSNP |
| 13 | g.23250649A>G | CA387501556 | SGCG | c.317A>G (p.Gln106Arg) c.371A>G (p.Gln124Arg) | |
| 13 | g.23250649A>T | CA387501557 | SGCG | c.317A>T (p.Gln106Leu) c.371A>T (p.Gln124Leu) | |
| 13 | g.23250650A= | CA2078590976 | SGCG | c.318A= (p.Gln106=) c.372A= (p.Gln124=) | |
| 13 | g.23250650A>C | CA387501558 | SGCG | c.318A>C (p.Gln106His) c.372A>C (p.Gln124His) | |
| 13 | g.23250650A>G | CA6909640 | SGCG | c.318A>G (p.Gln106=) c.372A>G (p.Gln124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250650A>T | CA387501559 | SGCG | c.318A>T (p.Gln106His) c.372A>T (p.Gln124His) | |
| 13 | g.23250651T>A | CA387501560 | SGCG | c.319T>A (p.Ser107Thr) c.373T>A (p.Ser125Thr) | |
| 13 | g.23250651T>C | CA387501561 | SGCG | c.319T>C (p.Ser107Pro) c.373T>C (p.Ser125Pro) | |
| 13 | g.23250651T>G | CA387501562 | SGCG | c.319T>G (p.Ser107Ala) c.373T>G (p.Ser125Ala) | |
| 13 | g.23250652C>A | CA387501563 | SGCG | c.320C>A (p.Ser107Ter) c.374C>A (p.Ser125Ter) | |
| 13 | g.23250652C= | CA2078590977 | SGCG | c.320C= (p.Ser107=) c.374C= (p.Ser125=) | |
| 13 | g.23250652C>G | CA387501564 | SGCG | c.320C>G (p.Ser107Ter) c.374C>G (p.Ser125Ter) | |
| 13 | g.23250652C>T | CA6909641 | SGCG | c.320C>T (p.Ser107Leu) c.374C>T (p.Ser125Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250653A= | CA2078590978 | SGCG | c.321A= (p.Ser107=) c.375A= (p.Ser125=) | |
| 13 | g.23250653A>C | CA6909642 | SGCG | c.321A>C (p.Ser107=) c.375A>C (p.Ser125=) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.23250653A>G | CA482918390 | SGCG | c.321A>G (p.Ser107=) c.375A>G (p.Ser125=) | |
| 13 | g.23250653A>T | CA482918391 | SGCG | c.321A>T (p.Ser107=) c.375A>T (p.Ser125=) | |
| 13 | g.23250654A>C | CA387501565 | SGCG | c.322A>C (p.Thr108Pro) c.376A>C (p.Thr126Pro) | |
| 13 | g.23250654A>G | CA387501566 | SGCG | c.322A>G (p.Thr108Ala) c.376A>G (p.Thr126Ala) | |
| 13 | g.23250654A>T | CA387501567 | SGCG | c.322A>T (p.Thr108Ser) c.376A>T (p.Thr126Ser) | |
| 13 | g.23250655C>A | CA387501568 | SGCG | c.323C>A (p.Thr108Asn) c.377C>A (p.Thr126Asn) | dbSNP gnomAD v4 |
| 13 | g.23250655C= | CA2078590979 | SGCG | c.323C= (p.Thr108=) c.377C= (p.Thr126=) | |
| 13 | g.23250655C>G | CA387501569 | SGCG | c.323C>G (p.Thr108Ser) c.377C>G (p.Thr126Ser) | |
| 13 | g.23250655C>T | CA387501570 | SGCG | c.323C>T (p.Thr108Ile) c.377C>T (p.Thr126Ile) | |
| 13 | g.23250657del | CA2575388459 | SGCG | c.325del (p.Gln109ArgfsTer3) c.379del (p.Gln127ArgfsTer3) | |
| 13 | g.23250656C>A | CA6909643 | SGCG | c.324C>A (p.Thr108=) c.378C>A (p.Thr126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250656C= | CA2078590980 | SGCG | c.324C= (p.Thr108=) c.378C= (p.Thr126=) | |
| 13 | g.23250656C>G | CA482918392 | SGCG | c.324C>G (p.Thr108=) c.378C>G (p.Thr126=) | |
| 13 | g.23250656C>T | CA482918393 | SGCG | c.324C>T (p.Thr108=) c.378C>T (p.Thr126=) | |
| 13 | g.23250657C>A | CA387501571 | SGCG | c.325C>A (p.Gln109Lys) c.379C>A (p.Gln127Lys) | |
| 13 | g.23250657C>G | CA387501572 | SGCG | c.325C>G (p.Gln109Glu) c.379C>G (p.Gln127Glu) | |
| 13 | g.23250657C>T | CA387501573 | SGCG | c.325C>T (p.Gln109Ter) c.379C>T (p.Gln127Ter) | gnomAD v4 |
| 13 | g.23250658A= | CA2078590981 | SGCG | c.326A= (p.Gln109=) c.380A= (p.Gln127=) | |
| 13 | g.23250658A>C | CA387501574 | SGCG | c.326A>C (p.Gln109Pro) c.380A>C (p.Gln127Pro) | |
| 13 | g.23250658A>G | CA6909644 | SGCG | c.326A>G (p.Gln109Arg) c.380A>G (p.Gln127Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250658A>T | CA387501575 | SGCG | c.326A>T (p.Gln109Leu) c.380A>T (p.Gln127Leu) | |
| 13 | g.23250659G>A | CA482918394 | SGCG | c.327G>A (p.Gln109=) c.381G>A (p.Gln127=) | ClinVar |
| 13 | g.23250659G>C | CA387501577 | SGCG | c.327G>C (p.Gln109His) c.381G>C (p.Gln127His) | |
| 13 | g.23250659G>T | CA387501576 | SGCG | c.327G>T (p.Gln109His) c.381G>T (p.Gln127His) | |
| 13 | g.23250660A>C | CA387501578 | SGCG | c.328A>C (p.Asn110His) c.382A>C (p.Asn128His) | |
| 13 | g.23250660A>G | CA387501580 | SGCG | c.328A>G (p.Asn110Asp) c.382A>G (p.Asn128Asp) | |
| 13 | g.23250660A>T | CA387501579 | SGCG | c.328A>T (p.Asn110Tyr) c.382A>T (p.Asn128Tyr) | |
| 13 | g.23250661A>C | CA387501581 | SGCG | c.329A>C (p.Asn110Thr) c.383A>C (p.Asn128Thr) | |
| 13 | g.23250661A>G | CA387501583 | SGCG | c.329A>G (p.Asn110Ser) c.383A>G (p.Asn128Ser) | gnomAD v4 |
| 13 | g.23250661A>T | CA387501582 | SGCG | c.329A>T (p.Asn110Ile) c.383A>T (p.Asn128Ile) | |
| 13 | g.23250662T>A | CA387501584 | SGCG | c.330T>A (p.Asn110Lys) c.384T>A (p.Asn128Lys) | |
| 13 | g.23250662T>C | CA482918395 | SGCG | c.330T>C (p.Asn110=) c.384T>C (p.Asn128=) | |
| 13 | g.23250662T>G | CA387501585 | SGCG | c.330T>G (p.Asn110Lys) c.384T>G (p.Asn128Lys) | |
| 13 | g.23250663G>A | CA387501586 | SGCG | c.331G>A (p.Val111Met) c.385G>A (p.Val129Met) | |
| 13 | g.23250663G>C | CA387501587 | SGCG | c.331G>C (p.Val111Leu) c.385G>C (p.Val129Leu) | |
| 13 | g.23250663G>T | CA387501588 | SGCG | c.331G>T (p.Val111Leu) c.385G>T (p.Val129Leu) | gnomAD v4 |
| 13 | g.23250664T>A | CA387501589 | SGCG | c.332T>A (p.Val111Glu) c.386T>A (p.Val129Glu) | |
| 13 | g.23250664T>C | CA387501590 | SGCG | c.332T>C (p.Val111Ala) c.386T>C (p.Val129Ala) | |
| 13 | g.23250664T>G | CA387501591 | SGCG | c.332T>G (p.Val111Gly) c.386T>G (p.Val129Gly) | gnomAD v4 |
| 13 | g.23250664_23250665delinsTG | CA2078590982 | SGCG | c.332_333delinsTG (p.Val111=) c.386_387delinsTG (p.Val129=) | |
| 13 | g.23250665del | CA915946741 | SGCG | c.333del (p.Thr112LeufsTer2) c.387del (p.Thr130LeufsTer2) | ClinVar dbSNP |
| 13 | g.23250665G>A | CA6909645 | SGCG | c.333G>A (p.Val111=) c.387G>A (p.Val129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250665G>C | CA482918396 | SGCG | c.333G>C (p.Val111=) c.387G>C (p.Val129=) | |
| 13 | g.23250665G= | CA2078590983 | SGCG | c.333G= (p.Val111=) c.387G= (p.Val129=) | |
| 13 | g.23250665G>T | CA482918397 | SGCG | c.333G>T (p.Val111=) c.387G>T (p.Val129=) | dbSNP |
| 13 | g.23250666A>C | CA387501592 | SGCG | c.334A>C (p.Thr112Pro) c.388A>C (p.Thr130Pro) | |
| 13 | g.23250666A>G | CA387501593 | SGCG | c.334A>G (p.Thr112Ala) c.388A>G (p.Thr130Ala) | |
| 13 | g.23250666A>T | CA387501594 | SGCG | c.334A>T (p.Thr112Ser) c.388A>T (p.Thr130Ser) | |
| 13 | g.23250667C>A | CA387501595 | SGCG | c.335C>A (p.Thr112Asn) c.389C>A (p.Thr130Asn) | gnomAD v4 |
| 13 | g.23250667C= | CA2078590984 | SGCG | c.335C= (p.Thr112=) c.389C= (p.Thr130=) | |
| 13 | g.23250667C>G | CA6909647 | SGCG | c.335C>G (p.Thr112Ser) c.389C>G (p.Thr130Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250667C>T | CA6909646 | SGCG | c.335C>T (p.Thr112Ile) c.389C>T (p.Thr130Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250668T>A | CA482918400 | SGCG | c.336T>A (p.Thr112=) c.390T>A (p.Thr130=) | |
| 13 | g.23250668T>C | CA482918399 | SGCG | c.336T>C (p.Thr112=) c.390T>C (p.Thr130=) | ClinVar |
| 13 | g.23250668T>G | CA482918398 | SGCG | c.336T>G (p.Thr112=) c.390T>G (p.Thr130=) | |
| 13 | g.23250669G>A | CA387501596 | SGCG | c.337G>A (p.Val113Ile) c.391G>A (p.Val131Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250669G>C | CA387501598 | SGCG | c.337G>C (p.Val113Leu) c.391G>C (p.Val131Leu) | |
| 13 | g.23250669G= | CA2078590985 | SGCG | c.337G= (p.Val113=) c.391G= (p.Val131=) | |
| 13 | g.23250669G>T | CA387501597 | SGCG | c.337G>T (p.Val113Leu) c.391G>T (p.Val131Leu) | COSMIC |
| 13 | g.23250670T>A | CA387501599 | SGCG | c.338T>A (p.Val113Glu) c.392T>A (p.Val131Glu) | |
| 13 | g.23250670T>C | CA387501600 | SGCG | c.338T>C (p.Val113Ala) c.392T>C (p.Val131Ala) | COSMIC |
| 13 | g.23250670T>G | CA387501601 | SGCG | c.338T>G (p.Val113Gly) c.392T>G (p.Val131Gly) | |
| 13 | g.23250671A>C | CA482918401 | SGCG | c.339A>C (p.Val113=) c.393A>C (p.Val131=) | |
| 13 | g.23250671A>G | CA482918402 | SGCG | c.339A>G (p.Val113=) c.393A>G (p.Val131=) | |
| 13 | g.23250671A>T | CA482918403 | SGCG | c.339A>T (p.Val113=) c.393A>T (p.Val131=) | |
| 13 | g.23250673del | CA2622326942 | SGCG | c.341del (p.Asn114MetfsTer13) c.395del (p.Asn132MetfsTer13) | gnomAD v4 |
| 13 | g.23250672A>C | CA387501602 | SGCG | c.340A>C (p.Asn114His) c.394A>C (p.Asn132His) | |
| 13 | g.23250672A>G | CA387501603 | SGCG | c.340A>G (p.Asn114Asp) c.394A>G (p.Asn132Asp) | |
| 13 | g.23250672A>T | CA387501604 | SGCG | c.340A>T (p.Asn114Tyr) c.394A>T (p.Asn132Tyr) | |
| 13 | g.23250673A= | CA2078590986 | SGCG | c.341A= (p.Asn114=) c.395A= (p.Asn132=) | |
| 13 | g.23250673A>C | CA387501605 | SGCG | c.341A>C (p.Asn114Thr) c.395A>C (p.Asn132Thr) | |
| 13 | g.23250673A>G | CA387501606 | SGCG | c.341A>G (p.Asn114Ser) c.395A>G (p.Asn132Ser) | |
| 13 | g.23250673A>T | CA387501607 | SGCG | c.341A>T (p.Asn114Ile) c.395A>T (p.Asn132Ile) | |
| 13 | g.23250674T>A | CA387501608 | SGCG | c.342T>A (p.Asn114Lys) c.396T>A (p.Asn132Lys) | |
| 13 | g.23250674T>C | CA482918404 | SGCG | c.342T>C (p.Asn114=) c.396T>C (p.Asn132=) | gnomAD v4 |
| 13 | g.23250674T>G | CA387501609 | SGCG | c.342T>G (p.Asn114Lys) c.396T>G (p.Asn132Lys) | gnomAD v4 |
| 13 | g.23250674dup | CA608612065 | SGCG | c.342dup (p.Ala115CysfsTer?) c.396dup (p.Ala133CysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250675G>A | CA387501610 | SGCG | c.343G>A (p.Ala115Thr) c.397G>A (p.Ala133Thr) | COSMIC |
| 13 | g.23250675G>C | CA387501612 | SGCG | c.343G>C (p.Ala115Pro) c.397G>C (p.Ala133Pro) | |
| 13 | g.23250675G>T | CA387501611 | SGCG | c.343G>T (p.Ala115Ser) c.397G>T (p.Ala133Ser) | |
| 13 | g.23250676C>A | CA6909649 | SGCG | c.344C>A (p.Ala115Glu) c.398C>A (p.Ala133Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.23250676C= | CA2078590987 | SGCG | c.344C= (p.Ala115=) c.398C= (p.Ala133=) | |
| 13 | g.23250676C>G | CA387501613 | SGCG | c.344C>G (p.Ala115Gly) c.398C>G (p.Ala133Gly) | |
| 13 | g.23250676C>T | CA6909648 | SGCG | c.344C>T (p.Ala115Val) c.398C>T (p.Ala133Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250677G>A | CA6909650 | SGCG | c.345G>A (p.Ala115=) c.399G>A (p.Ala133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.23250677G>C | CA482918405 | SGCG | c.345G>C (p.Ala115=) c.399G>C (p.Ala133=) | |
| 13 | g.23250677G= | CA2018046960 | SGCG | c.345G= (p.Ala115=) c.399G= (p.Ala133=) | |
| 13 | g.23250677G>T | CA482918406 | SGCG | c.345G>T (p.Ala115=) c.399G>T (p.Ala133=) | dbSNP |
| 13 | g.23250678C>A | CA387501614 | SGCG | c.346C>A (p.Arg116Ser) c.400C>A (p.Arg134Ser) | gnomAD v4 |
| 13 | g.23250678C= | CA2078590988 | SGCG | c.346C= (p.Arg116=) c.400C= (p.Arg134=) | |
| 13 | g.23250678C>G | CA387501615 | SGCG | c.346C>G (p.Arg116Gly) c.400C>G (p.Arg134Gly) | dbSNP |
| 13 | g.23250678C>T | CA6909651 | SGCG | c.346C>T (p.Arg116Cys) c.400C>T (p.Arg134Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.23250679G>A | CA145903 | SGCG | c.347G>A (p.Arg116His) c.401G>A (p.Arg134His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250679G>C | CA387501616 | SGCG | c.347G>C (p.Arg116Pro) c.401G>C (p.Arg134Pro) | |
| 13 | g.23250679G= | CA1630855842 | SGCG | c.347G= (p.Arg116=) c.401G= (p.Arg134=) | |
| 13 | g.23250679G>T | CA387501617 | SGCG | c.347G>T (p.Arg116Leu) c.401G>T (p.Arg134Leu) | |
| 13 | g.23250680C>A | CA482918407 | SGCG | c.348C>A (p.Arg116=) c.402C>A (p.Arg134=) | dbSNP gnomAD v4 |
| 13 | g.23250680C= | CA2078590989 | SGCG | c.348C= (p.Arg116=) c.402C= (p.Arg134=) | |
| 13 | g.23250680C>G | CA482918408 | SGCG | c.348C>G (p.Arg116=) c.402C>G (p.Arg134=) | |
| 13 | g.23250680C>T | CA482918409 | SGCG | c.348C>T (p.Arg116=) c.402C>T (p.Arg134=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250681A>C | CA387501618 | SGCG | c.349A>C (p.Asn117His) c.403A>C (p.Asn135His) | |
| 13 | g.23250681A>G | CA387501619 | SGCG | c.349A>G (p.Asn117Asp) c.403A>G (p.Asn135Asp) | |
| 13 | g.23250681A>T | CA387501620 | SGCG | c.349A>T (p.Asn117Tyr) c.403A>T (p.Asn135Tyr) | |
| 13 | g.23250682A>C | CA387501621 | SGCG | c.350A>C (p.Asn117Thr) c.404A>C (p.Asn135Thr) | |
| 13 | g.23250682A>G | CA387501623 | SGCG | c.350A>G (p.Asn117Ser) c.404A>G (p.Asn135Ser) | gnomAD v4 |
| 13 | g.23250682A>T | CA387501622 | SGCG | c.350A>T (p.Asn117Ile) c.404A>T (p.Asn135Ile) | |
| 13 | g.23250683C>A | CA387501624 | SGCG | c.351C>A (p.Asn117Lys) c.405C>A (p.Asn135Lys) | |
| 13 | g.23250683C>G | CA387501625 | SGCG | c.351C>G (p.Asn117Lys) c.405C>G (p.Asn135Lys) | |
| 13 | g.23250683C>T | CA482918410 | SGCG | c.351C>T (p.Asn117=) c.405C>T (p.Asn135=) | |
| 13 | g.23250684T>A | CA387501626 | SGCG | c.352T>A (p.Ser118Thr) c.406T>A (p.Ser136Thr) | |
| 13 | g.23250684T>C | CA6909652 | SGCG | c.352T>C (p.Ser118Pro) c.406T>C (p.Ser136Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250684T>G | CA387501627 | SGCG | c.352T>G (p.Ser118Ala) c.406T>G (p.Ser136Ala) | |
| 13 | g.23250684T= | CA2078590990 | SGCG | c.352T= (p.Ser118=) c.406T= (p.Ser136=) | |
| 13 | g.23250685C>A | CA387501628 | SGCG | c.353C>A (p.Ser118Ter) c.407C>A (p.Ser136Ter) | gnomAD v4 |
| 13 | g.23250685C>G | CA387501629 | SGCG | c.353C>G (p.Ser118Ter) c.407C>G (p.Ser136Ter) | |
| 13 | g.23250685C>T | CA387501630 | SGCG | c.353C>T (p.Ser118Leu) c.407C>T (p.Ser136Leu) | COSMIC |
| 13 | g.23250685_23250687delinsCAG | CA2078590991 | SGCG | c.353_355delinsCAG (p.Ser118=) c.407_409delinsCAG (p.Ser136=) | |
| 13 | g.23250686A= | CA2078590992 | SGCG | c.354A= (p.Ser118=) c.408A= (p.Ser136=) | |
| 13 | g.23250686A>C | CA482918411 | SGCG | c.354A>C (p.Ser118=) c.408A>C (p.Ser136=) | gnomAD v4 |
| 13 | g.23250686A>G | CA6909654 | SGCG | c.354A>G (p.Ser118=) c.408A>G (p.Ser136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250686A>T | CA482918412 | SGCG | c.354A>T (p.Ser118=) c.408A>T (p.Ser136=) | gnomAD v4 |
| 13 | g.23250687_23250688del | CA6909653 | SGCG | c.355_356del (p.Glu119ArgfsTer?) c.409_410del (p.Glu137ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250687G>A | CA387501633 | SGCG | c.355G>A (p.Glu119Lys) c.409G>A (p.Glu137Lys) | |
| 13 | g.23250687G>C | CA387501632 | SGCG | c.355G>C (p.Glu119Gln) c.409G>C (p.Glu137Gln) | |
| 13 | g.23250687G>T | CA387501631 | SGCG | c.355G>T (p.Glu119Ter) c.409G>T (p.Glu137Ter) | |
| 13 | g.23250688A>C | CA387501635 | SGCG | c.356A>C (p.Glu119Ala) c.410A>C (p.Glu137Ala) | |
| 13 | g.23250688A>G | CA387501634 | SGCG | c.356A>G (p.Glu119Gly) c.410A>G (p.Glu137Gly) | |
| 13 | g.23250688A>T | CA387501636 | SGCG | c.356A>T (p.Glu119Val) c.410A>T (p.Glu137Val) | |
| 13 | g.23250689A>C | CA387501637 | SGCG | c.357A>C (p.Glu119Asp) c.411A>C (p.Glu137Asp) | |
| 13 | g.23250689A>G | CA482918413 | SGCG | c.357A>G (p.Glu119=) c.411A>G (p.Glu137=) | |
| 13 | g.23250689A>T | CA387501638 | SGCG | c.357A>T (p.Glu119Asp) c.411A>T (p.Glu137Asp) | |
| 13 | g.23250689_23250690delinsAG | CA2078590993 | SGCG | c.357_358delinsAG (p.Glu119=) c.411_412delinsAG (p.Glu137=) | |
| 13 | g.23250690G>A | CA387501639 | SGCG | c.358G>A (p.Gly120Arg) c.412G>A (p.Gly138Arg) | dbSNP |
| 13 | g.23250690G>C | CA387501640 | SGCG | c.358G>C (p.Gly120Arg) c.412G>C (p.Gly138Arg) | |
| 13 | g.23250690G= | CA2078590994 | SGCG | c.358G= (p.Gly120=) c.412G= (p.Gly138=) | |
| 13 | g.23250690G>T | CA387501641 | SGCG | c.358G>T (p.Gly120Trp) c.412G>T (p.Gly138Trp) | |
| 13 | g.23250693del | CA954039973 | SGCG | c.361del (p.Glu121ArgfsTer6) c.415del (p.Glu139ArgfsTer6) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250691G>A | CA387501642 | SGCG | c.359G>A (p.Gly120Glu) c.413G>A (p.Gly138Glu) | gnomAD v4 COSMIC |
| 13 | g.23250691G>C | CA387501643 | SGCG | c.359G>C (p.Gly120Ala) c.413G>C (p.Gly138Ala) | |
| 13 | g.23250691G>T | CA387501644 | SGCG | c.359G>T (p.Gly120Val) c.413G>T (p.Gly138Val) | |
| 13 | g.23250692G>A | CA6909655 | SGCG | c.360G>A (p.Gly120=) c.414G>A (p.Gly138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250692G>C | CA482918414 | SGCG | c.360G>C (p.Gly120=) c.414G>C (p.Gly138=) | gnomAD v4 |
| 13 | g.23250692G= | CA2078590995 | SGCG | c.360G= (p.Gly120=) c.414G= (p.Gly138=) | |
| 13 | g.23250692G>T | CA482918415 | SGCG | c.360G>T (p.Gly120=) c.414G>T (p.Gly138=) | |
| 13 | g.23250693G>A | CA387501645 | SGCG | c.361G>A (p.Glu121Lys) c.415G>A (p.Glu139Lys) | gnomAD v4 COSMIC |
| 13 | g.23250693G>C | CA387501646 | SGCG | c.361G>C (p.Glu121Gln) c.415G>C (p.Glu139Gln) | gnomAD v4 |
| 13 | g.23250693G= | CA2078590996 | SGCG | c.361G= (p.Glu121=) c.415G= (p.Glu139=) | |
| 13 | g.23250693G>T | CA246628675 | SGCG | c.361G>T (p.Glu121Ter) c.415G>T (p.Glu139Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23250694A>C | CA387501649 | SGCG | c.362A>C (p.Glu121Ala) c.416A>C (p.Glu139Ala) | gnomAD v4 |
| 13 | g.23250694A>G | CA387501647 | SGCG | c.362A>G (p.Glu121Gly) c.416A>G (p.Glu139Gly) | gnomAD v4 |
| 13 | g.23250694A>T | CA387501648 | SGCG | c.362A>T (p.Glu121Val) c.416A>T (p.Glu139Val) | |
| 13 | g.23250695G>A | CA482918416 | SGCG | c.363G>A (p.Glu121=) c.417G>A (p.Glu139=) | ClinVar gnomAD v4 COSMIC |
| 13 | g.23250695G>C | CA387501650 | SGCG | c.363G>C (p.Glu121Asp) c.417G>C (p.Glu139Asp) | dbSNP gnomAD v2 |
| 13 | g.23250695G= | CA2078590997 | SGCG | c.363G= (p.Glu121=) c.417G= (p.Glu139=) | |
| 13 | g.23250695G>T | CA387501651 | SGCG | c.363G>T (p.Glu121Asp) c.417G>T (p.Glu139Asp) | gnomAD v4 |
| 13 | g.23250696G>A | CA387501652 | SGCG | c.364G>A (p.Val122Ile) c.418G>A (p.Val140Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250696G>C | CA387501653 | SGCG | c.364G>C (p.Val122Leu) c.418G>C (p.Val140Leu) | |
| 13 | g.23250696G= | CA2078590998 | SGCG | c.364G= (p.Val122=) c.418G= (p.Val140=) | |
| 13 | g.23250696G>T | CA387501654 | SGCG | c.364G>T (p.Val122Phe) c.418G>T (p.Val140Phe) | COSMIC |
| 13 | g.23250697T>A | CA387501655 | SGCG | c.365T>A (p.Val122Asp) c.419T>A (p.Val140Asp) | |
| 13 | g.23250697T>C | CA387501656 | SGCG | c.365T>C (p.Val122Ala) c.419T>C (p.Val140Ala) | |
| 13 | g.23250697T>G | CA387501657 | SGCG | c.365T>G (p.Val122Gly) c.419T>G (p.Val140Gly) | |
| 13 | g.23250698C>A | CA482918417 | SGCG | c.366C>A (p.Val122=) c.420C>A (p.Val140=) | |
| 13 | g.23250698C>G | CA482918418 | SGCG | c.366C>G (p.Val122=) c.420C>G (p.Val140=) | |
| 13 | g.23250698C>T | CA482918419 | SGCG | c.366C>T (p.Val122=) c.420C>T (p.Val140=) | gnomAD v4 |
| 13 | g.23250700_23250701del | CA2622326978 | SGCG | c.368_369del (p.Thr123ArgfsTer?) c.422_423del (p.Thr141ArgfsTer?) | gnomAD v4 |
| 13 | g.23250699A>C | CA387501658 | SGCG | c.367A>C (p.Thr123Pro) c.421A>C (p.Thr141Pro) | |
| 13 | g.23250699A>G | CA387501659 | SGCG | c.367A>G (p.Thr123Ala) c.421A>G (p.Thr141Ala) | gnomAD v4 |
| 13 | g.23250699A>T | CA387501660 | SGCG | c.367A>T (p.Thr123Ser) c.421A>T (p.Thr141Ser) | |
| 13 | g.23250700C>A | CA387501662 | SGCG | c.368C>A (p.Thr123Lys) c.422C>A (p.Thr141Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250700C= | CA2078590999 | SGCG | c.368C= (p.Thr123=) c.422C= (p.Thr141=) | |
| 13 | g.23250700C>G | CA387501663 | SGCG | c.368C>G (p.Thr123Arg) c.422C>G (p.Thr141Arg) | |
| 13 | g.23250700C>T | CA387501661 | SGCG | c.368C>T (p.Thr123Ile) c.422C>T (p.Thr141Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250701A>C | CA482918420 | SGCG | c.369A>C (p.Thr123=) c.423A>C (p.Thr141=) | |
| 13 | g.23250701A>G | CA482918421 | SGCG | c.369A>G (p.Thr123=) c.423A>G (p.Thr141=) | gnomAD v4 |
| 13 | g.23250701A>T | CA482918422 | SGCG | c.369A>T (p.Thr123=) c.423A>T (p.Thr141=) | |
| 13 | g.23250701dup | CA2580086801 | SGCG | c.369dup (p.Gly124ArgfsTer?) c.423dup (p.Gly142ArgfsTer?) | ClinVar gnomAD v4 |
| 13 | g.23250702G>A | CA387501664 | SGCG | c.370G>A (p.Gly124Ser) c.424G>A (p.Gly142Ser) | gnomAD v4 COSMIC |
| 13 | g.23250702G>C | CA387501665 | SGCG | c.370G>C (p.Gly124Arg) c.424G>C (p.Gly142Arg) | |
| 13 | g.23250702G>T | CA387501666 | SGCG | c.370G>T (p.Gly124Cys) c.424G>T (p.Gly142Cys) | |
| 13 | g.23250703G>A | CA387501667 | SGCG | c.371G>A (p.Gly124Asp) c.425G>A (p.Gly142Asp) | |
| 13 | g.23250703G>C | CA387501668 | SGCG | c.371G>C (p.Gly124Ala) c.425G>C (p.Gly142Ala) | gnomAD v4 |
| 13 | g.23250703G= | CA2078591000 | SGCG | c.371G= (p.Gly124=) c.425G= (p.Gly142=) | |
| 13 | g.23250703G>T | CA6909656 | SGCG | c.371G>T (p.Gly124Val) c.425G>T (p.Gly142Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250704C>A | CA482918423 | SGCG | c.372C>A (p.Gly124=) c.426C>A (p.Gly142=) | gnomAD v4 |
| 13 | g.23250704C= | CA2078591001 | SGCG | c.372C= (p.Gly124=) c.426C= (p.Gly142=) | |
| 13 | g.23250704C>G | CA482918424 | SGCG | c.372C>G (p.Gly124=) c.426C>G (p.Gly142=) | |
| 13 | g.23250704C>T | CA482918425 | SGCG | c.372C>T (p.Gly124=) c.426C>T (p.Gly142=) | dbSNP |
| 13 | g.23250705A>C | CA482918426 | SGCG | c.373A>C (p.Arg125=) c.427A>C (p.Arg143=) | |
| 13 | g.23250705A>G | CA387501669 | SGCG | c.373A>G (p.Arg125Gly) c.427A>G (p.Arg143Gly) | |
| 13 | g.23250705A>T | CA387501670 | SGCG | c.373A>T (p.Arg125Trp) c.427A>T (p.Arg143Trp) | |
| 13 | g.23250706G>A | CA387501671 | SGCG | c.374G>A (p.Arg125Lys) c.428G>A (p.Arg143Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23250706G>C | CA387501672 | SGCG | c.374G>C (p.Arg125Thr) c.428G>C (p.Arg143Thr) | |
| 13 | g.23250706G>T | CA387501673 | SGCG | c.374G>T (p.Arg125Met) c.428G>T (p.Arg143Met) | |
| 13 | g.23250707G>A | CA482918427 | SGCG | c.375G>A (p.Arg125=) c.429G>A (p.Arg143=) | ClinVar |
| 13 | g.23250707G>C | CA387501674 | SGCG | c.375G>C (p.Arg125Ser) c.429G>C (p.Arg143Ser) | |
| 13 | g.23250707G>T | CA387501675 | SGCG | c.375G>T (p.Arg125Ser) c.429G>T (p.Arg143Ser) | |
| 13 | g.23250708T>A | CA387501677 | SGCG | c.376T>A (p.Leu126Ile) c.430T>A (p.Leu144Ile) | gnomAD v4 |
| 13 | g.23250708T>C | CA482918428 | SGCG | c.376T>C (p.Leu126=) c.430T>C (p.Leu144=) | |
| 13 | g.23250708T>G | CA387501676 | SGCG | c.376T>G (p.Leu126Val) c.430T>G (p.Leu144Val) | dbSNP |
| 13 | g.23250708T= | CA2078591002 | SGCG | c.376T= (p.Leu126=) c.430T= (p.Leu144=) | |
| 13 | g.23250709T>A | CA387501678 | SGCG | c.377T>A (p.Leu126Ter) c.431T>A (p.Leu144Ter) | |
| 13 | g.23250709T>C | CA387501679 | SGCG | c.377T>C (p.Leu126Ser) c.431T>C (p.Leu144Ser) | |
| 13 | g.23250709T>G | CA387501680 | SGCG | c.377T>G (p.Leu126Ter) c.431T>G (p.Leu144Ter) | |
| 13 | g.23250710A= | CA2078591003 | SGCG | c.378A= (p.Leu126=) c.432A= (p.Leu144=) | |
| 13 | g.23250710A>C | CA387501681 | SGCG | c.378A>C (p.Leu126Phe) c.432A>C (p.Leu144Phe) | |
| 13 | g.23250710A>G | CA6909657 | SGCG | c.378A>G (p.Leu126=) c.432A>G (p.Leu144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250710A>T | CA387501682 | SGCG | c.378A>T (p.Leu126Phe) c.432A>T (p.Leu144Phe) | |
| 13 | g.23250712_23250713del | CA2622327006 | SGCG | c.380_381del (p.Lys127SerfsTer28) c.434_435del (p.Lys145SerfsTer28) | gnomAD v4 |
| 13 | g.23250711A= | CA2078591004 | SGCG | c.379A= (p.Lys127=) c.433A= (p.Lys145=) | |
| 13 | g.23250711A>C | CA6909658 | SGCG | c.379A>C (p.Lys127Gln) c.433A>C (p.Lys145Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250711A>G | CA387501683 | SGCG | c.379A>G (p.Lys127Glu) c.433A>G (p.Lys145Glu) | |
| 13 | g.23250711A>T | CA387501684 | SGCG | c.379A>T (p.Lys127Ter) c.433A>T (p.Lys145Ter) | |
| 13 | g.23250712A>C | CA387501685 | SGCG | c.380A>C (p.Lys127Thr) c.434A>C (p.Lys145Thr) | |
| 13 | g.23250712A>G | CA387501686 | SGCG | c.380A>G (p.Lys127Arg) c.434A>G (p.Lys145Arg) | |
| 13 | g.23250712A>T | CA387501687 | SGCG | c.380A>T (p.Lys127Ile) c.434A>T (p.Lys145Ile) | |
| 13 | g.23250713A>C | CA387501688 | SGCG | c.381A>C (p.Lys127Asn) c.435A>C (p.Lys145Asn) | |
| 13 | g.23250713A>G | CA482918430 | SGCG | c.381A>G (p.Lys127=) c.435A>G (p.Lys145=) | ClinVar |
| 13 | g.23250713A>T | CA387501689 | SGCG | c.381A>T (p.Lys127Asn) c.435A>T (p.Lys145Asn) | |
| 13 | g.23250714G>A | CA387501691 | SGCG | c.382G>A (p.Val128Ile) c.436G>A (p.Val146Ile) | |
| 13 | g.23250714G>C | CA387501692 | SGCG | c.382G>C (p.Val128Leu) c.436G>C (p.Val146Leu) | |
| 13 | g.23250714G>T | CA387501690 | SGCG | c.382G>T (p.Val128Phe) c.436G>T (p.Val146Phe) | |
| 13 | g.23250715T>A | CA246628711 | SGCG | c.383T>A (p.Val128Asp) c.437T>A (p.Val146Asp) | dbSNP |
| 13 | g.23250715T>C | CA387501694 | SGCG | c.383T>C (p.Val128Ala) c.437T>C (p.Val146Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250715T>G | CA387501693 | SGCG | c.383T>G (p.Val128Gly) c.437T>G (p.Val146Gly) | |
| 13 | g.23250715T= | CA2078591005 | SGCG | c.383T= (p.Val128=) c.437T= (p.Val146=) | |
| 13 | g.23250716C>A | CA482918434 | SGCG | c.384C>A (p.Val128=) c.438C>A (p.Val146=) | gnomAD v4 |
| 13 | g.23250716C= | CA2078591006 | SGCG | c.384C= (p.Val128=) c.438C= (p.Val146=) | |
| 13 | g.23250716C>G | CA482918433 | SGCG | c.384C>G (p.Val128=) c.438C>G (p.Val146=) | |
| 13 | g.23250716C>T | CA6909659 | SGCG | c.384C>T (p.Val128=) c.438C>T (p.Val146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.23250717G>A | CA6909660 | SGCG | c.385G>A (p.Gly129Ser) c.439G>A (p.Gly147Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.23250717G>C | CA246628718 | SGCG | c.385G>C (p.Gly129Arg) c.439G>C (p.Gly147Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250717G= | CA2078591007 | SGCG | c.385G= (p.Gly129=) c.439G= (p.Gly147=) | |
| 13 | g.23250717G>T | CA387501695 | SGCG | c.385G>T (p.Gly129Cys) c.439G>T (p.Gly147Cys) | |
| 13 | g.23250718G>A | CA387501696 | SGCG | c.385+1G>A (n.385+1G>A) c.439+1G>A (n.439+1G>A) | ClinVar gnomAD v4 COSMIC |
| 13 | g.23250718G>C | CA387501697 | SGCG | c.385+1G>C (n.385+1G>C) c.439+1G>C (n.439+1G>C) | |
| 13 | g.23250718G>T | CA387501698 | SGCG | c.385+1G>T (n.385+1G>T) c.439+1G>T (n.439+1G>T) | |
| 13 | g.23250719T>A | CA387501699 | SGCG | c.385+2T>A (n.385+2T>A) c.439+2T>A (n.439+2T>A) | ClinVar dbSNP |
| 13 | g.23250719T>C | CA6909661 | SGCG | c.385+2T>C (n.385+2T>C) c.439+2T>C (n.439+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250719T>G | CA10606816 | SGCG | c.385+2T>G (n.385+2T>G) c.439+2T>G (n.439+2T>G) | ClinVar dbSNP |
| 13 | g.23250719T= | CA2078591008 | SGCG | c.385+2T= (n.385+2T=) c.439+2T= (n.439+2T=) |