Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.156647520C>A | CA130630239 | SGCD | c.559C>A (p.Pro187Thr) c.556C>A (p.Pro186Thr) c.502+52469C>A (n.502+52469C>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.156647520C= | CA1593805121 | SGCD | c.559C= (p.Pro187=) c.556C= (p.Pro186=) c.502+52469C= (n.502+52469C=) | |
5 | g.156647520C>G | CA362008272 | SGCD | c.559C>G (p.Pro187Ala) c.556C>G (p.Pro186Ala) c.502+52469C>G (n.502+52469C>G) | |
5 | g.156647520C>T | CA16611802 | SGCD | c.559C>T (p.Pro187Ser) c.556C>T (p.Pro186Ser) c.502+52469C>T (n.502+52469C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.156647521C>A | CA362008273 | SGCD | c.560C>A (p.Pro187His) c.557C>A (p.Pro186His) c.502+52470C>A (n.502+52470C>A) | gnomAD v4 |
5 | g.156647521C>G | CA362008274 | SGCD | c.560C>G (p.Pro187Arg) c.557C>G (p.Pro186Arg) c.502+52470C>G (n.502+52470C>G) | |
5 | g.156647521C>T | CA362008275 | SGCD | c.560C>T (p.Pro187Leu) c.557C>T (p.Pro186Leu) c.502+52470C>T (n.502+52470C>T) | gnomAD v4 |
5 | g.156647522C>A | CA447388231 | SGCD | c.561C>A (p.Pro187=) c.558C>A (p.Pro186=) c.502+52471C>A (n.502+52471C>A) | gnomAD v4 |
5 | g.156647522C>G | CA447388232 | SGCD | c.561C>G (p.Pro187=) c.558C>G (p.Pro186=) c.502+52471C>G (n.502+52471C>G) | |
5 | g.156647522C>T | CA447388233 | SGCD | c.561C>T (p.Pro187=) c.558C>T (p.Pro186=) c.502+52471C>T (n.502+52471C>T) | gnomAD v4 |
5 | g.156647522_156647523delinsCT | CA1593805122 | SGCD | c.561_562delinsCT (p.Pro187=) c.558_559delinsCT (p.Pro186=) c.502+52471_502+52472delinsCT (n.502+52471_502+52472delinsCT) | |
5 | g.156647523T>A | CA362008276 | SGCD | c.562T>A (p.Phe188Ile) c.559T>A (p.Phe187Ile) c.502+52472T>A (n.502+52472T>A) | gnomAD v4 |
5 | g.156647523T>C | CA362008277 | SGCD | c.562T>C (p.Phe188Leu) c.559T>C (p.Phe187Leu) c.502+52472T>C (n.502+52472T>C) | gnomAD v4 |
5 | g.156647523T>G | CA362008278 | SGCD | c.562T>G (p.Phe188Val) c.559T>G (p.Phe187Val) c.502+52472T>G (n.502+52472T>G) | dbSNP |
5 | g.156647523T= | CA1593805124 | SGCD | c.562T= (p.Phe188=) c.559T= (p.Phe187=) c.502+52472T= (n.502+52472T=) | |
5 | g.156647524del | CA1593805123 | SGCD | c.563del (p.Phe188SerfsTer4) c.560del (p.Phe187SerfsTer4) c.502+52473del (n.502+52473del) | dbSNP gnomAD v4 |
5 | g.156647524T>A | CA362008281 | SGCD | c.563T>A (p.Phe188Tyr) c.560T>A (p.Phe187Tyr) c.502+52473T>A (n.502+52473T>A) | gnomAD v4 |
5 | g.156647524T>C | CA362008279 | SGCD | c.563T>C (p.Phe188Ser) c.560T>C (p.Phe187Ser) c.502+52473T>C (n.502+52473T>C) | gnomAD v4 |
5 | g.156647524T>G | CA362008280 | SGCD | c.563T>G (p.Phe188Cys) c.560T>G (p.Phe187Cys) c.502+52473T>G (n.502+52473T>G) | |
5 | g.156647525C>A | CA362008282 | SGCD | c.564C>A (p.Phe188Leu) c.561C>A (p.Phe187Leu) c.502+52474C>A (n.502+52474C>A) | gnomAD v4 |
5 | g.156647525C>G | CA362008283 | SGCD | c.564C>G (p.Phe188Leu) c.561C>G (p.Phe187Leu) c.502+52474C>G (n.502+52474C>G) | |
5 | g.156647525C>T | CA447388234 | SGCD | c.564C>T (p.Phe188=) c.561C>T (p.Phe187=) c.502+52474C>T (n.502+52474C>T) | gnomAD v4 |
5 | g.156647526A= | CA1593805125 | SGCD | c.565A= (p.Lys189=) c.562A= (p.Lys188=) c.502+52475A= (n.502+52475A=) | |
5 | g.156647526A>C | CA362008284 | SGCD | c.565A>C (p.Lys189Gln) c.562A>C (p.Lys188Gln) c.502+52475A>C (n.502+52475A>C) | |
5 | g.156647526A>G | CA130630240 | SGCD | c.565A>G (p.Lys189Glu) c.562A>G (p.Lys188Glu) c.502+52475A>G (n.502+52475A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.156647526A>T | CA362008285 | SGCD | c.565A>T (p.Lys189Ter) c.562A>T (p.Lys188Ter) c.502+52475A>T (n.502+52475A>T) | |
5 | g.156647527A= | CA1593805126 | SGCD | c.566A= (p.Lys189=) c.563A= (p.Lys188=) c.502+52476A= (n.502+52476A=) | |
5 | g.156647527A>C | CA362008286 | SGCD | c.566A>C (p.Lys189Thr) c.563A>C (p.Lys188Thr) c.502+52476A>C (n.502+52476A>C) | |
5 | g.156647527A>G | CA3530627 | SGCD | c.566A>G (p.Lys189Arg) c.563A>G (p.Lys188Arg) c.502+52476A>G (n.502+52476A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.156647527A>T | CA362008287 | SGCD | c.566A>T (p.Lys189Ile) c.563A>T (p.Lys188Ile) c.502+52476A>T (n.502+52476A>T) | |
5 | g.156647528A>C | CA362008288 | SGCD | c.567A>C (p.Lys189Asn) c.564A>C (p.Lys188Asn) c.502+52477A>C (n.502+52477A>C) | |
5 | g.156647528A>G | CA447388235 | SGCD | c.567A>G (p.Lys189=) c.564A>G (p.Lys188=) c.502+52477A>G (n.502+52477A>G) | dbSNP gnomAD v4 |
5 | g.156647528A>T | CA362008289 | SGCD | c.567A>T (p.Lys189Asn) c.564A>T (p.Lys188Asn) c.502+52477A>T (n.502+52477A>T) | |
5 | g.156647529G>A | CA362008290 | SGCD | c.568G>A (p.Glu190Lys) c.565G>A (p.Glu189Lys) c.502+52478G>A (n.502+52478G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.156647529G>C | CA362008292 | SGCD | c.568G>C (p.Glu190Gln) c.565G>C (p.Glu189Gln) c.502+52478G>C (n.502+52478G>C) | |
5 | g.156647529G= | CA1593805127 | SGCD | c.568G= (p.Glu190=) c.565G= (p.Glu189=) c.502+52478G= (n.502+52478G=) | |
5 | g.156647529G>T | CA362008291 | SGCD | c.568G>T (p.Glu190Ter) c.565G>T (p.Glu189Ter) c.502+52478G>T (n.502+52478G>T) | ClinVar dbSNP gnomAD v4 |
5 | g.156647530A>C | CA362008293 | SGCD | c.569A>C (p.Glu190Ala) c.566A>C (p.Glu189Ala) c.502+52479A>C (n.502+52479A>C) | |
5 | g.156647530A>G | CA362008294 | SGCD | c.569A>G (p.Glu190Gly) c.566A>G (p.Glu189Gly) c.502+52479A>G (n.502+52479A>G) | gnomAD v4 |
5 | g.156647530A>T | CA362008295 | SGCD | c.569A>T (p.Glu190Val) c.566A>T (p.Glu189Val) c.502+52479A>T (n.502+52479A>T) | gnomAD v4 |
5 | g.156647531A>C | CA362008296 | SGCD | c.570A>C (p.Glu190Asp) c.567A>C (p.Glu189Asp) c.502+52480A>C (n.502+52480A>C) | |
5 | g.156647531A>G | CA447388236 | SGCD | c.570A>G (p.Glu190=) c.567A>G (p.Glu189=) c.502+52480A>G (n.502+52480A>G) | gnomAD v4 |
5 | g.156647531A>T | CA362008297 | SGCD | c.570A>T (p.Glu190Asp) c.567A>T (p.Glu189Asp) c.502+52480A>T (n.502+52480A>T) | |
5 | g.156647532C>A | CA362008298 | SGCD | c.571C>A (p.Leu191Ile) c.568C>A (p.Leu190Ile) c.502+52481C>A (n.502+52481C>A) | gnomAD v4 |
5 | g.156647532C>G | CA362008299 | SGCD | c.571C>G (p.Leu191Val) c.568C>G (p.Leu190Val) c.502+52481C>G (n.502+52481C>G) | |
5 | g.156647532C>T | CA447388237 | SGCD | c.571C>T (p.Leu191=) c.568C>T (p.Leu190=) c.502+52481C>T (n.502+52481C>T) | ClinVar gnomAD v4 |
5 | g.156647533T>A | CA362008300 | SGCD | c.572T>A (p.Leu191Gln) c.569T>A (p.Leu190Gln) c.502+52482T>A (n.502+52482T>A) | gnomAD v4 |
5 | g.156647533T>C | CA362008301 | SGCD | c.572T>C (p.Leu191Pro) c.569T>C (p.Leu190Pro) c.502+52482T>C (n.502+52482T>C) | gnomAD v4 |
5 | g.156647533T>G | CA362008302 | SGCD | c.572T>G (p.Leu191Arg) c.569T>G (p.Leu190Arg) c.502+52482T>G (n.502+52482T>G) | |
5 | g.156647533_156647534del | CA2578464808 | SGCD | c.572_573del (p.Leu191GlnfsTer?) c.569_570del (p.Leu190GlnfsTer?) c.502+52482_502+52483del (n.502+52482_502+52483del) |