11 | g.64759818C>A | CA381112991 | PYGM | c.81G>T (p.Glu27Asp)
| |
11 | g.64759818C= | CA1978929987 | PYGM | c.81G= (p.Glu27=)
| |
11 | g.64759818C>G | CA381112992 | PYGM | c.81G>C (p.Glu27Asp)
| |
11 | g.64759818C>T | CA6080375 | PYGM | c.81G>A (p.Glu27=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759819T>A | CA381112995 | PYGM | c.80A>T (p.Glu27Val)
| |
11 | g.64759819T>C | CA381112997 | PYGM | c.80A>G (p.Glu27Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759819T>G | CA381113004 | PYGM | c.80A>C (p.Glu27Ala)
| |
11 | g.64759819T= | CA1978929991 | PYGM | c.80A= (p.Glu27=)
| |
11 | g.64759819_64759821delinsTCA | CA1978929989 | PYGM | c.78_80delinsTGA (p.Thr26=)
| |
11 | g.64759820C>A | CA381113009 | PYGM | c.79G>T (p.Glu27Ter)
| |
11 | g.64759820C= | CA1978929994 | PYGM | c.79G= (p.Glu27=)
| |
11 | g.64759820C>G | CA381113012 | PYGM | c.79G>C (p.Glu27Gln)
| |
11 | g.64759820C>T | CA381113014 | PYGM | c.79G>A (p.Glu27Lys)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.64759820_64759821del | CA273947 | PYGM | c.78_79del (p.Glu27AlafsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759821A>C | CA475161371 | PYGM | c.78T>G (p.Thr26=)
| |
11 | g.64759821A>G | CA475161372 | PYGM | c.78T>C (p.Thr26=)
| |
11 | g.64759821A>T | CA475161373 | PYGM | c.78T>A (p.Thr26=)
| |
11 | g.64759822G>A | CA381113026 | PYGM | c.77C>T (p.Thr26Ile)
| dbSNP |
11 | g.64759822G>C | CA6080376 | PYGM | c.77C>G (p.Thr26Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759822G= | CA1978929996 | PYGM | c.77C= (p.Thr26=)
| |
11 | g.64759822G>T | CA381113029 | PYGM | c.77C>A (p.Thr26Asn)
| |
11 | g.64759823T>A | CA381113039 | PYGM | c.76A>T (p.Thr26Ser)
| |
11 | g.64759823T>C | CA381113035 | PYGM | c.76A>G (p.Thr26Ala)
| |
11 | g.64759823T>G | CA381113034 | PYGM | c.76A>C (p.Thr26Pro)
| |
11 | g.64759823_64759832del | CA912972832 | PYGM | c.67_76del (p.Glu23LeufsTer3)
| |
11 | g.64759823_64759832delinsTCACGTTCTC | CA1978929999 | PYGM | c.67_76delinsGAGAACGTGA (p.Glu23=)
| |
11 | g.64759824C>A | CA475161376 | PYGM | c.75G>T (p.Val25=)
| |
11 | g.64759824C>G | CA475161377 | PYGM | c.75G>C (p.Val25=)
| |
11 | g.64759824C>T | CA475161378 | PYGM | c.75G>A (p.Val25=)
| ClinVar |
11 | g.64759828_64759836del | CA658822244 | PYGM | c.67_75del (p.Glu23_Val25del)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759825A>C | CA381113041 | PYGM | c.74T>G (p.Val25Gly)
| |
11 | g.64759825A>G | CA381113044 | PYGM | c.74T>C (p.Val25Ala)
| |
11 | g.64759825A>T | CA381113046 | PYGM | c.74T>A (p.Val25Glu)
| |
11 | g.64759826C>A | CA381113047 | PYGM | c.73G>T (p.Val25Leu)
| |
11 | g.64759826C= | CA1978930002 | PYGM | c.73G= (p.Val25=)
| |
11 | g.64759826C>G | CA381113048 | PYGM | c.73G>C (p.Val25Leu)
| |
11 | g.64759826C>T | CA6080377 | PYGM | c.73G>A (p.Val25Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759827G>A | CA6080378 | PYGM | c.72C>T (p.Asn24=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759827G>C | CA381113053 | PYGM | c.72C>G (p.Asn24Lys)
| |
11 | g.64759827G= | CA1978930006 | PYGM | c.72C= (p.Asn24=)
| |
11 | g.64759827G>T | CA381113055 | PYGM | c.72C>A (p.Asn24Lys)
| |
11 | g.64759828T>A | CA381113056 | PYGM | c.71A>T (p.Asn24Ile)
| |
11 | g.64759828T>C | CA381113058 | PYGM | c.71A>G (p.Asn24Ser)
| |
11 | g.64759828T>G | CA381113059 | PYGM | c.71A>C (p.Asn24Thr)
| |
11 | g.64759829T>A | CA381113063 | PYGM | c.70A>T (p.Asn24Tyr)
| |
11 | g.64759829T>C | CA381113065 | PYGM | c.70A>G (p.Asn24Asp)
| |
11 | g.64759829T>G | CA381113062 | PYGM | c.70A>C (p.Asn24His)
| |
11 | g.64759830C>A | CA381113067 | PYGM | c.69G>T (p.Glu23Asp)
| |
11 | g.64759830C= | CA1978930007 | PYGM | c.69G= (p.Glu23=)
| |
11 | g.64759830C>G | CA381113068 | PYGM | c.69G>C (p.Glu23Asp)
| dbSNP |
11 | g.64759830C>T | CA475161381 | PYGM | c.69G>A (p.Glu23=)
| |
11 | g.64759831T>A | CA381113070 | PYGM | c.68A>T (p.Glu23Val)
| |
11 | g.64759831T>C | CA223889409 | PYGM | c.68A>G (p.Glu23Gly)
| dbSNP |
11 | g.64759831T>G | CA381113073 | PYGM | c.68A>C (p.Glu23Ala)
| |
11 | g.64759831T= | CA1978930008 | PYGM | c.68A= (p.Glu23=)
| |
11 | g.64759832C>A | CA381113075 | PYGM | c.67G>T (p.Glu23Ter)
| |
11 | g.64759832C>G | CA381113076 | PYGM | c.67G>C (p.Glu23Gln)
| |
11 | g.64759832C>T | CA381113077 | PYGM | c.67G>A (p.Glu23Lys)
| |
11 | g.64759833del | CA2831038866 | PYGM | c.67del (p.Glu23ArgfsTer3)
| |
11 | g.64759833_64759855del | CA2739270519 | PYGM | c.45_67del (p.Ser15ArgfsTer5)
| ClinVar |
11 | g.64759833C>A | CA475161385 | PYGM | c.66G>T (p.Val22=)
| |
11 | g.64759833C>G | CA475161387 | PYGM | c.66G>C (p.Val22=)
| |
11 | g.64759833C>T | CA475161386 | PYGM | c.66G>A (p.Val22=)
| |
11 | g.64759834A>C | CA381113079 | PYGM | c.65T>G (p.Val22Gly)
| |
11 | g.64759834A>G | CA381113081 | PYGM | c.65T>C (p.Val22Ala)
| |
11 | g.64759834A>T | CA381113084 | PYGM | c.65T>A (p.Val22Glu)
| |
11 | g.64759835C>A | CA381113085 | PYGM | c.64G>T (p.Val22Leu)
| gnomAD v3 gnomAD v4 |
11 | g.64759835C= | CA1978930012 | PYGM | c.64G= (p.Val22=)
| |
11 | g.64759835C>G | CA381113086 | PYGM | c.64G>C (p.Val22Leu)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759835C>T | CA10606633 | PYGM | c.64G>A (p.Val22Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759836G>A | CA6080379 | PYGM | c.63C>T (p.Gly21=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759836G>C | CA475161389 | PYGM | c.63C>G (p.Gly21=)
| |
11 | g.64759836G= | CA1978930016 | PYGM | c.63C= (p.Gly21=)
| |
11 | g.64759836G>T | CA475161390 | PYGM | c.63C>A (p.Gly21=)
| gnomAD v4 |
11 | g.64759837C>A | CA381113091 | PYGM | c.62G>T (p.Gly21Val)
| |
11 | g.64759837C>G | CA381113093 | PYGM | c.62G>C (p.Gly21Ala)
| COSMIC |
11 | g.64759837C>T | CA381113096 | PYGM | c.62G>A (p.Gly21Asp)
| |
11 | g.64759838C>A | CA381113099 | PYGM | c.61G>T (p.Gly21Cys)
| |
11 | g.64759838C= | CA1978930020 | PYGM | c.61G= (p.Gly21=)
| |
11 | g.64759838C>G | CA381113100 | PYGM | c.61G>C (p.Gly21Arg)
| |
11 | g.64759838C>T | CA6080380 | PYGM | c.61G>A (p.Gly21Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.64759839G>A | CA6080381 | PYGM | c.60C>T (p.Ala20=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759839G>C | CA475161392 | PYGM | c.60C>G (p.Ala20=)
| |
11 | g.64759839G= | CA1978930023 | PYGM | c.60C= (p.Ala20=)
| |
11 | g.64759839G>T | CA475161393 | PYGM | c.60C>A (p.Ala20=)
| ClinVar COSMIC |
11 | g.64759840G>A | CA381113104 | PYGM | c.59C>T (p.Ala20Val)
| |
11 | g.64759840G>C | CA381113108 | PYGM | c.59C>G (p.Ala20Gly)
| gnomAD v4 |
11 | g.64759840G>T | CA381113111 | PYGM | c.59C>A (p.Ala20Asp)
| |
11 | g.64759841C>A | CA381113114 | PYGM | c.58G>T (p.Ala20Ser)
| |
11 | g.64759841C= | CA1978930025 | PYGM | c.58G= (p.Ala20=)
| |
11 | g.64759841C>G | CA6080382 | PYGM | c.58G>C (p.Ala20Pro)
| dbSNP ExAC gnomAD v2 |
11 | g.64759841C>T | CA381113115 | PYGM | c.58G>A (p.Ala20Thr)
| |
11 | g.64759842C>A | CA475161397 | PYGM | c.57G>T (p.Leu19=)
| |
11 | g.64759842C>G | CA475161398 | PYGM | c.57G>C (p.Leu19=)
| gnomAD v4 |
11 | g.64759842C>T | CA475161399 | PYGM | c.57G>A (p.Leu19=)
| |
11 | g.64759844_64759854del | CA2831038867 | PYGM | c.47_57del (p.Val16GlyfsTer8)
| |
11 | g.64759843A= | CA1978930027 | PYGM | c.56T= (p.Leu19=)
| |
11 | g.64759843A>C | CA381113119 | PYGM | c.56T>G (p.Leu19Arg)
| |
11 | g.64759843A>G | CA381113117 | PYGM | c.56T>C (p.Leu19Pro)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.64759843A>T | CA381113116 | PYGM | c.56T>A (p.Leu19Gln)
| gnomAD v4 |
11 | g.64759844G>A | CA475161400 | PYGM | c.55C>T (p.Leu19=)
| ClinVar gnomAD v4 |
11 | g.64759844G>C | CA6080383 | PYGM | c.55C>G (p.Leu19Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759844G= | CA1978930029 | PYGM | c.55C= (p.Leu19=)
| |
11 | g.64759844G>T | CA381113121 | PYGM | c.55C>A (p.Leu19Met)
| |
11 | g.64759845dup | CA2697548612 | PYGM | c.55dup (p.Leu19ProfsTer9)
| ClinVar |
11 | g.64759845G>A | CA475161402 | PYGM | c.54C>T (p.Gly18=)
| |
11 | g.64759845G>C | CA475161404 | PYGM | c.54C>G (p.Gly18=)
| |
11 | g.64759845G>T | CA475161405 | PYGM | c.54C>A (p.Gly18=)
| |
11 | g.64759846C>A | CA381113123 | PYGM | c.53G>T (p.Gly18Val)
| |
11 | g.64759846C>G | CA381113126 | PYGM | c.53G>C (p.Gly18Ala)
| |
11 | g.64759846C>T | CA381113128 | PYGM | c.53G>A (p.Gly18Asp)
| |
11 | g.64759847C>A | CA381113133 | PYGM | c.52G>T (p.Gly18Cys)
| |
11 | g.64759847C>G | CA381113135 | PYGM | c.52G>C (p.Gly18Arg)
| |
11 | g.64759847C>T | CA381113138 | PYGM | c.52G>A (p.Gly18Ser)
| gnomAD v4 |
11 | g.64759848A>C | CA475161407 | PYGM | c.51T>G (p.Arg17=)
| |
11 | g.64759848A>G | CA475161409 | PYGM | c.51T>C (p.Arg17=)
| |
11 | g.64759848A>T | CA475161411 | PYGM | c.51T>A (p.Arg17=)
| |
11 | g.64759849C>A | CA381113142 | PYGM | c.50G>T (p.Arg17Leu)
| |
11 | g.64759849C= | CA1978930031 | PYGM | c.50G= (p.Arg17=)
| |
11 | g.64759849C>G | CA381113147 | PYGM | c.50G>C (p.Arg17Pro)
| |
11 | g.64759849C>T | CA6080384 | PYGM | c.50G>A (p.Arg17His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759850G>A | CA6080386 | PYGM | c.49C>T (p.Arg17Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759850G>C | CA381113150 | PYGM | c.49C>G (p.Arg17Gly)
| dbSNP |
11 | g.64759850G= | CA1978930034 | PYGM | c.49C= (p.Arg17=)
| |
11 | g.64759850G>T | CA381113154 | PYGM | c.49C>A (p.Arg17Ser)
| |
11 | g.64759850_64759851delinsGC | CA1978930036 | PYGM | c.48_49delinsGC (p.Val16=)
| |
11 | g.64759851del | CA6080385 | PYGM | c.48del (p.Arg17ValfsTer9)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759851C>A | CA475161412 | PYGM | c.48G>T (p.Val16=)
| |
11 | g.64759851C>G | CA475161413 | PYGM | c.48G>C (p.Val16=)
| |
11 | g.64759851C>T | CA475161414 | PYGM | c.48G>A (p.Val16=)
| gnomAD v4 |
11 | g.64759854_64759855del | CA2574865105 | PYGM | c.47_48del (p.Val16AlafsTer11)
| |
11 | g.64759852A= | CA1978930040 | PYGM | c.47T= (p.Val16=)
| |
11 | g.64759852A>C | CA381113159 | PYGM | c.47T>G (p.Val16Gly)
| |
11 | g.64759852A>G | CA6080387 | PYGM | c.47T>C (p.Val16Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759852A>T | CA381113162 | PYGM | c.47T>A (p.Val16Glu)
| |
11 | g.64759853C>A | CA381113174 | PYGM | c.46G>T (p.Val16Leu)
| |
11 | g.64759853C= | CA1978930042 | PYGM | c.46G= (p.Val16=)
| |
11 | g.64759853C>G | CA381113177 | PYGM | c.46G>C (p.Val16Leu)
| |
11 | g.64759853C>T | CA223889435 | PYGM | c.46G>A (p.Val16Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759853delinsAA | CA2695214476 | PYGM | c.46delinsTT (p.Val16PhefsTer12)
| |
11 | g.64759854A>C | CA381113184 | PYGM | c.45T>G (p.Ser15Arg)
| |
11 | g.64759854A>G | CA475161415 | PYGM | c.45T>C (p.Ser15=)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759854A>T | CA381113187 | PYGM | c.45T>A (p.Ser15Arg)
| |
11 | g.64759855C>A | CA381113191 | PYGM | c.44G>T (p.Ser15Ile)
| |
11 | g.64759855C>G | CA381113194 | PYGM | c.44G>C (p.Ser15Thr)
| |
11 | g.64759855C>T | CA381113200 | PYGM | c.44G>A (p.Ser15Asn)
| COSMIC |
11 | g.64759856T>A | CA381113203 | PYGM | c.43A>T (p.Ser15Cys)
| |
11 | g.64759856T>C | CA223889439 | PYGM | c.43A>G (p.Ser15Gly)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759856T>G | CA381113217 | PYGM | c.43A>C (p.Ser15Arg)
| |
11 | g.64759856T= | CA1978930044 | PYGM | c.43A= (p.Ser15=)
| |
11 | g.64759857G>A | CA475161416 | PYGM | c.42C>T (p.Ile14=)
| |
11 | g.64759857G>C | CA381113218 | PYGM | c.42C>G (p.Ile14Met)
| |
11 | g.64759857G>T | CA475161417 | PYGM | c.42C>A (p.Ile14=)
| |
11 | g.64759858A= | CA1978930046 | PYGM | c.41T= (p.Ile14=)
| |
11 | g.64759858A>C | CA381113221 | PYGM | c.41T>G (p.Ile14Ser)
| |
11 | g.64759858A>G | CA381113230 | PYGM | c.41T>C (p.Ile14Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759858A>T | CA381113225 | PYGM | c.41T>A (p.Ile14Asn)
| |
11 | g.64759859T>A | CA381113233 | PYGM | c.40A>T (p.Ile14Phe)
| |
11 | g.64759859T>C | CA381113238 | PYGM | c.40A>G (p.Ile14Val)
| dbSNP gnomAD v4 |
11 | g.64759859T>G | CA381113239 | PYGM | c.40A>C (p.Ile14Leu)
| |
11 | g.64759859T= | CA1978930048 | PYGM | c.40A= (p.Ile14=)
| |
11 | g.64759860T>A | CA381113241 | PYGM | c.39A>T (p.Gln13His)
| |
11 | g.64759860T>C | CA475161418 | PYGM | c.39A>G (p.Gln13=)
| |
11 | g.64759860T>G | CA381113242 | PYGM | c.39A>C (p.Gln13His)
| |
11 | g.64759861T>A | CA381113243 | PYGM | c.38A>T (p.Gln13Leu)
| |
11 | g.64759861T>C | CA381113244 | PYGM | c.38A>G (p.Gln13Arg)
| |
11 | g.64759861T>G | CA381113246 | PYGM | c.38A>C (p.Gln13Pro)
| |
11 | g.64759862G>A | CA381113248 | PYGM | c.37C>T (p.Gln13Ter)
| |
11 | g.64759862G>C | CA381113256 | PYGM | c.37C>G (p.Gln13Glu)
| |
11 | g.64759862G>T | CA381113258 | PYGM | c.37C>A (p.Gln13Lys)
| |
11 | g.64759863C>A | CA381113269 | PYGM | c.36G>T (p.Lys12Asn)
| |
11 | g.64759863C>G | CA381113272 | PYGM | c.36G>C (p.Lys12Asn)
| |
11 | g.64759863C>T | CA475161419 | PYGM | c.36G>A (p.Lys12=)
| |
11 | g.64759864T>A | CA381113285 | PYGM | c.35A>T (p.Lys12Met)
| |
11 | g.64759864T>C | CA6080388 | PYGM | c.35A>G (p.Lys12Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759864T>G | CA381113283 | PYGM | c.35A>C (p.Lys12Thr)
| |
11 | g.64759864T= | CA1978930050 | PYGM | c.35A= (p.Lys12=)
| |
11 | g.64759865T>A | CA381113288 | PYGM | c.34A>T (p.Lys12Ter)
| |
11 | g.64759865T>C | CA381113290 | PYGM | c.34A>G (p.Lys12Glu)
| gnomAD v4 |
11 | g.64759865T>G | CA381113292 | PYGM | c.34A>C (p.Lys12Gln)
| |
11 | g.64759867_64759869del | CA2557192712 | PYGM | c.32_34del (p.Arg11del)
| gnomAD v4 |
11 | g.64759866T>A | CA381113294 | PYGM | c.33A>T (p.Arg11Ser)
| |
11 | g.64759866T>C | CA475161420 | PYGM | c.33A>G (p.Arg11=)
| |
11 | g.64759866T>G | CA381113300 | PYGM | c.33A>C (p.Arg11Ser)
| |
11 | g.64759867C>A | CA381113305 | PYGM | c.32G>T (p.Arg11Ile)
| gnomAD v4 |
11 | g.64759867C>G | CA381113318 | PYGM | c.32G>C (p.Arg11Thr)
| |
11 | g.64759867C>T | CA381113328 | PYGM | c.32G>A (p.Arg11Lys)
| |
11 | g.64759868T>A | CA381113332 | PYGM | c.31A>T (p.Arg11Ter)
| |
11 | g.64759868T>C | CA381113333 | PYGM | c.31A>G (p.Arg11Gly)
| |
11 | g.64759868T>G | CA6080389 | PYGM | c.31A>C (p.Arg11=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759868T= | CA1978930052 | PYGM | c.31A= (p.Arg11=)
| |
11 | g.64759871del | CA2614192041 | PYGM | c.31del (p.Arg11GlufsTer15)
| gnomAD v4 |
11 | g.64759869T>A | CA381113337 | PYGM | c.30A>T (p.Lys10Asn)
| |
11 | g.64759869T>C | CA6080390 | PYGM | c.30A>G (p.Lys10=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759869T>G | CA381113334 | PYGM | c.30A>C (p.Lys10Asn)
| |
11 | g.64759869T= | CA1978930055 | PYGM | c.30A= (p.Lys10=)
| |
11 | g.64759870T>A | CA381113342 | PYGM | c.29A>T (p.Lys10Ile)
| |
11 | g.64759870T>C | CA381113346 | PYGM | c.29A>G (p.Lys10Arg)
| |
11 | g.64759870T>G | CA381113344 | PYGM | c.29A>C (p.Lys10Thr)
| |
11 | g.64759870T= | CA1978930057 | PYGM | c.29A= (p.Lys10=)
| |
11 | g.64759871T>A | CA381113350 | PYGM | c.28A>T (p.Lys10Ter)
| |
11 | g.64759871T>C | CA381113355 | PYGM | c.28A>G (p.Lys10Glu)
| |
11 | g.64759871T>G | CA381113347 | PYGM | c.28A>C (p.Lys10Gln)
| |
11 | g.64759874_64759881dup | CA6080391 | PYGM | c.21_28dup (p.Lys10ThrfsTer19)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759872C>A | CA381113360 | PYGM | c.27G>T (p.Glu9Asp)
| |
11 | g.64759872C>G | CA381113356 | PYGM | c.27G>C (p.Glu9Asp)
| |
11 | g.64759872C>T | CA475161421 | PYGM | c.27G>A (p.Glu9=)
| ClinVar dbSNP COSMIC |
11 | g.64759873T>A | CA381113371 | PYGM | c.26A>T (p.Glu9Val)
| |
11 | g.64759873T>C | CA381113364 | PYGM | c.26A>G (p.Glu9Gly)
| |
11 | g.64759873T>G | CA381113368 | PYGM | c.26A>C (p.Glu9Ala)
| |
11 | g.64759874del | CA2695214477 | PYGM | c.25del (p.Glu9ArgfsTer17)
| |
11 | g.64759874C>A | CA381113372 | PYGM | c.25G>T (p.Glu9Ter)
| |
11 | g.64759874C>G | CA381113373 | PYGM | c.25G>C (p.Glu9Gln)
| |
11 | g.64759874C>T | CA381113374 | PYGM | c.25G>A (p.Glu9Lys)
| |
11 | g.64759875T>A | CA381113375 | PYGM | c.24A>T (p.Gln8His)
| |
11 | g.64759875T>C | CA475161422 | PYGM | c.24A>G (p.Gln8=)
| |
11 | g.64759875T>G | CA381113376 | PYGM | c.24A>C (p.Gln8His)
| |
11 | g.64759876T>A | CA381113377 | PYGM | c.23A>T (p.Gln8Leu)
| |
11 | g.64759876T>C | CA381113378 | PYGM | c.23A>G (p.Gln8Arg)
| dbSNP |
11 | g.64759876T>G | CA381113379 | PYGM | c.23A>C (p.Gln8Pro)
| |
11 | g.64759876T= | CA1978930062 | PYGM | c.23A= (p.Gln8=)
| |
11 | g.64759877G>A | CA381113380 | PYGM | c.22C>T (p.Gln8Ter)
| |
11 | g.64759877G>C | CA381113381 | PYGM | c.22C>G (p.Gln8Glu)
| |
11 | g.64759877G= | CA1978930065 | PYGM | c.22C= (p.Gln8=)
| |
11 | g.64759877G>T | CA10631142 | PYGM | c.22C>A (p.Gln8Lys)
| ClinVar dbSNP |
11 | g.64759878G>A | CA475161423 | PYGM | c.21C>T (p.Asp7=)
| gnomAD v4 |
11 | g.64759878G>C | CA381113383 | PYGM | c.21C>G (p.Asp7Glu)
| |
11 | g.64759878G>T | CA381113382 | PYGM | c.21C>A (p.Asp7Glu)
| |
11 | g.64759879T>A | CA381113386 | PYGM | c.20A>T (p.Asp7Val)
| |
11 | g.64759879T>C | CA381113389 | PYGM | c.20A>G (p.Asp7Gly)
| |
11 | g.64759879T>G | CA381113390 | PYGM | c.20A>C (p.Asp7Ala)
| |
11 | g.64759880C>A | CA381113391 | PYGM | c.19G>T (p.Asp7Tyr)
| |
11 | g.64759880C>G | CA381113400 | PYGM | c.19G>C (p.Asp7His)
| |
11 | g.64759880C>T | CA381113403 | PYGM | c.19G>A (p.Asp7Asn)
| |
11 | g.64759881T>A | CA475161424 | PYGM | c.18A>T (p.Ser6=)
| |
11 | g.64759881T>C | CA475161425 | PYGM | c.18A>G (p.Ser6=)
| dbSNP |
11 | g.64759881T>G | CA475161426 | PYGM | c.18A>C (p.Ser6=)
| |
11 | g.64759881T= | CA1978930068 | PYGM | c.18A= (p.Ser6=)
| |
11 | g.64759882G>A | CA381113407 | PYGM | c.17C>T (p.Ser6Leu)
| |
11 | g.64759882G>C | CA381113408 | PYGM | c.17C>G (p.Ser6Ter)
| |
11 | g.64759882G>T | CA381113409 | PYGM | c.17C>A (p.Ser6Ter)
| |
11 | g.64759886_64759897del | CA2574865108 | PYGM | c.6_17del (p.Arg3_Ser6del)
| |
11 | g.64759883A= | CA1978930070 | PYGM | c.16T= (p.Ser6=)
| |
11 | g.64759883A>C | CA381113410 | PYGM | c.16T>G (p.Ser6Ala)
| |
11 | g.64759883A>G | CA381113411 | PYGM | c.16T>C (p.Ser6Pro)
| |
11 | g.64759883A>T | CA6080392 | PYGM | c.16T>A (p.Ser6Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.64759884C>A | CA475161427 | PYGM | c.15G>T (p.Leu5=)
| |
11 | g.64759884C= | CA1978930075 | PYGM | c.15G= (p.Leu5=)
| |
11 | g.64759884C>G | CA10587132 | PYGM | c.15G>C (p.Leu5=)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759884C>T | CA475161428 | PYGM | c.15G>A (p.Leu5=)
| |
11 | g.64759884_64759885delinsCA | CA1978930073 | PYGM | c.14_15delinsTG (p.Leu5=)
| |
11 | g.64759884_64759886delinsCAG | CA1978930072 | PYGM | c.13_15delinsCTG (p.Leu5=)
| |
11 | g.64759885del | CA599803669 | PYGM | c.14del (p.Leu5ArgfsTer21)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759885A= | CA1978930080 | PYGM | c.14T= (p.Leu5=)
| |
11 | g.64759885A>C | CA381113413 | PYGM | c.14T>G (p.Leu5Arg)
| |
11 | g.64759885A>G | CA381113414 | PYGM | c.14T>C (p.Leu5Pro)
| dbSNP gnomAD v4 |
11 | g.64759885A>T | CA381113415 | PYGM | c.14T>A (p.Leu5Gln)
| |
11 | g.64759885_64759886del | CA6080393 | PYGM | c.13_14del (p.Leu5ValfsTer22)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759886G>A | CA475161429 | PYGM | c.13C>T (p.Leu5=)
| |
11 | g.64759886G>C | CA381113416 | PYGM | c.13C>G (p.Leu5Val)
| |
11 | g.64759886G>T | CA381113418 | PYGM | c.13C>A (p.Leu5Met)
| |
11 | g.64759887G>A | CA475161430 | PYGM | c.12C>T (p.Pro4=)
| |
11 | g.64759887G>C | CA475161432 | PYGM | c.12C>G (p.Pro4=)
| |
11 | g.64759887G>T | CA475161431 | PYGM | c.12C>A (p.Pro4=)
| |
11 | g.64759888G>A | CA6080394 | PYGM | c.11C>T (p.Pro4Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759888G>C | CA381113419 | PYGM | c.11C>G (p.Pro4Arg)
| |
11 | g.64759888G= | CA1978930082 | PYGM | c.11C= (p.Pro4=)
| |
11 | g.64759888G>T | CA381113420 | PYGM | c.11C>A (p.Pro4His)
| |
11 | g.64759889G>A | CA381113423 | PYGM | c.10C>T (p.Pro4Ser)
| gnomAD v4 |
11 | g.64759889G>C | CA381113426 | PYGM | c.10C>G (p.Pro4Ala)
| |
11 | g.64759889G>T | CA381113427 | PYGM | c.10C>A (p.Pro4Thr)
| |
11 | g.64759890C>A | CA475161433 | PYGM | c.9G>T (p.Arg3=)
| |
11 | g.64759890C>G | CA475161434 | PYGM | c.9G>C (p.Arg3=)
| |
11 | g.64759890C>T | CA475161435 | PYGM | c.9G>A (p.Arg3=)
| |
11 | g.64759891dup | CA2614192068 | PYGM | c.9dup (p.Pro4AlafsTer24)
| gnomAD v4 |
11 | g.64759891C>A | CA381113429 | PYGM | c.8G>T (p.Arg3Leu)
| gnomAD v4 |
11 | g.64759891C= | CA1978930084 | PYGM | c.8G= (p.Arg3=)
| |
11 | g.64759891C>G | CA381113431 | PYGM | c.8G>C (p.Arg3Pro)
| |
11 | g.64759891C>T | CA6080395 | PYGM | c.8G>A (p.Arg3Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759892G>A | CA6080396 | PYGM | c.7C>T (p.Arg3Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759892G>C | CA381113434 | PYGM | c.7C>G (p.Arg3Gly)
| dbSNP gnomAD v4 |
11 | g.64759892G= | CA1978930087 | PYGM | c.7C= (p.Arg3=)
| |
11 | g.64759892G>T | CA475161436 | PYGM | c.7C>A (p.Arg3=)
| |
11 | g.64759893G>A | CA475161437 | PYGM | c.6C>T (p.Ser2=)
| |
11 | g.64759893G>C | CA475161438 | PYGM | c.6C>G (p.Ser2=)
| |
11 | g.64759893G>T | CA475161439 | PYGM | c.6C>A (p.Ser2=)
| |
11 | g.64759894G>A | CA381113450 | PYGM | c.5C>T (p.Ser2Phe)
| |
11 | g.64759894G>C | CA381113455 | PYGM | c.5C>G (p.Ser2Cys)
| |
11 | g.64759894G>T | CA381113459 | PYGM | c.5C>A (p.Ser2Tyr)
| |
11 | g.64759895A>C | CA381113463 | PYGM | c.4T>G (p.Ser2Ala)
| |
11 | g.64759895A>G | CA381113465 | PYGM | c.4T>C (p.Ser2Pro)
| |
11 | g.64759895A>T | CA381113468 | PYGM | c.4T>A (p.Ser2Thr)
| |
11 | g.64759896C>A | CA381113473 | PYGM | c.3G>T (p.Met1Ile)
| |
11 | g.64759896C>G | CA381113487 | PYGM | c.3G>C (p.Met1Ile)
| |
11 | g.64759896C>T | CA381113489 | PYGM | c.3G>A (p.Met1Ile)
| ClinVar |
11 | g.64759897A= | CA1978930092 | PYGM | c.2T= (p.Met1=)
| |
11 | g.64759897A>C | CA381113495 | PYGM | c.2T>G (p.Met1Arg)
| |
11 | g.64759897A>G | CA381113497 | PYGM | c.2T>C (p.Met1Thr)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759897A>T | CA381113506 | PYGM | c.2T>A (p.Met1Lys)
| |
11 | g.64759898T>A | CA381113509 | PYGM | c.1A>T (p.Met1Leu)
| ClinVar dbSNP |
11 | g.64759898T>C | CA252209 | PYGM | c.1A>G (p.Met1Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759898T>G | CA270754 | PYGM | c.1A>C (p.Met1Leu)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759898T= | CA1978930096 | PYGM | c.1A= (p.Met1=)
| |
11 | g.64759899G>A | CA2614192076 | PYGM | c.-1C>T (n.-1C>T)
| gnomAD v4 |
11 | g.64759900G>A | CA223889470 | PYGM | c.-2C>T (n.-2C>T)
| dbSNP |
11 | g.64759900G>C | CA2614192077 | PYGM | c.-2C>G (n.-2C>G)
| gnomAD v4 |
11 | g.64759900G= | CA1978930101 | PYGM | c.-2C= (n.-2C=)
| |
11 | g.64759901C= | CA1978930102 | PYGM | c.-3G= (n.-3G=)
| |
11 | g.64759901C>T | CA6080397 | PYGM | c.-3G>A (n.-3G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759903G>A | CA2614192078 | PYGM | c.-5C>T (n.-5C>T)
| gnomAD v4 |
11 | g.64759905A>G | CA2614192080 | PYGM | c.-7T>C (n.-7T>C)
| gnomAD v4 |
11 | g.64759906G>A | CA599803670 | PYGM | c.-8C>T (n.-8C>T)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.64759906G= | CA1978930104 | PYGM | c.-8C= (n.-8C=)
| |
11 | g.64759907G>A | CA6080398 | PYGM | c.-9C>T (n.-9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759907G= | CA1978930105 | PYGM | c.-9C= (n.-9C=)
| |
11 | g.64759908A>T | CA2614192083 | PYGM | c.-10T>A (n.-10T>A)
| gnomAD v4 |
11 | g.64759909G>A | CA6080399 | PYGM | c.-11C>T (n.-11C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759909G= | CA1978930107 | PYGM | c.-11C= (n.-11C=)
| |
11 | g.64759911_64759915dup | CA2614192084 | PYGM | c.-15_-11dup (n.-15_-11dup)
| gnomAD v4 |
11 | g.64759910G>A | CA2614192086 | PYGM | c.-12C>T (n.-12C>T)
| gnomAD v4 |
11 | g.64759911G>A | CA6080400 | PYGM | c.-13C>T (n.-13C>T)
| dbSNP ExAC gnomAD v2 |
11 | g.64759911G= | CA1978930109 | PYGM | c.-13C= (n.-13C=)
| |
11 | g.64759912C= | CA1978930111 | PYGM | c.-14G= (n.-14G=)
| |
11 | g.64759912C>T | CA6080401 | PYGM | c.-14G>A (n.-14G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759913G>A | CA6080402 | PYGM | c.-15C>T (n.-15C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759913G>C | CA6080403 | PYGM | c.-15C>G (n.-15C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759913G= | CA1978930113 | PYGM | c.-15C= (n.-15C=)
| |
11 | g.64759914G>A | CA2614192087 | PYGM | c.-16C>T (n.-16C>T)
| gnomAD v4 |
11 | g.64759917del | CA2614192088 | PYGM | c.-18del (n.-18del)
| gnomAD v4 |
11 | g.64759917C>A | CA223889492 | PYGM | c.-19G>T (n.-19G>T)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759917C= | CA1978930116 | PYGM | c.-19G= (n.-19G=)
| |
11 | g.64759917C>G | CA2574865118 | PYGM | c.-19G>C (n.-19G>C)
| |
11 | g.64759917C>T | CA599803671 | PYGM | c.-19G>A (n.-19G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759918G>A | CA6080405 | PYGM | c.-20C>T (n.-20C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759918G= | CA1978930118 | PYGM | c.-20C= (n.-20C=)
| |
11 | g.64759918G>T | CA2614192092 | PYGM | c.-20C>A (n.-20C>A)
| gnomAD v4 |
11 | g.64759924_64759928dup | CA6080404 | PYGM | c.-24_-20dup (n.-24_-20dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |