Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.21562972G>A | CA478869504 | GYS2 | c.1008C>T (p.Asn336=) c.*1010C>T (n.*1010C>T) n.935C>T c.789C>T (p.Asn263=) c.777C>T (p.Asn259=) | gnomAD v4 |
12 | g.21562972G>C | CA384132594 | GYS2 | c.1008C>G (p.Asn336Lys) c.*1010C>G (n.*1010C>G) n.935C>G c.789C>G (p.Asn263Lys) c.777C>G (p.Asn259Lys) | |
12 | g.21562972G>T | CA384132596 | GYS2 | c.1008C>A (p.Asn336Lys) c.*1010C>A (n.*1010C>A) n.935C>A c.789C>A (p.Asn263Lys) c.777C>A (p.Asn259Lys) | |
12 | g.21562973T>A | CA384132598 | GYS2 | c.1007A>T (p.Asn336Ile) c.*1009A>T (n.*1009A>T) n.934A>T c.788A>T (p.Asn263Ile) c.776A>T (p.Asn259Ile) | |
12 | g.21562973T>C | CA384132600 | GYS2 | c.1007A>G (p.Asn336Ser) c.*1009A>G (n.*1009A>G) n.934A>G c.788A>G (p.Asn263Ser) c.776A>G (p.Asn259Ser) | |
12 | g.21562973T>G | CA384132603 | GYS2 | c.1007A>C (p.Asn336Thr) c.*1009A>C (n.*1009A>C) n.934A>C c.788A>C (p.Asn263Thr) c.776A>C (p.Asn259Thr) | |
12 | g.21562974T>A | CA384132609 | GYS2 | c.1006A>T (p.Asn336Tyr) c.*1008A>T (n.*1008A>T) n.933A>T c.787A>T (p.Asn263Tyr) c.775A>T (p.Asn259Tyr) | |
12 | g.21562974T>C | CA384132608 | GYS2 | c.1006A>G (p.Asn336Asp) c.*1008A>G (n.*1008A>G) n.933A>G c.787A>G (p.Asn263Asp) c.775A>G (p.Asn259Asp) | |
12 | g.21562974T>G | CA384132605 | GYS2 | c.1006A>C (p.Asn336His) c.*1008A>C (n.*1008A>C) n.933A>C c.787A>C (p.Asn263His) c.775A>C (p.Asn259His) | |
12 | g.21562975T>A | CA478869505 | GYS2 | c.1005A>T (p.Ser335=) c.*1007A>T (n.*1007A>T) n.932A>T c.786A>T (p.Ser262=) c.774A>T (p.Ser258=) | |
12 | g.21562975T>C | CA478869506 | GYS2 | c.1005A>G (p.Ser335=) c.*1007A>G (n.*1007A>G) n.932A>G c.786A>G (p.Ser262=) c.774A>G (p.Ser258=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562975T>G | CA478869507 | GYS2 | c.1005A>C (p.Ser335=) c.*1007A>C (n.*1007A>C) n.932A>C c.786A>C (p.Ser262=) c.774A>C (p.Ser258=) | |
12 | g.21562975T= | CA2021178855 | GYS2 | c.1005A= (p.Ser335=) c.*1007A= (n.*1007A=) n.932A= c.786A= (p.Ser262=) c.774A= (p.Ser258=) | |
12 | g.21562976G>A | CA6480024 | GYS2 | c.1004C>T (p.Ser335Leu) c.*1006C>T (n.*1006C>T) n.931C>T c.785C>T (p.Ser262Leu) c.773C>T (p.Ser258Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562976G>C | CA384132614 | GYS2 | c.1004C>G (p.Ser335Ter) c.*1006C>G (n.*1006C>G) n.931C>G c.785C>G (p.Ser262Ter) c.773C>G (p.Ser258Ter) | |
12 | g.21562976G= | CA2021178857 | GYS2 | c.1004C= (p.Ser335=) c.*1006C= (n.*1006C=) n.931C= c.785C= (p.Ser262=) c.773C= (p.Ser258=) | |
12 | g.21562976G>T | CA384132618 | GYS2 | c.1004C>A (p.Ser335Ter) c.*1006C>A (n.*1006C>A) n.931C>A c.785C>A (p.Ser262Ter) c.773C>A (p.Ser258Ter) | COSMIC |
12 | g.21562977A>C | CA384132623 | GYS2 | c.1003T>G (p.Ser335Ala) c.*1005T>G (n.*1005T>G) n.930T>G c.784T>G (p.Ser262Ala) c.772T>G (p.Ser258Ala) | |
12 | g.21562977A>G | CA384132626 | GYS2 | c.1003T>C (p.Ser335Pro) c.*1005T>C (n.*1005T>C) n.930T>C c.784T>C (p.Ser262Pro) c.772T>C (p.Ser258Pro) | |
12 | g.21562977A>T | CA384132630 | GYS2 | c.1003T>A (p.Ser335Thr) c.*1005T>A (n.*1005T>A) n.930T>A c.784T>A (p.Ser262Thr) c.772T>A (p.Ser258Thr) | |
12 | g.21562978A= | CA2021178862 | GYS2 | c.1002T= (p.Phe334=) c.*1004T= (n.*1004T=) n.929T= c.783T= (p.Phe261=) c.771T= (p.Phe257=) | |
12 | g.21562978A>C | CA384132632 | GYS2 | c.1002T>G (p.Phe334Leu) c.*1004T>G (n.*1004T>G) n.929T>G c.783T>G (p.Phe261Leu) c.771T>G (p.Phe257Leu) | |
12 | g.21562978A>G | CA233607124 | GYS2 | c.1002T>C (p.Phe334=) c.*1004T>C (n.*1004T>C) n.929T>C c.783T>C (p.Phe261=) c.771T>C (p.Phe257=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21562978A>T | CA384132639 | GYS2 | c.1002T>A (p.Phe334Leu) c.*1004T>A (n.*1004T>A) n.929T>A c.783T>A (p.Phe261Leu) c.771T>A (p.Phe257Leu) | |
12 | g.21562979A>C | CA384132644 | GYS2 | c.1001T>G (p.Phe334Cys) c.*1003T>G (n.*1003T>G) n.928T>G c.782T>G (p.Phe261Cys) c.770T>G (p.Phe257Cys) | |
12 | g.21562979A>G | CA384132653 | GYS2 | c.1001T>C (p.Phe334Ser) c.*1003T>C (n.*1003T>C) n.928T>C c.782T>C (p.Phe261Ser) c.770T>C (p.Phe257Ser) | |
12 | g.21562979A>T | CA384132656 | GYS2 | c.1001T>A (p.Phe334Tyr) c.*1003T>A (n.*1003T>A) n.928T>A c.782T>A (p.Phe261Tyr) c.770T>A (p.Phe257Tyr) | |
12 | g.21562980A>C | CA384132670 | GYS2 | c.1000T>G (p.Phe334Val) c.*1002T>G (n.*1002T>G) n.927T>G c.781T>G (p.Phe261Val) c.769T>G (p.Phe257Val) | |
12 | g.21562980A>G | CA384132661 | GYS2 | c.1000T>C (p.Phe334Leu) c.*1002T>C (n.*1002T>C) n.927T>C c.781T>C (p.Phe261Leu) c.769T>C (p.Phe257Leu) | |
12 | g.21562980A>T | CA384132664 | GYS2 | c.1000T>A (p.Phe334Ile) c.*1002T>A (n.*1002T>A) n.927T>A c.781T>A (p.Phe261Ile) c.769T>A (p.Phe257Ile) | |
12 | g.21562981C>A | CA384132673 | GYS2 | c.999G>T (p.Glu333Asp) c.*1001G>T (n.*1001G>T) n.926G>T c.780G>T (p.Glu260Asp) c.768G>T (p.Glu256Asp) | |
12 | g.21562981C>G | CA384132675 | GYS2 | c.999G>C (p.Glu333Asp) c.*1001G>C (n.*1001G>C) n.926G>C c.780G>C (p.Glu260Asp) c.768G>C (p.Glu256Asp) | |
12 | g.21562981C>T | CA478869508 | GYS2 | c.999G>A (p.Glu333=) c.*1001G>A (n.*1001G>A) n.926G>A c.780G>A (p.Glu260=) c.768G>A (p.Glu256=) | |
12 | g.21562982T>A | CA384132680 | GYS2 | c.998A>T (p.Glu333Val) c.*1000A>T (n.*1000A>T) n.925A>T c.779A>T (p.Glu260Val) c.767A>T (p.Glu256Val) | |
12 | g.21562982T>C | CA384132686 | GYS2 | c.998A>G (p.Glu333Gly) c.*1000A>G (n.*1000A>G) n.925A>G c.779A>G (p.Glu260Gly) c.767A>G (p.Glu256Gly) | |
12 | g.21562982T>G | CA384132689 | GYS2 | c.998A>C (p.Glu333Ala) c.*1000A>C (n.*1000A>C) n.925A>C c.779A>C (p.Glu260Ala) c.767A>C (p.Glu256Ala) | |
12 | g.21562983C>A | CA384132694 | GYS2 | c.997G>T (p.Glu333Ter) c.*999G>T (n.*999G>T) n.924G>T c.778G>T (p.Glu260Ter) c.766G>T (p.Glu256Ter) | |
12 | g.21562983C= | CA2021178865 | GYS2 | c.997G= (p.Glu333=) c.*999G= (n.*999G=) n.924G= c.778G= (p.Glu260=) c.766G= (p.Glu256=) | |
12 | g.21562983C>G | CA384132697 | GYS2 | c.997G>C (p.Glu333Gln) c.*999G>C (n.*999G>C) n.924G>C c.778G>C (p.Glu260Gln) c.766G>C (p.Glu256Gln) | dbSNP gnomAD v2 |
12 | g.21562983C>T | CA384132701 | GYS2 | c.997G>A (p.Glu333Lys) c.*999G>A (n.*999G>A) n.924G>A c.778G>A (p.Glu260Lys) c.766G>A (p.Glu256Lys) | |
12 | g.21562983_21562985delinsCAT | CA2021178864 | GYS2 | c.995_997delinsATG (p.Tyr332=) c.*997_*999delinsATG (n.*997_*999delinsATG) n.922_924delinsATG c.776_778delinsATG (p.Tyr259=) c.764_766delinsATG (p.Tyr255=) | |
12 | g.21562984A>C | CA384132705 | GYS2 | c.996T>G (p.Tyr332Ter) c.*998T>G (n.*998T>G) n.923T>G c.777T>G (p.Tyr259Ter) c.765T>G (p.Tyr255Ter) | |
12 | g.21562984A>G | CA478869510 | GYS2 | c.996T>C (p.Tyr332=) c.*998T>C (n.*998T>C) n.923T>C c.777T>C (p.Tyr259=) c.765T>C (p.Tyr255=) | gnomAD v4 |
12 | g.21562984A>T | CA384132708 | GYS2 | c.996T>A (p.Tyr332Ter) c.*998T>A (n.*998T>A) n.923T>A c.777T>A (p.Tyr259Ter) c.765T>A (p.Tyr255Ter) | |
12 | g.21562985_21562986del | CA6480025 | GYS2 | c.995_996del (p.Tyr332Ter) c.*997_*998del (n.*997_*998del) n.922_923del c.776_777del (p.Tyr259Ter) c.764_765del (p.Tyr255Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21562985T>A | CA384132734 | GYS2 | c.995A>T (p.Tyr332Phe) c.*997A>T (n.*997A>T) n.922A>T c.776A>T (p.Tyr259Phe) c.764A>T (p.Tyr255Phe) | |
12 | g.21562985T>C | CA384132727 | GYS2 | c.995A>G (p.Tyr332Cys) c.*997A>G (n.*997A>G) n.922A>G c.776A>G (p.Tyr259Cys) c.764A>G (p.Tyr255Cys) | |
12 | g.21562985T>G | CA384132724 | GYS2 | c.995A>C (p.Tyr332Ser) c.*997A>C (n.*997A>C) n.922A>C c.776A>C (p.Tyr259Ser) c.764A>C (p.Tyr255Ser) | |
12 | g.21562986A= | CA2021178871 | GYS2 | c.994T= (p.Tyr332=) c.*996T= (n.*996T=) n.921T= c.775T= (p.Tyr259=) c.763T= (p.Tyr255=) | |
12 | g.21562986A>C | CA384132737 | GYS2 | c.994T>G (p.Tyr332Asp) c.*996T>G (n.*996T>G) n.921T>G c.775T>G (p.Tyr259Asp) c.763T>G (p.Tyr255Asp) | |
12 | g.21562986A>G | CA384132744 | GYS2 | c.994T>C (p.Tyr332His) c.*996T>C (n.*996T>C) n.921T>C c.775T>C (p.Tyr259His) c.763T>C (p.Tyr255His) | |
12 | g.21562986A>T | CA6480026 | GYS2 | c.994T>A (p.Tyr332Asn) c.*996T>A (n.*996T>A) n.921T>A c.775T>A (p.Tyr259Asn) c.763T>A (p.Tyr255Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21562987C>A | CA233607133 | GYS2 | c.993G>T (p.Arg331Ser) c.*995G>T (n.*995G>T) n.920G>T c.774G>T (p.Arg258Ser) c.762G>T (p.Arg254Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562987C= | CA2021178875 | GYS2 | c.993G= (p.Arg331=) c.*995G= (n.*995G=) n.920G= c.774G= (p.Arg258=) c.762G= (p.Arg254=) | |
12 | g.21562987C>G | CA384132753 | GYS2 | c.993G>C (p.Arg331Ser) c.*995G>C (n.*995G>C) n.920G>C c.774G>C (p.Arg258Ser) c.762G>C (p.Arg254Ser) | |
12 | g.21562987C>T | CA478869511 | GYS2 | c.993G>A (p.Arg331=) c.*995G>A (n.*995G>A) n.920G>A c.774G>A (p.Arg258=) c.762G>A (p.Arg254=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21562988C>A | CA384132759 | GYS2 | c.992G>T (p.Arg331Met) c.*994G>T (n.*994G>T) n.919G>T c.773G>T (p.Arg258Met) c.761G>T (p.Arg254Met) | |
12 | g.21562988C= | CA2021178881 | GYS2 | c.992G= (p.Arg331=) c.*994G= (n.*994G=) n.919G= c.773G= (p.Arg258=) c.761G= (p.Arg254=) | |
12 | g.21562988C>G | CA384132762 | GYS2 | c.992G>C (p.Arg331Thr) c.*994G>C (n.*994G>C) n.919G>C c.773G>C (p.Arg258Thr) c.761G>C (p.Arg254Thr) | |
12 | g.21562988C>T | CA6480027 | GYS2 | c.992G>A (p.Arg331Lys) c.*994G>A (n.*994G>A) n.919G>A c.773G>A (p.Arg258Lys) c.761G>A (p.Arg254Lys) | dbSNP ExAC gnomAD v2 COSMIC |
12 | g.21562989T>A | CA384132763 | GYS2 | c.991A>T (p.Arg331Trp) c.*993A>T (n.*993A>T) n.918A>T c.772A>T (p.Arg258Trp) c.760A>T (p.Arg254Trp) | |
12 | g.21562989T>C | CA384132764 | GYS2 | c.991A>G (p.Arg331Gly) c.*993A>G (n.*993A>G) n.918A>G c.772A>G (p.Arg258Gly) c.760A>G (p.Arg254Gly) | |
12 | g.21562989T>G | CA478869515 | GYS2 | c.991A>C (p.Arg331=) c.*993A>C (n.*993A>C) n.918A>C c.772A>C (p.Arg258=) c.760A>C (p.Arg254=) | |
12 | g.21562990C>A | CA478869516 | GYS2 | c.990G>T (p.Gly330=) c.*992G>T (n.*992G>T) n.917G>T c.771G>T (p.Gly257=) c.759G>T (p.Gly253=) | |
12 | g.21562990C>G | CA478869517 | GYS2 | c.990G>C (p.Gly330=) c.*992G>C (n.*992G>C) n.917G>C c.771G>C (p.Gly257=) c.759G>C (p.Gly253=) | |
12 | g.21562990C>T | CA478869518 | GYS2 | c.990G>A (p.Gly330=) c.*992G>A (n.*992G>A) n.917G>A c.771G>A (p.Gly257=) c.759G>A (p.Gly253=) | gnomAD v4 |
12 | g.21562991C>A | CA233607142 | GYS2 | c.989G>T (p.Gly330Val) c.*991G>T (n.*991G>T) n.916G>T c.770G>T (p.Gly257Val) c.758G>T (p.Gly253Val) | dbSNP |
12 | g.21562991C= | CA2021178884 | GYS2 | c.989G= (p.Gly330=) c.*991G= (n.*991G=) n.916G= c.770G= (p.Gly257=) c.758G= (p.Gly253=) | |
12 | g.21562991C>G | CA384132768 | GYS2 | c.989G>C (p.Gly330Ala) c.*991G>C (n.*991G>C) n.916G>C c.770G>C (p.Gly257Ala) c.758G>C (p.Gly253Ala) | dbSNP gnomAD v4 |
12 | g.21562991C>T | CA384132770 | GYS2 | c.989G>A (p.Gly330Glu) c.*991G>A (n.*991G>A) n.916G>A c.770G>A (p.Gly257Glu) c.758G>A (p.Gly253Glu) | gnomAD v4 |
12 | g.21562992C>A | CA384132775 | GYS2 | c.988G>T (p.Gly330Trp) c.*990G>T (n.*990G>T) n.915G>T c.769G>T (p.Gly257Trp) c.757G>T (p.Gly253Trp) | COSMIC |
12 | g.21562992C>G | CA384132787 | GYS2 | c.988G>C (p.Gly330Arg) c.*990G>C (n.*990G>C) n.915G>C c.769G>C (p.Gly257Arg) c.757G>C (p.Gly253Arg) | |
12 | g.21562992C>T | CA384132791 | GYS2 | c.988G>A (p.Gly330Arg) c.*990G>A (n.*990G>A) n.915G>A c.769G>A (p.Gly257Arg) c.757G>A (p.Gly253Arg) | |
12 | g.21562993A>C | CA478869522 | GYS2 | c.987T>G (p.Ala329=) c.*989T>G (n.*989T>G) n.914T>G c.768T>G (p.Ala256=) c.756T>G (p.Ala252=) | |
12 | g.21562993A>G | CA478869520 | GYS2 | c.987T>C (p.Ala329=) c.*989T>C (n.*989T>C) n.914T>C c.768T>C (p.Ala256=) c.756T>C (p.Ala252=) | |
12 | g.21562993A>T | CA478869519 | GYS2 | c.987T>A (p.Ala329=) c.*989T>A (n.*989T>A) n.914T>A c.768T>A (p.Ala256=) c.756T>A (p.Ala252=) | |
12 | g.21562994G>A | CA6480028 | GYS2 | c.986C>T (p.Ala329Val) c.*988C>T (n.*988C>T) n.913C>T c.767C>T (p.Ala256Val) c.755C>T (p.Ala252Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21562994G>C | CA384132811 | GYS2 | c.986C>G (p.Ala329Gly) c.*988C>G (n.*988C>G) n.913C>G c.767C>G (p.Ala256Gly) c.755C>G (p.Ala252Gly) | |
12 | g.21562994G= | CA2021178886 | GYS2 | c.986C= (p.Ala329=) c.*988C= (n.*988C=) n.913C= c.767C= (p.Ala256=) c.755C= (p.Ala252=) | |
12 | g.21562994G>T | CA384132806 | GYS2 | c.986C>A (p.Ala329Asp) c.*988C>A (n.*988C>A) n.913C>A c.767C>A (p.Ala256Asp) c.755C>A (p.Ala252Asp) | |
12 | g.21562995C>A | CA384132813 | GYS2 | c.985G>T (p.Ala329Ser) c.*987G>T (n.*987G>T) n.912G>T c.766G>T (p.Ala256Ser) c.754G>T (p.Ala252Ser) | gnomAD v4 |
12 | g.21562995C>G | CA384132814 | GYS2 | c.985G>C (p.Ala329Pro) c.*987G>C (n.*987G>C) n.912G>C c.766G>C (p.Ala256Pro) c.754G>C (p.Ala252Pro) | |
12 | g.21562995C>T | CA384132816 | GYS2 | c.985G>A (p.Ala329Thr) c.*987G>A (n.*987G>A) n.912G>A c.766G>A (p.Ala256Thr) c.754G>A (p.Ala252Thr) | |
12 | g.21562995_21562997del | CA2725947027 | GYS2 | c.983_985del (p.Ile328_Ala329delinsThr) c.*985_*987del (n.*985_*987del) n.910_912del c.764_766del (p.Ile255_Ala256delinsThr) c.752_754del (p.Ile251_Ala252delinsThr) | dbSNP |
12 | g.21562996A>C | CA384132822 | GYS2 | c.984T>G (p.Ile328Met) c.*986T>G (n.*986T>G) n.911T>G c.765T>G (p.Ile255Met) c.753T>G (p.Ile251Met) | |
12 | g.21562996A>G | CA478869525 | GYS2 | c.984T>C (p.Ile328=) c.*986T>C (n.*986T>C) n.911T>C c.765T>C (p.Ile255=) c.753T>C (p.Ile251=) | |
12 | g.21562996A>T | CA478869526 | GYS2 | c.984T>A (p.Ile328=) c.*986T>A (n.*986T>A) n.911T>A c.765T>A (p.Ile255=) c.753T>A (p.Ile251=) | gnomAD v4 |
12 | g.21562997A= | CA2021178888 | GYS2 | c.983T= (p.Ile328=) c.*985T= (n.*985T=) n.910T= c.764T= (p.Ile255=) c.752T= (p.Ile251=) | |
12 | g.21562997A>C | CA384132831 | GYS2 | c.983T>G (p.Ile328Ser) c.*985T>G (n.*985T>G) n.910T>G c.764T>G (p.Ile255Ser) c.752T>G (p.Ile251Ser) | |
12 | g.21562997A>G | CA384132836 | GYS2 | c.983T>C (p.Ile328Thr) c.*985T>C (n.*985T>C) n.910T>C c.764T>C (p.Ile255Thr) c.752T>C (p.Ile251Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562997A>T | CA384132846 | GYS2 | c.983T>A (p.Ile328Asn) c.*985T>A (n.*985T>A) n.910T>A c.764T>A (p.Ile255Asn) c.752T>A (p.Ile251Asn) | |
12 | g.21562998T>A | CA384132850 | GYS2 | c.982A>T (p.Ile328Phe) c.*984A>T (n.*984A>T) n.909A>T c.763A>T (p.Ile255Phe) c.751A>T (p.Ile251Phe) | |
12 | g.21562998T>C | CA384132852 | GYS2 | c.982A>G (p.Ile328Val) c.*984A>G (n.*984A>G) n.909A>G c.763A>G (p.Ile255Val) c.751A>G (p.Ile251Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21562998T>G | CA384132854 | GYS2 | c.982A>C (p.Ile328Leu) c.*984A>C (n.*984A>C) n.909A>C c.763A>C (p.Ile255Leu) c.751A>C (p.Ile251Leu) | |
12 | g.21562998T= | CA2021178890 | GYS2 | c.982A= (p.Ile328=) c.*984A= (n.*984A=) n.909A= c.763A= (p.Ile255=) c.751A= (p.Ile251=) | |
12 | g.21562999G>A | CA478869528 | GYS2 | c.981C>T (p.Phe327=) c.*983C>T (n.*983C>T) n.908C>T c.762C>T (p.Phe254=) c.750C>T (p.Phe250=) | gnomAD v4 COSMIC |
12 | g.21562999G>C | CA384132856 | GYS2 | c.981C>G (p.Phe327Leu) c.*983C>G (n.*983C>G) n.908C>G c.762C>G (p.Phe254Leu) c.750C>G (p.Phe250Leu) | |
12 | g.21562999G= | CA2021178892 | GYS2 | c.981C= (p.Phe327=) c.*983C= (n.*983C=) n.908C= c.762C= (p.Phe254=) c.750C= (p.Phe250=) | |
12 | g.21562999G>T | CA384132861 | GYS2 | c.981C>A (p.Phe327Leu) c.*983C>A (n.*983C>A) n.908C>A c.762C>A (p.Phe254Leu) c.750C>A (p.Phe250Leu) | dbSNP |
12 | g.21563000A>C | CA384132866 | GYS2 | c.980T>G (p.Phe327Cys) c.*982T>G (n.*982T>G) n.907T>G c.761T>G (p.Phe254Cys) c.749T>G (p.Phe250Cys) | |
12 | g.21563000A>G | CA384132890 | GYS2 | c.980T>C (p.Phe327Ser) c.*982T>C (n.*982T>C) n.907T>C c.761T>C (p.Phe254Ser) c.749T>C (p.Phe250Ser) | |
12 | g.21563000A>T | CA384132899 | GYS2 | c.980T>A (p.Phe327Tyr) c.*982T>A (n.*982T>A) n.907T>A c.761T>A (p.Phe254Tyr) c.749T>A (p.Phe250Tyr) | |
12 | g.21563001A>C | CA384132903 | GYS2 | c.979T>G (p.Phe327Val) c.*981T>G (n.*981T>G) n.906T>G c.760T>G (p.Phe254Val) c.748T>G (p.Phe250Val) | |
12 | g.21563001A>G | CA384132906 | GYS2 | c.979T>C (p.Phe327Leu) c.*981T>C (n.*981T>C) n.906T>C c.760T>C (p.Phe254Leu) c.748T>C (p.Phe250Leu) | |
12 | g.21563001A>T | CA384132910 | GYS2 | c.979T>A (p.Phe327Ile) c.*981T>A (n.*981T>A) n.906T>A c.760T>A (p.Phe254Ile) c.748T>A (p.Phe250Ile) | |
12 | g.21563002A>C | CA478869531 | GYS2 | c.978T>G (p.Leu326=) c.*980T>G (n.*980T>G) n.905T>G c.759T>G (p.Leu253=) c.747T>G (p.Leu249=) | |
12 | g.21563002A>G | CA478869532 | GYS2 | c.978T>C (p.Leu326=) c.*980T>C (n.*980T>C) n.905T>C c.759T>C (p.Leu253=) c.747T>C (p.Leu249=) | gnomAD v4 |
12 | g.21563002A>T | CA478869533 | GYS2 | c.978T>A (p.Leu326=) c.*980T>A (n.*980T>A) n.905T>A c.759T>A (p.Leu253=) c.747T>A (p.Leu249=) | |
12 | g.21563003A>C | CA384132928 | GYS2 | c.977T>G (p.Leu326Arg) c.*979T>G (n.*979T>G) n.904T>G c.758T>G (p.Leu253Arg) c.746T>G (p.Leu249Arg) | gnomAD v4 |
12 | g.21563003A>G | CA384132920 | GYS2 | c.977T>C (p.Leu326Pro) c.*979T>C (n.*979T>C) n.904T>C c.758T>C (p.Leu253Pro) c.746T>C (p.Leu249Pro) | gnomAD v4 |
12 | g.21563003A>T | CA384132925 | GYS2 | c.977T>A (p.Leu326His) c.*979T>A (n.*979T>A) n.904T>A c.758T>A (p.Leu253His) c.746T>A (p.Leu249His) | |
12 | g.21563004G>A | CA384132930 | GYS2 | c.976C>T (p.Leu326Phe) c.*978C>T (n.*978C>T) n.903C>T c.757C>T (p.Leu253Phe) c.745C>T (p.Leu249Phe) | |
12 | g.21563004G>C | CA384132931 | GYS2 | c.976C>G (p.Leu326Val) c.*978C>G (n.*978C>G) n.903C>G c.757C>G (p.Leu253Val) c.745C>G (p.Leu249Val) | |
12 | g.21563004G>T | CA384132934 | GYS2 | c.976C>A (p.Leu326Ile) c.*978C>A (n.*978C>A) n.903C>A c.757C>A (p.Leu253Ile) c.745C>A (p.Leu249Ile) | |
12 | g.21563004_21563005del | CA2617923607 | GYS2 | c.975_976del (p.Leu326PhefsTer7) c.*977_*978del (n.*977_*978del) n.902_903del c.756_757del (p.Leu253PhefsTer7) c.744_745del (p.Leu249PhefsTer7) | gnomAD v4 |
12 | g.21563005G>A | CA478869537 | GYS2 | c.975C>T (p.Phe325=) c.*977C>T (n.*977C>T) n.902C>T c.756C>T (p.Phe252=) c.744C>T (p.Phe248=) | |
12 | g.21563005G>C | CA384132946 | GYS2 | c.975C>G (p.Phe325Leu) c.*977C>G (n.*977C>G) n.902C>G c.756C>G (p.Phe252Leu) c.744C>G (p.Phe248Leu) | |
12 | g.21563005G>T | CA384132963 | GYS2 | c.975C>A (p.Phe325Leu) c.*977C>A (n.*977C>A) n.902C>A c.756C>A (p.Phe252Leu) c.744C>A (p.Phe248Leu) | |
12 | g.21563005_21563080delinsGAACAAAGTCTTTTCAAGATCAAAGTCGAGATGACTAAAACAAAACAAAACCAAACAGTTTCAAATGAAATACAGC | CA2021178894 | GYS2 | c.942-42_975delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC c.*944-42_*977delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC n.869-42_902delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC c.723-42_756delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC c.711-42_744delinsGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTTC | |
12 | g.21563006A>C | CA384132968 | GYS2 | c.974T>G (p.Phe325Cys) c.*976T>G (n.*976T>G) n.901T>G c.755T>G (p.Phe252Cys) c.743T>G (p.Phe248Cys) | |
12 | g.21563006A>G | CA384133003 | GYS2 | c.974T>C (p.Phe325Ser) c.*976T>C (n.*976T>C) n.901T>C c.755T>C (p.Phe252Ser) c.743T>C (p.Phe248Ser) | |
12 | g.21563006A>T | CA384132975 | GYS2 | c.974T>A (p.Phe325Tyr) c.*976T>A (n.*976T>A) n.901T>A c.755T>A (p.Phe252Tyr) c.743T>A (p.Phe248Tyr) | |
12 | g.21563010_21563084del | CA322856 | GYS2 | c.942-42_974del c.*944-42_*976del n.869-42_901del c.723-42_755del c.711-42_743del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563007A>C | CA384133010 | GYS2 | c.973T>G (p.Phe325Val) c.*975T>G (n.*975T>G) n.900T>G c.754T>G (p.Phe252Val) c.742T>G (p.Phe248Val) | |
12 | g.21563007A>G | CA384133013 | GYS2 | c.973T>C (p.Phe325Leu) c.*975T>C (n.*975T>C) n.900T>C c.754T>C (p.Phe252Leu) c.742T>C (p.Phe248Leu) | gnomAD v4 |
12 | g.21563007A>T | CA384133016 | GYS2 | c.973T>A (p.Phe325Ile) c.*975T>A (n.*975T>A) n.900T>A c.754T>A (p.Phe252Ile) c.742T>A (p.Phe248Ile) | |
12 | g.21563008C>A | CA384133032 | GYS2 | c.972G>T (p.Leu324Phe) c.*974G>T (n.*974G>T) n.899G>T c.753G>T (p.Leu251Phe) c.741G>T (p.Leu247Phe) | |
12 | g.21563008C>G | CA384133040 | GYS2 | c.972G>C (p.Leu324Phe) c.*974G>C (n.*974G>C) n.899G>C c.753G>C (p.Leu251Phe) c.741G>C (p.Leu247Phe) | |
12 | g.21563008C>T | CA478869538 | GYS2 | c.972G>A (p.Leu324=) c.*974G>A (n.*974G>A) n.899G>A c.753G>A (p.Leu251=) c.741G>A (p.Leu247=) | |
12 | g.21563009A>C | CA384133048 | GYS2 | c.971T>G (p.Leu324Trp) c.*973T>G (n.*973T>G) n.898T>G c.752T>G (p.Leu251Trp) c.740T>G (p.Leu247Trp) | |
12 | g.21563009A>G | CA384133049 | GYS2 | c.971T>C (p.Leu324Ser) c.*973T>C (n.*973T>C) n.898T>C c.752T>C (p.Leu251Ser) c.740T>C (p.Leu247Ser) | |
12 | g.21563009A>T | CA384133050 | GYS2 | c.971T>A (p.Leu324Ter) c.*973T>A (n.*973T>A) n.898T>A c.752T>A (p.Leu251Ter) c.740T>A (p.Leu247Ter) | |
12 | g.21563010A= | CA2021178901 | GYS2 | c.970T= (p.Leu324=) c.*972T= (n.*972T=) n.897T= c.751T= (p.Leu251=) c.739T= (p.Leu247=) | |
12 | g.21563010A>C | CA6480029 | GYS2 | c.970T>G (p.Leu324Val) c.*972T>G (n.*972T>G) n.897T>G c.751T>G (p.Leu251Val) c.739T>G (p.Leu247Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21563010A>G | CA478869540 | GYS2 | c.970T>C (p.Leu324=) c.*972T>C (n.*972T>C) n.897T>C c.751T>C (p.Leu251=) c.739T>C (p.Leu247=) | |
12 | g.21563010A>T | CA384133055 | GYS2 | c.970T>A (p.Leu324Met) c.*972T>A (n.*972T>A) n.897T>A c.751T>A (p.Leu251Met) c.739T>A (p.Leu247Met) | |
12 | g.21563011A= | CA2021178903 | GYS2 | c.969T= (p.Thr323=) c.*971T= (n.*971T=) n.896T= c.750T= (p.Thr250=) c.738T= (p.Thr246=) | |
12 | g.21563011A>C | CA478869541 | GYS2 | c.969T>G (p.Thr323=) c.*971T>G (n.*971T>G) n.896T>G c.750T>G (p.Thr250=) c.738T>G (p.Thr246=) | |
12 | g.21563011A>G | CA478869542 | GYS2 | c.969T>C (p.Thr323=) c.*971T>C (n.*971T>C) n.896T>C c.750T>C (p.Thr250=) c.738T>C (p.Thr246=) | dbSNP gnomAD v4 |
12 | g.21563011A>T | CA478869543 | GYS2 | c.969T>A (p.Thr323=) c.*971T>A (n.*971T>A) n.896T>A c.750T>A (p.Thr250=) c.738T>A (p.Thr246=) | |
12 | g.21563012G>A | CA6480030 | GYS2 | c.968C>T (p.Thr323Ile) c.*970C>T (n.*970C>T) n.895C>T c.749C>T (p.Thr250Ile) c.737C>T (p.Thr246Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21563012G>C | CA384133072 | GYS2 | c.968C>G (p.Thr323Ser) c.*970C>G (n.*970C>G) n.895C>G c.749C>G (p.Thr250Ser) c.737C>G (p.Thr246Ser) | |
12 | g.21563012G= | CA2021178908 | GYS2 | c.968C= (p.Thr323=) c.*970C= (n.*970C=) n.895C= c.749C= (p.Thr250=) c.737C= (p.Thr246=) | |
12 | g.21563012G>T | CA384133059 | GYS2 | c.968C>A (p.Thr323Asn) c.*970C>A (n.*970C>A) n.895C>A c.749C>A (p.Thr250Asn) c.737C>A (p.Thr246Asn) | |
12 | g.21563012_21563013delinsGT | CA2021178906 | GYS2 | c.967_968delinsAC (p.Thr323=) c.*969_*970delinsAC (n.*969_*970delinsAC) n.894_895delinsAC c.748_749delinsAC (p.Thr250=) c.736_737delinsAC (p.Thr246=) | |
12 | g.21563013del | CA6480031 | GYS2 | c.967del (p.Thr323LeufsTer21) c.*969del (n.*969del) n.894del c.748del (p.Thr250LeufsTer21) c.736del (p.Thr246LeufsTer21) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563013T>A | CA384133082 | GYS2 | c.967A>T (p.Thr323Ser) c.*969A>T (n.*969A>T) n.894A>T c.748A>T (p.Thr250Ser) c.736A>T (p.Thr246Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21563013T>C | CA6480032 | GYS2 | c.967A>G (p.Thr323Ala) c.*969A>G (n.*969A>G) n.894A>G c.748A>G (p.Thr250Ala) c.736A>G (p.Thr246Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21563013T>G | CA384133083 | GYS2 | c.967A>C (p.Thr323Pro) c.*969A>C (n.*969A>C) n.894A>C c.748A>C (p.Thr250Pro) c.736A>C (p.Thr246Pro) | gnomAD v4 |
12 | g.21563013T= | CA2021178917 | GYS2 | c.967A= (p.Thr323=) c.*969A= (n.*969A=) n.894A= c.748A= (p.Thr250=) c.736A= (p.Thr246=) | |
12 | g.21563013_21563014delinsG | CA2695196495 | GYS2 | c.966_967delinsC (p.Lys322AsnfsTer22) c.*968_*969delinsC (n.*968_*969delinsC) n.893_894delinsC c.747_748delinsC (p.Lys249AsnfsTer22) c.735_736delinsC (p.Lys245AsnfsTer22) | |
12 | g.21563014C>A | CA384133084 | GYS2 | c.966G>T (p.Lys322Asn) c.*968G>T (n.*968G>T) n.893G>T c.747G>T (p.Lys249Asn) c.735G>T (p.Lys245Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.21563014C= | CA2021178922 | GYS2 | c.966G= (p.Lys322=) c.*968G= (n.*968G=) n.893G= c.747G= (p.Lys249=) c.735G= (p.Lys245=) | |
12 | g.21563014C>G | CA6480033 | GYS2 | c.966G>C (p.Lys322Asn) c.*968G>C (n.*968G>C) n.893G>C c.747G>C (p.Lys249Asn) c.735G>C (p.Lys245Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563014C>T | CA478869545 | GYS2 | c.966G>A (p.Lys322=) c.*968G>A (n.*968G>A) n.893G>A c.747G>A (p.Lys249=) c.735G>A (p.Lys245=) | |
12 | g.21563015T>A | CA384133093 | GYS2 | c.965A>T (p.Lys322Met) c.*967A>T (n.*967A>T) n.892A>T c.746A>T (p.Lys249Met) c.734A>T (p.Lys245Met) | |
12 | g.21563015T>C | CA384133095 | GYS2 | c.965A>G (p.Lys322Arg) c.*967A>G (n.*967A>G) n.892A>G c.746A>G (p.Lys249Arg) c.734A>G (p.Lys245Arg) | gnomAD v4 |
12 | g.21563015T>G | CA384133096 | GYS2 | c.965A>C (p.Lys322Thr) c.*967A>C (n.*967A>C) n.892A>C c.746A>C (p.Lys249Thr) c.734A>C (p.Lys245Thr) | dbSNP |
12 | g.21563015T= | CA2021178930 | GYS2 | c.965A= (p.Lys322=) c.*967A= (n.*967A=) n.892A= c.746A= (p.Lys249=) c.734A= (p.Lys245=) | |
12 | g.21563016T>A | CA384133098 | GYS2 | c.964A>T (p.Lys322Ter) c.*966A>T (n.*966A>T) n.891A>T c.745A>T (p.Lys249Ter) c.733A>T (p.Lys245Ter) | |
12 | g.21563016T>C | CA384133105 | GYS2 | c.964A>G (p.Lys322Glu) c.*966A>G (n.*966A>G) n.891A>G c.745A>G (p.Lys249Glu) c.733A>G (p.Lys245Glu) | |
12 | g.21563016T>G | CA384133110 | GYS2 | c.964A>C (p.Lys322Gln) c.*966A>C (n.*966A>C) n.891A>C c.745A>C (p.Lys249Gln) c.733A>C (p.Lys245Gln) | |
12 | g.21563017T>A | CA384133114 | GYS2 | c.963A>T (p.Glu321Asp) c.*965A>T (n.*965A>T) n.890A>T c.744A>T (p.Glu248Asp) c.732A>T (p.Glu244Asp) | |
12 | g.21563017T>C | CA478869546 | GYS2 | c.963A>G (p.Glu321=) c.*965A>G (n.*965A>G) n.890A>G c.744A>G (p.Glu248=) c.732A>G (p.Glu244=) | |
12 | g.21563017T>G | CA384133119 | GYS2 | c.963A>C (p.Glu321Asp) c.*965A>C (n.*965A>C) n.890A>C c.744A>C (p.Glu248Asp) c.732A>C (p.Glu244Asp) | |
12 | g.21563018T>A | CA384133123 | GYS2 | c.962A>T (p.Glu321Val) c.*964A>T (n.*964A>T) n.889A>T c.743A>T (p.Glu248Val) c.731A>T (p.Glu244Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21563018T>C | CA384133124 | GYS2 | c.962A>G (p.Glu321Gly) c.*964A>G (n.*964A>G) n.889A>G c.743A>G (p.Glu248Gly) c.731A>G (p.Glu244Gly) | |
12 | g.21563018T>G | CA384133126 | GYS2 | c.962A>C (p.Glu321Ala) c.*964A>C (n.*964A>C) n.889A>C c.743A>C (p.Glu248Ala) c.731A>C (p.Glu244Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21563018T= | CA2021178935 | GYS2 | c.962A= (p.Glu321=) c.*964A= (n.*964A=) n.889A= c.743A= (p.Glu248=) c.731A= (p.Glu244=) | |
12 | g.21563019C>A | CA384133136 | GYS2 | c.961G>T (p.Glu321Ter) c.*963G>T (n.*963G>T) n.888G>T c.742G>T (p.Glu248Ter) c.730G>T (p.Glu244Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563019C= | CA2021178939 | GYS2 | c.961G= (p.Glu321=) c.*963G= (n.*963G=) n.888G= c.742G= (p.Glu248=) c.730G= (p.Glu244=) | |
12 | g.21563019C>G | CA384133132 | GYS2 | c.961G>C (p.Glu321Gln) c.*963G>C (n.*963G>C) n.888G>C c.742G>C (p.Glu248Gln) c.730G>C (p.Glu244Gln) | |
12 | g.21563019C>T | CA384133135 | GYS2 | c.961G>A (p.Glu321Lys) c.*963G>A (n.*963G>A) n.888G>A c.742G>A (p.Glu248Lys) c.730G>A (p.Glu244Lys) | COSMIC |
12 | g.21563020A>C | CA478869547 | GYS2 | c.960T>G (p.Leu320=) c.*962T>G (n.*962T>G) n.887T>G c.741T>G (p.Leu247=) c.729T>G (p.Leu243=) | |
12 | g.21563020A>G | CA478869548 | GYS2 | c.960T>C (p.Leu320=) c.*962T>C (n.*962T>C) n.887T>C c.741T>C (p.Leu247=) c.729T>C (p.Leu243=) | |
12 | g.21563020A>T | CA478869549 | GYS2 | c.960T>A (p.Leu320=) c.*962T>A (n.*962T>A) n.887T>A c.741T>A (p.Leu247=) c.729T>A (p.Leu243=) | |
12 | g.21563021A>C | CA384133140 | GYS2 | c.959T>G (p.Leu320Arg) c.*961T>G (n.*961T>G) n.886T>G c.740T>G (p.Leu247Arg) c.728T>G (p.Leu243Arg) | |
12 | g.21563021A>G | CA384133143 | GYS2 | c.959T>C (p.Leu320Pro) c.*961T>C (n.*961T>C) n.886T>C c.740T>C (p.Leu247Pro) c.728T>C (p.Leu243Pro) | |
12 | g.21563021A>T | CA384133144 | GYS2 | c.959T>A (p.Leu320His) c.*961T>A (n.*961T>A) n.886T>A c.740T>A (p.Leu247His) c.728T>A (p.Leu243His) | |
12 | g.21563022G>A | CA384133145 | GYS2 | c.958C>T (p.Leu320Phe) c.*960C>T (n.*960C>T) n.885C>T c.739C>T (p.Leu247Phe) c.727C>T (p.Leu243Phe) | |
12 | g.21563022G>C | CA384133147 | GYS2 | c.958C>G (p.Leu320Val) c.*960C>G (n.*960C>G) n.885C>G c.739C>G (p.Leu247Val) c.727C>G (p.Leu243Val) | gnomAD v4 |
12 | g.21563022G>T | CA384133149 | GYS2 | c.958C>A (p.Leu320Ile) c.*960C>A (n.*960C>A) n.885C>A c.739C>A (p.Leu247Ile) c.727C>A (p.Leu243Ile) | |
12 | g.21563023A>C | CA384133151 | GYS2 | c.957T>G (p.Asp319Glu) c.*959T>G (n.*959T>G) n.884T>G c.738T>G (p.Asp246Glu) c.726T>G (p.Asp242Glu) | |
12 | g.21563023A>G | CA478869552 | GYS2 | c.957T>C (p.Asp319=) c.*959T>C (n.*959T>C) n.884T>C c.738T>C (p.Asp246=) c.726T>C (p.Asp242=) | |
12 | g.21563023A>T | CA384133152 | GYS2 | c.957T>A (p.Asp319Glu) c.*959T>A (n.*959T>A) n.884T>A c.738T>A (p.Asp246Glu) c.726T>A (p.Asp242Glu) | |
12 | g.21563024T>A | CA16603182 | GYS2 | c.956A>T (p.Asp319Val) c.*958A>T (n.*958A>T) n.883A>T c.737A>T (p.Asp246Val) c.725A>T (p.Asp242Val) | ClinVar dbSNP |
12 | g.21563024T>C | CA384133154 | GYS2 | c.956A>G (p.Asp319Gly) c.*958A>G (n.*958A>G) n.883A>G c.737A>G (p.Asp246Gly) c.725A>G (p.Asp242Gly) | |
12 | g.21563024T>G | CA384133160 | GYS2 | c.956A>C (p.Asp319Ala) c.*958A>C (n.*958A>C) n.883A>C c.737A>C (p.Asp246Ala) c.725A>C (p.Asp242Ala) | gnomAD v4 |
12 | g.21563024T= | CA2021178943 | GYS2 | c.956A= (p.Asp319=) c.*958A= (n.*958A=) n.883A= c.737A= (p.Asp246=) c.725A= (p.Asp242=) | |
12 | g.21563025C>A | CA384133166 | GYS2 | c.955G>T (p.Asp319Tyr) c.*957G>T (n.*957G>T) n.882G>T c.736G>T (p.Asp246Tyr) c.724G>T (p.Asp242Tyr) | |
12 | g.21563025C>G | CA384133168 | GYS2 | c.955G>C (p.Asp319His) c.*957G>C (n.*957G>C) n.882G>C c.736G>C (p.Asp246His) c.724G>C (p.Asp242His) | |
12 | g.21563025C>T | CA384133164 | GYS2 | c.955G>A (p.Asp319Asn) c.*957G>A (n.*957G>A) n.882G>A c.736G>A (p.Asp246Asn) c.724G>A (p.Asp242Asn) | |
12 | g.21563026A>C | CA384133171 | GYS2 | c.954T>G (p.Phe318Leu) c.*956T>G (n.*956T>G) n.881T>G c.735T>G (p.Phe245Leu) c.723T>G (p.Phe241Leu) | |
12 | g.21563026A>G | CA478869555 | GYS2 | c.954T>C (p.Phe318=) c.*956T>C (n.*956T>C) n.881T>C c.735T>C (p.Phe245=) c.723T>C (p.Phe241=) | |
12 | g.21563026A>T | CA384133174 | GYS2 | c.954T>A (p.Phe318Leu) c.*956T>A (n.*956T>A) n.881T>A c.735T>A (p.Phe245Leu) c.723T>A (p.Phe241Leu) | |
12 | g.21563027A>C | CA384133175 | GYS2 | c.953T>G (p.Phe318Cys) c.*955T>G (n.*955T>G) n.880T>G c.734T>G (p.Phe245Cys) c.722T>G (p.Phe241Cys) | |
12 | g.21563027A>G | CA384133177 | GYS2 | c.953T>C (p.Phe318Ser) c.*955T>C (n.*955T>C) n.880T>C c.734T>C (p.Phe245Ser) c.722T>C (p.Phe241Ser) | |
12 | g.21563027A>T | CA384133180 | GYS2 | c.953T>A (p.Phe318Tyr) c.*955T>A (n.*955T>A) n.880T>A c.734T>A (p.Phe245Tyr) c.722T>A (p.Phe241Tyr) | |
12 | g.21563028A>C | CA384133196 | GYS2 | c.952T>G (p.Phe318Val) c.*954T>G (n.*954T>G) n.879T>G c.733T>G (p.Phe245Val) c.721T>G (p.Phe241Val) | |
12 | g.21563028A>G | CA384133199 | GYS2 | c.952T>C (p.Phe318Leu) c.*954T>C (n.*954T>C) n.879T>C c.733T>C (p.Phe245Leu) c.721T>C (p.Phe241Leu) | |
12 | g.21563028A>T | CA384133200 | GYS2 | c.952T>A (p.Phe318Ile) c.*954T>A (n.*954T>A) n.879T>A c.733T>A (p.Phe245Ile) c.721T>A (p.Phe241Ile) | |
12 | g.21563029G>A | CA478869557 | GYS2 | c.951C>T (p.Asp317=) c.*953C>T (n.*953C>T) n.878C>T c.732C>T (p.Asp244=) c.720C>T (p.Asp240=) | |
12 | g.21563029G>C | CA384133203 | GYS2 | c.951C>G (p.Asp317Glu) c.*953C>G (n.*953C>G) n.878C>G c.732C>G (p.Asp244Glu) c.720C>G (p.Asp240Glu) | |
12 | g.21563029G>T | CA384133205 | GYS2 | c.951C>A (p.Asp317Glu) c.*953C>A (n.*953C>A) n.878C>A c.732C>A (p.Asp244Glu) c.720C>A (p.Asp240Glu) | |
12 | g.21563030T>A | CA384133208 | GYS2 | c.950A>T (p.Asp317Val) c.*952A>T (n.*952A>T) n.877A>T c.731A>T (p.Asp244Val) c.719A>T (p.Asp240Val) | |
12 | g.21563030T>C | CA384133213 | GYS2 | c.950A>G (p.Asp317Gly) c.*952A>G (n.*952A>G) n.877A>G c.731A>G (p.Asp244Gly) c.719A>G (p.Asp240Gly) | gnomAD v4 |
12 | g.21563030T>G | CA384133214 | GYS2 | c.950A>C (p.Asp317Ala) c.*952A>C (n.*952A>C) n.877A>C c.731A>C (p.Asp244Ala) c.719A>C (p.Asp240Ala) | gnomAD v4 |
12 | g.21563031C>A | CA384133224 | GYS2 | c.949G>T (p.Asp317Tyr) c.*951G>T (n.*951G>T) n.876G>T c.730G>T (p.Asp244Tyr) c.718G>T (p.Asp240Tyr) | gnomAD v4 |
12 | g.21563031C= | CA2021178949 | GYS2 | c.949G= (p.Asp317=) c.*951G= (n.*951G=) n.876G= c.730G= (p.Asp244=) c.718G= (p.Asp240=) | |
12 | g.21563031C>G | CA384133219 | GYS2 | c.949G>C (p.Asp317His) c.*951G>C (n.*951G>C) n.876G>C c.730G>C (p.Asp244His) c.718G>C (p.Asp240His) | |
12 | g.21563031C>T | CA6480034 | GYS2 | c.949G>A (p.Asp317Asn) c.*951G>A (n.*951G>A) n.876G>A c.730G>A (p.Asp244Asn) c.718G>A (p.Asp240Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563031_21563032delinsCG | CA2021178951 | GYS2 | c.948_949delinsCG (p.Leu316=) c.*950_*951delinsCG (n.*950_*951delinsCG) n.875_876delinsCG c.729_730delinsCG (p.Leu243=) c.717_718delinsCG (p.Leu239=) | |
12 | g.21563032del | CA603675579 | GYS2 | c.948del (p.Asp317ThrfsTer27) c.*950del (n.*950del) n.875del c.729del (p.Asp244ThrfsTer27) c.717del (p.Asp240ThrfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21563032G>A | CA6480035 | GYS2 | c.948C>T (p.Leu316=) c.*950C>T (n.*950C>T) n.875C>T c.729C>T (p.Leu243=) c.717C>T (p.Leu239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563032G>C | CA478869560 | GYS2 | c.948C>G (p.Leu316=) c.*950C>G (n.*950C>G) n.875C>G c.729C>G (p.Leu243=) c.717C>G (p.Leu239=) | |
12 | g.21563032G= | CA2021178957 | GYS2 | c.948C= (p.Leu316=) c.*950C= (n.*950C=) n.875C= c.729C= (p.Leu243=) c.717C= (p.Leu239=) | |
12 | g.21563032G>T | CA478869561 | GYS2 | c.948C>A (p.Leu316=) c.*950C>A (n.*950C>A) n.875C>A c.729C>A (p.Leu243=) c.717C>A (p.Leu239=) | gnomAD v4 |
12 | g.21563033A= | CA2021178962 | GYS2 | c.947T= (p.Leu316=) c.*949T= (n.*949T=) n.874T= c.728T= (p.Leu243=) c.716T= (p.Leu239=) | |
12 | g.21563033A>C | CA384133232 | GYS2 | c.947T>G (p.Leu316Arg) c.*949T>G (n.*949T>G) n.874T>G c.728T>G (p.Leu243Arg) c.716T>G (p.Leu239Arg) | |
12 | g.21563033A>G | CA384133237 | GYS2 | c.947T>C (p.Leu316Pro) c.*949T>C (n.*949T>C) n.874T>C c.728T>C (p.Leu243Pro) c.716T>C (p.Leu239Pro) | dbSNP gnomAD v4 |
12 | g.21563033A>T | CA384133239 | GYS2 | c.947T>A (p.Leu316His) c.*949T>A (n.*949T>A) n.874T>A c.728T>A (p.Leu243His) c.716T>A (p.Leu239His) | |
12 | g.21563034G>A | CA384133241 | GYS2 | c.946C>T (p.Leu316Phe) c.*948C>T (n.*948C>T) n.873C>T c.727C>T (p.Leu243Phe) c.715C>T (p.Leu239Phe) | gnomAD v4 |
12 | g.21563034G>C | CA384133247 | GYS2 | c.946C>G (p.Leu316Val) c.*948C>G (n.*948C>G) n.873C>G c.727C>G (p.Leu243Val) c.715C>G (p.Leu239Val) | |
12 | g.21563034G>T | CA384133253 | GYS2 | c.946C>A (p.Leu316Ile) c.*948C>A (n.*948C>A) n.873C>A c.727C>A (p.Leu243Ile) c.715C>A (p.Leu239Ile) | gnomAD v4 |
12 | g.21563035A>C | CA384133257 | GYS2 | c.945T>G (p.His315Gln) c.*947T>G (n.*947T>G) n.872T>G c.726T>G (p.His242Gln) c.714T>G (p.His238Gln) | |
12 | g.21563035A>G | CA478869562 | GYS2 | c.945T>C (p.His315=) c.*947T>C (n.*947T>C) n.872T>C c.726T>C (p.His242=) c.714T>C (p.His238=) | |
12 | g.21563035A>T | CA384133258 | GYS2 | c.945T>A (p.His315Gln) c.*947T>A (n.*947T>A) n.872T>A c.726T>A (p.His242Gln) c.714T>A (p.His238Gln) | |
12 | g.21563036T>A | CA384133259 | GYS2 | c.944A>T (p.His315Leu) c.*946A>T (n.*946A>T) n.871A>T c.725A>T (p.His242Leu) c.713A>T (p.His238Leu) | |
12 | g.21563036T>C | CA384133260 | GYS2 | c.944A>G (p.His315Arg) c.*946A>G (n.*946A>G) n.871A>G c.725A>G (p.His242Arg) c.713A>G (p.His238Arg) | gnomAD v4 |
12 | g.21563036T>G | CA384133262 | GYS2 | c.944A>C (p.His315Pro) c.*946A>C (n.*946A>C) n.871A>C c.725A>C (p.His242Pro) c.713A>C (p.His238Pro) | |
12 | g.21563037G>A | CA384133280 | GYS2 | c.943C>T (p.His315Tyr) c.*945C>T (n.*945C>T) n.870C>T c.724C>T (p.His242Tyr) c.712C>T (p.His238Tyr) | |
12 | g.21563037G>C | CA384133269 | GYS2 | c.943C>G (p.His315Asp) c.*945C>G (n.*945C>G) n.870C>G c.724C>G (p.His242Asp) c.712C>G (p.His238Asp) | |
12 | g.21563037G>T | CA384133265 | GYS2 | c.943C>A (p.His315Asn) c.*945C>A (n.*945C>A) n.870C>A c.724C>A (p.His242Asn) c.712C>A (p.His238Asn) | gnomAD v4 |
12 | g.21563038A>C | CA478869564 | GYS2 | c.942T>G (p.Gly314=) c.*944T>G (n.*944T>G) n.869T>G c.723T>G (p.Gly241=) c.711T>G (p.Gly237=) | |
12 | g.21563038A>G | CA478869565 | GYS2 | c.942T>C (p.Gly314=) c.*944T>C (n.*944T>C) n.869T>C c.723T>C (p.Gly241=) c.711T>C (p.Gly237=) | gnomAD v4 |
12 | g.21563038A>T | CA478869566 | GYS2 | c.942T>A (p.Gly314=) c.*944T>A (n.*944T>A) n.869T>A c.723T>A (p.Gly241=) c.711T>A (p.Gly237=) | gnomAD v4 |
12 | g.21563039C>A | CA384133281 | GYS2 | c.942-1G>T (n.942-1G>T) c.*944-1G>T (n.*944-1G>T) n.869-1G>T c.723-1G>T (n.723-1G>T) c.711-1G>T (n.711-1G>T) | |
12 | g.21563039C>G | CA384133286 | GYS2 | c.942-1G>C (n.942-1G>C) c.*944-1G>C (n.*944-1G>C) n.869-1G>C c.723-1G>C (n.723-1G>C) c.711-1G>C (n.711-1G>C) | |
12 | g.21563039C>T | CA384133283 | GYS2 | c.942-1G>A (n.942-1G>A) c.*944-1G>A (n.*944-1G>A) n.869-1G>A c.723-1G>A (n.723-1G>A) c.711-1G>A (n.711-1G>A) | |
12 | g.21563040T>A | CA6480036 | GYS2 | c.942-2A>T (n.942-2A>T) c.*944-2A>T (n.*944-2A>T) n.869-2A>T c.723-2A>T (n.723-2A>T) c.711-2A>T (n.711-2A>T) | dbSNP ExAC gnomAD v4 |
12 | g.21563040T>C | CA384133293 | GYS2 | c.942-2A>G (n.942-2A>G) c.*944-2A>G (n.*944-2A>G) n.869-2A>G c.723-2A>G (n.723-2A>G) c.711-2A>G (n.711-2A>G) | ClinVar dbSNP gnomAD v4 |
12 | g.21563040T>G | CA384133295 | GYS2 | c.942-2A>C (n.942-2A>C) c.*944-2A>C (n.*944-2A>C) n.869-2A>C c.723-2A>C (n.723-2A>C) c.711-2A>C (n.711-2A>C) | |
12 | g.21563040T= | CA2021178966 | GYS2 | c.942-2A= (n.942-2A=) c.*944-2A= (n.*944-2A=) n.869-2A= c.723-2A= (n.723-2A=) c.711-2A= (n.711-2A=) | |
12 | g.21563040_21563045delinsTAAAAC | CA2021178965 | GYS2 | c.942-7_942-2delinsGTTTTA (n.942-7_942-2delinsGTTTTA) c.*944-7_*944-2delinsGTTTTA (n.*944-7_*944-2delinsGTTTTA) n.869-7_869-2delinsGTTTTA c.723-7_723-2delinsGTTTTA (n.723-7_723-2delinsGTTTTA) c.711-7_711-2delinsGTTTTA (n.711-7_711-2delinsGTTTTA) | |
12 | g.21563041_21563044dup | CA603675592 | GYS2 | c.942-6_942-3dup (n.942-6_942-3dup) c.*944-6_*944-3dup (n.*944-6_*944-3dup) n.869-6_869-3dup c.723-6_723-3dup (n.723-6_723-3dup) c.711-6_711-3dup (n.711-6_711-3dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563051_21563055dup | CA2575098464 | GYS2 | c.942-7_942-3dup (n.942-7_942-3dup) c.*944-7_*944-3dup (n.*944-7_*944-3dup) n.869-7_869-3dup c.723-7_723-3dup (n.723-7_723-3dup) c.711-7_711-3dup (n.711-7_711-3dup) | gnomAD v4 |
12 | g.21563051_21563055del | CA603675591 | GYS2 | c.942-7_942-3del (n.942-7_942-3del) c.*944-7_*944-3del (n.*944-7_*944-3del) n.869-7_869-3del c.723-7_723-3del (n.723-7_723-3del) c.711-7_711-3del (n.711-7_711-3del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21563044A= | CA2021178976 | GYS2 | c.942-6T= (n.942-6T=) c.*944-6T= (n.*944-6T=) n.869-6T= c.723-6T= (n.723-6T=) c.711-6T= (n.711-6T=) | |
12 | g.21563044A>C | CA2794810051 | GYS2 | c.942-6T>G (n.942-6T>G) c.*944-6T>G (n.*944-6T>G) n.869-6T>G c.723-6T>G (n.723-6T>G) c.711-6T>G (n.711-6T>G) | |
12 | g.21563044A>G | CA10637035 | GYS2 | c.942-6T>C (n.942-6T>C) c.*944-6T>C (n.*944-6T>C) n.869-6T>C c.723-6T>C (n.723-6T>C) c.711-6T>C (n.711-6T>C) | ClinVar dbSNP |
12 | g.21563044_21563045delinsAC | CA2021178975 | GYS2 | c.942-7_942-6delinsGT (n.942-7_942-6delinsGT) c.*944-7_*944-6delinsGT (n.*944-7_*944-6delinsGT) n.869-7_869-6delinsGT c.723-7_723-6delinsGT (n.723-7_723-6delinsGT) c.711-7_711-6delinsGT (n.711-7_711-6delinsGT) | |
12 | g.21563045del | CA6480037 | GYS2 | c.942-7del (n.942-7del) c.*944-7del (n.*944-7del) n.869-7del c.723-7del (n.723-7del) c.711-7del (n.711-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563045C>G | CA2617923608 | GYS2 | c.942-7G>C (n.942-7G>C) c.*944-7G>C (n.*944-7G>C) n.869-7G>C c.723-7G>C (n.723-7G>C) c.711-7G>C (n.711-7G>C) | gnomAD v4 |
12 | g.21563047A>T | CA2617923609 | GYS2 | c.942-9T>A (n.942-9T>A) c.*944-9T>A (n.*944-9T>A) n.869-9T>A c.723-9T>A (n.723-9T>A) c.711-9T>A (n.711-9T>A) | gnomAD v4 |
12 | g.21563050C= | CA2021178986 | GYS2 | c.942-12G= (n.942-12G=) c.*944-12G= (n.*944-12G=) n.869-12G= c.723-12G= (n.723-12G=) c.711-12G= (n.711-12G=) | |
12 | g.21563050C>T | CA6480038 | GYS2 | c.942-12G>A (n.942-12G>A) c.*944-12G>A (n.*944-12G>A) n.869-12G>A c.723-12G>A (n.723-12G>A) c.711-12G>A (n.711-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563051A= | CA2021178988 | GYS2 | c.942-13T= (n.942-13T=) c.*944-13T= (n.*944-13T=) n.869-13T= c.723-13T= (n.723-13T=) c.711-13T= (n.711-13T=) | |
12 | g.21563051A>C | CA6480039 | GYS2 | c.942-13T>G (n.942-13T>G) c.*944-13T>G (n.*944-13T>G) n.869-13T>G c.723-13T>G (n.723-13T>G) c.711-13T>G (n.711-13T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563056_21563060dup | CA6480040 | GYS2 | c.942-18_942-14dup (n.942-18_942-14dup) c.*944-18_*944-14dup (n.*944-18_*944-14dup) n.869-18_869-14dup c.723-18_723-14dup (n.723-18_723-14dup) c.711-18_711-14dup (n.711-18_711-14dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.21563055C>A | CA2581075694 | GYS2 | c.942-17G>T (n.942-17G>T) c.*944-17G>T (n.*944-17G>T) n.869-17G>T c.723-17G>T (n.723-17G>T) c.711-17G>T (n.711-17G>T) | gnomAD v4 |
12 | g.21563055C= | CA2021178993 | GYS2 | c.942-17G= (n.942-17G=) c.*944-17G= (n.*944-17G=) n.869-17G= c.723-17G= (n.723-17G=) c.711-17G= (n.711-17G=) | |
12 | g.21563055C>G | CA2581075693 | GYS2 | c.942-17G>C (n.942-17G>C) c.*944-17G>C (n.*944-17G>C) n.869-17G>C c.723-17G>C (n.723-17G>C) c.711-17G>C (n.711-17G>C) | |
12 | g.21563055C>T | CA6480041 | GYS2 | c.942-17G>A (n.942-17G>A) c.*944-17G>A (n.*944-17G>A) n.869-17G>A c.723-17G>A (n.723-17G>A) c.711-17G>A (n.711-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563056del | CA2617923610 | GYS2 | c.942-17del (n.942-17del) c.*944-17del (n.*944-17del) n.869-17del c.723-17del (n.723-17del) c.711-17del (n.711-17del) | gnomAD v4 |
12 | g.21563055_21563059delinsCCAAA | CA2021178995 | GYS2 | c.942-21_942-17delinsTTTGG (n.942-21_942-17delinsTTTGG) c.*944-21_*944-17delinsTTTGG (n.*944-21_*944-17delinsTTTGG) n.869-21_869-17delinsTTTGG c.723-21_723-17delinsTTTGG (n.723-21_723-17delinsTTTGG) c.711-21_711-17delinsTTTGG (n.711-21_711-17delinsTTTGG) | |
12 | g.21563056C>A | CA6480042 | GYS2 | c.942-18G>T (n.942-18G>T) c.*944-18G>T (n.*944-18G>T) n.869-18G>T c.723-18G>T (n.723-18G>T) c.711-18G>T (n.711-18G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563056C= | CA2021178999 | GYS2 | c.942-18G= (n.942-18G=) c.*944-18G= (n.*944-18G=) n.869-18G= c.723-18G= (n.723-18G=) c.711-18G= (n.711-18G=) | |
12 | g.21563056C>G | CA686414634 | GYS2 | c.942-18G>C (n.942-18G>C) c.*944-18G>C (n.*944-18G>C) n.869-18G>C c.723-18G>C (n.723-18G>C) c.711-18G>C (n.711-18G>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21563058_21563061del | CA2021179000 | GYS2 | c.942-21_942-18del (n.942-21_942-18del) c.*944-21_*944-18del (n.*944-21_*944-18del) n.869-21_869-18del c.723-21_723-18del (n.723-21_723-18del) c.711-21_711-18del (n.711-21_711-18del) | dbSNP gnomAD v4 |
12 | g.21563057A= | CA2021179002 | GYS2 | c.942-19T= (n.942-19T=) c.*944-19T= (n.*944-19T=) n.869-19T= c.723-19T= (n.723-19T=) c.711-19T= (n.711-19T=) | |
12 | g.21563057A>C | CA2575098465 | GYS2 | c.942-19T>G (n.942-19T>G) c.*944-19T>G (n.*944-19T>G) n.869-19T>G c.723-19T>G (n.723-19T>G) c.711-19T>G (n.711-19T>G) | |
12 | g.21563057A>G | CA6480043 | GYS2 | c.942-19T>C (n.942-19T>C) c.*944-19T>C (n.*944-19T>C) n.869-19T>C c.723-19T>C (n.723-19T>C) c.711-19T>C (n.711-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.21563059del | CA2617923611 | GYS2 | c.942-19del (n.942-19del) c.*944-19del (n.*944-19del) n.869-19del c.723-19del (n.723-19del) c.711-19del (n.711-19del) | gnomAD v4 |
12 | g.21563058A= | CA2021179003 | GYS2 | c.942-20T= (n.942-20T=) c.*944-20T= (n.*944-20T=) n.869-20T= c.723-20T= (n.723-20T=) c.711-20T= (n.711-20T=) | |
12 | g.21563058A>C | CA2617923612 | GYS2 | c.942-20T>G (n.942-20T>G) c.*944-20T>G (n.*944-20T>G) n.869-20T>G c.723-20T>G (n.723-20T>G) c.711-20T>G (n.711-20T>G) | gnomAD v4 |
12 | g.21563058A>G | CA2617923613 | GYS2 | c.942-20T>C (n.942-20T>C) c.*944-20T>C (n.*944-20T>C) n.869-20T>C c.723-20T>C (n.723-20T>C) c.711-20T>C (n.711-20T>C) | gnomAD v4 |
12 | g.21563058A>T | CA2021179004 | GYS2 | c.942-20T>A (n.942-20T>A) c.*944-20T>A (n.*944-20T>A) n.869-20T>A c.723-20T>A (n.723-20T>A) c.711-20T>A (n.711-20T>A) | dbSNP gnomAD v4 |
12 | g.21563059A= | CA2021179007 | GYS2 | c.942-21T= (n.942-21T=) c.*944-21T= (n.*944-21T=) n.869-21T= c.723-21T= (n.723-21T=) c.711-21T= (n.711-21T=) | |
12 | g.21563059A>C | CA2617923614 | GYS2 | c.942-21T>G (n.942-21T>G) c.*944-21T>G (n.*944-21T>G) n.869-21T>G c.723-21T>G (n.723-21T>G) c.711-21T>G (n.711-21T>G) | dbSNP gnomAD v4 |
12 | g.21563059A>G | CA945500421 | GYS2 | c.942-21T>C (n.942-21T>C) c.*944-21T>C (n.*944-21T>C) n.869-21T>C c.723-21T>C (n.723-21T>C) c.711-21T>C (n.711-21T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.21563060C>T | CA2617923615 | GYS2 | c.942-22G>A (n.942-22G>A) c.*944-22G>A (n.*944-22G>A) n.869-22G>A c.723-22G>A (n.723-22G>A) c.711-22G>A (n.711-22G>A) | gnomAD v4 |
12 | g.21563061A= | CA2021179011 | GYS2 | c.942-23T= (n.942-23T=) c.*944-23T= (n.*944-23T=) n.869-23T= c.723-23T= (n.723-23T=) c.711-23T= (n.711-23T=) | |
12 | g.21563061A>G | CA2021179010 | GYS2 | c.942-23T>C (n.942-23T>C) c.*944-23T>C (n.*944-23T>C) n.869-23T>C c.723-23T>C (n.723-23T>C) c.711-23T>C (n.711-23T>C) | dbSNP gnomAD v4 |
12 | g.21563061_21563062delinsAG | CA2021179008 | GYS2 | c.942-24_942-23delinsCT (n.942-24_942-23delinsCT) c.*944-24_*944-23delinsCT (n.*944-24_*944-23delinsCT) n.869-24_869-23delinsCT c.723-24_723-23delinsCT (n.723-24_723-23delinsCT) c.711-24_711-23delinsCT (n.711-24_711-23delinsCT) | |
12 | g.21563062del | CA603675617 | GYS2 | c.942-24del (n.942-24del) c.*944-24del (n.*944-24del) n.869-24del c.723-24del (n.723-24del) c.711-24del (n.711-24del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21563062G>A | CA2617923616 | GYS2 | c.942-24C>T (n.942-24C>T) c.*944-24C>T (n.*944-24C>T) n.869-24C>T c.723-24C>T (n.723-24C>T) c.711-24C>T (n.711-24C>T) | gnomAD v4 |
12 | g.21563062G>T | CA2617923617 | GYS2 | c.942-24C>A (n.942-24C>A) c.*944-24C>A (n.*944-24C>A) n.869-24C>A c.723-24C>A (n.723-24C>A) c.711-24C>A (n.711-24C>A) | gnomAD v4 |
12 | g.21563065T>A | CA2617923618 | GYS2 | c.942-27A>T (n.942-27A>T) c.*944-27A>T (n.*944-27A>T) n.869-27A>T c.723-27A>T (n.723-27A>T) c.711-27A>T (n.711-27A>T) | gnomAD v4 |
12 | g.21563065T>G | CA603675618 | GYS2 | c.942-27A>C (n.942-27A>C) c.*944-27A>C (n.*944-27A>C) n.869-27A>C c.723-27A>C (n.723-27A>C) c.711-27A>C (n.711-27A>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.21563065T= | CA2021179013 | GYS2 | c.942-27A= (n.942-27A=) c.*944-27A= (n.*944-27A=) n.869-27A= c.723-27A= (n.723-27A=) c.711-27A= (n.711-27A=) | |
12 | g.21563067A>C | CA2545105355 | GYS2 | c.942-29T>G (n.942-29T>G) c.*944-29T>G (n.*944-29T>G) n.869-29T>G c.723-29T>G (n.723-29T>G) c.711-29T>G (n.711-29T>G) | |
12 | g.21563068A= | CA2021179015 | GYS2 | c.942-30T= (n.942-30T=) c.*944-30T= (n.*944-30T=) n.869-30T= c.723-30T= (n.723-30T=) c.711-30T= (n.711-30T=) | |
12 | g.21563068A>C | CA686414641 | GYS2 | c.942-30T>G (n.942-30T>G) c.*944-30T>G (n.*944-30T>G) n.869-30T>G c.723-30T>G (n.723-30T>G) c.711-30T>G (n.711-30T>G) | dbSNP |
12 | g.21563068A>T | CA654198912 | GYS2 | c.942-30T>A (n.942-30T>A) c.*944-30T>A (n.*944-30T>A) n.869-30T>A c.723-30T>A (n.723-30T>A) c.711-30T>A (n.711-30T>A) | COSMIC |
12 | g.21563069A>C | CA2617923619 | GYS2 | c.942-31T>G (n.942-31T>G) c.*944-31T>G (n.*944-31T>G) n.869-31T>G c.723-31T>G (n.723-31T>G) c.711-31T>G (n.711-31T>G) | gnomAD v4 |
12 | g.21563071G>T | CA2575098466 | GYS2 | c.942-33C>A (n.942-33C>A) c.*944-33C>A (n.*944-33C>A) n.869-33C>A c.723-33C>A (n.723-33C>A) c.711-33C>A (n.711-33C>A) | gnomAD v4 |