UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.156594951T>A | CA447388098 | SGCD | c.402T>A (p.Ala134=) c.399T>A (p.Ala133=) | dbSNP |
| 5 | g.156594951T>C | CA308776 | SGCD | c.402T>C (p.Ala134=) c.399T>C (p.Ala133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594951T>G | CA447388099 | SGCD | c.402T>G (p.Ala134=) c.399T>G (p.Ala133=) | |
| 5 | g.156594951T= | CA1593779126 | SGCD | c.402T= (p.Ala134=) c.399T= (p.Ala133=) | |
| 5 | g.156594952del | CA2676178498 | SGCD | c.403del (p.Tyr135MetfsTer7) c.400del (p.Tyr134MetfsTer7) | gnomAD v4 |
| 5 | g.156594952T>A | CA362010310 | SGCD | c.403T>A (p.Tyr135Asn) c.400T>A (p.Tyr134Asn) | |
| 5 | g.156594952T>C | CA362010309 | SGCD | c.403T>C (p.Tyr135His) c.400T>C (p.Tyr134His) | |
| 5 | g.156594952T>G | CA362010308 | SGCD | c.403T>G (p.Tyr135Asp) c.400T>G (p.Tyr134Asp) | |
| 5 | g.156594953A>C | CA362010311 | SGCD | c.404A>C (p.Tyr135Ser) c.401A>C (p.Tyr134Ser) | |
| 5 | g.156594953A>G | CA362010316 | SGCD | c.404A>G (p.Tyr135Cys) c.401A>G (p.Tyr134Cys) | |
| 5 | g.156594953A>T | CA362010318 | SGCD | c.404A>T (p.Tyr135Phe) c.401A>T (p.Tyr134Phe) | |
| 5 | g.156594954T>A | CA362010319 | SGCD | c.405T>A (p.Tyr135Ter) c.402T>A (p.Tyr134Ter) | |
| 5 | g.156594954T>C | CA3530598 | SGCD | c.405T>C (p.Tyr135=) c.402T>C (p.Tyr134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.156594954T>G | CA362010320 | SGCD | c.405T>G (p.Tyr135Ter) c.402T>G (p.Tyr134Ter) | |
| 5 | g.156594954T= | CA1593779127 | SGCD | c.405T= (p.Tyr135=) c.402T= (p.Tyr134=) | |
| 5 | g.156594955G>A | CA362010325 | SGCD | c.406G>A (p.Gly136Ser) c.403G>A (p.Gly135Ser) | |
| 5 | g.156594955G>C | CA362010330 | SGCD | c.406G>C (p.Gly136Arg) c.403G>C (p.Gly135Arg) | |
| 5 | g.156594955G>T | CA362010333 | SGCD | c.406G>T (p.Gly136Cys) c.403G>T (p.Gly135Cys) | |
| 5 | g.156594956G>A | CA362010340 | SGCD | c.407G>A (p.Gly136Asp) c.404G>A (p.Gly135Asp) | |
| 5 | g.156594956G>C | CA362010336 | SGCD | c.407G>C (p.Gly136Ala) c.404G>C (p.Gly135Ala) | |
| 5 | g.156594956G>T | CA362010339 | SGCD | c.407G>T (p.Gly136Val) c.404G>T (p.Gly135Val) | |
| 5 | g.156594957T>A | CA447388100 | SGCD | c.408T>A (p.Gly136=) c.405T>A (p.Gly135=) | |
| 5 | g.156594957T>C | CA447388101 | SGCD | c.408T>C (p.Gly136=) c.405T>C (p.Gly135=) | dbSNP |
| 5 | g.156594957T>G | CA447388102 | SGCD | c.408T>G (p.Gly136=) c.405T>G (p.Gly135=) | |
| 5 | g.156594957T= | CA1593779128 | SGCD | c.408T= (p.Gly136=) c.405T= (p.Gly135=) | |
| 5 | g.156594957_156594958delinsTA | CA1593779129 | SGCD | c.408_409delinsTA (p.Gly136=) c.405_406delinsTA (p.Gly135=) | |
| 5 | g.156594958A>C | CA362010341 | SGCD | c.409A>C (p.Lys137Gln) c.406A>C (p.Lys136Gln) | |
| 5 | g.156594958A>G | CA362010343 | SGCD | c.409A>G (p.Lys137Glu) c.406A>G (p.Lys136Glu) | |
| 5 | g.156594958A>T | CA362010346 | SGCD | c.409A>T (p.Lys137Ter) c.406A>T (p.Lys136Ter) | |
| 5 | g.156594963dup | CA2676178499 | SGCD | c.414dup (p.Phe139IlefsTer2) c.411dup (p.Phe138IlefsTer2) | ClinVar gnomAD v4 |
| 5 | g.156594963del | CA563937671 | SGCD | c.414del (p.Lys138AsnfsTer4) c.411del (p.Lys137AsnfsTer4) | dbSNP gnomAD v2 |
| 5 | g.156594959A>C | CA362010347 | SGCD | c.410A>C (p.Lys137Thr) c.407A>C (p.Lys136Thr) | |
| 5 | g.156594959A>G | CA362010348 | SGCD | c.410A>G (p.Lys137Arg) c.407A>G (p.Lys136Arg) | |
| 5 | g.156594959A>T | CA362010350 | SGCD | c.410A>T (p.Lys137Ile) c.407A>T (p.Lys136Ile) | |
| 5 | g.156594960A>C | CA362010357 | SGCD | c.411A>C (p.Lys137Asn) c.408A>C (p.Lys136Asn) | gnomAD v4 |
| 5 | g.156594960A>G | CA447388103 | SGCD | c.411A>G (p.Lys137=) c.408A>G (p.Lys136=) | |
| 5 | g.156594960A>T | CA362010358 | SGCD | c.411A>T (p.Lys137Asn) c.408A>T (p.Lys136Asn) | |
| 5 | g.156594961A>C | CA362010364 | SGCD | c.412A>C (p.Lys138Gln) c.409A>C (p.Lys137Gln) | |
| 5 | g.156594961A>G | CA362010362 | SGCD | c.412A>G (p.Lys138Glu) c.409A>G (p.Lys137Glu) | |
| 5 | g.156594961A>T | CA362010361 | SGCD | c.412A>T (p.Lys138Ter) c.409A>T (p.Lys137Ter) | |
| 5 | g.156594962A= | CA1593779130 | SGCD | c.413A= (p.Lys138=) c.410A= (p.Lys137=) | |
| 5 | g.156594962A>C | CA362010367 | SGCD | c.413A>C (p.Lys138Thr) c.410A>C (p.Lys137Thr) | |
| 5 | g.156594962A>G | CA362010372 | SGCD | c.413A>G (p.Lys138Arg) c.410A>G (p.Lys137Arg) | ClinVar |
| 5 | g.156594962A>T | CA362010375 | SGCD | c.413A>T (p.Lys138Ile) c.410A>T (p.Lys137Ile) | ClinVar dbSNP |
| 5 | g.156594963A= | CA1593779131 | SGCD | c.414A= (p.Lys138=) c.411A= (p.Lys137=) | |
| 5 | g.156594963A>C | CA362010378 | SGCD | c.414A>C (p.Lys138Asn) c.411A>C (p.Lys137Asn) | |
| 5 | g.156594963A>G | CA447388104 | SGCD | c.414A>G (p.Lys138=) c.411A>G (p.Lys137=) | ClinVar |
| 5 | g.156594963A>T | CA362010380 | SGCD | c.414A>T (p.Lys138Asn) c.411A>T (p.Lys137Asn) | ClinVar dbSNP |
| 5 | g.156594964T>A | CA10606421 | SGCD | c.415T>A (p.Phe139Ile) c.412T>A (p.Phe138Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156594964T>C | CA362010381 | SGCD | c.415T>C (p.Phe139Leu) c.412T>C (p.Phe138Leu) | |
| 5 | g.156594964T>G | CA362010383 | SGCD | c.415T>G (p.Phe139Val) c.412T>G (p.Phe138Val) | gnomAD v4 |
| 5 | g.156594964T= | CA1593779132 | SGCD | c.415T= (p.Phe139=) c.412T= (p.Phe138=) | |
| 5 | g.156594965T>A | CA362010386 | SGCD | c.416T>A (p.Phe139Tyr) c.413T>A (p.Phe138Tyr) | |
| 5 | g.156594965T>C | CA362010389 | SGCD | c.416T>C (p.Phe139Ser) c.413T>C (p.Phe138Ser) | gnomAD v4 |
| 5 | g.156594965T>G | CA362010393 | SGCD | c.416T>G (p.Phe139Cys) c.413T>G (p.Phe138Cys) | |
| 5 | g.156594966T>A | CA362010396 | SGCD | c.417T>A (p.Phe139Leu) c.414T>A (p.Phe138Leu) | |
| 5 | g.156594966T>C | CA447388105 | SGCD | c.417T>C (p.Phe139=) c.414T>C (p.Phe138=) | |
| 5 | g.156594966T>G | CA362010394 | SGCD | c.417T>G (p.Phe139Leu) c.414T>G (p.Phe138Leu) | |
| 5 | g.156594967G>A | CA362010398 | SGCD | c.418G>A (p.Glu140Lys) c.415G>A (p.Glu139Lys) | |
| 5 | g.156594967G>C | CA362010399 | SGCD | c.418G>C (p.Glu140Gln) c.415G>C (p.Glu139Gln) | |
| 5 | g.156594967G>T | CA362010400 | SGCD | c.418G>T (p.Glu140Ter) c.415G>T (p.Glu139Ter) | gnomAD v4 |
| 5 | g.156594968A>C | CA362010403 | SGCD | c.419A>C (p.Glu140Ala) c.416A>C (p.Glu139Ala) | |
| 5 | g.156594968A>G | CA362010408 | SGCD | c.419A>G (p.Glu140Gly) c.416A>G (p.Glu139Gly) | |
| 5 | g.156594968A>T | CA362010409 | SGCD | c.419A>T (p.Glu140Val) c.416A>T (p.Glu139Val) | |
| 5 | g.156594969G>A | CA447388106 | SGCD | c.420G>A (p.Glu140=) c.417G>A (p.Glu139=) | |
| 5 | g.156594969G>C | CA362010410 | SGCD | c.420G>C (p.Glu140Asp) c.417G>C (p.Glu139Asp) | |
| 5 | g.156594969G>T | CA362010413 | SGCD | c.420G>T (p.Glu140Asp) c.417G>T (p.Glu139Asp) | |
| 5 | g.156594970G>A | CA362010417 | SGCD | c.421G>A (p.Val141Ile) c.418G>A (p.Val140Ile) | |
| 5 | g.156594970G>C | CA362010420 | SGCD | c.421G>C (p.Val141Leu) c.418G>C (p.Val140Leu) | |
| 5 | g.156594970G= | CA1593779133 | SGCD | c.421G= (p.Val141=) c.418G= (p.Val140=) | |
| 5 | g.156594970G>T | CA362010422 | SGCD | c.421G>T (p.Val141Leu) c.418G>T (p.Val140Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594971T>A | CA362010425 | SGCD | c.422T>A (p.Val141Glu) c.419T>A (p.Val140Glu) | |
| 5 | g.156594971T>C | CA362010430 | SGCD | c.422T>C (p.Val141Ala) c.419T>C (p.Val140Ala) | |
| 5 | g.156594971T>G | CA362010428 | SGCD | c.422T>G (p.Val141Gly) c.419T>G (p.Val140Gly) | |
| 5 | g.156594971dup | CA2573052468 | SGCD | c.422dup (p.Thr143AsnfsTer13) c.419dup (p.Thr142AsnfsTer13) | ClinVar dbSNP |
| 5 | g.156594972A>C | CA447388109 | SGCD | c.423A>C (p.Val141=) c.420A>C (p.Val140=) | |
| 5 | g.156594972A>G | CA447388108 | SGCD | c.423A>G (p.Val141=) c.420A>G (p.Val140=) | |
| 5 | g.156594972A>T | CA447388107 | SGCD | c.423A>T (p.Val141=) c.420A>T (p.Val140=) | |
| 5 | g.156594973A>C | CA362010436 | SGCD | c.424A>C (p.Lys142Gln) c.421A>C (p.Lys141Gln) | |
| 5 | g.156594973A>G | CA362010440 | SGCD | c.424A>G (p.Lys142Glu) c.421A>G (p.Lys141Glu) | |
| 5 | g.156594973A>T | CA362010444 | SGCD | c.424A>T (p.Lys142Ter) c.421A>T (p.Lys141Ter) | |
| 5 | g.156594974A>C | CA362010447 | SGCD | c.425A>C (p.Lys142Thr) c.422A>C (p.Lys141Thr) | |
| 5 | g.156594974A>G | CA362010448 | SGCD | c.425A>G (p.Lys142Arg) c.422A>G (p.Lys141Arg) | |
| 5 | g.156594974A>T | CA362010449 | SGCD | c.425A>T (p.Lys142Ile) c.422A>T (p.Lys141Ile) | |
| 5 | g.156594975A>C | CA362010452 | SGCD | c.426A>C (p.Lys142Asn) c.423A>C (p.Lys141Asn) | gnomAD v4 |
| 5 | g.156594975A>G | CA447388110 | SGCD | c.426A>G (p.Lys142=) c.423A>G (p.Lys141=) | |
| 5 | g.156594975A>T | CA362010453 | SGCD | c.426A>T (p.Lys142Asn) c.423A>T (p.Lys141Asn) | |
| 5 | g.156594976A= | CA1593779134 | SGCD | c.427A= (p.Thr143=) c.424A= (p.Thr142=) | |
| 5 | g.156594976A>C | CA362010457 | SGCD | c.427A>C (p.Thr143Pro) c.424A>C (p.Thr142Pro) | gnomAD v4 |
| 5 | g.156594976A>G | CA362010455 | SGCD | c.427A>G (p.Thr143Ala) c.424A>G (p.Thr142Ala) | gnomAD v4 |
| 5 | g.156594976A>T | CA362010454 | SGCD | c.427A>T (p.Thr143Ser) c.424A>T (p.Thr142Ser) | dbSNP |
| 5 | g.156594977C>A | CA362010459 | SGCD | c.428C>A (p.Thr143Asn) c.425C>A (p.Thr142Asn) | |
| 5 | g.156594977C>G | CA362010461 | SGCD | c.428C>G (p.Thr143Ser) c.425C>G (p.Thr142Ser) | |
| 5 | g.156594977C>T | CA362010463 | SGCD | c.428C>T (p.Thr143Ile) c.425C>T (p.Thr142Ile) | |
| 5 | g.156594978T>A | CA447388111 | SGCD | c.429T>A (p.Thr143=) c.426T>A (p.Thr142=) | |
| 5 | g.156594978T>C | CA447388112 | SGCD | c.429T>C (p.Thr143=) c.426T>C (p.Thr142=) | |
| 5 | g.156594978T>G | CA447388113 | SGCD | c.429T>G (p.Thr143=) c.426T>G (p.Thr142=) | |
| 5 | g.156594979G>A | CA362010466 | SGCD | c.430G>A (p.Val144Ile) c.427G>A (p.Val143Ile) | gnomAD v4 |
| 5 | g.156594979G>C | CA362010472 | SGCD | c.430G>C (p.Val144Leu) c.427G>C (p.Val143Leu) | gnomAD v4 |
| 5 | g.156594979G>T | CA362010474 | SGCD | c.430G>T (p.Val144Phe) c.427G>T (p.Val143Phe) | |
| 5 | g.156594980T>A | CA362010476 | SGCD | c.431T>A (p.Val144Asp) c.428T>A (p.Val143Asp) | |
| 5 | g.156594980T>C | CA362010477 | SGCD | c.431T>C (p.Val144Ala) c.428T>C (p.Val143Ala) | |
| 5 | g.156594980T>G | CA362010478 | SGCD | c.431T>G (p.Val144Gly) c.428T>G (p.Val143Gly) | |
| 5 | g.156594981T>A | CA447388114 | SGCD | c.432T>A (p.Val144=) c.429T>A (p.Val143=) | |
| 5 | g.156594981T>C | CA447388115 | SGCD | c.432T>C (p.Val144=) c.429T>C (p.Val143=) | |
| 5 | g.156594981T>G | CA447388116 | SGCD | c.432T>G (p.Val144=) c.429T>G (p.Val143=) | |
| 5 | g.156594982T>A | CA362010485 | SGCD | c.433T>A (p.Ser145Thr) c.430T>A (p.Ser144Thr) | gnomAD v4 |
| 5 | g.156594982T>C | CA362010482 | SGCD | c.433T>C (p.Ser145Pro) c.430T>C (p.Ser144Pro) | |
| 5 | g.156594982T>G | CA362010481 | SGCD | c.433T>G (p.Ser145Ala) c.430T>G (p.Ser144Ala) | |
| 5 | g.156594983C>A | CA362010488 | SGCD | c.434C>A (p.Ser145Tyr) c.431C>A (p.Ser144Tyr) | |
| 5 | g.156594983C= | CA1593779135 | SGCD | c.434C= (p.Ser145=) c.431C= (p.Ser144=) | |
| 5 | g.156594983C>G | CA362010491 | SGCD | c.434C>G (p.Ser145Cys) c.431C>G (p.Ser144Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156594983C>T | CA362010494 | SGCD | c.434C>T (p.Ser145Phe) c.431C>T (p.Ser144Phe) | |
| 5 | g.156594984T>A | CA447388117 | SGCD | c.435T>A (p.Ser145=) c.432T>A (p.Ser144=) | |
| 5 | g.156594984T>C | CA447388118 | SGCD | c.435T>C (p.Ser145=) c.432T>C (p.Ser144=) | |
| 5 | g.156594984T>G | CA447388119 | SGCD | c.435T>G (p.Ser145=) c.432T>G (p.Ser144=) | gnomAD v4 |
| 5 | g.156594985G>A | CA362010498 | SGCD | c.436G>A (p.Gly146Arg) c.433G>A (p.Gly145Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594985G>C | CA362010500 | SGCD | c.436G>C (p.Gly146Arg) c.433G>C (p.Gly145Arg) | |
| 5 | g.156594985G= | CA1593779136 | SGCD | c.436G= (p.Gly146=) c.433G= (p.Gly145=) | |
| 5 | g.156594985G>T | CA362010503 | SGCD | c.436G>T (p.Gly146Ter) c.433G>T (p.Gly145Ter) | |
| 5 | g.156594986G>A | CA362010506 | SGCD | c.437G>A (p.Gly146Glu) c.434G>A (p.Gly145Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.156594986G>C | CA362010515 | SGCD | c.437G>C (p.Gly146Ala) c.434G>C (p.Gly145Ala) | |
| 5 | g.156594986G= | CA1593779137 | SGCD | c.437G= (p.Gly146=) c.434G= (p.Gly145=) | |
| 5 | g.156594986G>T | CA362010517 | SGCD | c.437G>T (p.Gly146Val) c.434G>T (p.Gly145Val) | ClinVar dbSNP |
| 5 | g.156594987A>C | CA447388120 | SGCD | c.438A>C (p.Gly146=) c.435A>C (p.Gly145=) | |
| 5 | g.156594987A>G | CA447388121 | SGCD | c.438A>G (p.Gly146=) c.435A>G (p.Gly145=) | |
| 5 | g.156594987A>T | CA447388122 | SGCD | c.438A>T (p.Gly146=) c.435A>T (p.Gly145=) | |
| 5 | g.156594990dup | CA1593779138 | SGCD | c.441dup (p.Leu148IlefsTer8) c.438dup (p.Leu147IlefsTer8) | ClinVar dbSNP |
| 5 | g.156594988A>C | CA362010521 | SGCD | c.439A>C (p.Lys147Gln) c.436A>C (p.Lys146Gln) | |
| 5 | g.156594988A>G | CA362010522 | SGCD | c.439A>G (p.Lys147Glu) c.436A>G (p.Lys146Glu) | |
| 5 | g.156594988A>T | CA362010523 | SGCD | c.439A>T (p.Lys147Ter) c.436A>T (p.Lys146Ter) | |
| 5 | g.156594989A>C | CA362010526 | SGCD | c.440A>C (p.Lys147Thr) c.437A>C (p.Lys146Thr) | gnomAD v4 |
| 5 | g.156594989A>G | CA362010533 | SGCD | c.440A>G (p.Lys147Arg) c.437A>G (p.Lys146Arg) | |
| 5 | g.156594989A>T | CA362010531 | SGCD | c.440A>T (p.Lys147Ile) c.437A>T (p.Lys146Ile) | |
| 5 | g.156594990A>C | CA362010535 | SGCD | c.441A>C (p.Lys147Asn) c.438A>C (p.Lys146Asn) | gnomAD v4 |
| 5 | g.156594990A>G | CA447388123 | SGCD | c.441A>G (p.Lys147=) c.438A>G (p.Lys146=) | gnomAD v4 |
| 5 | g.156594990A>T | CA362010536 | SGCD | c.441A>T (p.Lys147Asn) c.438A>T (p.Lys146Asn) | |
| 5 | g.156594991T>A | CA362010537 | SGCD | c.442T>A (p.Leu148Met) c.439T>A (p.Leu147Met) | gnomAD v4 |
| 5 | g.156594991T>C | CA447388124 | SGCD | c.442T>C (p.Leu148=) c.439T>C (p.Leu147=) | |
| 5 | g.156594991T>G | CA362010538 | SGCD | c.442T>G (p.Leu148Val) c.439T>G (p.Leu147Val) | |
| 5 | g.156594992T>A | CA10605547 | SGCD | c.443T>A (p.Leu148Ter) c.440T>A (p.Leu147Ter) | ClinVar dbSNP |
| 5 | g.156594992T>C | CA362010544 | SGCD | c.443T>C (p.Leu148Ser) c.440T>C (p.Leu147Ser) | |
| 5 | g.156594992T>G | CA362010547 | SGCD | c.443T>G (p.Leu148Trp) c.440T>G (p.Leu147Trp) | gnomAD v4 |
| 5 | g.156594992T= | CA1593779139 | SGCD | c.443T= (p.Leu148=) c.440T= (p.Leu147=) | |
| 5 | g.156594993G>A | CA447388125 | SGCD | c.444G>A (p.Leu148=) c.441G>A (p.Leu147=) | |
| 5 | g.156594993G>C | CA362010551 | SGCD | c.444G>C (p.Leu148Phe) c.441G>C (p.Leu147Phe) | |
| 5 | g.156594993G>T | CA362010554 | SGCD | c.444G>T (p.Leu148Phe) c.441G>T (p.Leu147Phe) | gnomAD v4 COSMIC COSMIC |
| 5 | g.156594994C>A | CA362010561 | SGCD | c.445C>A (p.Leu149Ile) c.442C>A (p.Leu148Ile) | |
| 5 | g.156594994C= | CA1593779140 | SGCD | c.445C= (p.Leu149=) c.442C= (p.Leu148=) | |
| 5 | g.156594994C>G | CA3530599 | SGCD | c.445C>G (p.Leu149Val) c.442C>G (p.Leu148Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156594994C>T | CA362010558 | SGCD | c.445C>T (p.Leu149Phe) c.442C>T (p.Leu148Phe) | gnomAD v4 |
| 5 | g.156594995T>A | CA362010564 | SGCD | c.446T>A (p.Leu149His) c.443T>A (p.Leu148His) | |
| 5 | g.156594995T>C | CA362010565 | SGCD | c.446T>C (p.Leu149Pro) c.443T>C (p.Leu148Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156594995T>G | CA362010566 | SGCD | c.446T>G (p.Leu149Arg) c.443T>G (p.Leu148Arg) | |
| 5 | g.156594995T= | CA1593779141 | SGCD | c.446T= (p.Leu149=) c.443T= (p.Leu148=) | |
| 5 | g.156594996C>A | CA447388126 | SGCD | c.447C>A (p.Leu149=) c.444C>A (p.Leu148=) | |
| 5 | g.156594996C= | CA1593779142 | SGCD | c.447C= (p.Leu149=) c.444C= (p.Leu148=) | |
| 5 | g.156594996C>G | CA447388128 | SGCD | c.447C>G (p.Leu149=) c.444C>G (p.Leu148=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156594996C>T | CA447388127 | SGCD | c.447C>T (p.Leu149=) c.444C>T (p.Leu148=) | ClinVar gnomAD v4 |
| 5 | g.156594997T>A | CA362010567 | SGCD | c.448T>A (p.Phe150Ile) c.445T>A (p.Phe149Ile) | |
| 5 | g.156594997T>C | CA362010568 | SGCD | c.448T>C (p.Phe150Leu) c.445T>C (p.Phe149Leu) | gnomAD v4 |
| 5 | g.156594997T>G | CA362010570 | SGCD | c.448T>G (p.Phe150Val) c.445T>G (p.Phe149Val) | |
| 5 | g.156594998T>A | CA362010572 | SGCD | c.449T>A (p.Phe150Tyr) c.446T>A (p.Phe149Tyr) | |
| 5 | g.156594998T>C | CA362010574 | SGCD | c.449T>C (p.Phe150Ser) c.446T>C (p.Phe149Ser) | gnomAD v4 |
| 5 | g.156594998T>G | CA362010575 | SGCD | c.449T>G (p.Phe150Cys) c.446T>G (p.Phe149Cys) | |
| 5 | g.156594999C>A | CA362010577 | SGCD | c.450C>A (p.Phe150Leu) c.447C>A (p.Phe149Leu) | |
| 5 | g.156594999C>G | CA362010580 | SGCD | c.450C>G (p.Phe150Leu) c.447C>G (p.Phe149Leu) | COSMIC |
| 5 | g.156594999C>T | CA447388129 | SGCD | c.450C>T (p.Phe150=) c.447C>T (p.Phe149=) | |
| 5 | g.156595000T>A | CA362010588 | SGCD | c.451T>A (p.Ser151Thr) c.448T>A (p.Ser150Thr) | |
| 5 | g.156595000T>C | CA362010583 | SGCD | c.451T>C (p.Ser151Pro) c.448T>C (p.Ser150Pro) | gnomAD v4 |
| 5 | g.156595000T>G | CA119347 | SGCD | c.451T>G (p.Ser151Ala) c.448T>G (p.Ser150Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156595000T= | CA1593779143 | SGCD | c.451T= (p.Ser151=) c.448T= (p.Ser150=) | |
| 5 | g.156595001C>A | CA362010589 | SGCD | c.452C>A (p.Ser151Tyr) c.449C>A (p.Ser150Tyr) | |
| 5 | g.156595001C= | CA1593779144 | SGCD | c.452C= (p.Ser151=) c.449C= (p.Ser150=) | |
| 5 | g.156595001C>G | CA362010590 | SGCD | c.452C>G (p.Ser151Cys) c.449C>G (p.Ser150Cys) | gnomAD v4 COSMIC |
| 5 | g.156595001C>T | CA3530600 | SGCD | c.452C>T (p.Ser151Phe) c.449C>T (p.Ser150Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156595002T>A | CA447388130 | SGCD | c.453T>A (p.Ser151=) c.450T>A (p.Ser150=) | |
| 5 | g.156595002T>C | CA447388131 | SGCD | c.453T>C (p.Ser151=) c.450T>C (p.Ser150=) | |
| 5 | g.156595002T>G | CA447388132 | SGCD | c.453T>G (p.Ser151=) c.450T>G (p.Ser150=) | |
| 5 | g.156595003G>A | CA362010592 | SGCD | c.454G>A (p.Ala152Thr) c.451G>A (p.Ala151Thr) | dbSNP gnomAD v2 |
| 5 | g.156595003G>C | CA362010594 | SGCD | c.454G>C (p.Ala152Pro) c.451G>C (p.Ala151Pro) | |
| 5 | g.156595003G= | CA1593779145 | SGCD | c.454G= (p.Ala152=) c.451G= (p.Ala151=) | |
| 5 | g.156595003G>T | CA362010595 | SGCD | c.454G>T (p.Ala152Ser) c.451G>T (p.Ala151Ser) | |
| 5 | g.156595004C>A | CA362010600 | SGCD | c.455C>A (p.Ala152Glu) c.452C>A (p.Ala151Glu) | COSMIC |
| 5 | g.156595004C>G | CA362010603 | SGCD | c.455C>G (p.Ala152Gly) c.452C>G (p.Ala151Gly) | |
| 5 | g.156595004C>T | CA362010605 | SGCD | c.455C>T (p.Ala152Val) c.452C>T (p.Ala151Val) | |
| 5 | g.156595005A>C | CA447388135 | SGCD | c.456A>C (p.Ala152=) c.453A>C (p.Ala151=) | |
| 5 | g.156595005A>G | CA447388133 | SGCD | c.456A>G (p.Ala152=) c.453A>G (p.Ala151=) | |
| 5 | g.156595005A>T | CA447388134 | SGCD | c.456A>T (p.Ala152=) c.453A>T (p.Ala151=) | |
| 5 | g.156595006G>A | CA362010610 | SGCD | c.457G>A (p.Asp153Asn) c.454G>A (p.Asp152Asn) | |
| 5 | g.156595006G>C | CA362010613 | SGCD | c.457G>C (p.Asp153His) c.454G>C (p.Asp152His) | |
| 5 | g.156595006G>T | CA362010612 | SGCD | c.457G>T (p.Asp153Tyr) c.454G>T (p.Asp152Tyr) | COSMIC COSMIC |
| 5 | g.156595007A= | CA1593779146 | SGCD | c.458A= (p.Asp153=) c.455A= (p.Asp152=) | |
| 5 | g.156595007A>C | CA362010614 | SGCD | c.458A>C (p.Asp153Ala) c.455A>C (p.Asp152Ala) | |
| 5 | g.156595007A>G | CA3530601 | SGCD | c.458A>G (p.Asp153Gly) c.455A>G (p.Asp152Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156595007A>T | CA362010615 | SGCD | c.458A>T (p.Asp153Val) c.455A>T (p.Asp152Val) | |
| 5 | g.156595008C>A | CA362010618 | SGCD | c.459C>A (p.Asp153Glu) c.456C>A (p.Asp152Glu) | |
| 5 | g.156595008C>G | CA362010619 | SGCD | c.459C>G (p.Asp153Glu) c.456C>G (p.Asp152Glu) | |
| 5 | g.156595008C>T | CA447388136 | SGCD | c.459C>T (p.Asp153=) c.456C>T (p.Asp152=) | |
| 5 | g.156595009A>C | CA362010620 | SGCD | c.460A>C (p.Asn154His) c.457A>C (p.Asn153His) | |
| 5 | g.156595009A>G | CA362010621 | SGCD | c.460A>G (p.Asn154Asp) c.457A>G (p.Asn153Asp) | |
| 5 | g.156595009A>T | CA362010622 | SGCD | c.460A>T (p.Asn154Tyr) c.457A>T (p.Asn153Tyr) | |
| 5 | g.156595010A= | CA1593779147 | SGCD | c.461A= (p.Asn154=) c.458A= (p.Asn153=) | |
| 5 | g.156595010A>C | CA362010624 | SGCD | c.461A>C (p.Asn154Thr) c.458A>C (p.Asn153Thr) | |
| 5 | g.156595010A>G | CA3530602 | SGCD | c.461A>G (p.Asn154Ser) c.458A>G (p.Asn153Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156595010A>T | CA362010629 | SGCD | c.461A>T (p.Asn154Ile) c.458A>T (p.Asn153Ile) | |
| 5 | g.156595011T>A | CA362010635 | SGCD | c.462T>A (p.Asn154Lys) c.459T>A (p.Asn153Lys) | |
| 5 | g.156595011T>C | CA447388137 | SGCD | c.462T>C (p.Asn154=) c.459T>C (p.Asn153=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.156595011T>G | CA362010633 | SGCD | c.462T>G (p.Asn154Lys) c.459T>G (p.Asn153Lys) | |
| 5 | g.156595011T= | CA1593779148 | SGCD | c.462T= (p.Asn154=) c.459T= (p.Asn153=) | |
| 5 | g.156595012A>C | CA362010639 | SGCD | c.463A>C (p.Asn155His) c.460A>C (p.Asn154His) | |
| 5 | g.156595012A>G | CA362010642 | SGCD | c.463A>G (p.Asn155Asp) c.460A>G (p.Asn154Asp) | |
| 5 | g.156595012A>T | CA362010644 | SGCD | c.463A>T (p.Asn155Tyr) c.460A>T (p.Asn154Tyr) | |
| 5 | g.156595013A>C | CA362010652 | SGCD | c.464A>C (p.Asn155Thr) c.461A>C (p.Asn154Thr) | |
| 5 | g.156595013A>G | CA362010654 | SGCD | c.464A>G (p.Asn155Ser) c.461A>G (p.Asn154Ser) | dbSNP gnomAD v4 |
| 5 | g.156595013A>T | CA362010656 | SGCD | c.464A>T (p.Asn155Ile) c.461A>T (p.Asn154Ile) | |
| 5 | g.156595014T>A | CA362010661 | SGCD | c.465T>A (p.Asn155Lys) c.462T>A (p.Asn154Lys) | |
| 5 | g.156595014T>C | CA130623682 | SGCD | c.465T>C (p.Asn155=) c.462T>C (p.Asn154=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156595014T>G | CA362010665 | SGCD | c.465T>G (p.Asn155Lys) c.462T>G (p.Asn154Lys) | gnomAD v4 |
| 5 | g.156595014T= | CA1593779149 | SGCD | c.465T= (p.Asn155=) c.462T= (p.Asn154=) | |
| 5 | g.156595015G>A | CA362010670 | SGCD | c.466G>A (p.Glu156Lys) c.463G>A (p.Glu155Lys) | |
| 5 | g.156595015G>C | CA362010674 | SGCD | c.466G>C (p.Glu156Gln) c.463G>C (p.Glu155Gln) | |
| 5 | g.156595015G>T | CA362010668 | SGCD | c.466G>T (p.Glu156Ter) c.463G>T (p.Glu155Ter) | ClinVar dbSNP |
| 5 | g.156595016A>C | CA362010677 | SGCD | c.467A>C (p.Glu156Ala) c.464A>C (p.Glu155Ala) | |
| 5 | g.156595016A>G | CA362010680 | SGCD | c.467A>G (p.Glu156Gly) c.464A>G (p.Glu155Gly) | ClinVar |
| 5 | g.156595016A>T | CA362010683 | SGCD | c.467A>T (p.Glu156Val) c.464A>T (p.Glu155Val) | |
| 5 | g.156595017A= | CA1593779150 | SGCD | c.468A= (p.Glu156=) c.465A= (p.Glu155=) | |
| 5 | g.156595017A>C | CA3530603 | SGCD | c.468A>C (p.Glu156Asp) c.465A>C (p.Glu155Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156595017A>G | CA447388138 | SGCD | c.468A>G (p.Glu156=) c.465A>G (p.Glu155=) | ClinVar |
| 5 | g.156595017A>T | CA362010689 | SGCD | c.468A>T (p.Glu156Asp) c.465A>T (p.Glu155Asp) | |
| 5 | g.156595018G>A | CA362010695 | SGCD | c.469G>A (p.Val157Met) c.466G>A (p.Val156Met) | ClinVar dbSNP gnomAD v4 |
| 5 | g.156595018G>C | CA362010696 | SGCD | c.469G>C (p.Val157Leu) c.466G>C (p.Val156Leu) | |
| 5 | g.156595018G>T | CA362010698 | SGCD | c.469G>T (p.Val157Leu) c.466G>T (p.Val156Leu) | |
| 5 | g.156595019T>A | CA362010700 | SGCD | c.470T>A (p.Val157Glu) c.467T>A (p.Val156Glu) | |
| 5 | g.156595019T>C | CA362010704 | SGCD | c.470T>C (p.Val157Ala) c.467T>C (p.Val156Ala) | |
| 5 | g.156595019T>G | CA362010706 | SGCD | c.470T>G (p.Val157Gly) c.467T>G (p.Val156Gly) | |
| 5 | g.156595019_156595022dup | CA2676178500 | SGCD | c.470_473dup (p.Val159GlyfsTer5) c.467_470dup (p.Val158GlyfsTer5) | gnomAD v4 |
| 5 | g.156595020G>A | CA447388139 | SGCD | c.471G>A (p.Val157=) c.468G>A (p.Val156=) | ClinVar gnomAD v4 |
| 5 | g.156595020G>C | CA447388140 | SGCD | c.471G>C (p.Val157=) c.468G>C (p.Val156=) | dbSNP gnomAD v2 |
| 5 | g.156595020G= | CA1593779151 | SGCD | c.471G= (p.Val157=) c.468G= (p.Val156=) | |
| 5 | g.156595020G>T | CA447388141 | SGCD | c.471G>T (p.Val157=) c.468G>T (p.Val156=) | gnomAD v4 |
| 5 | g.156595021G>A | CA3530604 | SGCD | c.472G>A (p.Val158Ile) c.469G>A (p.Val157Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156595021G>C | CA362010715 | SGCD | c.472G>C (p.Val158Leu) c.469G>C (p.Val157Leu) | COSMIC COSMIC |
| 5 | g.156595021G= | CA1593779152 | SGCD | c.472G= (p.Val158=) c.469G= (p.Val157=) | |
| 5 | g.156595021G>T | CA362010712 | SGCD | c.472G>T (p.Val158Leu) c.469G>T (p.Val157Leu) | gnomAD v4 |
| 5 | g.156595022T>A | CA362010718 | SGCD | c.473T>A (p.Val158Glu) c.470T>A (p.Val157Glu) | |
| 5 | g.156595022T>C | CA362010721 | SGCD | c.473T>C (p.Val158Ala) c.470T>C (p.Val157Ala) | |
| 5 | g.156595022T>G | CA362010724 | SGCD | c.473T>G (p.Val158Gly) c.470T>G (p.Val157Gly) | |
| 5 | g.156595023A>C | CA447388142 | SGCD | c.474A>C (p.Val158=) c.471A>C (p.Val157=) | |
| 5 | g.156595023A>G | CA447388143 | SGCD | c.474A>G (p.Val158=) c.471A>G (p.Val157=) | |
| 5 | g.156595023A>T | CA447388144 | SGCD | c.474A>T (p.Val158=) c.471A>T (p.Val157=) | |
| 5 | g.156595024G>A | CA10623665 | SGCD | c.475G>A (p.Val159Ile) c.472G>A (p.Val158Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156595024G>C | CA362010729 | SGCD | c.475G>C (p.Val159Leu) c.472G>C (p.Val158Leu) | dbSNP |
| 5 | g.156595024G= | CA1593779153 | SGCD | c.475G= (p.Val159=) c.472G= (p.Val158=) | |
| 5 | g.156595024G>T | CA362010732 | SGCD | c.475G>T (p.Val159Leu) c.472G>T (p.Val158Leu) | |
| 5 | g.156595025T>A | CA362010735 | SGCD | c.476T>A (p.Val159Glu) c.473T>A (p.Val158Glu) | |
| 5 | g.156595025T>C | CA362010736 | SGCD | c.476T>C (p.Val159Ala) c.473T>C (p.Val158Ala) | |
| 5 | g.156595025T>G | CA362010737 | SGCD | c.476T>G (p.Val159Gly) c.473T>G (p.Val158Gly) | |
| 5 | g.156595026A= | CA1593779154 | SGCD | c.477A= (p.Val159=) c.474A= (p.Val158=) | |
| 5 | g.156595026A>C | CA447388146 | SGCD | c.477A>C (p.Val159=) c.474A>C (p.Val158=) | |
| 5 | g.156595026A>G | CA3530605 | SGCD | c.477A>G (p.Val159=) c.474A>G (p.Val158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156595026A>T | CA447388145 | SGCD | c.477A>T (p.Val159=) c.474A>T (p.Val158=) | |
| 5 | g.156595027G>A | CA362010742 | SGCD | c.478G>A (p.Gly160Arg) c.475G>A (p.Gly159Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.156595027G>C | CA362010739 | SGCD | c.478G>C (p.Gly160Arg) c.475G>C (p.Gly159Arg) | |
| 5 | g.156595027G= | CA1593779155 | SGCD | c.478G= (p.Gly160=) c.475G= (p.Gly159=) | |
| 5 | g.156595027G>T | CA362010743 | SGCD | c.478G>T (p.Gly160Ter) c.475G>T (p.Gly159Ter) | |
| 5 | g.156595028G>A | CA362010745 | SGCD | c.479G>A (p.Gly160Glu) c.476G>A (p.Gly159Glu) | |
| 5 | g.156595028G>C | CA362010750 | SGCD | c.479G>C (p.Gly160Ala) c.476G>C (p.Gly159Ala) | |
| 5 | g.156595028G>T | CA362010748 | SGCD | c.479G>T (p.Gly160Val) c.476G>T (p.Gly159Val) | COSMIC COSMIC |
| 5 | g.156595030_156595034dup | CA563937680 | SGCD | c.481_485dup (p.Arg163LeufsTer7) c.478_482dup (p.Arg162LeufsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156595029A= | CA1593779156 | SGCD | c.480A= (p.Gly160=) c.477A= (p.Gly159=) | |
| 5 | g.156595029A>C | CA447388147 | SGCD | c.480A>C (p.Gly160=) c.477A>C (p.Gly159=) | |
| 5 | g.156595029A>G | CA447388148 | SGCD | c.480A>G (p.Gly160=) c.477A>G (p.Gly159=) | |
| 5 | g.156595029A>T | CA447388149 | SGCD | c.480A>T (p.Gly160=) c.477A>T (p.Gly159=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.156595030G>A | CA10606094 | SGCD | c.481G>A (p.Ala161Thr) c.478G>A (p.Ala160Thr) | ClinVar dbSNP |
| 5 | g.156595030G>C | CA362010758 | SGCD | c.481G>C (p.Ala161Pro) c.478G>C (p.Ala160Pro) | |
| 5 | g.156595030G= | CA1593779157 | SGCD | c.481G= (p.Ala161=) c.478G= (p.Ala160=) | |
| 5 | g.156595030G>T | CA362010755 | SGCD | c.481G>T (p.Ala161Ser) c.478G>T (p.Ala160Ser) | |
| 5 | g.156595031C>A | CA362010761 | SGCD | c.482C>A (p.Ala161Asp) c.479C>A (p.Ala160Asp) | |
| 5 | g.156595031C>G | CA362010764 | SGCD | c.482C>G (p.Ala161Gly) c.479C>G (p.Ala160Gly) | |
| 5 | g.156595031C>T | CA362010765 | SGCD | c.482C>T (p.Ala161Val) c.479C>T (p.Ala160Val) | |
| 5 | g.156595032T>A | CA447388150 | SGCD | c.483T>A (p.Ala161=) c.480T>A (p.Ala160=) | ClinVar COSMIC |
| 5 | g.156595032T>C | CA447388151 | SGCD | c.483T>C (p.Ala161=) c.480T>C (p.Ala160=) | |
| 5 | g.156595032T>G | CA447388152 | SGCD | c.483T>G (p.Ala161=) c.480T>G (p.Ala160=) | |
| 5 | g.156595033G>A | CA362010769 | SGCD | c.484G>A (p.Glu162Lys) c.481G>A (p.Glu161Lys) | gnomAD v4 |
| 5 | g.156595033G>C | CA362010771 | SGCD | c.484G>C (p.Glu162Gln) c.481G>C (p.Glu161Gln) | |
| 5 | g.156595033G>T | CA362010773 | SGCD | c.484G>T (p.Glu162Ter) c.481G>T (p.Glu161Ter) | |
| 5 | g.156595034A>C | CA362010776 | SGCD | c.485A>C (p.Glu162Ala) c.482A>C (p.Glu161Ala) | |
| 5 | g.156595034A>G | CA362010778 | SGCD | c.485A>G (p.Glu162Gly) c.482A>G (p.Glu161Gly) | |
| 5 | g.156595034A>T | CA362010779 | SGCD | c.485A>T (p.Glu162Val) c.482A>T (p.Glu161Val) | |
| 5 | g.156595035A= | CA1593779158 | SGCD | c.486A= (p.Glu162=) c.483A= (p.Glu161=) | |
| 5 | g.156595035A>C | CA362010784 | SGCD | c.486A>C (p.Glu162Asp) c.483A>C (p.Glu161Asp) | |
| 5 | g.156595035A>G | CA447388153 | SGCD | c.486A>G (p.Glu162=) c.483A>G (p.Glu161=) | dbSNP |
| 5 | g.156595035A>T | CA362010782 | SGCD | c.486A>T (p.Glu162Asp) c.483A>T (p.Glu161Asp) | |
| 5 | g.156595036A>C | CA447388154 | SGCD | c.487A>C (p.Arg163=) c.484A>C (p.Arg162=) | |
| 5 | g.156595036A>G | CA362010787 | SGCD | c.487A>G (p.Arg163Gly) c.484A>G (p.Arg162Gly) | |
| 5 | g.156595036A>T | CA362010789 | SGCD | c.487A>T (p.Arg163Ter) c.484A>T (p.Arg162Ter) | |
| 5 | g.156595037G>A | CA362010792 | SGCD | c.488G>A (p.Arg163Lys) c.485G>A (p.Arg162Lys) | ClinVar gnomAD v4 |
| 5 | g.156595037G>C | CA362010794 | SGCD | c.488G>C (p.Arg163Thr) c.485G>C (p.Arg162Thr) | |
| 5 | g.156595037G= | CA1593779159 | SGCD | c.488G= (p.Arg163=) c.485G= (p.Arg162=) | |
| 5 | g.156595037G>T | CA3530606 | SGCD | c.488G>T (p.Arg163Ile) c.485G>T (p.Arg162Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156595038A= | CA1593779160 | SGCD | c.489A= (p.Arg163=) c.486A= (p.Arg162=) | |
| 5 | g.156595038A>C | CA362010797 | SGCD | c.489A>C (p.Arg163Ser) c.486A>C (p.Arg162Ser) | |
| 5 | g.156595038A>G | CA447388155 | SGCD | c.489A>G (p.Arg163=) c.486A>G (p.Arg162=) | dbSNP gnomAD v4 |
| 5 | g.156595038A>T | CA362010799 | SGCD | c.489A>T (p.Arg163Ser) c.486A>T (p.Arg162Ser) | |
| 5 | g.156595039T>A | CA362010802 | SGCD | c.490T>A (p.Leu164Ile) c.487T>A (p.Leu163Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156595039T>C | CA447388156 | SGCD | c.490T>C (p.Leu164=) c.487T>C (p.Leu163=) | gnomAD v4 |
| 5 | g.156595039T>G | CA362010804 | SGCD | c.490T>G (p.Leu164Val) c.487T>G (p.Leu163Val) | |
| 5 | g.156595039T= | CA1593779161 | SGCD | c.490T= (p.Leu164=) c.487T= (p.Leu163=) | |
| 5 | g.156595040T>A | CA362010811 | SGCD | c.491T>A (p.Leu164Ter) c.488T>A (p.Leu163Ter) | |
| 5 | g.156595040T>C | CA362010809 | SGCD | c.491T>C (p.Leu164Ser) c.488T>C (p.Leu163Ser) | ClinVar dbSNP |
| 5 | g.156595040T>G | CA362010807 | SGCD | c.491T>G (p.Leu164Ter) c.488T>G (p.Leu163Ter) | |
| 5 | g.156595041A>C | CA362010815 | SGCD | c.492A>C (p.Leu164Phe) c.489A>C (p.Leu163Phe) | |
| 5 | g.156595041A>G | CA447388157 | SGCD | c.492A>G (p.Leu164=) c.489A>G (p.Leu163=) | |
| 5 | g.156595041A>T | CA362010813 | SGCD | c.492A>T (p.Leu164Phe) c.489A>T (p.Leu163Phe) | |
| 5 | g.156595042C>A | CA447388158 | SGCD | c.493C>A (p.Arg165=) c.490C>A (p.Arg164=) | gnomAD v4 |
| 5 | g.156595042C= | CA1593779162 | SGCD | c.493C= (p.Arg165=) c.490C= (p.Arg164=) | |
| 5 | g.156595042C>G | CA3530607 | SGCD | c.493C>G (p.Arg165Gly) c.490C>G (p.Arg164Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.156595042C>T | CA340747 | SGCD | c.493C>T (p.Arg165Ter) c.490C>T (p.Arg164Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156595043G>A | CA177977 | SGCD | c.494G>A (p.Arg165Gln) c.491G>A (p.Arg164Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.156595043G>C | CA362010822 | SGCD | c.494G>C (p.Arg165Pro) c.491G>C (p.Arg164Pro) | |
| 5 | g.156595043G= | CA1593779163 | SGCD | c.494G= (p.Arg165=) c.491G= (p.Arg164=) | |
| 5 | g.156595043G>T | CA362010824 | SGCD | c.494G>T (p.Arg165Leu) c.491G>T (p.Arg164Leu) | |
| 5 | g.156595044A>C | CA447388159 | SGCD | c.495A>C (p.Arg165=) c.492A>C (p.Arg164=) | |
| 5 | g.156595044A>G | CA447388160 | SGCD | c.495A>G (p.Arg165=) c.492A>G (p.Arg164=) | |
| 5 | g.156595044A>T | CA447388161 | SGCD | c.495A>T (p.Arg165=) c.492A>T (p.Arg164=) | gnomAD v4 |
| 5 | g.156595045G>A | CA362010826 | SGCD | c.496G>A (p.Val166Ile) c.493G>A (p.Val165Ile) | dbSNP gnomAD v2 |
| 5 | g.156595045G>C | CA362010827 | SGCD | c.496G>C (p.Val166Leu) c.493G>C (p.Val165Leu) | |
| 5 | g.156595045G= | CA1593779164 | SGCD | c.496G= (p.Val166=) c.493G= (p.Val165=) | |
| 5 | g.156595045G>T | CA362010830 | SGCD | c.496G>T (p.Val166Phe) c.493G>T (p.Val165Phe) | |
| 5 | g.156595046T>A | CA362010838 | SGCD | c.497T>A (p.Val166Asp) c.494T>A (p.Val165Asp) | |
| 5 | g.156595046T>C | CA362010835 | SGCD | c.497T>C (p.Val166Ala) c.494T>C (p.Val165Ala) | gnomAD v4 |
| 5 | g.156595046T>G | CA362010833 | SGCD | c.497T>G (p.Val166Gly) c.494T>G (p.Val165Gly) | |
| 5 | g.156595047T>A | CA447388164 | SGCD | c.498T>A (p.Val166=) c.495T>A (p.Val165=) | |
| 5 | g.156595047T>C | CA447388163 | SGCD | c.498T>C (p.Val166=) c.495T>C (p.Val165=) | |
| 5 | g.156595047T>G | CA447388162 | SGCD | c.498T>G (p.Val166=) c.495T>G (p.Val165=) | |
| 5 | g.156595048T>A | CA362010840 | SGCD | c.499T>A (p.Leu167Ile) c.496T>A (p.Leu166Ile) | |
| 5 | g.156595048T>C | CA447388165 | SGCD | c.499T>C (p.Leu167=) c.496T>C (p.Leu166=) | |
| 5 | g.156595048T>G | CA362010842 | SGCD | c.499T>G (p.Leu167Val) c.496T>G (p.Leu166Val) | |
| 5 | g.156595049T>A | CA362010845 | SGCD | c.500T>A (p.Leu167Ter) c.497T>A (p.Leu166Ter) | |
| 5 | g.156595049T>C | CA362010848 | SGCD | c.500T>C (p.Leu167Ser) c.497T>C (p.Leu166Ser) | gnomAD v4 |
| 5 | g.156595049T>G | CA362010850 | SGCD | c.500T>G (p.Leu167Ter) c.497T>G (p.Leu166Ter) | |
| 5 | g.156595050A= | CA1593779165 | SGCD | c.501A= (p.Leu167=) c.498A= (p.Leu166=) | |
| 5 | g.156595050A>C | CA362010852 | SGCD | c.501A>C (p.Leu167Phe) c.498A>C (p.Leu166Phe) | |
| 5 | g.156595050A>G | CA447388166 | SGCD | c.501A>G (p.Leu167=) c.498A>G (p.Leu166=) | ClinVar dbSNP |
| 5 | g.156595050A>T | CA362010854 | SGCD | c.501A>T (p.Leu167Phe) c.498A>T (p.Leu166Phe) | |
| 5 | g.156595051G>A | CA362010856 | SGCD | c.502G>A (p.Gly168Arg) c.499G>A (p.Gly167Arg) c.502G>A (p.Gly168Ser) | |
| 5 | g.156595051G>C | CA362010859 | SGCD | c.502G>C (p.Gly168Arg) c.499G>C (p.Gly167Arg) | gnomAD v4 |
| 5 | g.156595051G>T | CA362010861 | SGCD | c.502G>T (p.Gly168Ter) c.499G>T (p.Gly167Ter) c.502G>T (p.Gly168Cys) |