11 | g.64759707_64759747del | CA2792428936 | PYGM | c.152_192del (p.Asp51GlyfsTer13)
| |
11 | g.64759730_64759735delinsCCAGAG | CA1978929829 | PYGM | c.164_169delinsCTCTGG (p.Ala55=)
| |
11 | g.64759731C>A | CA475161335 | PYGM | c.168G>T (p.Leu56=)
| |
11 | g.64759731C>G | CA475161334 | PYGM | c.168G>C (p.Leu56=)
| |
11 | g.64759731C>T | CA475161333 | PYGM | c.168G>A (p.Leu56=)
| |
11 | g.64759733_64759737del | CA6080355 | PYGM | c.164_168del (p.Ala55GlyfsTer21)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.64759732A>C | CA381112391 | PYGM | c.167T>G (p.Leu56Arg)
| |
11 | g.64759732A>G | CA381112393 | PYGM | c.167T>C (p.Leu56Pro)
| |
11 | g.64759732A>T | CA381112394 | PYGM | c.167T>A (p.Leu56Gln)
| |
11 | g.64759733G>A | CA475161339 | PYGM | c.166C>T (p.Leu56=)
| ClinVar dbSNP |
11 | g.64759733G>C | CA381112399 | PYGM | c.166C>G (p.Leu56Val)
| |
11 | g.64759733G>T | CA381112401 | PYGM | c.166C>A (p.Leu56Met)
| |
11 | g.64759734A>C | CA475161341 | PYGM | c.165T>G (p.Ala55=)
| |
11 | g.64759734A>G | CA475161343 | PYGM | c.165T>C (p.Ala55=)
| |
11 | g.64759734A>T | CA475161344 | PYGM | c.165T>A (p.Ala55=)
| |
11 | g.64759735G>A | CA381112404 | PYGM | c.164C>T (p.Ala55Val)
| COSMIC |
11 | g.64759735G>C | CA381112411 | PYGM | c.164C>G (p.Ala55Gly)
| |
11 | g.64759735G>T | CA381112415 | PYGM | c.164C>A (p.Ala55Asp)
| |
11 | g.64759736C>A | CA381112420 | PYGM | c.163G>T (p.Ala55Ser)
| |
11 | g.64759736C= | CA1978929841 | PYGM | c.163G= (p.Ala55=)
| |
11 | g.64759736C>G | CA381112423 | PYGM | c.163G>C (p.Ala55Pro)
| |
11 | g.64759736C>T | CA381112419 | PYGM | c.163G>A (p.Ala55Thr)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.64759737A>C | CA381112430 | PYGM | c.162T>G (p.Phe54Leu)
| |
11 | g.64759737A>G | CA475161348 | PYGM | c.162T>C (p.Phe54=)
| |
11 | g.64759737A>T | CA381112426 | PYGM | c.162T>A (p.Phe54Leu)
| |
11 | g.64759739dup | CA912972831 | PYGM | c.162dup (p.Ala55CysfsTer23)
| |
11 | g.64759738A= | CA1978929844 | PYGM | c.161T= (p.Phe54=)
| |
11 | g.64759738A>C | CA381112434 | PYGM | c.161T>G (p.Phe54Cys)
| |
11 | g.64759738A>G | CA381112436 | PYGM | c.161T>C (p.Phe54Ser)
| |
11 | g.64759738A>T | CA6080356 | PYGM | c.161T>A (p.Phe54Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759738_64759741delinsAAGT | CA1978929845 | PYGM | c.158_161delinsACTT (p.Tyr53=)
| |
11 | g.64759739A= | CA1978929854 | PYGM | c.160T= (p.Phe54=)
| |
11 | g.64759739A>C | CA6080357 | PYGM | c.160T>G (p.Phe54Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759739A>G | CA381112441 | PYGM | c.160T>C (p.Phe54Leu)
| gnomAD v4 |
11 | g.64759739A>T | CA381112444 | PYGM | c.160T>A (p.Phe54Ile)
| |
11 | g.64759745_64759747dup | CA658822243 | PYGM | c.158_160dup (p.Tyr53_Phe54insTyr)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759745_64759747del | CA679278043 | PYGM | c.158_160del (p.Tyr53del)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759740G>A | CA475161350 | PYGM | c.159C>T (p.Tyr53=)
| gnomAD v4 |
11 | g.64759740G>C | CA381112448 | PYGM | c.159C>G (p.Tyr53Ter)
| |
11 | g.64759740G>T | CA381112450 | PYGM | c.159C>A (p.Tyr53Ter)
| |
11 | g.64759741T>A | CA381112453 | PYGM | c.158A>T (p.Tyr53Phe)
| gnomAD v4 |
11 | g.64759741T>C | CA381112457 | PYGM | c.158A>G (p.Tyr53Cys)
| |
11 | g.64759741T>G | CA381112459 | PYGM | c.158A>C (p.Tyr53Ser)
| |
11 | g.64759742del | CA2573147417 | PYGM | c.157del (p.Tyr53ThrfsTer?)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759742A>C | CA381112467 | PYGM | c.157T>G (p.Tyr53Asp)
| |
11 | g.64759742A>G | CA381112473 | PYGM | c.157T>C (p.Tyr53His)
| gnomAD v4 |
11 | g.64759742A>T | CA381112461 | PYGM | c.157T>A (p.Tyr53Asn)
| |
11 | g.64759743G>A | CA475161352 | PYGM | c.156C>T (p.Tyr52=)
| ClinVar |
11 | g.64759743G>C | CA381112475 | PYGM | c.156C>G (p.Tyr52Ter)
| |
11 | g.64759743G>T | CA381112478 | PYGM | c.156C>A (p.Tyr52Ter)
| |
11 | g.64759744T>A | CA381112481 | PYGM | c.155A>T (p.Tyr52Phe)
| |
11 | g.64759744T>C | CA381112482 | PYGM | c.155A>G (p.Tyr52Cys)
| |
11 | g.64759744T>G | CA381112487 | PYGM | c.155A>C (p.Tyr52Ser)
| |
11 | g.64759745A= | CA1978929861 | PYGM | c.154T= (p.Tyr52=)
| |
11 | g.64759745A>C | CA381112494 | PYGM | c.154T>G (p.Tyr52Asp)
| dbSNP |
11 | g.64759745A>G | CA381112490 | PYGM | c.154T>C (p.Tyr52His)
| |
11 | g.64759745A>T | CA381112492 | PYGM | c.154T>A (p.Tyr52Asn)
| |
11 | g.64759746G>A | CA475161356 | PYGM | c.153C>T (p.Asp51=)
| |
11 | g.64759746G>C | CA381112495 | PYGM | c.153C>G (p.Asp51Glu)
| |
11 | g.64759746G>T | CA381112497 | PYGM | c.153C>A (p.Asp51Glu)
| |
11 | g.64759747T>A | CA381112502 | PYGM | c.152A>T (p.Asp51Val)
| |
11 | g.64759747T>C | CA261238 | PYGM | c.152A>G (p.Asp51Gly)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759747T>G | CA381112509 | PYGM | c.152A>C (p.Asp51Ala)
| |
11 | g.64759747T= | CA1978929866 | PYGM | c.152A= (p.Asp51=)
| |
11 | g.64759748C>A | CA381112520 | PYGM | c.151G>T (p.Asp51Tyr)
| |
11 | g.64759748C>G | CA381112517 | PYGM | c.151G>C (p.Asp51His)
| |
11 | g.64759748C>T | CA381112514 | PYGM | c.151G>A (p.Asp51Asn)
| |
11 | g.64759748_64759770delinsCTCGTGGGGTGGCCACATTGCGG | CA1978929868 | PYGM | c.129_151delinsCCGCAATGTGGCCACCCCACGAG (p.Asp43=)
| |
11 | g.64759749T>A | CA475161358 | PYGM | c.150A>T (p.Arg50=)
| |
11 | g.64759749T>C | CA223889280 | PYGM | c.150A>G (p.Arg50=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759749T>G | CA475161361 | PYGM | c.150A>C (p.Arg50=)
| |
11 | g.64759749T= | CA1978929873 | PYGM | c.150A= (p.Arg50=)
| |
11 | g.64759751_64759772del | CA916083248 | PYGM | c.129_150del (p.Asp43GlufsTer?)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759750C>A | CA381112522 | PYGM | c.149G>T (p.Arg50Leu)
| |
11 | g.64759750C= | CA1978929878 | PYGM | c.149G= (p.Arg50=)
| |
11 | g.64759750C>G | CA381112524 | PYGM | c.149G>C (p.Arg50Pro)
| |
11 | g.64759750C>T | CA6080358 | PYGM | c.149G>A (p.Arg50Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759751G>A | CA222884 | PYGM | c.148C>T (p.Arg50Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759751G>C | CA381112525 | PYGM | c.148C>G (p.Arg50Gly)
| dbSNP |
11 | g.64759751G= | CA1978929887 | PYGM | c.148C= (p.Arg50=)
| |
11 | g.64759751G>T | CA475161362 | PYGM | c.148C>A (p.Arg50=)
| |
11 | g.64759752T>A | CA475161365 | PYGM | c.147A>T (p.Pro49=)
| |
11 | g.64759752T>C | CA475161364 | PYGM | c.147A>G (p.Pro49=)
| gnomAD v4 |
11 | g.64759752T>G | CA475161363 | PYGM | c.147A>C (p.Pro49=)
| |
11 | g.64759753G>A | CA381112526 | PYGM | c.146C>T (p.Pro49Leu)
| |
11 | g.64759753G>C | CA381112528 | PYGM | c.146C>G (p.Pro49Arg)
| |
11 | g.64759753G= | CA1978929893 | PYGM | c.146C= (p.Pro49=)
| |
11 | g.64759753G>T | CA6080359 | PYGM | c.146C>A (p.Pro49Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759754G>A | CA381112531 | PYGM | c.145C>T (p.Pro49Ser)
| |
11 | g.64759754G>C | CA381112535 | PYGM | c.145C>G (p.Pro49Ala)
| |
11 | g.64759754G= | CA1978929899 | PYGM | c.145C= (p.Pro49=)
| |
11 | g.64759754G>T | CA381112533 | PYGM | c.145C>A (p.Pro49Thr)
| |
11 | g.64759755G>A | CA475161367 | PYGM | c.144C>T (p.Thr48=)
| |
11 | g.64759755G>C | CA475161368 | PYGM | c.144C>G (p.Thr48=)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759755G= | CA1978929901 | PYGM | c.144C= (p.Thr48=)
| |
11 | g.64759755G>T | CA475161370 | PYGM | c.144C>A (p.Thr48=)
| |
11 | g.64759758_64759771dup | CA6080360 | PYGM | c.131_144dup (p.Pro49AlafsTer?)
| dbSNP ExAC gnomAD v2 |
11 | g.64759756G>A | CA381112544 | PYGM | c.143C>T (p.Thr48Ile)
| |
11 | g.64759756G>C | CA381112549 | PYGM | c.143C>G (p.Thr48Ser)
| |
11 | g.64759756G>T | CA381112563 | PYGM | c.143C>A (p.Thr48Asn)
| |
11 | g.64759757T>A | CA381112566 | PYGM | c.142A>T (p.Thr48Ser)
| |
11 | g.64759757T>C | CA381112570 | PYGM | c.142A>G (p.Thr48Ala)
| dbSNP gnomAD v4 |
11 | g.64759757T>G | CA381112568 | PYGM | c.142A>C (p.Thr48Pro)
| |
11 | g.64759757T= | CA1978929906 | PYGM | c.142A= (p.Thr48=)
| |
11 | g.64759758G>A | CA6080361 | PYGM | c.141C>T (p.Ala47=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759758G>C | CA475161374 | PYGM | c.141C>G (p.Ala47=)
| |
11 | g.64759758G= | CA1978929908 | PYGM | c.141C= (p.Ala47=)
| |
11 | g.64759758G>T | CA475161375 | PYGM | c.141C>A (p.Ala47=)
| |
11 | g.64759759dup | CA2574865066 | PYGM | c.141dup (p.Thr48HisfsTer30)
| |
11 | g.64759759del | CA2580084890 | PYGM | c.141del (p.Thr48ProfsTer?)
| ClinVar |
11 | g.64759759G>A | CA381112575 | PYGM | c.140C>T (p.Ala47Val)
| |
11 | g.64759759G>C | CA381112580 | PYGM | c.140C>G (p.Ala47Gly)
| |
11 | g.64759759G>T | CA381112583 | PYGM | c.140C>A (p.Ala47Asp)
| |
11 | g.64759760C>A | CA381112586 | PYGM | c.139G>T (p.Ala47Ser)
| |
11 | g.64759760C= | CA1978929912 | PYGM | c.139G= (p.Ala47=)
| |
11 | g.64759760C>G | CA381112588 | PYGM | c.139G>C (p.Ala47Pro)
| |
11 | g.64759760C>T | CA381112591 | PYGM | c.139G>A (p.Ala47Thr)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759761C>A | CA475161379 | PYGM | c.138G>T (p.Val46=)
| |
11 | g.64759761C= | CA1978929915 | PYGM | c.138G= (p.Val46=)
| |
11 | g.64759761C>G | CA6080363 | PYGM | c.138G>C (p.Val46=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759761C>T | CA6080362 | PYGM | c.138G>A (p.Val46=)
| ClinVar dbSNP ExAC gnomAD v2 |
11 | g.64759762A>C | CA381112607 | PYGM | c.137T>G (p.Val46Gly)
| |
11 | g.64759762A>G | CA381112609 | PYGM | c.137T>C (p.Val46Ala)
| |
11 | g.64759762A>T | CA381112613 | PYGM | c.137T>A (p.Val46Glu)
| |
11 | g.64759763C>A | CA381112620 | PYGM | c.136G>T (p.Val46Leu)
| |
11 | g.64759763C>G | CA381112623 | PYGM | c.136G>C (p.Val46Leu)
| |
11 | g.64759763C>T | CA381112618 | PYGM | c.136G>A (p.Val46Met)
| COSMIC |
11 | g.64759764A= | CA1978929921 | PYGM | c.135T= (p.Asn45=)
| |
11 | g.64759764A>C | CA381112635 | PYGM | c.135T>G (p.Asn45Lys)
| |
11 | g.64759764A>G | CA475161380 | PYGM | c.135T>C (p.Asn45=)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759764A>T | CA381112631 | PYGM | c.135T>A (p.Asn45Lys)
| |
11 | g.64759765T>A | CA381112642 | PYGM | c.134A>T (p.Asn45Ile)
| |
11 | g.64759765T>C | CA6080364 | PYGM | c.134A>G (p.Asn45Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759765T>G | CA381112639 | PYGM | c.134A>C (p.Asn45Thr)
| |
11 | g.64759765T= | CA1978929924 | PYGM | c.134A= (p.Asn45=)
| |
11 | g.64759766del | CA2831038865 | PYGM | c.134del (p.Asn45MetfsTer?)
| |
11 | g.64759766T>A | CA381112646 | PYGM | c.133A>T (p.Asn45Tyr)
| |
11 | g.64759766T>C | CA381112647 | PYGM | c.133A>G (p.Asn45Asp)
| |
11 | g.64759766T>G | CA381112650 | PYGM | c.133A>C (p.Asn45His)
| |
11 | g.64759767_64759771del | CA2695214473 | PYGM | c.129_133del (p.Asp43GlufsTer?)
| |
11 | g.64759767G>A | CA475161382 | PYGM | c.132C>T (p.Arg44=)
| |
11 | g.64759767G>C | CA475161383 | PYGM | c.132C>G (p.Arg44=)
| |
11 | g.64759767G= | CA1978929926 | PYGM | c.132C= (p.Arg44=)
| |
11 | g.64759767G>T | CA475161384 | PYGM | c.132C>A (p.Arg44=)
| dbSNP |
11 | g.64759768C>A | CA381112652 | PYGM | c.131G>T (p.Arg44Leu)
| |
11 | g.64759768C= | CA1978929929 | PYGM | c.131G= (p.Arg44=)
| |
11 | g.64759768C>G | CA381112656 | PYGM | c.131G>C (p.Arg44Pro)
| |
11 | g.64759768C>T | CA6080365 | PYGM | c.131G>A (p.Arg44His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759769G>A | CA6080366 | PYGM | c.130C>T (p.Arg44Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759769G>C | CA381112671 | PYGM | c.130C>G (p.Arg44Gly)
| |
11 | g.64759769G= | CA1978929933 | PYGM | c.130C= (p.Arg44=)
| |
11 | g.64759769G>T | CA381112673 | PYGM | c.130C>A (p.Arg44Ser)
| |
11 | g.64759770G>A | CA475161388 | PYGM | c.129C>T (p.Asp43=)
| |
11 | g.64759770G>C | CA381112678 | PYGM | c.129C>G (p.Asp43Glu)
| |
11 | g.64759770G>T | CA381112680 | PYGM | c.129C>A (p.Asp43Glu)
| |
11 | g.64759771T>A | CA381112683 | PYGM | c.128A>T (p.Asp43Val)
| |
11 | g.64759771T>C | CA381112689 | PYGM | c.128A>G (p.Asp43Gly)
| gnomAD v4 |
11 | g.64759771T>G | CA381112686 | PYGM | c.128A>C (p.Asp43Ala)
| |
11 | g.64759771_64759786del | CA2574865076 | PYGM | c.113_128del (p.Phe38SerfsTer?)
| |
11 | g.64759772C>A | CA381112693 | PYGM | c.127G>T (p.Asp43Tyr)
| |
11 | g.64759772C>G | CA381112698 | PYGM | c.127G>C (p.Asp43His)
| |
11 | g.64759772C>T | CA381112704 | PYGM | c.127G>A (p.Asp43Asn)
| gnomAD v4 |
11 | g.64759773C>A | CA381112706 | PYGM | c.126G>T (p.Lys42Asn)
| |
11 | g.64759773C>G | CA381112709 | PYGM | c.126G>C (p.Lys42Asn)
| |
11 | g.64759773C>T | CA475161391 | PYGM | c.126G>A (p.Lys42=)
| ClinVar |
11 | g.64759774_64759778del | CA2574865078 | PYGM | c.122_126del (p.Val41GlyfsTer?)
| ClinVar gnomAD v4 |
11 | g.64759774T>A | CA381112711 | PYGM | c.125A>T (p.Lys42Met)
| |
11 | g.64759774T>C | CA381112713 | PYGM | c.125A>G (p.Lys42Arg)
| |
11 | g.64759774T>G | CA381112715 | PYGM | c.125A>C (p.Lys42Thr)
| |
11 | g.64759776del | CA2574865079 | PYGM | c.125del (p.Lys42ArgfsTer?)
| ClinVar |
11 | g.64759774_64759783delinsTTTACGAGTG | CA1978929935 | PYGM | c.116_125delinsCACTCGTAAA (p.Thr39=)
| |
11 | g.64759775T>A | CA381112718 | PYGM | c.124A>T (p.Lys42Ter)
| |
11 | g.64759775T>C | CA381112720 | PYGM | c.124A>G (p.Lys42Glu)
| |
11 | g.64759775T>G | CA381112722 | PYGM | c.124A>C (p.Lys42Gln)
| |
11 | g.64759776_64759784del | CA938842249 | PYGM | c.116_124del (p.Thr39_Val41del)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759775_64759776insGG | CA2695214474 | PYGM | c.123_124insCC (p.Lys42ProfsTer?)
| |
11 | g.64759776T>A | CA475161394 | PYGM | c.123A>T (p.Val41=)
| |
11 | g.64759776T>C | CA475161395 | PYGM | c.123A>G (p.Val41=)
| dbSNP |
11 | g.64759776T>G | CA475161396 | PYGM | c.123A>C (p.Val41=)
| |
11 | g.64759776T= | CA1978929939 | PYGM | c.123A= (p.Val41=)
| |
11 | g.64759776_64759787delinsTACGAGTGTGAA | CA1978929938 | PYGM | c.112_123delinsTTCACACTCGTA (p.Phe38=)
| |
11 | g.64759777A>C | CA381112740 | PYGM | c.122T>G (p.Val41Gly)
| |
11 | g.64759777A>G | CA381112730 | PYGM | c.122T>C (p.Val41Ala)
| |
11 | g.64759777A>T | CA381112728 | PYGM | c.122T>A (p.Val41Glu)
| |
11 | g.64759778_64759788del | CA1139662020 | PYGM | c.112_122del (p.Phe38LysfsTer?)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759778C>A | CA381112750 | PYGM | c.121G>T (p.Val41Leu)
| |
11 | g.64759778C= | CA1978929943 | PYGM | c.121G= (p.Val41=)
| |
11 | g.64759778C>G | CA381112745 | PYGM | c.121G>C (p.Val41Leu)
| |
11 | g.64759778C>T | CA6080367 | PYGM | c.121G>A (p.Val41Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.64759778_64759779insT | CA2695198894 | PYGM | c.120_121insA (p.Val41SerfsTer?)
| ClinVar |
11 | g.64759779G>A | CA6080368 | PYGM | c.120C>T (p.Leu40=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759779G>C | CA475161403 | PYGM | c.120C>G (p.Leu40=)
| ClinVar dbSNP |
11 | g.64759779G= | CA1978929946 | PYGM | c.120C= (p.Leu40=)
| |
11 | g.64759779G>T | CA475161401 | PYGM | c.120C>A (p.Leu40=)
| ClinVar |
11 | g.64759780A>C | CA381112754 | PYGM | c.119T>G (p.Leu40Arg)
| |
11 | g.64759780A>G | CA381112755 | PYGM | c.119T>C (p.Leu40Pro)
| |
11 | g.64759780A>T | CA381112757 | PYGM | c.119T>A (p.Leu40His)
| |
11 | g.64759781G>A | CA381112760 | PYGM | c.118C>T (p.Leu40Phe)
| gnomAD v4 |
11 | g.64759781G>C | CA381112763 | PYGM | c.118C>G (p.Leu40Val)
| |
11 | g.64759781G>T | CA381112765 | PYGM | c.118C>A (p.Leu40Ile)
| |
11 | g.64759782T>A | CA475161410 | PYGM | c.117A>T (p.Thr39=)
| |
11 | g.64759782T>C | CA475161408 | PYGM | c.117A>G (p.Thr39=)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759782T>G | CA475161406 | PYGM | c.117A>C (p.Thr39=)
| gnomAD v3 gnomAD v4 |
11 | g.64759783G>A | CA223889352 | PYGM | c.116C>T (p.Thr39Ile)
| dbSNP gnomAD v4 |
11 | g.64759783G>C | CA381112773 | PYGM | c.116C>G (p.Thr39Arg)
| |
11 | g.64759783G= | CA1978929948 | PYGM | c.116C= (p.Thr39=)
| |
11 | g.64759783G>T | CA381112776 | PYGM | c.116C>A (p.Thr39Lys)
| |
11 | g.64759784T>A | CA381112783 | PYGM | c.115A>T (p.Thr39Ser)
| |
11 | g.64759784T>C | CA6080369 | PYGM | c.115A>G (p.Thr39Ala)
| dbSNP ExAC gnomAD v2 |
11 | g.64759784T>G | CA381112780 | PYGM | c.115A>C (p.Thr39Pro)
| |
11 | g.64759784T= | CA1978929951 | PYGM | c.115A= (p.Thr39=)
| |
11 | g.64759785G>A | CA6080370 | PYGM | c.114C>T (p.Phe38=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759785G>C | CA381112790 | PYGM | c.114C>G (p.Phe38Leu)
| |
11 | g.64759785G= | CA1978929953 | PYGM | c.114C= (p.Phe38=)
| |
11 | g.64759785G>T | CA381112794 | PYGM | c.114C>A (p.Phe38Leu)
| |
11 | g.64759786A>C | CA381112797 | PYGM | c.113T>G (p.Phe38Cys)
| |
11 | g.64759786A>G | CA381112799 | PYGM | c.113T>C (p.Phe38Ser)
| |
11 | g.64759786A>T | CA381112800 | PYGM | c.113T>A (p.Phe38Tyr)
| |
11 | g.64759787A= | CA1978929955 | PYGM | c.112T= (p.Phe38=)
| |
11 | g.64759787A>C | CA381112803 | PYGM | c.112T>G (p.Phe38Val)
| |
11 | g.64759787A>G | CA381112808 | PYGM | c.112T>C (p.Phe38Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759787A>T | CA381112806 | PYGM | c.112T>A (p.Phe38Ile)
| |
11 | g.64759788A>C | CA381112812 | PYGM | c.111T>G (p.His37Gln)
| |
11 | g.64759788A>G | CA475161320 | PYGM | c.111T>C (p.His37=)
| ClinVar dbSNP |
11 | g.64759788A>T | CA381112816 | PYGM | c.111T>A (p.His37Gln)
| |
11 | g.64759789T>A | CA381112821 | PYGM | c.110A>T (p.His37Leu)
| |
11 | g.64759789T>C | CA381112828 | PYGM | c.110A>G (p.His37Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.64759789T>G | CA381112831 | PYGM | c.110A>C (p.His37Pro)
| |
11 | g.64759789T= | CA1978929957 | PYGM | c.110A= (p.His37=)
| |
11 | g.64759790G>A | CA381112836 | PYGM | c.109C>T (p.His37Tyr)
| |
11 | g.64759790G>C | CA381112837 | PYGM | c.109C>G (p.His37Asp)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759790G= | CA1978929958 | PYGM | c.109C= (p.His37=)
| |
11 | g.64759790G>T | CA381112834 | PYGM | c.109C>A (p.His37Asn)
| |
11 | g.64759791del | CA2574865090 | PYGM | c.108del (p.His37IlefsTer5)
| ClinVar |
11 | g.64759791C>A | CA475161323 | PYGM | c.108G>T (p.Leu36=)
| dbSNP gnomAD v4 |
11 | g.64759791C= | CA1978929960 | PYGM | c.108G= (p.Leu36=)
| |
11 | g.64759791C>G | CA475161324 | PYGM | c.108G>C (p.Leu36=)
| |
11 | g.64759791C>T | CA475161326 | PYGM | c.108G>A (p.Leu36=)
| |
11 | g.64759792A= | CA1978929963 | PYGM | c.107T= (p.Leu36=)
| |
11 | g.64759792A>C | CA381112838 | PYGM | c.107T>G (p.Leu36Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759792A>G | CA381112843 | PYGM | c.107T>C (p.Leu36Pro)
| gnomAD v4 |
11 | g.64759792A>T | CA381112840 | PYGM | c.107T>A (p.Leu36Gln)
| |
11 | g.64759793G>A | CA475161328 | PYGM | c.106C>T (p.Leu36=)
| ClinVar |
11 | g.64759793G>C | CA381112844 | PYGM | c.106C>G (p.Leu36Val)
| |
11 | g.64759793G>T | CA381112847 | PYGM | c.106C>A (p.Leu36Met)
| |
11 | g.64759794G>A | CA475161332 | PYGM | c.105C>T (p.His35=)
| ClinVar |
11 | g.64759794G>C | CA381112853 | PYGM | c.105C>G (p.His35Gln)
| |
11 | g.64759794G= | CA1978929965 | PYGM | c.105C= (p.His35=)
| |
11 | g.64759794G>T | CA381112854 | PYGM | c.105C>A (p.His35Gln)
| dbSNP |
11 | g.64759795T>A | CA381112855 | PYGM | c.104A>T (p.His35Leu)
| |
11 | g.64759795T>C | CA381112856 | PYGM | c.104A>G (p.His35Arg)
| |
11 | g.64759795T>G | CA381112857 | PYGM | c.104A>C (p.His35Pro)
| |
11 | g.64759796G>A | CA381112859 | PYGM | c.103C>T (p.His35Tyr)
| dbSNP |
11 | g.64759796G>C | CA381112862 | PYGM | c.103C>G (p.His35Asp)
| |
11 | g.64759796G= | CA1978929967 | PYGM | c.103C= (p.His35=)
| |
11 | g.64759796G>T | CA381112865 | PYGM | c.103C>A (p.His35Asn)
| |
11 | g.64759797C>A | CA475161336 | PYGM | c.102G>T (p.Arg34=)
| |
11 | g.64759797C>G | CA475161337 | PYGM | c.102G>C (p.Arg34=)
| |
11 | g.64759797C>T | CA475161338 | PYGM | c.102G>A (p.Arg34=)
| |
11 | g.64759798C>A | CA381112873 | PYGM | c.101G>T (p.Arg34Leu)
| gnomAD v4 |
11 | g.64759798C= | CA1978929969 | PYGM | c.101G= (p.Arg34=)
| |
11 | g.64759798C>G | CA381112870 | PYGM | c.101G>C (p.Arg34Pro)
| |
11 | g.64759798C>T | CA6080371 | PYGM | c.101G>A (p.Arg34Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759798_64759800del | CA2614191921 | PYGM | c.99_101del (p.Asn33_Arg34delinsLys)
| gnomAD v4 |
11 | g.64759799G>A | CA6080372 | PYGM | c.100C>T (p.Arg34Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759799G>C | CA381112879 | PYGM | c.100C>G (p.Arg34Gly)
| |
11 | g.64759799G= | CA1978929972 | PYGM | c.100C= (p.Arg34=)
| |
11 | g.64759799G>T | CA475161342 | PYGM | c.100C>A (p.Arg34=)
| ClinVar dbSNP gnomAD v4 |
11 | g.64759800G>A | CA475161345 | PYGM | c.99C>T (p.Asn33=)
| |
11 | g.64759800G>C | CA381112886 | PYGM | c.99C>G (p.Asn33Lys)
| ClinVar |
11 | g.64759800G>T | CA381112889 | PYGM | c.99C>A (p.Asn33Lys)
| |
11 | g.64759801T>A | CA381112891 | PYGM | c.98A>T (p.Asn33Ile)
| |
11 | g.64759801T>C | CA10638975 | PYGM | c.98A>G (p.Asn33Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759801T>G | CA381112895 | PYGM | c.98A>C (p.Asn33Thr)
| |
11 | g.64759801T= | CA1978929975 | PYGM | c.98A= (p.Asn33=)
| |
11 | g.64759802T>A | CA381112896 | PYGM | c.97A>T (p.Asn33Tyr)
| |
11 | g.64759802T>C | CA381112897 | PYGM | c.97A>G (p.Asn33Asp)
| |
11 | g.64759802T>G | CA381112898 | PYGM | c.97A>C (p.Asn33His)
| |
11 | g.64759803G>A | CA475161347 | PYGM | c.96C>T (p.Phe32=)
| ClinVar |
11 | g.64759803G>C | CA381112899 | PYGM | c.96C>G (p.Phe32Leu)
| |
11 | g.64759803G>T | CA381112900 | PYGM | c.96C>A (p.Phe32Leu)
| |
11 | g.64759804A>C | CA381112903 | PYGM | c.95T>G (p.Phe32Cys)
| |
11 | g.64759804A>G | CA381112904 | PYGM | c.95T>C (p.Phe32Ser)
| |
11 | g.64759804A>T | CA381112901 | PYGM | c.95T>A (p.Phe32Tyr)
| |
11 | g.64759805A>C | CA381112905 | PYGM | c.94T>G (p.Phe32Val)
| |
11 | g.64759805A>G | CA381112907 | PYGM | c.94T>C (p.Phe32Leu)
| gnomAD v4 |
11 | g.64759805A>T | CA381112911 | PYGM | c.94T>A (p.Phe32Ile)
| |
11 | g.64759806G>A | CA475161351 | PYGM | c.93C>T (p.Asn31=)
| |
11 | g.64759806G>C | CA381112913 | PYGM | c.93C>G (p.Asn31Lys)
| |
11 | g.64759806G>T | CA381112915 | PYGM | c.93C>A (p.Asn31Lys)
| |
11 | g.64759807T>A | CA381112920 | PYGM | c.92A>T (p.Asn31Ile)
| |
11 | g.64759807T>C | CA381112924 | PYGM | c.92A>G (p.Asn31Ser)
| |
11 | g.64759807T>G | CA381112926 | PYGM | c.92A>C (p.Asn31Thr)
| |
11 | g.64759808T>A | CA381112930 | PYGM | c.91A>T (p.Asn31Tyr)
| |
11 | g.64759808T>C | CA381112934 | PYGM | c.91A>G (p.Asn31Asp)
| |
11 | g.64759808T>G | CA381112936 | PYGM | c.91A>C (p.Asn31His)
| |
11 | g.64759809C>A | CA381112942 | PYGM | c.90G>T (p.Lys30Asn)
| gnomAD v4 |
11 | g.64759809C>G | CA381112944 | PYGM | c.90G>C (p.Lys30Asn)
| |
11 | g.64759809C>T | CA475161353 | PYGM | c.90G>A (p.Lys30=)
| gnomAD v4 |
11 | g.64759810T>A | CA381112954 | PYGM | c.89A>T (p.Lys30Met)
| |
11 | g.64759810T>C | CA6080373 | PYGM | c.89A>G (p.Lys30Arg)
| dbSNP ExAC gnomAD v2 |
11 | g.64759810T>G | CA381112948 | PYGM | c.89A>C (p.Lys30Thr)
| |
11 | g.64759810T= | CA1978929977 | PYGM | c.89A= (p.Lys30=)
| |
11 | g.64759811T>A | CA381112956 | PYGM | c.88A>T (p.Lys30Ter)
| |
11 | g.64759811T>C | CA381112958 | PYGM | c.88A>G (p.Lys30Glu)
| |
11 | g.64759811T>G | CA381112961 | PYGM | c.88A>C (p.Lys30Gln)
| |
11 | g.64759812T>A | CA381112962 | PYGM | c.87A>T (p.Lys29Asn)
| |
11 | g.64759812T>C | CA475161355 | PYGM | c.87A>G (p.Lys29=)
| |
11 | g.64759812T>G | CA381112963 | PYGM | c.87A>C (p.Lys29Asn)
| |
11 | g.64759813T>A | CA381112964 | PYGM | c.86A>T (p.Lys29Ile)
| |
11 | g.64759813T>C | CA381112965 | PYGM | c.86A>G (p.Lys29Arg)
| gnomAD v3 gnomAD v4 |
11 | g.64759813T>G | CA381112966 | PYGM | c.86A>C (p.Lys29Thr)
| |
11 | g.64759814T>A | CA381112970 | PYGM | c.85A>T (p.Lys29Ter)
| |
11 | g.64759814T>C | CA381112973 | PYGM | c.85A>G (p.Lys29Glu)
| |
11 | g.64759814T>G | CA381112975 | PYGM | c.85A>C (p.Lys29Gln)
| |
11 | g.64759815C>A | CA475161357 | PYGM | c.84G>T (p.Leu28=)
| |
11 | g.64759815C= | CA1978929981 | PYGM | c.84G= (p.Leu28=)
| |
11 | g.64759815C>G | CA475161359 | PYGM | c.84G>C (p.Leu28=)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.64759815C>T | CA6080374 | PYGM | c.84G>A (p.Leu28=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759816A>C | CA381112984 | PYGM | c.83T>G (p.Leu28Arg)
| |
11 | g.64759816A>G | CA381112980 | PYGM | c.83T>C (p.Leu28Pro)
| gnomAD v4 |
11 | g.64759816A>T | CA381112979 | PYGM | c.83T>A (p.Leu28Gln)
| |
11 | g.64759817G>A | CA475161366 | PYGM | c.82C>T (p.Leu28=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759817G>C | CA381112987 | PYGM | c.82C>G (p.Leu28Val)
| dbSNP gnomAD v4 |
11 | g.64759817G= | CA1978929984 | PYGM | c.82C= (p.Leu28=)
| |
11 | g.64759817G>T | CA381112990 | PYGM | c.82C>A (p.Leu28Met)
| dbSNP gnomAD v4 |
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=)
| |