Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50944144_50944151dup | CA613884286 | PYGL | c.243+16_243+23dup (n.243+16_243+23dup) n.310+16_310+23dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944150C>A | CA2624829289 | PYGL | c.243+11G>T (n.243+11G>T) n.310+11G>T | gnomAD v4 |
14 | g.50944150C= | CA2136438404 | PYGL | c.243+11G= (n.243+11G=) n.310+11G= | |
14 | g.50944150C>T | CA7183884 | PYGL | c.243+11G>A (n.243+11G>A) n.310+11G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944154dup | CA2624829288 | PYGL | c.243+11dup (n.243+11dup) n.310+11dup | gnomAD v4 |
14 | g.50944154del | CA2575525623 | PYGL | c.243+11del (n.243+11del) n.310+11del | gnomAD v4 |
14 | g.50944151C= | CA2136438405 | PYGL | c.243+10G= (n.243+10G=) n.310+10G= | |
14 | g.50944151C>G | CA2624829291 | PYGL | c.243+10G>C (n.243+10G>C) n.310+10G>C | gnomAD v4 |
14 | g.50944151C>T | CA2136438406 | PYGL | c.243+10G>A (n.243+10G>A) n.310+10G>A | dbSNP gnomAD v4 |
14 | g.50944152C= | CA2136438407 | PYGL | c.243+9G= (n.243+9G=) n.310+9G= | |
14 | g.50944152C>T | CA613884292 | PYGL | c.243+9G>A (n.243+9G>A) n.310+9G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944153C>A | CA2624829298 | PYGL | c.243+8G>T (n.243+8G>T) n.310+8G>T | gnomAD v4 |
14 | g.50944153C= | CA2136438409 | PYGL | c.243+8G= (n.243+8G=) n.310+8G= | |
14 | g.50944153C>G | CA2136438408 | PYGL | c.243+8G>C (n.243+8G>C) n.310+8G>C | dbSNP gnomAD v4 |
14 | g.50944153C>T | CA2575525624 | PYGL | c.243+8G>A (n.243+8G>A) n.310+8G>A | gnomAD v4 |
14 | g.50944154C= | CA2136438410 | PYGL | c.243+7G= (n.243+7G=) n.310+7G= | |
14 | g.50944154C>G | CA7183885 | PYGL | c.243+7G>C (n.243+7G>C) n.310+7G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50944154C>T | CA963078710 | PYGL | c.243+7G>A (n.243+7G>A) n.310+7G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50944155G= | CA2136438411 | PYGL | c.243+6C= (n.243+6C=) n.310+6C= | |
14 | g.50944155G>T | CA7183886 | PYGL | c.243+6C>A (n.243+6C>A) n.310+6C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50944156G>A | CA706632266 | PYGL | c.243+5C>T (n.243+5C>T) n.310+5C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50944156G= | CA2136438412 | PYGL | c.243+5C= (n.243+5C=) n.310+5C= | |
14 | g.50944156G>T | CA2136438413 | PYGL | c.243+5C>A (n.243+5C>A) n.310+5C>A | dbSNP |
14 | g.50944157T>A | CA963078720 | PYGL | c.243+4A>T (n.243+4A>T) n.310+4A>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50944157T= | CA2136438414 | PYGL | c.243+4A= (n.243+4A=) n.310+4A= | |
14 | g.50944159A>C | CA389699044 | PYGL | c.243+2T>G (n.243+2T>G) n.310+2T>G | |
14 | g.50944159A>G | CA389699046 | PYGL | c.243+2T>C (n.243+2T>C) n.310+2T>C | |
14 | g.50944159A>T | CA389699049 | PYGL | c.243+2T>A (n.243+2T>A) n.310+2T>A | |
14 | g.50944160C>A | CA389699052 | PYGL | c.243+1G>T (n.243+1G>T) n.310+1G>T | gnomAD v4 |
14 | g.50944160C>G | CA389699055 | PYGL | c.243+1G>C (n.243+1G>C) n.310+1G>C | |
14 | g.50944160C>T | CA389699057 | PYGL | c.243+1G>A (n.243+1G>A) n.310+1G>A | gnomAD v4 |
14 | g.50944161C>A | CA389699061 | PYGL | c.243G>T (p.Lys81Asn) n.310G>T | gnomAD v4 |
14 | g.50944161C= | CA2136438415 | PYGL | c.243G= (p.Lys81=) n.310G= | |
14 | g.50944161C>G | CA389699063 | PYGL | c.243G>C (p.Lys81Asn) n.310G>C | |
14 | g.50944161C>T | CA486653682 | PYGL | c.243G>A (p.Lys81=) n.310G>A | dbSNP gnomAD v2 |
14 | g.50944162T>A | CA389699064 | PYGL | c.242A>T (p.Lys81Met) n.309A>T | |
14 | g.50944162T>C | CA389699065 | PYGL | c.242A>G (p.Lys81Arg) n.309A>G | dbSNP gnomAD v4 |
14 | g.50944162T>G | CA389699068 | PYGL | c.242A>C (p.Lys81Thr) n.309A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944162T= | CA2136438416 | PYGL | c.242A= (p.Lys81=) n.309A= | |
14 | g.50944163T>A | CA389699075 | PYGL | c.241A>T (p.Lys81Ter) n.308A>T | |
14 | g.50944163T>C | CA389699077 | PYGL | c.241A>G (p.Lys81Glu) n.308A>G | gnomAD v4 |
14 | g.50944163T>G | CA389699074 | PYGL | c.241A>C (p.Lys81Gln) n.308A>C | |
14 | g.50944164G>A | CA486653683 | PYGL | c.240C>T (p.Pro80=) n.307C>T | |
14 | g.50944164G>C | CA486653684 | PYGL | c.240C>G (p.Pro80=) n.307C>G | |
14 | g.50944164G>T | CA486653685 | PYGL | c.240C>A (p.Pro80=) n.307C>A | gnomAD v4 |
14 | g.50944167dup | CA2624829315 | PYGL | c.240dup (p.Lys81GlnfsTer30) n.307dup c.240dup (p.Lys81GlnfsTer13) | gnomAD v4 |
14 | g.50944165G>A | CA389699079 | PYGL | c.239C>T (p.Pro80Leu) n.306C>T | |
14 | g.50944165G>C | CA389699084 | PYGL | c.239C>G (p.Pro80Arg) n.306C>G | |
14 | g.50944165G>T | CA389699085 | PYGL | c.239C>A (p.Pro80His) n.306C>A | gnomAD v4 |
14 | g.50944166G>A | CA389699088 | PYGL | c.238C>T (p.Pro80Ser) n.305C>T | |
14 | g.50944166G>C | CA389699090 | PYGL | c.238C>G (p.Pro80Ala) n.305C>G | |
14 | g.50944166G>T | CA389699091 | PYGL | c.238C>A (p.Pro80Thr) n.305C>A | gnomAD v4 |
14 | g.50944167G>A | CA486653686 | PYGL | c.237C>T (p.Cys79=) n.304C>T | dbSNP gnomAD v4 |
14 | g.50944167G>C | CA389699094 | PYGL | c.237C>G (p.Cys79Trp) n.304C>G | |
14 | g.50944167G>T | CA389699095 | PYGL | c.237C>A (p.Cys79Ter) n.304C>A | |
14 | g.50944168C>A | CA389699096 | PYGL | c.236G>T (p.Cys79Phe) n.303G>T | |
14 | g.50944168C= | CA2136438417 | PYGL | c.236G= (p.Cys79=) n.303G= | |
14 | g.50944168C>G | CA389699097 | PYGL | c.236G>C (p.Cys79Ser) n.303G>C | |
14 | g.50944168C>T | CA7183887 | PYGL | c.236G>A (p.Cys79Tyr) n.303G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50944169A= | CA2136438418 | PYGL | c.235T= (p.Cys79=) n.302T= | |
14 | g.50944169A>C | CA389699098 | PYGL | c.235T>G (p.Cys79Gly) n.302T>G | dbSNP gnomAD v4 |
14 | g.50944169A>G | CA389699099 | PYGL | c.235T>C (p.Cys79Arg) n.302T>C | dbSNP |
14 | g.50944169A>T | CA389699100 | PYGL | c.235T>A (p.Cys79Ser) n.302T>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944170C>A | CA389699103 | PYGL | c.234G>T (p.Lys78Asn) n.301G>T | |
14 | g.50944170C>G | CA389699102 | PYGL | c.234G>C (p.Lys78Asn) n.301G>C | |
14 | g.50944170C>T | CA486653687 | PYGL | c.234G>A (p.Lys78=) n.301G>A | |
14 | g.50944171T>A | CA389699105 | PYGL | c.233A>T (p.Lys78Met) n.300A>T | |
14 | g.50944171T>C | CA389699108 | PYGL | c.233A>G (p.Lys78Arg) n.300A>G | |
14 | g.50944171T>G | CA389699106 | PYGL | c.233A>C (p.Lys78Thr) n.300A>C | |
14 | g.50944172T>A | CA389699111 | PYGL | c.232A>T (p.Lys78Ter) n.299A>T | |
14 | g.50944172T>C | CA389699114 | PYGL | c.232A>G (p.Lys78Glu) n.299A>G | |
14 | g.50944172T>G | CA389699112 | PYGL | c.232A>C (p.Lys78Gln) n.299A>C | |
14 | g.50944172_50944175delinsTGTC | CA2136438419 | PYGL | c.229_232delinsGACA (p.Asp77=) n.296_299delinsGACA | |
14 | g.50944173G>A | CA486653688 | PYGL | c.231C>T (p.Asp77=) n.298C>T | dbSNP gnomAD v2 |
14 | g.50944173G>C | CA389699116 | PYGL | c.231C>G (p.Asp77Glu) n.298C>G | |
14 | g.50944173G= | CA2136438420 | PYGL | c.231C= (p.Asp77=) n.298C= | |
14 | g.50944173G>T | CA389699118 | PYGL | c.231C>A (p.Asp77Glu) n.298C>A | gnomAD v4 |
14 | g.50944175_50944177del | CA614275203 | PYGL | c.229_231del (p.Asp77del) n.296_298del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944174T>A | CA389699119 | PYGL | c.230A>T (p.Asp77Val) n.297A>T | |
14 | g.50944174T>C | CA389699121 | PYGL | c.230A>G (p.Asp77Gly) n.297A>G | dbSNP gnomAD v4 |
14 | g.50944174T>G | CA389699123 | PYGL | c.230A>C (p.Asp77Ala) n.297A>C | |
14 | g.50944174T= | CA2136438421 | PYGL | c.230A= (p.Asp77=) n.297A= | |
14 | g.50944175C>A | CA389699125 | PYGL | c.229G>T (p.Asp77Tyr) n.296G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944175C= | CA2136438422 | PYGL | c.229G= (p.Asp77=) n.296G= | |
14 | g.50944175C>G | CA389699127 | PYGL | c.229G>C (p.Asp77His) n.296G>C | gnomAD v4 |
14 | g.50944175C>T | CA389699129 | PYGL | c.229G>A (p.Asp77Asn) n.296G>A | gnomAD v4 |
14 | g.50944176G>A | CA486653689 | PYGL | c.228C>T (p.Tyr76=) n.295C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50944176G>C | CA389699130 | PYGL | c.228C>G (p.Tyr76Ter) n.295C>G | |
14 | g.50944176G= | CA2136438423 | PYGL | c.228C= (p.Tyr76=) n.295C= | |
14 | g.50944176G>T | CA389699131 | PYGL | c.228C>A (p.Tyr76Ter) n.295C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944177T>A | CA389699132 | PYGL | c.227A>T (p.Tyr76Phe) n.294A>T | dbSNP |
14 | g.50944177T>C | CA389699134 | PYGL | c.227A>G (p.Tyr76Cys) n.294A>G | gnomAD v4 |
14 | g.50944177T>G | CA389699136 | PYGL | c.227A>C (p.Tyr76Ser) n.294A>C | |
14 | g.50944177T= | CA2136438424 | PYGL | c.227A= (p.Tyr76=) n.294A= | |
14 | g.50944178A>C | CA389699142 | PYGL | c.226T>G (p.Tyr76Asp) n.293T>G | |
14 | g.50944178A>G | CA389699140 | PYGL | c.226T>C (p.Tyr76His) n.293T>C | gnomAD v4 |
14 | g.50944178A>T | CA389699139 | PYGL | c.226T>A (p.Tyr76Asn) n.293T>A | |
14 | g.50944179G>A | CA486653690 | PYGL | c.225C>T (p.Tyr75=) n.292C>T | |
14 | g.50944179G>C | CA389699144 | PYGL | c.225C>G (p.Tyr75Ter) n.292C>G | |
14 | g.50944179G>T | CA389699145 | PYGL | c.225C>A (p.Tyr75Ter) n.292C>A | |
14 | g.50944180T>A | CA389699148 | PYGL | c.224A>T (p.Tyr75Phe) n.291A>T | |
14 | g.50944180T>C | CA7183888 | PYGL | c.224A>G (p.Tyr75Cys) n.291A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944180T>G | CA389699151 | PYGL | c.224A>C (p.Tyr75Ser) n.291A>C | |
14 | g.50944180T= | CA2136438425 | PYGL | c.224A= (p.Tyr75=) n.291A= | |
14 | g.50944181A>C | CA389699152 | PYGL | c.223T>G (p.Tyr75Asp) n.290T>G | |
14 | g.50944181A>G | CA389699154 | PYGL | c.223T>C (p.Tyr75His) n.290T>C | |
14 | g.50944181A>T | CA389699155 | PYGL | c.223T>A (p.Tyr75Asn) n.290T>A | |
14 | g.50944182G>A | CA486653691 | PYGL | c.222C>T (p.His74=) n.289C>T | dbSNP gnomAD v4 |
14 | g.50944182G>C | CA389699156 | PYGL | c.222C>G (p.His74Gln) n.289C>G | |
14 | g.50944182G= | CA2136438426 | PYGL | c.222C= (p.His74=) n.289C= | |
14 | g.50944182G>T | CA389699157 | PYGL | c.222C>A (p.His74Gln) n.289C>A | |
14 | g.50944183T>A | CA389699158 | PYGL | c.221A>T (p.His74Leu) n.288A>T | |
14 | g.50944183T>C | CA389699159 | PYGL | c.221A>G (p.His74Arg) n.288A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944183T>G | CA389699162 | PYGL | c.221A>C (p.His74Pro) n.288A>C | |
14 | g.50944183T= | CA2136438427 | PYGL | c.221A= (p.His74=) n.288A= | |
14 | g.50944184G>A | CA389699166 | PYGL | c.220C>T (p.His74Tyr) n.287C>T | |
14 | g.50944184G>C | CA389699167 | PYGL | c.220C>G (p.His74Asp) n.287C>G | |
14 | g.50944184G>T | CA389699164 | PYGL | c.220C>A (p.His74Asn) n.287C>A | gnomAD v4 |
14 | g.50944185C>A | CA389699168 | PYGL | c.219G>T (p.Gln73His) n.286G>T | |
14 | g.50944185C= | CA2136438428 | PYGL | c.219G= (p.Gln73=) n.286G= | |
14 | g.50944185C>G | CA389699169 | PYGL | c.219G>C (p.Gln73His) n.286G>C | |
14 | g.50944185C>T | CA260846415 | PYGL | c.219G>A (p.Gln73=) n.286G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.50944186T>A | CA389699172 | PYGL | c.218A>T (p.Gln73Leu) n.285A>T | |
14 | g.50944186T>C | CA389699173 | PYGL | c.218A>G (p.Gln73Arg) n.285A>G | |
14 | g.50944186T>G | CA389699176 | PYGL | c.218A>C (p.Gln73Pro) n.285A>C | |
14 | g.50944187G>A | CA260846422 | PYGL | c.217C>T (p.Gln73Ter) n.284C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50944187G>C | CA389699180 | PYGL | c.217C>G (p.Gln73Glu) n.284C>G | |
14 | g.50944187G= | CA2136438429 | PYGL | c.217C= (p.Gln73=) n.284C= | |
14 | g.50944187G>T | CA389699182 | PYGL | c.217C>A (p.Gln73Lys) n.284C>A | |
14 | g.50944188C>A | CA389699184 | PYGL | c.216G>T (p.Gln72His) n.283G>T | gnomAD v4 |
14 | g.50944188C>G | CA389699186 | PYGL | c.216G>C (p.Gln72His) n.283G>C | |
14 | g.50944188C>T | CA486653692 | PYGL | c.216G>A (p.Gln72=) n.283G>A | |
14 | g.50944189T>A | CA389699191 | PYGL | c.215A>T (p.Gln72Leu) n.282A>T | gnomAD v4 |
14 | g.50944189T>C | CA389699190 | PYGL | c.215A>G (p.Gln72Arg) n.282A>G | |
14 | g.50944189T>G | CA389699189 | PYGL | c.215A>C (p.Gln72Pro) n.282A>C | |
14 | g.50944190G>A | CA389699192 | PYGL | c.214C>T (p.Gln72Ter) n.281C>T | |
14 | g.50944190G>C | CA389699193 | PYGL | c.214C>G (p.Gln72Glu) n.281C>G | |
14 | g.50944190G>T | CA389699195 | PYGL | c.214C>A (p.Gln72Lys) n.281C>A | |
14 | g.50944190dup | CA2624829370 | PYGL | c.214dup (p.Gln72ProfsTer?) n.281dup c.214dup (p.Gln72ProfsTer22) | gnomAD v4 |
14 | g.50944191C>A | CA486653693 | PYGL | c.213G>T (p.Thr71=) n.280G>T | |
14 | g.50944191C= | CA2136438430 | PYGL | c.213G= (p.Thr71=) n.280G= | |
14 | g.50944191C>G | CA486653695 | PYGL | c.213G>C (p.Thr71=) n.280G>C | |
14 | g.50944191C>T | CA486653694 | PYGL | c.213G>A (p.Thr71=) n.280G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944192G>A | CA389699198 | PYGL | c.212C>T (p.Thr71Met) n.279C>T | dbSNP |
14 | g.50944192G>C | CA389699202 | PYGL | c.212C>G (p.Thr71Arg) n.279C>G | |
14 | g.50944192G= | CA2136438431 | PYGL | c.212C= (p.Thr71=) n.279C= | |
14 | g.50944192G>T | CA389699203 | PYGL | c.212C>A (p.Thr71Lys) n.279C>A | dbSNP gnomAD v4 |
14 | g.50944193T>A | CA389699204 | PYGL | c.211A>T (p.Thr71Ser) n.278A>T | |
14 | g.50944193T>C | CA389699205 | PYGL | c.211A>G (p.Thr71Ala) n.278A>G | |
14 | g.50944193T>G | CA389699206 | PYGL | c.211A>C (p.Thr71Pro) n.278A>C | ClinVar dbSNP gnomAD v4 |
14 | g.50944193T= | CA2136438432 | PYGL | c.211A= (p.Thr71=) n.278A= | |
14 | g.50944194G>A | CA486653696 | PYGL | c.210C>T (p.Arg70=) n.277C>T | |
14 | g.50944194G>C | CA486653697 | PYGL | c.210C>G (p.Arg70=) n.277C>G | |
14 | g.50944194G>T | CA486653698 | PYGL | c.210C>A (p.Arg70=) n.277C>A | |
14 | g.50944195C>A | CA389699208 | PYGL | c.209G>T (p.Arg70Leu) n.276G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944195C= | CA2136438433 | PYGL | c.209G= (p.Arg70=) n.276G= | |
14 | g.50944195C>G | CA389699209 | PYGL | c.209G>C (p.Arg70Pro) n.276G>C | |
14 | g.50944195C>T | CA389699210 | PYGL | c.209G>A (p.Arg70His) n.276G>A | gnomAD v4 |
14 | g.50944196G>A | CA389699215 | PYGL | c.208C>T (p.Arg70Cys) n.275C>T | dbSNP |
14 | g.50944196G>C | CA389699213 | PYGL | c.208C>G (p.Arg70Gly) n.275C>G | |
14 | g.50944196G= | CA2136438434 | PYGL | c.208C= (p.Arg70=) n.275C= | |
14 | g.50944196G>T | CA389699212 | PYGL | c.208C>A (p.Arg70Ser) n.275C>A | ClinVar dbSNP |
14 | g.50944197G>A | CA7183889 | PYGL | c.207C>T (p.Ile69=) n.274C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944197G>C | CA389699217 | PYGL | c.207C>G (p.Ile69Met) n.274C>G | |
14 | g.50944197G= | CA2136438435 | PYGL | c.207C= (p.Ile69=) n.274C= | |
14 | g.50944197G>T | CA486653699 | PYGL | c.207C>A (p.Ile69=) n.274C>A | gnomAD v4 COSMIC |
14 | g.50944198A>C | CA389699225 | PYGL | c.206T>G (p.Ile69Ser) n.273T>G | |
14 | g.50944198A>G | CA389699221 | PYGL | c.206T>C (p.Ile69Thr) n.273T>C | |
14 | g.50944198A>T | CA389699223 | PYGL | c.206T>A (p.Ile69Asn) n.273T>A | |
14 | g.50944199T>A | CA389699228 | PYGL | c.205A>T (p.Ile69Phe) n.272A>T | COSMIC |
14 | g.50944199T>C | CA389699230 | PYGL | c.205A>G (p.Ile69Val) n.272A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944199T>G | CA389699233 | PYGL | c.205A>C (p.Ile69Leu) n.272A>C | |
14 | g.50944199T= | CA2136438436 | PYGL | c.205A= (p.Ile69=) n.272A= | |
14 | g.50944200C>A | CA389699236 | PYGL | c.204G>T (p.Trp68Cys) n.271G>T | |
14 | g.50944200C>G | CA389699238 | PYGL | c.204G>C (p.Trp68Cys) n.271G>C | |
14 | g.50944200C>T | CA389699239 | PYGL | c.204G>A (p.Trp68Ter) n.271G>A | |
14 | g.50944201C>A | CA389699242 | PYGL | c.203G>T (p.Trp68Leu) n.270G>T | |
14 | g.50944201C>G | CA389699243 | PYGL | c.203G>C (p.Trp68Ser) n.270G>C | gnomAD v4 |
14 | g.50944201C>T | CA389699245 | PYGL | c.203G>A (p.Trp68Ter) n.270G>A | |
14 | g.50944202A>C | CA389699251 | PYGL | c.202T>G (p.Trp68Gly) n.269T>G | |
14 | g.50944202A>G | CA389699249 | PYGL | c.202T>C (p.Trp68Arg) n.269T>C | gnomAD v4 |
14 | g.50944202A>T | CA389699247 | PYGL | c.202T>A (p.Trp68Arg) n.269T>A | |
14 | g.50944203G>A | CA486653700 | PYGL | c.201C>T (p.Arg67=) n.268C>T | |
14 | g.50944203G>C | CA486653701 | PYGL | c.201C>G (p.Arg67=) n.268C>G | |
14 | g.50944203G>T | CA486653702 | PYGL | c.201C>A (p.Arg67=) n.268C>A | gnomAD v4 |
14 | g.50944204C>A | CA389699253 | PYGL | c.200G>T (p.Arg67Leu) n.267G>T | |
14 | g.50944204C= | CA2136438437 | PYGL | c.200G= (p.Arg67=) n.267G= | |
14 | g.50944204C>G | CA389699255 | PYGL | c.200G>C (p.Arg67Pro) n.267G>C | |
14 | g.50944204C>T | CA7183890 | PYGL | c.200G>A (p.Arg67His) n.267G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50944205G>A | CA389699258 | PYGL | c.199C>T (p.Arg67Cys) n.266C>T | COSMIC |
14 | g.50944205G>C | CA389699260 | PYGL | c.199C>G (p.Arg67Gly) n.266C>G | |
14 | g.50944205G>T | CA389699261 | PYGL | c.199C>A (p.Arg67Ser) n.266C>A | gnomAD v4 |
14 | g.50944206C>A | CA486653703 | PYGL | c.198G>T (p.Gly66=) n.265G>T | |
14 | g.50944206C>G | CA486653704 | PYGL | c.198G>C (p.Gly66=) n.265G>C | |
14 | g.50944206C>T | CA486653705 | PYGL | c.198G>A (p.Gly66=) n.265G>A | |
14 | g.50944209del | CA2580088241 | PYGL | c.198del (p.Arg67AlafsTer?) n.265del c.198del (p.Arg67AlafsTer20) | ClinVar gnomAD v4 |
14 | g.50944206_50944225delinsCCCCACCAGGTGGTCGCGCA | CA2136438438 | PYGL | c.179_198delinsTGCGCGACCACCTGGTGGGG (p.Val60=) n.246_265delinsTGCGCGACCACCTGGTGGGG | |
14 | g.50944207C>A | CA389699263 | PYGL | c.197G>T (p.Gly66Val) n.264G>T | |
14 | g.50944207C= | CA2136438439 | PYGL | c.197G= (p.Gly66=) n.264G= | |
14 | g.50944207C>G | CA389699265 | PYGL | c.197G>C (p.Gly66Ala) n.264G>C | |
14 | g.50944207C>T | CA389699268 | PYGL | c.197G>A (p.Gly66Glu) n.264G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944209_50944227del | CA614275204 | PYGL | c.179_197del (p.Val60GlyfsTer?) n.246_264del c.179_197del (p.Val60GlyfsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944208C>A | CA389699270 | PYGL | c.196G>T (p.Gly66Trp) n.263G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944208C= | CA2136438440 | PYGL | c.196G= (p.Gly66=) n.263G= | |
14 | g.50944208C>G | CA389699271 | PYGL | c.196G>C (p.Gly66Arg) n.263G>C | |
14 | g.50944208C>T | CA7183891 | PYGL | c.196G>A (p.Gly66Arg) n.263G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50944209C>A | CA486653706 | PYGL | c.195G>T (p.Val65=) n.262G>T | |
14 | g.50944209C>G | CA486653707 | PYGL | c.195G>C (p.Val65=) n.262G>C | |
14 | g.50944209C>T | CA486653708 | PYGL | c.195G>A (p.Val65=) n.262G>A | |
14 | g.50944210A>C | CA389699276 | PYGL | c.194T>G (p.Val65Gly) n.261T>G | |
14 | g.50944210A>G | CA389699277 | PYGL | c.194T>C (p.Val65Ala) n.261T>C | |
14 | g.50944210A>T | CA389699274 | PYGL | c.194T>A (p.Val65Glu) n.261T>A | |
14 | g.50944211C>A | CA389699278 | PYGL | c.193G>T (p.Val65Leu) n.260G>T | |
14 | g.50944211C>G | CA389699279 | PYGL | c.193G>C (p.Val65Leu) n.260G>C | |
14 | g.50944211C>T | CA389699280 | PYGL | c.193G>A (p.Val65Met) n.260G>A | |
14 | g.50944212C>A | CA486653709 | PYGL | c.192G>T (p.Leu64=) n.259G>T | |
14 | g.50944212C>G | CA486653710 | PYGL | c.192G>C (p.Leu64=) n.259G>C | |
14 | g.50944212C>T | CA486653711 | PYGL | c.192G>A (p.Leu64=) n.259G>A | gnomAD v4 |
14 | g.50944213_50944239del | CA2624829433 | PYGL | c.166_192del (p.Leu56_Leu64del) n.233_259del | gnomAD v4 |
14 | g.50944213A>C | CA389699284 | PYGL | c.191T>G (p.Leu64Arg) n.258T>G | |
14 | g.50944213A>G | CA389699285 | PYGL | c.191T>C (p.Leu64Pro) n.258T>C | |
14 | g.50944213A>T | CA389699287 | PYGL | c.191T>A (p.Leu64Gln) n.258T>A | |
14 | g.50944214G>A | CA486653712 | PYGL | c.190C>T (p.Leu64=) n.257C>T | |
14 | g.50944214G>C | CA389699290 | PYGL | c.190C>G (p.Leu64Val) n.257C>G | |
14 | g.50944214G>T | CA389699289 | PYGL | c.190C>A (p.Leu64Met) n.257C>A | gnomAD v4 |
14 | g.50944215G>A | CA7183892 | PYGL | c.189C>T (p.His63=) n.256C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944215G>C | CA389699293 | PYGL | c.189C>G (p.His63Gln) n.256C>G | |
14 | g.50944215G= | CA2136438441 | PYGL | c.189C= (p.His63=) n.256C= | |
14 | g.50944215G>T | CA389699295 | PYGL | c.189C>A (p.His63Gln) n.256C>A | dbSNP gnomAD v4 |
14 | g.50944216T>A | CA389699296 | PYGL | c.188A>T (p.His63Leu) n.255A>T | gnomAD v4 |
14 | g.50944216T>C | CA7183893 | PYGL | c.188A>G (p.His63Arg) n.255A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.50944216T>G | CA389699299 | PYGL | c.188A>C (p.His63Pro) n.255A>C | |
14 | g.50944216T= | CA2136438443 | PYGL | c.188A= (p.His63=) n.255A= | |
14 | g.50944216_50944217insCT | CA1139663487 | PYGL | c.188_189insGA (p.His63GlnfsTer?) n.255_256insGA c.188_189insGA (p.His63GlnfsTer25) | ClinVar dbSNP |
14 | g.50944216_50944217delinsTG | CA2136438442 | PYGL | c.187_188delinsCA (p.His63=) n.254_255delinsCA | |
14 | g.50944217G>A | CA389699301 | PYGL | c.187C>T (p.His63Tyr) n.254C>T | |
14 | g.50944217G>C | CA389699305 | PYGL | c.187C>G (p.His63Asp) n.254C>G | |
14 | g.50944217G>T | CA389699303 | PYGL | c.187C>A (p.His63Asn) n.254C>A | |
14 | g.50944218del | CA963078753 | PYGL | c.187del (p.His63ThrfsTer?) n.254del c.187del (p.His63ThrfsTer24) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50944218G>A | CA486653713 | PYGL | c.186C>T (p.Asp62=) n.253C>T | gnomAD v4 |
14 | g.50944218G>C | CA389699307 | PYGL | c.186C>G (p.Asp62Glu) n.253C>G | |
14 | g.50944218G>T | CA389699308 | PYGL | c.186C>A (p.Asp62Glu) n.253C>A | gnomAD v4 |
14 | g.50944219T>A | CA389699311 | PYGL | c.185A>T (p.Asp62Val) n.252A>T | |
14 | g.50944219T>C | CA389699313 | PYGL | c.185A>G (p.Asp62Gly) n.252A>G | |
14 | g.50944219T>G | CA389699315 | PYGL | c.185A>C (p.Asp62Ala) n.252A>C | |
14 | g.50944219_50944221delinsTCG | CA2136438444 | PYGL | c.183_185delinsCGA (p.Arg61=) n.250_252delinsCGA | |
14 | g.50944220C>A | CA389699318 | PYGL | c.184G>T (p.Asp62Tyr) n.251G>T | dbSNP gnomAD v4 |
14 | g.50944220C= | CA2136438445 | PYGL | c.184G= (p.Asp62=) n.251G= | |
14 | g.50944220C>G | CA389699321 | PYGL | c.184G>C (p.Asp62His) n.251G>C | |
14 | g.50944220C>T | CA389699322 | PYGL | c.184G>A (p.Asp62Asn) n.251G>A | |
14 | g.50944223_50944224del | CA7183894 | PYGL | c.183_184del (p.Asp62ProfsTer?) n.250_251del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50944221G>A | CA486653715 | PYGL | c.183C>T (p.Arg61=) n.250C>T | gnomAD v4 |
14 | g.50944221G>C | CA7183895 | PYGL | c.183C>G (p.Arg61=) n.250C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50944221G= | CA2136438446 | PYGL | c.183C= (p.Arg61=) n.250C= | |
14 | g.50944221G>T | CA486653714 | PYGL | c.183C>A (p.Arg61=) n.250C>A | |
14 | g.50944222C>A | CA389699326 | PYGL | c.182G>T (p.Arg61Leu) n.249G>T | gnomAD v4 |
14 | g.50944222C>G | CA389699328 | PYGL | c.182G>C (p.Arg61Pro) n.249G>C | |
14 | g.50944222C>T | CA389699330 | PYGL | c.182G>A (p.Arg61His) n.249G>A | |
14 | g.50944223G>A | CA389699336 | PYGL | c.181C>T (p.Arg61Cys) n.248C>T | gnomAD v4 |
14 | g.50944223G>C | CA389699334 | PYGL | c.181C>G (p.Arg61Gly) n.248C>G | |
14 | g.50944223G= | CA2136438447 | PYGL | c.181C= (p.Arg61=) n.248C= | |
14 | g.50944223G>T | CA389699332 | PYGL | c.181C>A (p.Arg61Ser) n.248C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944224C>A | CA486653716 | PYGL | c.180G>T (p.Val60=) n.247G>T | |
14 | g.50944224C>G | CA486653717 | PYGL | c.180G>C (p.Val60=) n.247G>C | |
14 | g.50944224C>T | CA486653718 | PYGL | c.180G>A (p.Val60=) n.247G>A | |
14 | g.50944225A>C | CA389699338 | PYGL | c.179T>G (p.Val60Gly) n.246T>G | |
14 | g.50944225A>G | CA389699342 | PYGL | c.179T>C (p.Val60Ala) n.246T>C | gnomAD v4 |
14 | g.50944225A>T | CA389699340 | PYGL | c.179T>A (p.Val60Glu) n.246T>A | |
14 | g.50944226C>A | CA389699344 | PYGL | c.178G>T (p.Val60Leu) n.245G>T | gnomAD v4 |
14 | g.50944226C>G | CA389699346 | PYGL | c.178G>C (p.Val60Leu) n.245G>C | |
14 | g.50944226C>T | CA389699345 | PYGL | c.178G>A (p.Val60Met) n.245G>A | |
14 | g.50944227C>A | CA486653719 | PYGL | c.177G>T (p.Thr59=) n.244G>T | |
14 | g.50944227C= | CA2136438448 | PYGL | c.177G= (p.Thr59=) n.244G= | |
14 | g.50944227C>G | CA486653720 | PYGL | c.177G>C (p.Thr59=) n.244G>C | |
14 | g.50944227C>T | CA486653721 | PYGL | c.177G>A (p.Thr59=) n.244G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944228G>A | CA200429 | PYGL | c.176C>T (p.Thr59Met) n.243C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.50944228G>C | CA389699349 | PYGL | c.176C>G (p.Thr59Arg) n.243C>G | gnomAD v4 |
14 | g.50944228G= | CA2136438449 | PYGL | c.176C= (p.Thr59=) n.243C= | |
14 | g.50944228G>T | CA260846444 | PYGL | c.176C>A (p.Thr59Lys) n.243C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944229T>A | CA389699351 | PYGL | c.175A>T (p.Thr59Ser) n.242A>T | |
14 | g.50944229T>C | CA389699353 | PYGL | c.175A>G (p.Thr59Ala) n.242A>G | gnomAD v4 |
14 | g.50944229T>G | CA389699355 | PYGL | c.175A>C (p.Thr59Pro) n.242A>C | |
14 | g.50944230G>A | CA486653722 | PYGL | c.174C>T (p.His58=) n.241C>T | dbSNP |
14 | g.50944230G>C | CA389699357 | PYGL | c.174C>G (p.His58Gln) n.241C>G | |
14 | g.50944230G= | CA2136438450 | PYGL | c.174C= (p.His58=) n.241C= | |
14 | g.50944230G>T | CA389699358 | PYGL | c.174C>A (p.His58Gln) n.241C>A | |
14 | g.50944231T>A | CA389699360 | PYGL | c.173A>T (p.His58Leu) n.240A>T | |
14 | g.50944231T>C | CA389699362 | PYGL | c.173A>G (p.His58Arg) n.240A>G | |
14 | g.50944231T>G | CA389699364 | PYGL | c.173A>C (p.His58Pro) n.240A>C | |
14 | g.50944232G>A | CA389699370 | PYGL | c.172C>T (p.His58Tyr) n.239C>T | COSMIC |
14 | g.50944232G>C | CA389699366 | PYGL | c.172C>G (p.His58Asp) n.239C>G | |
14 | g.50944232G>T | CA389699368 | PYGL | c.172C>A (p.His58Asn) n.239C>A | |
14 | g.50944233C>A | CA486653723 | PYGL | c.171G>T (p.Ala57=) n.238G>T | |
14 | g.50944233C= | CA2136438451 | PYGL | c.171G= (p.Ala57=) n.238G= | |
14 | g.50944233C>G | CA486653724 | PYGL | c.171G>C (p.Ala57=) n.238G>C | |
14 | g.50944233C>T | CA7183896 | PYGL | c.171G>A (p.Ala57=) n.238G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50944234G>A | CA260846452 | PYGL | c.170C>T (p.Ala57Val) n.237C>T | dbSNP |
14 | g.50944234G>C | CA389699374 | PYGL | c.170C>G (p.Ala57Gly) n.237C>G | |
14 | g.50944234G= | CA2136438452 | PYGL | c.170C= (p.Ala57=) n.237C= | |
14 | g.50944234G>T | CA389699376 | PYGL | c.170C>A (p.Ala57Glu) n.237C>A | |
14 | g.50944235C>A | CA389699378 | PYGL | c.169G>T (p.Ala57Ser) n.236G>T | |
14 | g.50944235C>G | CA389699379 | PYGL | c.169G>C (p.Ala57Pro) n.236G>C | |
14 | g.50944235C>T | CA389699380 | PYGL | c.169G>A (p.Ala57Thr) n.236G>A | |
14 | g.50944236C>A | CA486653725 | PYGL | c.168G>T (p.Leu56=) n.235G>T | |
14 | g.50944236C>G | CA486653726 | PYGL | c.168G>C (p.Leu56=) n.235G>C | |
14 | g.50944236C>T | CA486653727 | PYGL | c.168G>A (p.Leu56=) n.235G>A | |
14 | g.50944237A= | CA2136438453 | PYGL | c.167T= (p.Leu56=) n.234T= | |
14 | g.50944237A>C | CA389699382 | PYGL | c.167T>G (p.Leu56Arg) n.234T>G | |
14 | g.50944237A>G | CA389699384 | PYGL | c.167T>C (p.Leu56Pro) n.234T>C | dbSNP |
14 | g.50944237A>T | CA389699385 | PYGL | c.167T>A (p.Leu56Gln) n.234T>A | |
14 | g.50944238G>A | CA7183898 | PYGL | c.166C>T (p.Leu56=) n.233C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944238G>C | CA389699387 | PYGL | c.166C>G (p.Leu56Val) n.233C>G | |
14 | g.50944238G= | CA2136438454 | PYGL | c.166C= (p.Leu56=) n.233C= | |
14 | g.50944238G>T | CA7183897 | PYGL | c.166C>A (p.Leu56Met) n.233C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944239C>A | CA486653728 | PYGL | c.165G>T (p.Ala55=) n.232G>T | |
14 | g.50944239C= | CA2136438455 | PYGL | c.165G= (p.Ala55=) n.232G= | |
14 | g.50944239C>G | CA486653729 | PYGL | c.165G>C (p.Ala55=) n.232G>C | gnomAD v4 |
14 | g.50944239C>T | CA486653730 | PYGL | c.165G>A (p.Ala55=) n.232G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944240G>A | CA389699390 | PYGL | c.164C>T (p.Ala55Val) n.231C>T | gnomAD v4 |
14 | g.50944240G>C | CA389699393 | PYGL | c.164C>G (p.Ala55Gly) n.231C>G | |
14 | g.50944240G>T | CA389699395 | PYGL | c.164C>A (p.Ala55Glu) n.231C>A | |
14 | g.50944241C>A | CA389699398 | PYGL | c.163G>T (p.Ala55Ser) n.230G>T | |
14 | g.50944241C>G | CA389699400 | PYGL | c.163G>C (p.Ala55Pro) n.230G>C | |
14 | g.50944241C>T | CA389699402 | PYGL | c.163G>A (p.Ala55Thr) n.230G>A | |
14 | g.50944242G>A | CA486653731 | PYGL | c.162C>T (p.Phe54=) n.229C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944242G>C | CA260846465 | PYGL | c.162C>G (p.Phe54Leu) n.229C>G | dbSNP gnomAD v4 |
14 | g.50944242G= | CA2136438456 | PYGL | c.162C= (p.Phe54=) n.229C= | |
14 | g.50944242G>T | CA389699405 | PYGL | c.162C>A (p.Phe54Leu) n.229C>A | gnomAD v4 |
14 | g.50944243_50944245del | CA2801554674 | PYGL | c.160_162del (p.Phe54del) n.227_229del | |
14 | g.50944243A>C | CA389699407 | PYGL | c.161T>G (p.Phe54Cys) n.228T>G | |
14 | g.50944243A>G | CA389699409 | PYGL | c.161T>C (p.Phe54Ser) n.228T>C | |
14 | g.50944243A>T | CA389699411 | PYGL | c.161T>A (p.Phe54Tyr) n.228T>A | |
14 | g.50944244A>C | CA389699418 | PYGL | c.160T>G (p.Phe54Val) n.227T>G | |
14 | g.50944244A>G | CA389699416 | PYGL | c.160T>C (p.Phe54Leu) n.227T>C | gnomAD v4 |
14 | g.50944244A>T | CA389699414 | PYGL | c.160T>A (p.Phe54Ile) n.227T>A | |
14 | g.50944250_50944252del | CA2695219352 | PYGL | c.158_160del (p.Tyr53del) n.225_227del | |
14 | g.50944245G>A | CA486653732 | PYGL | c.159C>T (p.Tyr53=) n.226C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50944245G>C | CA389699420 | PYGL | c.159C>G (p.Tyr53Ter) n.226C>G | |
14 | g.50944245G= | CA2136438457 | PYGL | c.159C= (p.Tyr53=) n.226C= | |
14 | g.50944245G>T | CA389699422 | PYGL | c.159C>A (p.Tyr53Ter) n.226C>A | |
14 | g.50944246T>A | CA389699424 | PYGL | c.158A>T (p.Tyr53Phe) n.225A>T | |
14 | g.50944246T>C | CA389699426 | PYGL | c.158A>G (p.Tyr53Cys) n.225A>G | |
14 | g.50944246T>G | CA389699428 | PYGL | c.158A>C (p.Tyr53Ser) n.225A>C | |
14 | g.50944247A>C | CA389699429 | PYGL | c.157T>G (p.Tyr53Asp) n.224T>G | |
14 | g.50944247A>G | CA389699431 | PYGL | c.157T>C (p.Tyr53His) n.224T>C | ClinVar |
14 | g.50944247A>T | CA389699433 | PYGL | c.157T>A (p.Tyr53Asn) n.224T>A | |
14 | g.50944248G>A | CA486653733 | PYGL | c.156C>T (p.Tyr52=) n.223C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50944248G>C | CA389699435 | PYGL | c.156C>G (p.Tyr52Ter) n.223C>G | |
14 | g.50944248G= | CA2136438458 | PYGL | c.156C= (p.Tyr52=) n.223C= | |
14 | g.50944248G>T | CA389699437 | PYGL | c.156C>A (p.Tyr52Ter) n.223C>A | |
14 | g.50944249T>A | CA389699439 | PYGL | c.155A>T (p.Tyr52Phe) n.222A>T | |
14 | g.50944249T>C | CA389699441 | PYGL | c.155A>G (p.Tyr52Cys) n.222A>G | COSMIC |
14 | g.50944249T>G | CA389699442 | PYGL | c.155A>C (p.Tyr52Ser) n.222A>C | |
14 | g.50944250A>C | CA389699448 | PYGL | c.154T>G (p.Tyr52Asp) n.221T>G | |
14 | g.50944250A>G | CA389699446 | PYGL | c.154T>C (p.Tyr52His) n.221T>C | |
14 | g.50944250A>T | CA389699444 | PYGL | c.154T>A (p.Tyr52Asn) n.221T>A |