Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.64759771_64759786delCA2574865076PYGMc.113_128del (p.Phe38SerfsTer?)
11g.64759774_64759778delCA2574865078PYGMc.122_126del (p.Val41GlyfsTer?)
ClinVar gnomAD v4
11g.64759774T>ACA381112711PYGMc.125A>T (p.Lys42Met)
11g.64759774T>CCA381112713PYGMc.125A>G (p.Lys42Arg)
11g.64759774T>GCA381112715PYGMc.125A>C (p.Lys42Thr)
11g.64759776delCA2574865079PYGMc.125del (p.Lys42ArgfsTer?)
ClinVar
11g.64759774_64759783delinsTTTACGAGTGCA1978929935PYGMc.116_125delinsCACTCGTAAA (p.Thr39=)
11g.64759775T>ACA381112718PYGMc.124A>T (p.Lys42Ter)
11g.64759775T>CCA381112720PYGMc.124A>G (p.Lys42Glu)
11g.64759775T>GCA381112722PYGMc.124A>C (p.Lys42Gln)
11g.64759776_64759784delCA938842249PYGMc.116_124del (p.Thr39_Val41del)
dbSNP gnomAD v3 gnomAD v4
11g.64759775_64759776insGGCA2695214474PYGMc.123_124insCC (p.Lys42ProfsTer?)
11g.64759776T>ACA475161394PYGMc.123A>T (p.Val41=)
11g.64759776T>CCA475161395PYGMc.123A>G (p.Val41=)
dbSNP
11g.64759776T>GCA475161396PYGMc.123A>C (p.Val41=)
11g.64759776T=CA1978929939PYGMc.123A= (p.Val41=)
11g.64759776_64759787delinsTACGAGTGTGAACA1978929938PYGMc.112_123delinsTTCACACTCGTA (p.Phe38=)
11g.64759777A>CCA381112740PYGMc.122T>G (p.Val41Gly)
11g.64759777A>GCA381112730PYGMc.122T>C (p.Val41Ala)
11g.64759777A>TCA381112728PYGMc.122T>A (p.Val41Glu)
11g.64759778_64759788delCA1139662020PYGMc.112_122del (p.Phe38LysfsTer?)
ClinVar dbSNP gnomAD v4
11g.64759778C>ACA381112750PYGMc.121G>T (p.Val41Leu)
11g.64759778C=CA1978929943PYGMc.121G= (p.Val41=)
11g.64759778C>GCA381112745PYGMc.121G>C (p.Val41Leu)
11g.64759778C>TCA6080367PYGMc.121G>A (p.Val41Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.64759778_64759779insTCA2695198894PYGMc.120_121insA (p.Val41SerfsTer?)
ClinVar
11g.64759779G>ACA6080368PYGMc.120C>T (p.Leu40=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759779G>CCA475161403PYGMc.120C>G (p.Leu40=)
ClinVar dbSNP
11g.64759779G=CA1978929946PYGMc.120C= (p.Leu40=)
11g.64759779G>TCA475161401PYGMc.120C>A (p.Leu40=)
ClinVar
11g.64759780A>CCA381112754PYGMc.119T>G (p.Leu40Arg)
11g.64759780A>GCA381112755PYGMc.119T>C (p.Leu40Pro)
11g.64759780A>TCA381112757PYGMc.119T>A (p.Leu40His)
11g.64759781G>ACA381112760PYGMc.118C>T (p.Leu40Phe)
gnomAD v4
11g.64759781G>CCA381112763PYGMc.118C>G (p.Leu40Val)
11g.64759781G>TCA381112765PYGMc.118C>A (p.Leu40Ile)
11g.64759782T>ACA475161410PYGMc.117A>T (p.Thr39=)
11g.64759782T>CCA475161408PYGMc.117A>G (p.Thr39=)
ClinVar dbSNP gnomAD v4
11g.64759782T>GCA475161406PYGMc.117A>C (p.Thr39=)
gnomAD v3 gnomAD v4
11g.64759783G>ACA223889352PYGMc.116C>T (p.Thr39Ile)
dbSNP gnomAD v4
11g.64759783G>CCA381112773PYGMc.116C>G (p.Thr39Arg)
11g.64759783G=CA1978929948PYGMc.116C= (p.Thr39=)
11g.64759783G>TCA381112776PYGMc.116C>A (p.Thr39Lys)
11g.64759784T>ACA381112783PYGMc.115A>T (p.Thr39Ser)
11g.64759784T>CCA6080369PYGMc.115A>G (p.Thr39Ala)
dbSNP ExAC gnomAD v2
11g.64759784T>GCA381112780PYGMc.115A>C (p.Thr39Pro)
11g.64759784T=CA1978929951PYGMc.115A= (p.Thr39=)
11g.64759785G>ACA6080370PYGMc.114C>T (p.Phe38=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759785G>CCA381112790PYGMc.114C>G (p.Phe38Leu)
11g.64759785G=CA1978929953PYGMc.114C= (p.Phe38=)
11g.64759785G>TCA381112794PYGMc.114C>A (p.Phe38Leu)
11g.64759786A>CCA381112797PYGMc.113T>G (p.Phe38Cys)
11g.64759786A>GCA381112799PYGMc.113T>C (p.Phe38Ser)
11g.64759786A>TCA381112800PYGMc.113T>A (p.Phe38Tyr)
11g.64759787A=CA1978929955PYGMc.112T= (p.Phe38=)
11g.64759787A>CCA381112803PYGMc.112T>G (p.Phe38Val)
11g.64759787A>GCA381112808PYGMc.112T>C (p.Phe38Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64759787A>TCA381112806PYGMc.112T>A (p.Phe38Ile)
11g.64759788A>CCA381112812PYGMc.111T>G (p.His37Gln)
11g.64759788A>GCA475161320PYGMc.111T>C (p.His37=)
ClinVar dbSNP
11g.64759788A>TCA381112816PYGMc.111T>A (p.His37Gln)
11g.64759789T>ACA381112821PYGMc.110A>T (p.His37Leu)
11g.64759789T>CCA381112828PYGMc.110A>G (p.His37Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.64759789T>GCA381112831PYGMc.110A>C (p.His37Pro)
11g.64759789T=CA1978929957PYGMc.110A= (p.His37=)
11g.64759790G>ACA381112836PYGMc.109C>T (p.His37Tyr)
11g.64759790G>CCA381112837PYGMc.109C>G (p.His37Asp)
dbSNP gnomAD v3 gnomAD v4
11g.64759790G=CA1978929958PYGMc.109C= (p.His37=)
11g.64759790G>TCA381112834PYGMc.109C>A (p.His37Asn)
11g.64759791delCA2574865090PYGMc.108del (p.His37IlefsTer5)
ClinVar
11g.64759791C>ACA475161323PYGMc.108G>T (p.Leu36=)
dbSNP gnomAD v4
11g.64759791C=CA1978929960PYGMc.108G= (p.Leu36=)
11g.64759791C>GCA475161324PYGMc.108G>C (p.Leu36=)
11g.64759791C>TCA475161326PYGMc.108G>A (p.Leu36=)
11g.64759792A=CA1978929963PYGMc.107T= (p.Leu36=)
11g.64759792A>CCA381112838PYGMc.107T>G (p.Leu36Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64759792A>GCA381112843PYGMc.107T>C (p.Leu36Pro)
gnomAD v4
11g.64759792A>TCA381112840PYGMc.107T>A (p.Leu36Gln)
11g.64759793G>ACA475161328PYGMc.106C>T (p.Leu36=)
ClinVar
11g.64759793G>CCA381112844PYGMc.106C>G (p.Leu36Val)
11g.64759793G>TCA381112847PYGMc.106C>A (p.Leu36Met)
11g.64759794G>ACA475161332PYGMc.105C>T (p.His35=)
ClinVar
11g.64759794G>CCA381112853PYGMc.105C>G (p.His35Gln)
11g.64759794G=CA1978929965PYGMc.105C= (p.His35=)
11g.64759794G>TCA381112854PYGMc.105C>A (p.His35Gln)
dbSNP
11g.64759795T>ACA381112855PYGMc.104A>T (p.His35Leu)
11g.64759795T>CCA381112856PYGMc.104A>G (p.His35Arg)
11g.64759795T>GCA381112857PYGMc.104A>C (p.His35Pro)
11g.64759796G>ACA381112859PYGMc.103C>T (p.His35Tyr)
dbSNP
11g.64759796G>CCA381112862PYGMc.103C>G (p.His35Asp)
11g.64759796G=CA1978929967PYGMc.103C= (p.His35=)
11g.64759796G>TCA381112865PYGMc.103C>A (p.His35Asn)
11g.64759797C>ACA475161336PYGMc.102G>T (p.Arg34=)
11g.64759797C>GCA475161337PYGMc.102G>C (p.Arg34=)
11g.64759797C>TCA475161338PYGMc.102G>A (p.Arg34=)
11g.64759798C>ACA381112873PYGMc.101G>T (p.Arg34Leu)
gnomAD v4
11g.64759798C=CA1978929969PYGMc.101G= (p.Arg34=)
11g.64759798C>GCA381112870PYGMc.101G>C (p.Arg34Pro)
11g.64759798C>TCA6080371PYGMc.101G>A (p.Arg34Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759798_64759800delCA2614191921PYGMc.99_101del (p.Asn33_Arg34delinsLys)
gnomAD v4
11g.64759799G>ACA6080372PYGMc.100C>T (p.Arg34Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759799G>CCA381112879PYGMc.100C>G (p.Arg34Gly)
11g.64759799G=CA1978929972PYGMc.100C= (p.Arg34=)
11g.64759799G>TCA475161342PYGMc.100C>A (p.Arg34=)
ClinVar dbSNP gnomAD v4
11g.64759800G>ACA475161345PYGMc.99C>T (p.Asn33=)
11g.64759800G>CCA381112886PYGMc.99C>G (p.Asn33Lys)
ClinVar
11g.64759800G>TCA381112889PYGMc.99C>A (p.Asn33Lys)
11g.64759801T>ACA381112891PYGMc.98A>T (p.Asn33Ile)
11g.64759801T>CCA10638975PYGMc.98A>G (p.Asn33Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64759801T>GCA381112895PYGMc.98A>C (p.Asn33Thr)
11g.64759801T=CA1978929975PYGMc.98A= (p.Asn33=)
11g.64759802T>ACA381112896PYGMc.97A>T (p.Asn33Tyr)
11g.64759802T>CCA381112897PYGMc.97A>G (p.Asn33Asp)
11g.64759802T>GCA381112898PYGMc.97A>C (p.Asn33His)
11g.64759803G>ACA475161347PYGMc.96C>T (p.Phe32=)
ClinVar
11g.64759803G>CCA381112899PYGMc.96C>G (p.Phe32Leu)
11g.64759803G>TCA381112900PYGMc.96C>A (p.Phe32Leu)
11g.64759804A>CCA381112903PYGMc.95T>G (p.Phe32Cys)
11g.64759804A>GCA381112904PYGMc.95T>C (p.Phe32Ser)
11g.64759804A>TCA381112901PYGMc.95T>A (p.Phe32Tyr)
11g.64759805A>CCA381112905PYGMc.94T>G (p.Phe32Val)
11g.64759805A>GCA381112907PYGMc.94T>C (p.Phe32Leu)
gnomAD v4
11g.64759805A>TCA381112911PYGMc.94T>A (p.Phe32Ile)
11g.64759806G>ACA475161351PYGMc.93C>T (p.Asn31=)
11g.64759806G>CCA381112913PYGMc.93C>G (p.Asn31Lys)
11g.64759806G>TCA381112915PYGMc.93C>A (p.Asn31Lys)
11g.64759807T>ACA381112920PYGMc.92A>T (p.Asn31Ile)
11g.64759807T>CCA381112924PYGMc.92A>G (p.Asn31Ser)
11g.64759807T>GCA381112926PYGMc.92A>C (p.Asn31Thr)
11g.64759808T>ACA381112930PYGMc.91A>T (p.Asn31Tyr)
11g.64759808T>CCA381112934PYGMc.91A>G (p.Asn31Asp)
11g.64759808T>GCA381112936PYGMc.91A>C (p.Asn31His)
11g.64759809C>ACA381112942PYGMc.90G>T (p.Lys30Asn)
gnomAD v4
11g.64759809C>GCA381112944PYGMc.90G>C (p.Lys30Asn)
11g.64759809C>TCA475161353PYGMc.90G>A (p.Lys30=)
gnomAD v4
11g.64759810T>ACA381112954PYGMc.89A>T (p.Lys30Met)
11g.64759810T>CCA6080373PYGMc.89A>G (p.Lys30Arg)
dbSNP ExAC gnomAD v2
11g.64759810T>GCA381112948PYGMc.89A>C (p.Lys30Thr)
11g.64759810T=CA1978929977PYGMc.89A= (p.Lys30=)
11g.64759811T>ACA381112956PYGMc.88A>T (p.Lys30Ter)
11g.64759811T>CCA381112958PYGMc.88A>G (p.Lys30Glu)
11g.64759811T>GCA381112961PYGMc.88A>C (p.Lys30Gln)
11g.64759812T>ACA381112962PYGMc.87A>T (p.Lys29Asn)
11g.64759812T>CCA475161355PYGMc.87A>G (p.Lys29=)
11g.64759812T>GCA381112963PYGMc.87A>C (p.Lys29Asn)
11g.64759813T>ACA381112964PYGMc.86A>T (p.Lys29Ile)
11g.64759813T>CCA381112965PYGMc.86A>G (p.Lys29Arg)
gnomAD v3 gnomAD v4
11g.64759813T>GCA381112966PYGMc.86A>C (p.Lys29Thr)
11g.64759814T>ACA381112970PYGMc.85A>T (p.Lys29Ter)
11g.64759814T>CCA381112973PYGMc.85A>G (p.Lys29Glu)
11g.64759814T>GCA381112975PYGMc.85A>C (p.Lys29Gln)
11g.64759815C>ACA475161357PYGMc.84G>T (p.Leu28=)
11g.64759815C=CA1978929981PYGMc.84G= (p.Leu28=)
11g.64759815C>GCA475161359PYGMc.84G>C (p.Leu28=)
dbSNP gnomAD v2 gnomAD v4
11g.64759815C>TCA6080374PYGMc.84G>A (p.Leu28=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759816A>CCA381112984PYGMc.83T>G (p.Leu28Arg)
11g.64759816A>GCA381112980PYGMc.83T>C (p.Leu28Pro)
gnomAD v4
11g.64759816A>TCA381112979PYGMc.83T>A (p.Leu28Gln)
11g.64759817G>ACA475161366PYGMc.82C>T (p.Leu28=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.64759817G>CCA381112987PYGMc.82C>G (p.Leu28Val)
dbSNP gnomAD v4
11g.64759817G=CA1978929984PYGMc.82C= (p.Leu28=)
11g.64759817G>TCA381112990PYGMc.82C>A (p.Leu28Met)
dbSNP gnomAD v4
11g.64759818C>ACA381112991PYGMc.81G>T (p.Glu27Asp)
11g.64759818C=CA1978929987PYGMc.81G= (p.Glu27=)
11g.64759818C>GCA381112992PYGMc.81G>C (p.Glu27Asp)
11g.64759818C>TCA6080375PYGMc.81G>A (p.Glu27=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759819T>ACA381112995PYGMc.80A>T (p.Glu27Val)
11g.64759819T>CCA381112997PYGMc.80A>G (p.Glu27Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64759819T>GCA381113004PYGMc.80A>C (p.Glu27Ala)
11g.64759819T=CA1978929991PYGMc.80A= (p.Glu27=)
11g.64759819_64759821delinsTCACA1978929989PYGMc.78_80delinsTGA (p.Thr26=)
11g.64759820C>ACA381113009PYGMc.79G>T (p.Glu27Ter)
11g.64759820C=CA1978929994PYGMc.79G= (p.Glu27=)
11g.64759820C>GCA381113012PYGMc.79G>C (p.Glu27Gln)
11g.64759820C>TCA381113014PYGMc.79G>A (p.Glu27Lys)
dbSNP gnomAD v2 gnomAD v4
11g.64759820_64759821delCA273947PYGMc.78_79del (p.Glu27AlafsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759821A>CCA475161371PYGMc.78T>G (p.Thr26=)
11g.64759821A>GCA475161372PYGMc.78T>C (p.Thr26=)
11g.64759821A>TCA475161373PYGMc.78T>A (p.Thr26=)
11g.64759822G>ACA381113026PYGMc.77C>T (p.Thr26Ile)
dbSNP
11g.64759822G>CCA6080376PYGMc.77C>G (p.Thr26Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759822G=CA1978929996PYGMc.77C= (p.Thr26=)
11g.64759822G>TCA381113029PYGMc.77C>A (p.Thr26Asn)
11g.64759823T>ACA381113039PYGMc.76A>T (p.Thr26Ser)
11g.64759823T>CCA381113035PYGMc.76A>G (p.Thr26Ala)
11g.64759823T>GCA381113034PYGMc.76A>C (p.Thr26Pro)
11g.64759823_64759832delCA912972832PYGMc.67_76del (p.Glu23LeufsTer3)
11g.64759823_64759832delinsTCACGTTCTCCA1978929999PYGMc.67_76delinsGAGAACGTGA (p.Glu23=)
11g.64759824C>ACA475161376PYGMc.75G>T (p.Val25=)
11g.64759824C>GCA475161377PYGMc.75G>C (p.Val25=)
11g.64759824C>TCA475161378PYGMc.75G>A (p.Val25=)
ClinVar
11g.64759828_64759836delCA658822244PYGMc.67_75del (p.Glu23_Val25del)
ClinVar dbSNP gnomAD v4
11g.64759825A>CCA381113041PYGMc.74T>G (p.Val25Gly)
11g.64759825A>GCA381113044PYGMc.74T>C (p.Val25Ala)
11g.64759825A>TCA381113046PYGMc.74T>A (p.Val25Glu)
11g.64759826C>ACA381113047PYGMc.73G>T (p.Val25Leu)
11g.64759826C=CA1978930002PYGMc.73G= (p.Val25=)
11g.64759826C>GCA381113048PYGMc.73G>C (p.Val25Leu)
11g.64759826C>TCA6080377PYGMc.73G>A (p.Val25Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759827G>ACA6080378PYGMc.72C>T (p.Asn24=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759827G>CCA381113053PYGMc.72C>G (p.Asn24Lys)
11g.64759827G=CA1978930006PYGMc.72C= (p.Asn24=)
11g.64759827G>TCA381113055PYGMc.72C>A (p.Asn24Lys)
11g.64759828T>ACA381113056PYGMc.71A>T (p.Asn24Ile)
11g.64759828T>CCA381113058PYGMc.71A>G (p.Asn24Ser)
11g.64759828T>GCA381113059PYGMc.71A>C (p.Asn24Thr)
11g.64759829T>ACA381113063PYGMc.70A>T (p.Asn24Tyr)
11g.64759829T>CCA381113065PYGMc.70A>G (p.Asn24Asp)
11g.64759829T>GCA381113062PYGMc.70A>C (p.Asn24His)
11g.64759830C>ACA381113067PYGMc.69G>T (p.Glu23Asp)
11g.64759830C=CA1978930007PYGMc.69G= (p.Glu23=)
11g.64759830C>GCA381113068PYGMc.69G>C (p.Glu23Asp)
dbSNP
11g.64759830C>TCA475161381PYGMc.69G>A (p.Glu23=)
11g.64759831T>ACA381113070PYGMc.68A>T (p.Glu23Val)
11g.64759831T>CCA223889409PYGMc.68A>G (p.Glu23Gly)
dbSNP
11g.64759831T>GCA381113073PYGMc.68A>C (p.Glu23Ala)
11g.64759831T=CA1978930008PYGMc.68A= (p.Glu23=)
11g.64759832C>ACA381113075PYGMc.67G>T (p.Glu23Ter)
11g.64759832C>GCA381113076PYGMc.67G>C (p.Glu23Gln)
11g.64759832C>TCA381113077PYGMc.67G>A (p.Glu23Lys)
11g.64759833delCA2831038866PYGMc.67del (p.Glu23ArgfsTer3)
11g.64759833_64759855delCA2739270519PYGMc.45_67del (p.Ser15ArgfsTer5)
ClinVar
11g.64759833C>ACA475161385PYGMc.66G>T (p.Val22=)
11g.64759833C>GCA475161387PYGMc.66G>C (p.Val22=)
11g.64759833C>TCA475161386PYGMc.66G>A (p.Val22=)
11g.64759834A>CCA381113079PYGMc.65T>G (p.Val22Gly)
11g.64759834A>GCA381113081PYGMc.65T>C (p.Val22Ala)
11g.64759834A>TCA381113084PYGMc.65T>A (p.Val22Glu)
11g.64759835C>ACA381113085PYGMc.64G>T (p.Val22Leu)
gnomAD v3 gnomAD v4
11g.64759835C=CA1978930012PYGMc.64G= (p.Val22=)
11g.64759835C>GCA381113086PYGMc.64G>C (p.Val22Leu)
dbSNP gnomAD v3 gnomAD v4
11g.64759835C>TCA10606633PYGMc.64G>A (p.Val22Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64759836G>ACA6080379PYGMc.63C>T (p.Gly21=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759836G>CCA475161389PYGMc.63C>G (p.Gly21=)
11g.64759836G=CA1978930016PYGMc.63C= (p.Gly21=)
11g.64759836G>TCA475161390PYGMc.63C>A (p.Gly21=)
gnomAD v4
11g.64759837C>ACA381113091PYGMc.62G>T (p.Gly21Val)
11g.64759837C>GCA381113093PYGMc.62G>C (p.Gly21Ala)
COSMIC
11g.64759837C>TCA381113096PYGMc.62G>A (p.Gly21Asp)
11g.64759838C>ACA381113099PYGMc.61G>T (p.Gly21Cys)
11g.64759838C=CA1978930020PYGMc.61G= (p.Gly21=)
11g.64759838C>GCA381113100PYGMc.61G>C (p.Gly21Arg)
11g.64759838C>TCA6080380PYGMc.61G>A (p.Gly21Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.64759839G>ACA6080381PYGMc.60C>T (p.Ala20=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759839G>CCA475161392PYGMc.60C>G (p.Ala20=)
11g.64759839G=CA1978930023PYGMc.60C= (p.Ala20=)
11g.64759839G>TCA475161393PYGMc.60C>A (p.Ala20=)
ClinVar COSMIC
11g.64759840G>ACA381113104PYGMc.59C>T (p.Ala20Val)
11g.64759840G>CCA381113108PYGMc.59C>G (p.Ala20Gly)
gnomAD v4
11g.64759840G>TCA381113111PYGMc.59C>A (p.Ala20Asp)
11g.64759841C>ACA381113114PYGMc.58G>T (p.Ala20Ser)
11g.64759841C=CA1978930025PYGMc.58G= (p.Ala20=)
11g.64759841C>GCA6080382PYGMc.58G>C (p.Ala20Pro)
dbSNP ExAC gnomAD v2
11g.64759841C>TCA381113115PYGMc.58G>A (p.Ala20Thr)
11g.64759842C>ACA475161397PYGMc.57G>T (p.Leu19=)
11g.64759842C>GCA475161398PYGMc.57G>C (p.Leu19=)
gnomAD v4
11g.64759842C>TCA475161399PYGMc.57G>A (p.Leu19=)
11g.64759844_64759854delCA2831038867PYGMc.47_57del (p.Val16GlyfsTer8)
11g.64759843A=CA1978930027PYGMc.56T= (p.Leu19=)
11g.64759843A>CCA381113119PYGMc.56T>G (p.Leu19Arg)
11g.64759843A>GCA381113117PYGMc.56T>C (p.Leu19Pro)
dbSNP gnomAD v2 gnomAD v4
11g.64759843A>TCA381113116PYGMc.56T>A (p.Leu19Gln)
gnomAD v4
11g.64759844G>ACA475161400PYGMc.55C>T (p.Leu19=)
ClinVar gnomAD v4
11g.64759844G>CCA6080383PYGMc.55C>G (p.Leu19Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759844G=CA1978930029PYGMc.55C= (p.Leu19=)
11g.64759844G>TCA381113121PYGMc.55C>A (p.Leu19Met)
11g.64759845dupCA2697548612PYGMc.55dup (p.Leu19ProfsTer9)
ClinVar
11g.64759845G>ACA475161402PYGMc.54C>T (p.Gly18=)
11g.64759845G>CCA475161404PYGMc.54C>G (p.Gly18=)
11g.64759845G>TCA475161405PYGMc.54C>A (p.Gly18=)
11g.64759846C>ACA381113123PYGMc.53G>T (p.Gly18Val)
11g.64759846C>GCA381113126PYGMc.53G>C (p.Gly18Ala)
11g.64759846C>TCA381113128PYGMc.53G>A (p.Gly18Asp)
11g.64759847C>ACA381113133PYGMc.52G>T (p.Gly18Cys)
11g.64759847C>GCA381113135PYGMc.52G>C (p.Gly18Arg)
11g.64759847C>TCA381113138PYGMc.52G>A (p.Gly18Ser)
gnomAD v4
11g.64759848A>CCA475161407PYGMc.51T>G (p.Arg17=)
11g.64759848A>GCA475161409PYGMc.51T>C (p.Arg17=)
11g.64759848A>TCA475161411PYGMc.51T>A (p.Arg17=)
11g.64759849C>ACA381113142PYGMc.50G>T (p.Arg17Leu)
11g.64759849C=CA1978930031PYGMc.50G= (p.Arg17=)
11g.64759849C>GCA381113147PYGMc.50G>C (p.Arg17Pro)
11g.64759849C>TCA6080384PYGMc.50G>A (p.Arg17His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759850G>ACA6080386PYGMc.49C>T (p.Arg17Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759850G>CCA381113150PYGMc.49C>G (p.Arg17Gly)
dbSNP
11g.64759850G=CA1978930034PYGMc.49C= (p.Arg17=)
11g.64759850G>TCA381113154PYGMc.49C>A (p.Arg17Ser)
11g.64759850_64759851delinsGCCA1978930036PYGMc.48_49delinsGC (p.Val16=)
11g.64759851delCA6080385PYGMc.48del (p.Arg17ValfsTer9)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759851C>ACA475161412PYGMc.48G>T (p.Val16=)
11g.64759851C>GCA475161413PYGMc.48G>C (p.Val16=)
11g.64759851C>TCA475161414PYGMc.48G>A (p.Val16=)
gnomAD v4
11g.64759854_64759855delCA2574865105PYGMc.47_48del (p.Val16AlafsTer11)
11g.64759852A=CA1978930040PYGMc.47T= (p.Val16=)
11g.64759852A>CCA381113159PYGMc.47T>G (p.Val16Gly)
11g.64759852A>GCA6080387PYGMc.47T>C (p.Val16Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759852A>TCA381113162PYGMc.47T>A (p.Val16Glu)
11g.64759853C>ACA381113174PYGMc.46G>T (p.Val16Leu)
11g.64759853C=CA1978930042PYGMc.46G= (p.Val16=)
11g.64759853C>GCA381113177PYGMc.46G>C (p.Val16Leu)
11g.64759853C>TCA223889435PYGMc.46G>A (p.Val16Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.64759853delinsAACA2695214476PYGMc.46delinsTT (p.Val16PhefsTer12)
11g.64759854A>CCA381113184PYGMc.45T>G (p.Ser15Arg)
11g.64759854A>GCA475161415PYGMc.45T>C (p.Ser15=)
ClinVar dbSNP gnomAD v4
11g.64759854A>TCA381113187PYGMc.45T>A (p.Ser15Arg)
11g.64759855C>ACA381113191PYGMc.44G>T (p.Ser15Ile)
11g.64759855C>GCA381113194PYGMc.44G>C (p.Ser15Thr)
11g.64759855C>TCA381113200PYGMc.44G>A (p.Ser15Asn)
COSMIC
11g.64759856T>ACA381113203PYGMc.43A>T (p.Ser15Cys)
11g.64759856T>CCA223889439PYGMc.43A>G (p.Ser15Gly)
dbSNP gnomAD v3 gnomAD v4
11g.64759856T>GCA381113217PYGMc.43A>C (p.Ser15Arg)
11g.64759856T=CA1978930044PYGMc.43A= (p.Ser15=)
11g.64759857G>ACA475161416PYGMc.42C>T (p.Ile14=)
11g.64759857G>CCA381113218PYGMc.42C>G (p.Ile14Met)
11g.64759857G>TCA475161417PYGMc.42C>A (p.Ile14=)
11g.64759858A=CA1978930046PYGMc.41T= (p.Ile14=)
11g.64759858A>CCA381113221PYGMc.41T>G (p.Ile14Ser)
11g.64759858A>GCA381113230PYGMc.41T>C (p.Ile14Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64759858A>TCA381113225PYGMc.41T>A (p.Ile14Asn)
11g.64759859T>ACA381113233PYGMc.40A>T (p.Ile14Phe)
11g.64759859T>CCA381113238PYGMc.40A>G (p.Ile14Val)
dbSNP gnomAD v4
11g.64759859T>GCA381113239PYGMc.40A>C (p.Ile14Leu)
11g.64759859T=CA1978930048PYGMc.40A= (p.Ile14=)
11g.64759860T>ACA381113241PYGMc.39A>T (p.Gln13His)
11g.64759860T>CCA475161418PYGMc.39A>G (p.Gln13=)
11g.64759860T>GCA381113242PYGMc.39A>C (p.Gln13His)
11g.64759861T>ACA381113243PYGMc.38A>T (p.Gln13Leu)
11g.64759861T>CCA381113244PYGMc.38A>G (p.Gln13Arg)
11g.64759861T>GCA381113246PYGMc.38A>C (p.Gln13Pro)
11g.64759862G>ACA381113248PYGMc.37C>T (p.Gln13Ter)
11g.64759862G>CCA381113256PYGMc.37C>G (p.Gln13Glu)
11g.64759862G>TCA381113258PYGMc.37C>A (p.Gln13Lys)
11g.64759863C>ACA381113269PYGMc.36G>T (p.Lys12Asn)
11g.64759863C>GCA381113272PYGMc.36G>C (p.Lys12Asn)
11g.64759863C>TCA475161419PYGMc.36G>A (p.Lys12=)
11g.64759864T>ACA381113285PYGMc.35A>T (p.Lys12Met)
11g.64759864T>CCA6080388PYGMc.35A>G (p.Lys12Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759864T>GCA381113283PYGMc.35A>C (p.Lys12Thr)
11g.64759864T=CA1978930050PYGMc.35A= (p.Lys12=)
11g.64759865T>ACA381113288PYGMc.34A>T (p.Lys12Ter)
11g.64759865T>CCA381113290PYGMc.34A>G (p.Lys12Glu)
gnomAD v4
11g.64759865T>GCA381113292PYGMc.34A>C (p.Lys12Gln)
11g.64759867_64759869delCA2557192712PYGMc.32_34del (p.Arg11del)
gnomAD v4
11g.64759866T>ACA381113294PYGMc.33A>T (p.Arg11Ser)
11g.64759866T>CCA475161420PYGMc.33A>G (p.Arg11=)
11g.64759866T>GCA381113300PYGMc.33A>C (p.Arg11Ser)
11g.64759867C>ACA381113305PYGMc.32G>T (p.Arg11Ile)
gnomAD v4
11g.64759867C>GCA381113318PYGMc.32G>C (p.Arg11Thr)
11g.64759867C>TCA381113328PYGMc.32G>A (p.Arg11Lys)
11g.64759868T>ACA381113332PYGMc.31A>T (p.Arg11Ter)
11g.64759868T>CCA381113333PYGMc.31A>G (p.Arg11Gly)
11g.64759868T>GCA6080389PYGMc.31A>C (p.Arg11=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759868T=CA1978930052PYGMc.31A= (p.Arg11=)
11g.64759871delCA2614192041PYGMc.31del (p.Arg11GlufsTer15)
gnomAD v4
11g.64759869T>ACA381113337PYGMc.30A>T (p.Lys10Asn)
11g.64759869T>CCA6080390PYGMc.30A>G (p.Lys10=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.64759869T>GCA381113334PYGMc.30A>C (p.Lys10Asn)
11g.64759869T=CA1978930055PYGMc.30A= (p.Lys10=)
11g.64759870T>ACA381113342PYGMc.29A>T (p.Lys10Ile)
11g.64759870T>CCA381113346PYGMc.29A>G (p.Lys10Arg)
11g.64759870T>GCA381113344PYGMc.29A>C (p.Lys10Thr)
11g.64759870T=CA1978930057PYGMc.29A= (p.Lys10=)
11g.64759871T>ACA381113350PYGMc.28A>T (p.Lys10Ter)
11g.64759871T>CCA381113355PYGMc.28A>G (p.Lys10Glu)
11g.64759871T>GCA381113347PYGMc.28A>C (p.Lys10Gln)
11g.64759874_64759881dupCA6080391PYGMc.21_28dup (p.Lys10ThrfsTer19)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64759872C>ACA381113360PYGMc.27G>T (p.Glu9Asp)
11g.64759872C>GCA381113356PYGMc.27G>C (p.Glu9Asp)
11g.64759872C>TCA475161421PYGMc.27G>A (p.Glu9=)
ClinVar dbSNP COSMIC
11g.64759873T>ACA381113371PYGMc.26A>T (p.Glu9Val)
11g.64759873T>CCA381113364PYGMc.26A>G (p.Glu9Gly)
11g.64759873T>GCA381113368PYGMc.26A>C (p.Glu9Ala)
11g.64759874delCA2695214477PYGMc.25del (p.Glu9ArgfsTer17)
11g.64759874C>ACA381113372PYGMc.25G>T (p.Glu9Ter)
11g.64759874C>GCA381113373PYGMc.25G>C (p.Glu9Gln)
11g.64759874C>TCA381113374PYGMc.25G>A (p.Glu9Lys)

Number of alleles fetched