Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.148996860_148996876del | CA2658555 | GYG1 | c.437_453del (p.Tyr146SerfsTer4) c.299_315del (p.Tyr100SerfsTer4) n.30_46del c.260_276del (p.Tyr87SerfsTer4) | dbSNP ExAC gnomAD v2 |
3 | g.148996872_148996876dup | CA2668125297 | GYG1 | c.449_453dup (p.Leu152CysfsTer18) c.449_453dup (p.Leu152CysfsTer14) c.449_453dup (p.Leu152CysfsTer29) c.311_315dup (p.Leu106CysfsTer?) n.42_46dup c.272_276dup (p.Leu93CysfsTer18) | gnomAD v4 |
3 | g.148996876_148996890del | CA2668125298 | GYG1 | c.453_467del (p.His151_Glu155del) c.315_329del (p.His105_Glu109del) n.46_60del c.276_290del (p.His92_Glu96del) | gnomAD v4 |
3 | g.148996875A= | CA1410025822 | GYG1 | c.452A= (p.His151=) c.314A= (p.His105=) n.45A= c.275A= (p.His92=) | |
3 | g.148996875A>C | CA354903375 | GYG1 | c.452A>C (p.His151Pro) c.314A>C (p.His105Pro) n.45A>C c.275A>C (p.His92Pro) | |
3 | g.148996875A>G | CA2658560 | GYG1 | c.452A>G (p.His151Arg) c.314A>G (p.His105Arg) n.45A>G c.275A>G (p.His92Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.148996875A>T | CA2658559 | GYG1 | c.452A>T (p.His151Leu) c.314A>T (p.His105Leu) n.45A>T c.275A>T (p.His92Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.148996876T>A | CA354903376 | GYG1 | c.453T>A (p.His151Gln) c.315T>A (p.His105Gln) n.46T>A c.276T>A (p.His92Gln) | |
3 | g.148996876T>C | CA436192376 | GYG1 | c.453T>C (p.His151=) c.315T>C (p.His105=) n.46T>C c.276T>C (p.His92=) | |
3 | g.148996876T>G | CA354903377 | GYG1 | c.453T>G (p.His151Gln) c.315T>G (p.His105Gln) n.46T>G c.276T>G (p.His92Gln) | |
3 | g.148996877C>A | CA354903378 | GYG1 | c.454C>A (p.Leu152Ile) c.316C>A (p.Leu106Ile) n.47C>A c.277C>A (p.Leu93Ile) | |
3 | g.148996877C>G | CA354903379 | GYG1 | c.454C>G (p.Leu152Val) c.316C>G (p.Leu106Val) n.47C>G c.277C>G (p.Leu93Val) | |
3 | g.148996877C>T | CA354903380 | GYG1 | c.454C>T (p.Leu152Phe) c.316C>T (p.Leu106Phe) n.47C>T c.277C>T (p.Leu93Phe) | |
3 | g.148996878T>A | CA354903381 | GYG1 | c.455T>A (p.Leu152His) c.317T>A (p.Leu106His) n.48T>A c.278T>A (p.Leu93His) | |
3 | g.148996878T>C | CA354903382 | GYG1 | c.455T>C (p.Leu152Pro) c.317T>C (p.Leu106Pro) n.48T>C c.278T>C (p.Leu93Pro) | |
3 | g.148996878T>G | CA354903383 | GYG1 | c.455T>G (p.Leu152Arg) c.317T>G (p.Leu106Arg) n.48T>G c.278T>G (p.Leu93Arg) | |
3 | g.148996879T>A | CA436192378 | GYG1 | c.456T>A (p.Leu152=) c.318T>A (p.Leu106=) n.49T>A c.279T>A (p.Leu93=) | |
3 | g.148996879T>C | CA436192381 | GYG1 | c.456T>C (p.Leu152=) c.318T>C (p.Leu106=) n.49T>C c.279T>C (p.Leu93=) | |
3 | g.148996879T>G | CA436192383 | GYG1 | c.456T>G (p.Leu152=) c.318T>G (p.Leu106=) n.49T>G c.279T>G (p.Leu93=) | gnomAD v4 |
3 | g.148996880G>A | CA354903384 | GYG1 | c.457G>A (p.Ala153Thr) c.319G>A (p.Ala107Thr) n.50G>A c.280G>A (p.Ala94Thr) | |
3 | g.148996880G>C | CA85493936 | GYG1 | c.457G>C (p.Ala153Pro) c.319G>C (p.Ala107Pro) n.50G>C c.280G>C (p.Ala94Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.148996880G= | CA1410025823 | GYG1 | c.457G= (p.Ala153=) c.319G= (p.Ala107=) n.50G= c.280G= (p.Ala94=) | |
3 | g.148996880G>T | CA354903385 | GYG1 | c.457G>T (p.Ala153Ser) c.319G>T (p.Ala107Ser) n.50G>T c.280G>T (p.Ala94Ser) | |
3 | g.148996880_148996884del | CA2668125299 | GYG1 | c.457_461del (p.Ala153Ter) c.319_323del (p.Ala107Ter) n.50_54del c.280_284del (p.Ala94Ter) | gnomAD v4 |
3 | g.148996881C>A | CA354903388 | GYG1 | c.458C>A (p.Ala153Asp) c.320C>A (p.Ala107Asp) n.51C>A c.281C>A (p.Ala94Asp) | |
3 | g.148996881C>G | CA354903386 | GYG1 | c.458C>G (p.Ala153Gly) c.320C>G (p.Ala107Gly) n.51C>G c.281C>G (p.Ala94Gly) | |
3 | g.148996881C>T | CA354903387 | GYG1 | c.458C>T (p.Ala153Val) c.320C>T (p.Ala107Val) n.51C>T c.281C>T (p.Ala94Val) | gnomAD v4 |
3 | g.148996882T>A | CA436192389 | GYG1 | c.459T>A (p.Ala153=) c.321T>A (p.Ala107=) n.52T>A c.282T>A (p.Ala94=) | |
3 | g.148996882T>C | CA436192391 | GYG1 | c.459T>C (p.Ala153=) c.321T>C (p.Ala107=) n.52T>C c.282T>C (p.Ala94=) | |
3 | g.148996882T>G | CA436192390 | GYG1 | c.459T>G (p.Ala153=) c.321T>G (p.Ala107=) n.52T>G c.282T>G (p.Ala94=) | |
3 | g.148996883T>A | CA354903389 | GYG1 | c.460T>A (p.Ser154Thr) c.322T>A (p.Ser108Thr) n.53T>A c.283T>A (p.Ser95Thr) | |
3 | g.148996883T>C | CA85493958 | GYG1 | c.460T>C (p.Ser154Pro) c.322T>C (p.Ser108Pro) n.53T>C c.283T>C (p.Ser95Pro) | dbSNP gnomAD v4 |
3 | g.148996883T>G | CA354903390 | GYG1 | c.460T>G (p.Ser154Ala) c.322T>G (p.Ser108Ala) n.53T>G c.283T>G (p.Ser95Ala) | gnomAD v4 |
3 | g.148996883T= | CA1410025824 | GYG1 | c.460T= (p.Ser154=) c.322T= (p.Ser108=) n.53T= c.283T= (p.Ser95=) | |
3 | g.148996884C>A | CA354903391 | GYG1 | c.461C>A (p.Ser154Tyr) c.323C>A (p.Ser108Tyr) n.54C>A c.284C>A (p.Ser95Tyr) | |
3 | g.148996884C>G | CA354903392 | GYG1 | c.461C>G (p.Ser154Cys) c.323C>G (p.Ser108Cys) n.54C>G c.284C>G (p.Ser95Cys) | |
3 | g.148996884C>T | CA354903393 | GYG1 | c.461C>T (p.Ser154Phe) c.323C>T (p.Ser108Phe) n.54C>T c.284C>T (p.Ser95Phe) | |
3 | g.148996885T>A | CA436192393 | GYG1 | c.462T>A (p.Ser154=) c.324T>A (p.Ser108=) n.55T>A c.285T>A (p.Ser95=) | |
3 | g.148996885T>C | CA436192394 | GYG1 | c.462T>C (p.Ser154=) c.324T>C (p.Ser108=) n.55T>C c.285T>C (p.Ser95=) | |
3 | g.148996885T>G | CA436192395 | GYG1 | c.462T>G (p.Ser154=) c.324T>G (p.Ser108=) n.55T>G c.285T>G (p.Ser95=) | |
3 | g.148996886G>A | CA354903394 | GYG1 | c.463G>A (p.Glu155Lys) c.325G>A (p.Glu109Lys) n.56G>A c.286G>A (p.Glu96Lys) | |
3 | g.148996886G>C | CA354903395 | GYG1 | c.463G>C (p.Glu155Gln) c.325G>C (p.Glu109Gln) n.56G>C c.286G>C (p.Glu96Gln) | gnomAD v4 |
3 | g.148996886G>T | CA354903396 | GYG1 | c.463G>T (p.Glu155Ter) c.325G>T (p.Glu109Ter) n.56G>T c.286G>T (p.Glu96Ter) | |
3 | g.148996887A>C | CA354903397 | GYG1 | c.464A>C (p.Glu155Ala) c.326A>C (p.Glu109Ala) n.57A>C c.287A>C (p.Glu96Ala) | |
3 | g.148996887A>G | CA354903398 | GYG1 | c.464A>G (p.Glu155Gly) c.326A>G (p.Glu109Gly) n.57A>G c.287A>G (p.Glu96Gly) | |
3 | g.148996887A>T | CA354903399 | GYG1 | c.464A>T (p.Glu155Val) c.326A>T (p.Glu109Val) n.57A>T c.287A>T (p.Glu96Val) | |
3 | g.148996888G>A | CA436192397 | GYG1 | c.465G>A (p.Glu155=) c.327G>A (p.Glu109=) n.58G>A c.288G>A (p.Glu96=) | |
3 | g.148996888G>C | CA354903400 | GYG1 | c.465G>C (p.Glu155Asp) c.327G>C (p.Glu109Asp) n.58G>C c.288G>C (p.Glu96Asp) | |
3 | g.148996888G>T | CA354903401 | GYG1 | c.465G>T (p.Glu155Asp) c.327G>T (p.Glu109Asp) n.58G>T c.288G>T (p.Glu96Asp) | |
3 | g.148996889C>A | CA354903402 | GYG1 | c.466C>A (p.Gln156Lys) c.328C>A (p.Gln110Lys) n.59C>A c.289C>A (p.Gln97Lys) |