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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64759581_64759602delinsCCACTTAAGTCAAGATCGCCAG | CA1978929498 | PYGM | c.243+54_243+75delinsCTGGCGATCTTGACTTAAGTGG (n.243+54_243+75delinsCTGGCGATCTTGACTTAAGTGG) | |
| 11 | g.64759583_64759603del | CA679277676 | PYGM | c.243+54_243+74del (n.243+54_243+74del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759598G>A | CA1978929522 | PYGM | c.243+58C>T (n.243+58C>T) | dbSNP gnomAD v4 |
| 11 | g.64759598G= | CA1978929520 | PYGM | c.243+58C= (n.243+58C=) | |
| 11 | g.64759598G>T | CA2614191625 | PYGM | c.243+58C>A (n.243+58C>A) | gnomAD v4 |
| 11 | g.64759599C>A | CA2614191626 | PYGM | c.243+57G>T (n.243+57G>T) | gnomAD v4 |
| 11 | g.64759600C>T | CA2840305689 | PYGM | c.243+56G>A (n.243+56G>A) | |
| 11 | g.64759602G>A | CA2614191627 | PYGM | c.243+54C>T (n.243+54C>T) | gnomAD v4 |
| 11 | g.64759602G>C | CA599803657 | PYGM | c.243+54C>G (n.243+54C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759602G= | CA1978929526 | PYGM | c.243+54C= (n.243+54C=) | |
| 11 | g.64759602G>T | CA2840305690 | PYGM | c.243+54C>A (n.243+54C>A) | |
| 11 | g.64759603C>A | CA679277694 | PYGM | c.243+53G>T (n.243+53G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759603C= | CA1978929529 | PYGM | c.243+53G= (n.243+53G=) | |
| 11 | g.64759604T>C | CA223889136 | PYGM | c.243+52A>G (n.243+52A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759604T= | CA1978929531 | PYGM | c.243+52A= (n.243+52A=) | |
| 11 | g.64759605C= | CA1978929535 | PYGM | c.243+51G= (n.243+51G=) | |
| 11 | g.64759605C>T | CA599803658 | PYGM | c.243+51G>A (n.243+51G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759606C>A | CA599803659 | PYGM | c.243+50G>T (n.243+50G>T) | dbSNP gnomAD v2 |
| 11 | g.64759606C= | CA1978929538 | PYGM | c.243+50G= (n.243+50G=) | |
| 11 | g.64759607C= | CA1978929542 | PYGM | c.243+49G= (n.243+49G=) | |
| 11 | g.64759607C>T | CA6080328 | PYGM | c.243+49G>A (n.243+49G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759608T>A | CA2581025199 | PYGM | c.243+48A>T (n.243+48A>T) | |
| 11 | g.64759608T>C | CA6080329 | PYGM | c.243+48A>G (n.243+48A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759608T>G | CA2581025198 | PYGM | c.243+48A>C (n.243+48A>C) | |
| 11 | g.64759608T= | CA1978929547 | PYGM | c.243+48A= (n.243+48A=) | |
| 11 | g.64759609G>A | CA223889154 | PYGM | c.243+47C>T (n.243+47C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.64759609G= | CA1978929552 | PYGM | c.243+47C= (n.243+47C=) | |
| 11 | g.64759609G>T | CA599803660 | PYGM | c.243+47C>A (n.243+47C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759610dup | CA2614191635 | PYGM | c.243+47dup (n.243+47dup) | gnomAD v4 |
| 11 | g.64759610G>A | CA2614191639 | PYGM | c.243+46C>T (n.243+46C>T) | gnomAD v4 |
| 11 | g.64759610G>C | CA2840305691 | PYGM | c.243+46C>G (n.243+46C>G) | |
| 11 | g.64759612A>G | CA2840305692 | PYGM | c.243+44T>C (n.243+44T>C) | |
| 11 | g.64759613G>A | CA2614191641 | PYGM | c.243+43C>T (n.243+43C>T) | gnomAD v4 |
| 11 | g.64759614C= | CA1978929557 | PYGM | c.243+42G= (n.243+42G=) | |
| 11 | g.64759614C>T | CA6080330 | PYGM | c.243+42G>A (n.243+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759615G>A | CA599803661 | PYGM | c.243+41C>T (n.243+41C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759615G>C | CA2792428932 | PYGM | c.243+41C>G (n.243+41C>G) | |
| 11 | g.64759615G= | CA1978929560 | PYGM | c.243+41C= (n.243+41C=) | |
| 11 | g.64759615G>T | CA2614191643 | PYGM | c.243+41C>A (n.243+41C>A) | gnomAD v4 |
| 11 | g.64759616C= | CA1978929562 | PYGM | c.243+40G= (n.243+40G=) | |
| 11 | g.64759616C>T | CA6080331 | PYGM | c.243+40G>A (n.243+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759620C>T | CA2614191645 | PYGM | c.243+36G>A (n.243+36G>A) | gnomAD v4 |
| 11 | g.64759622G>A | CA1978929565 | PYGM | c.243+34C>T (n.243+34C>T) | dbSNP |
| 11 | g.64759622G= | CA1978929564 | PYGM | c.243+34C= (n.243+34C=) | |
| 11 | g.64759622G>T | CA2614191647 | PYGM | c.243+34C>A (n.243+34C>A) | gnomAD v4 |
| 11 | g.64759623C>A | CA599803662 | PYGM | c.243+33G>T (n.243+33G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759623C= | CA1978929567 | PYGM | c.243+33G= (n.243+33G=) | |
| 11 | g.64759623C>T | CA2574865030 | PYGM | c.243+33G>A (n.243+33G>A) | |
| 11 | g.64759625dup | CA2614191648 | PYGM | c.243+33dup (n.243+33dup) | gnomAD v4 |
| 11 | g.64759624C= | CA1978929568 | PYGM | c.243+32G= (n.243+32G=) | |
| 11 | g.64759624C>T | CA679277725 | PYGM | c.243+32G>A (n.243+32G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759625C>T | CA2614191651 | PYGM | c.243+31G>A (n.243+31G>A) | gnomAD v4 |
| 11 | g.64759626A= | CA1978929571 | PYGM | c.243+30T= (n.243+30T=) | |
| 11 | g.64759626A>T | CA6080332 | PYGM | c.243+30T>A (n.243+30T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759627T>C | CA599803663 | PYGM | c.243+29A>G (n.243+29A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759627T= | CA1978929574 | PYGM | c.243+29A= (n.243+29A=) | |
| 11 | g.64759628A= | CA1978929576 | PYGM | c.243+28T= (n.243+28T=) | |
| 11 | g.64759628A>C | CA1978929577 | PYGM | c.243+28T>G (n.243+28T>G) | dbSNP |
| 11 | g.64759629C>A | CA679277743 | PYGM | c.243+27G>T (n.243+27G>T) | dbSNP gnomAD v4 |
| 11 | g.64759629C= | CA1978929581 | PYGM | c.243+27G= (n.243+27G=) | |
| 11 | g.64759629C>T | CA679277744 | PYGM | c.243+27G>A (n.243+27G>A) | dbSNP |
| 11 | g.64759630C>A | CA2563487690 | PYGM | c.243+26G>T (n.243+26G>T) | |
| 11 | g.64759630C= | CA1978929583 | PYGM | c.243+26G= (n.243+26G=) | |
| 11 | g.64759630C>G | CA599803664 | PYGM | c.243+26G>C (n.243+26G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759630C>T | CA2614191664 | PYGM | c.243+26G>A (n.243+26G>A) | gnomAD v4 |
| 11 | g.64759631C>A | CA2838639480 | PYGM | c.243+25G>T (n.243+25G>T) | |
| 11 | g.64759632C>T | CA2614191665 | PYGM | c.243+24G>A (n.243+24G>A) | gnomAD v4 |
| 11 | g.64759633C>A | CA2840305693 | PYGM | c.243+23G>T (n.243+23G>T) | |
| 11 | g.64759633C= | CA1978929586 | PYGM | c.243+23G= (n.243+23G=) | |
| 11 | g.64759633C>G | CA599803665 | PYGM | c.243+23G>C (n.243+23G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759633C>T | CA6080333 | PYGM | c.243+23G>A (n.243+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759634A= | CA1978929587 | PYGM | c.243+22T= (n.243+22T=) | |
| 11 | g.64759634A>C | CA1978929588 | PYGM | c.243+22T>G (n.243+22T>G) | dbSNP |
| 11 | g.64759634A>T | CA2792428933 | PYGM | c.243+22T>A (n.243+22T>A) | |
| 11 | g.64759635C>A | CA2614191668 | PYGM | c.243+21G>T (n.243+21G>T) | gnomAD v4 |
| 11 | g.64759635C>T | CA2614191669 | PYGM | c.243+21G>A (n.243+21G>A) | gnomAD v4 |
| 11 | g.64759636C>A | CA2614191672 | PYGM | c.243+20G>T (n.243+20G>T) | gnomAD v4 |
| 11 | g.64759636C>T | CA2574865031 | PYGM | c.243+20G>A (n.243+20G>A) | gnomAD v4 |
| 11 | g.64759637C>A | CA2839789257 | PYGM | c.243+19G>T (n.243+19G>T) | |
| 11 | g.64759638C= | CA1978929590 | PYGM | c.243+18G= (n.243+18G=) | |
| 11 | g.64759638C>G | CA599803666 | PYGM | c.243+18G>C (n.243+18G>C) | ClinVar dbSNP gnomAD v2 |
| 11 | g.64759638C>T | CA6080334 | PYGM | c.243+18G>A (n.243+18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759639A>G | CA2537375973 | PYGM | c.243+17T>C (n.243+17T>C) | gnomAD v4 |
| 11 | g.64759640G>A | CA6080335 | PYGM | c.243+16C>T (n.243+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759640G= | CA1978929593 | PYGM | c.243+16C= (n.243+16C=) | |
| 11 | g.64759640G>T | CA2614191678 | PYGM | c.243+16C>A (n.243+16C>A) | gnomAD v4 |
| 11 | g.64759641G>A | CA2614191680 | PYGM | c.243+15C>T (n.243+15C>T) | gnomAD v4 |
| 11 | g.64759641_64759642delinsGC | CA1978929594 | PYGM | c.243+14_243+15delinsGC (n.243+14_243+15delinsGC) | |
| 11 | g.64759642del | CA1978929595 | PYGM | c.243+14del (n.243+14del) | dbSNP |
| 11 | g.64759642C>A | CA2574865033 | PYGM | c.243+14G>T (n.243+14G>T) | ClinVar gnomAD v4 |
| 11 | g.64759642C= | CA1978929596 | PYGM | c.243+14G= (n.243+14G=) | |
| 11 | g.64759642C>G | CA1978929597 | PYGM | c.243+14G>C (n.243+14G>C) | dbSNP |
| 11 | g.64759642C>T | CA2574865032 | PYGM | c.243+14G>A (n.243+14G>A) | ClinVar gnomAD v4 |
| 11 | g.64759643T>G | CA2739270517 | PYGM | c.243+13A>C (n.243+13A>C) | ClinVar |
| 11 | g.64759644C>A | CA2838639474 | PYGM | c.243+12G>T (n.243+12G>T) | |
| 11 | g.64759645C= | CA1978929599 | PYGM | c.243+11G= (n.243+11G=) | |
| 11 | g.64759645C>T | CA599803667 | PYGM | c.243+11G>A (n.243+11G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759646C>A | CA2839789258 | PYGM | c.243+10G>T (n.243+10G>T) | |
| 11 | g.64759646C= | CA1978929603 | PYGM | c.243+10G= (n.243+10G=) | |
| 11 | g.64759646C>T | CA599803668 | PYGM | c.243+10G>A (n.243+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759647C>A | CA2840305694 | PYGM | c.243+9G>T (n.243+9G>T) | |
| 11 | g.64759647C= | CA1978929607 | PYGM | c.243+9G= (n.243+9G=) | |
| 11 | g.64759647C>T | CA6080336 | PYGM | c.243+9G>A (n.243+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759648A>G | CA2739270518 | PYGM | c.243+8T>C (n.243+8T>C) | ClinVar |
| 11 | g.64759648_64759649del | CA2840305695 | PYGM | c.243+7_243+8del (n.243+7_243+8del) | |
| 11 | g.64759649G>A | CA938842114 | PYGM | c.243+7C>T (n.243+7C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759649G= | CA1978929609 | PYGM | c.243+7C= (n.243+7C=) | |
| 11 | g.64759650C>A | CA6080337 | PYGM | c.243+6G>T (n.243+6G>T) | dbSNP ExAC gnomAD v2 |
| 11 | g.64759650C= | CA1978929610 | PYGM | c.243+6G= (n.243+6G=) | |
| 11 | g.64759650C>T | CA223889189 | PYGM | c.243+6G>A (n.243+6G>A) | dbSNP gnomAD v4 |
| 11 | g.64759652G>A | CA938842116 | PYGM | c.243+4C>T (n.243+4C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759652G= | CA1978929613 | PYGM | c.243+4C= (n.243+4C=) | |
| 11 | g.64759654A>C | CA381111745 | PYGM | c.243+2T>G (n.243+2T>G) | |
| 11 | g.64759654A>G | CA381111759 | PYGM | c.243+2T>C (n.243+2T>C) | |
| 11 | g.64759654A>T | CA381111765 | PYGM | c.243+2T>A (n.243+2T>A) | |
| 11 | g.64759655C>A | CA381111766 | PYGM | c.243+1G>T (n.243+1G>T) | |
| 11 | g.64759655C= | CA1978929614 | PYGM | c.243+1G= (n.243+1G=) | |
| 11 | g.64759655C>G | CA381111767 | PYGM | c.243+1G>C (n.243+1G>C) | |
| 11 | g.64759655C>T | CA381111768 | PYGM | c.243+1G>A (n.243+1G>A) | gnomAD v4 |
| 11 | g.64759655_64759656insTA | CA1978929618 | PYGM | c.243_243+1insTA (n.243_243+1insTA) | dbSNP |
| 11 | g.64759656C>A | CA381111772 | PYGM | c.243G>T (p.Lys81Asn) | dbSNP |
| 11 | g.64759656C= | CA1978929617 | PYGM | c.243G= (p.Lys81=) | |
| 11 | g.64759656C>G | CA381111773 | PYGM | c.243G>C (p.Lys81Asn) | |
| 11 | g.64759656C>T | CA475161227 | PYGM | c.243G>A (p.Lys81=) | dbSNP gnomAD v4 |
| 11 | g.64759657T>A | CA381111783 | PYGM | c.242A>T (p.Lys81Met) | |
| 11 | g.64759657T>C | CA6080338 | PYGM | c.242A>G (p.Lys81Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64759657T>G | CA381111777 | PYGM | c.242A>C (p.Lys81Thr) | |
| 11 | g.64759657T= | CA1978929621 | PYGM | c.242A= (p.Lys81=) | |
| 11 | g.64759657_64759658insA | CA1978929626 | PYGM | c.241_242insT (p.Lys81IlefsTer30) c.241_242insT (p.Lys81IlefsTer14) | dbSNP |
| 11 | g.64759658T>A | CA381111796 | PYGM | c.241A>T (p.Lys81Ter) | |
| 11 | g.64759658T>C | CA381111802 | PYGM | c.241A>G (p.Lys81Glu) | |
| 11 | g.64759658T>G | CA381111799 | PYGM | c.241A>C (p.Lys81Gln) | |
| 11 | g.64759659G>A | CA475161235 | PYGM | c.240C>T (p.Pro80=) | |
| 11 | g.64759659G>C | CA475161237 | PYGM | c.240C>G (p.Pro80=) | |
| 11 | g.64759659G= | CA1978929628 | PYGM | c.240C= (p.Pro80=) | |
| 11 | g.64759659G>T | CA475161236 | PYGM | c.240C>A (p.Pro80=) | |
| 11 | g.64759662del | CA2840305696 | PYGM | c.240del (p.Lys81ArgfsTer8) c.240del (p.Lys81ArgfsTer?) | |
| 11 | g.64759659_64759660insA | CA1978929632 | PYGM | c.239_240insT (p.Lys81GlnfsTer30) c.239_240insT (p.Lys81GlnfsTer14) | dbSNP |
| 11 | g.64759660G>A | CA381111808 | PYGM | c.239C>T (p.Pro80Leu) | |
| 11 | g.64759660G>C | CA381111814 | PYGM | c.239C>G (p.Pro80Arg) | |
| 11 | g.64759660G= | CA1978929633 | PYGM | c.239C= (p.Pro80=) | |
| 11 | g.64759660G>T | CA381111812 | PYGM | c.239C>A (p.Pro80His) | |
| 11 | g.64759660_64759661insAA | CA1978929636 | PYGM | c.238_239insTT (p.Pro80LeufsTer10) c.238_239insTT (p.Pro80LeufsTer?) | dbSNP |
| 11 | g.64759661G>A | CA381111817 | PYGM | c.238C>T (p.Pro80Ser) | |
| 11 | g.64759661G>C | CA381111841 | PYGM | c.238C>G (p.Pro80Ala) | |
| 11 | g.64759661G>T | CA381111838 | PYGM | c.238C>A (p.Pro80Thr) | gnomAD v4 |
| 11 | g.64759662G>A | CA475161244 | PYGM | c.237C>T (p.Asp79=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759662G>C | CA381111845 | PYGM | c.237C>G (p.Asp79Glu) | |
| 11 | g.64759662G= | CA1978929638 | PYGM | c.237C= (p.Asp79=) | |
| 11 | g.64759662G>T | CA381111850 | PYGM | c.237C>A (p.Asp79Glu) | dbSNP |
| 11 | g.64759663T>A | CA381111859 | PYGM | c.236A>T (p.Asp79Val) | dbSNP |
| 11 | g.64759663T>C | CA381111860 | PYGM | c.236A>G (p.Asp79Gly) | |
| 11 | g.64759663T>G | CA381111863 | PYGM | c.236A>C (p.Asp79Ala) | |
| 11 | g.64759663T= | CA1978929642 | PYGM | c.236A= (p.Asp79=) | |
| 11 | g.64759664C>A | CA223889195 | PYGM | c.235G>T (p.Asp79Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759664C= | CA1978929645 | PYGM | c.235G= (p.Asp79=) | |
| 11 | g.64759664C>G | CA381111866 | PYGM | c.235G>C (p.Asp79His) | |
| 11 | g.64759664C>T | CA381111869 | PYGM | c.235G>A (p.Asp79Asn) | |
| 11 | g.64759665C>A | CA381111875 | PYGM | c.234G>T (p.Lys78Asn) | |
| 11 | g.64759665C>G | CA381111878 | PYGM | c.234G>C (p.Lys78Asn) | gnomAD v4 |
| 11 | g.64759665C>T | CA475161248 | PYGM | c.234G>A (p.Lys78=) | |
| 11 | g.64759665_64759667delinsCTT | CA1978929647 | PYGM | c.232_234delinsAAG (p.Lys78=) | |
| 11 | g.64759667_64759669del | CA2614191695 | PYGM | c.232_234del (p.Lys78del) | gnomAD v4 |
| 11 | g.64759666T>A | CA381111880 | PYGM | c.233A>T (p.Lys78Met) | |
| 11 | g.64759666T>C | CA381111881 | PYGM | c.233A>G (p.Lys78Arg) | |
| 11 | g.64759666T>G | CA381111882 | PYGM | c.233A>C (p.Lys78Thr) | |
| 11 | g.64759666_64759667del | CA1978929650 | PYGM | c.232_233del (p.Lys78GlyfsTer?) c.232_233del (p.Lys78GlyfsTer16) | dbSNP |
| 11 | g.64759667T>A | CA381111890 | PYGM | c.232A>T (p.Lys78Ter) | gnomAD v4 |
| 11 | g.64759667T>C | CA381111884 | PYGM | c.232A>G (p.Lys78Glu) | |
| 11 | g.64759667T>G | CA381111888 | PYGM | c.232A>C (p.Lys78Gln) | |
| 11 | g.64759668C>A | CA381111893 | PYGM | c.231G>T (p.Glu77Asp) | |
| 11 | g.64759668C>G | CA381111898 | PYGM | c.231G>C (p.Glu77Asp) | |
| 11 | g.64759668C>T | CA475161250 | PYGM | c.231G>A (p.Glu77=) | |
| 11 | g.64759668_64759669delinsCT | CA1978929653 | PYGM | c.230_231delinsAG (p.Glu77=) | |
| 11 | g.64759669del | CA1978929655 | PYGM | c.230del (p.Glu77GlyfsTer12) c.230del (p.Glu77GlyfsTer?) | dbSNP |
| 11 | g.64759669T>A | CA381111900 | PYGM | c.230A>T (p.Glu77Val) | |
| 11 | g.64759669T>C | CA381111903 | PYGM | c.230A>G (p.Glu77Gly) | |
| 11 | g.64759669T>G | CA381111906 | PYGM | c.230A>C (p.Glu77Ala) | |
| 11 | g.64759670C>A | CA381111908 | PYGM | c.229G>T (p.Glu77Ter) | |
| 11 | g.64759670C>G | CA381111910 | PYGM | c.229G>C (p.Glu77Gln) | |
| 11 | g.64759670C>T | CA381111911 | PYGM | c.229G>A (p.Glu77Lys) | |
| 11 | g.64759671A>C | CA381111912 | PYGM | c.228T>G (p.Tyr76Ter) | |
| 11 | g.64759671A>G | CA475161251 | PYGM | c.228T>C (p.Tyr76=) | gnomAD v4 |
| 11 | g.64759671A>T | CA381111913 | PYGM | c.228T>A (p.Tyr76Ter) | ClinVar gnomAD v4 |
| 11 | g.64759671_64759672delinsAT | CA1978929658 | PYGM | c.227_228delinsAT (p.Tyr76=) | |
| 11 | g.64759672del | CA1978929660 | PYGM | c.227del (p.Tyr76LeufsTer13) c.227del (p.Tyr76LeufsTer?) | dbSNP |
| 11 | g.64759672T>A | CA381111915 | PYGM | c.227A>T (p.Tyr76Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759672T>C | CA381111916 | PYGM | c.227A>G (p.Tyr76Cys) | gnomAD v4 |
| 11 | g.64759672T>G | CA381111914 | PYGM | c.227A>C (p.Tyr76Ser) | |
| 11 | g.64759672T= | CA1978929662 | PYGM | c.227A= (p.Tyr76=) | |
| 11 | g.64759676_64759678del | CA2614191700 | PYGM | c.225_227del (p.Tyr76del) | gnomAD v4 |
| 11 | g.64759673A>C | CA381111922 | PYGM | c.226T>G (p.Tyr76Asp) | |
| 11 | g.64759673A>G | CA381111925 | PYGM | c.226T>C (p.Tyr76His) | |
| 11 | g.64759673A>T | CA381111928 | PYGM | c.226T>A (p.Tyr76Asn) | |
| 11 | g.64759674G>A | CA475161254 | PYGM | c.225C>T (p.Tyr75=) | |
| 11 | g.64759674G>C | CA381111931 | PYGM | c.225C>G (p.Tyr75Ter) | |
| 11 | g.64759674G= | CA1978929670 | PYGM | c.225C= (p.Tyr75=) | |
| 11 | g.64759674G>T | CA6080339 | PYGM | c.225C>A (p.Tyr75Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759674_64759676delinsGTA | CA1978929668 | PYGM | c.223_225delinsTAC (p.Tyr75=) | |
| 11 | g.64759675T>A | CA381111945 | PYGM | c.224A>T (p.Tyr75Phe) | ClinVar gnomAD v4 |
| 11 | g.64759675T>C | CA381111939 | PYGM | c.224A>G (p.Tyr75Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759675T>G | CA381111940 | PYGM | c.224A>C (p.Tyr75Ser) | |
| 11 | g.64759675T= | CA1978929673 | PYGM | c.224A= (p.Tyr75=) | |
| 11 | g.64759675_64759676del | CA1978929671 | PYGM | c.223_224del (p.Tyr75LeufsTer2) | dbSNP |
| 11 | g.64759676A= | CA1978929674 | PYGM | c.223T= (p.Tyr75=) | |
| 11 | g.64759676A>C | CA381111948 | PYGM | c.223T>G (p.Tyr75Asp) | |
| 11 | g.64759676A>G | CA381111949 | PYGM | c.223T>C (p.Tyr75His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759676A>T | CA381111953 | PYGM | c.223T>A (p.Tyr75Asn) | |
| 11 | g.64759677G>A | CA475161259 | PYGM | c.222C>T (p.His74=) | |
| 11 | g.64759677G>C | CA381111955 | PYGM | c.222C>G (p.His74Gln) | ClinVar |
| 11 | g.64759677G>T | CA381111964 | PYGM | c.222C>A (p.His74Gln) | |
| 11 | g.64759678T>A | CA381111968 | PYGM | c.221A>T (p.His74Leu) | |
| 11 | g.64759678T>C | CA381111974 | PYGM | c.221A>G (p.His74Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759678T>G | CA381111973 | PYGM | c.221A>C (p.His74Pro) | |
| 11 | g.64759678T= | CA1978929676 | PYGM | c.221A= (p.His74=) | |
| 11 | g.64759678_64759680delinsTGC | CA1978929678 | PYGM | c.219_221delinsGCA (p.Gln73=) | |
| 11 | g.64759684_64759686del | CA912972829 | PYGM | c.219_221del (p.Gln73del) | |
| 11 | g.64759679G>A | CA381111977 | PYGM | c.220C>T (p.His74Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759679G>C | CA381111979 | PYGM | c.220C>G (p.His74Asp) | |
| 11 | g.64759679G= | CA1978929683 | PYGM | c.220C= (p.His74=) | |
| 11 | g.64759679G>T | CA381111982 | PYGM | c.220C>A (p.His74Asn) | |
| 11 | g.64759679_64759680del | CA658822242 | PYGM | c.219_220del (p.His74LeufsTer3) | ClinVar dbSNP |
| 11 | g.64759680C>A | CA381111985 | PYGM | c.219G>T (p.Gln73His) | |
| 11 | g.64759680C= | CA1978929687 | PYGM | c.219G= (p.Gln73=) | |
| 11 | g.64759680C>G | CA381111987 | PYGM | c.219G>C (p.Gln73His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64759680C>T | CA475161263 | PYGM | c.219G>A (p.Gln73=) | |
| 11 | g.64759681T>A | CA381111993 | PYGM | c.218A>T (p.Gln73Leu) | |
| 11 | g.64759681T>C | CA6080340 | PYGM | c.218A>G (p.Gln73Arg) | dbSNP ExAC gnomAD v2 |
| 11 | g.64759681T>G | CA381111997 | PYGM | c.218A>C (p.Gln73Pro) | dbSNP |
| 11 | g.64759681T= | CA1978929689 | PYGM | c.218A= (p.Gln73=) | |
| 11 | g.64759684_64759690dup | CA2695214471 | PYGM | c.212_218dup (p.Gln73HisfsTer7) | |
| 11 | g.64759682G>A | CA16041506 | PYGM | c.217C>T (p.Gln73Ter) | ClinVar dbSNP |
| 11 | g.64759682G>C | CA381112001 | PYGM | c.217C>G (p.Gln73Glu) | |
| 11 | g.64759682G= | CA1978929697 | PYGM | c.217C= (p.Gln73=) | |
| 11 | g.64759682G>T | CA381112003 | PYGM | c.217C>A (p.Gln73Lys) | |
| 11 | g.64759683C>A | CA381112004 | PYGM | c.216G>T (p.Gln72His) | |
| 11 | g.64759683C= | CA1978929702 | PYGM | c.216G= (p.Gln72=) | |
| 11 | g.64759683C>G | CA381112005 | PYGM | c.216G>C (p.Gln72His) | |
| 11 | g.64759683C>T | CA223889206 | PYGM | c.216G>A (p.Gln72=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64759684T>A | CA381112007 | PYGM | c.215A>T (p.Gln72Leu) | |
| 11 | g.64759684T>C | CA381112010 | PYGM | c.215A>G (p.Gln72Arg) | |
| 11 | g.64759684T>G | CA381112014 | PYGM | c.215A>C (p.Gln72Pro) | |
| 11 | g.64759685G>A | CA381112016 | PYGM | c.214C>T (p.Gln72Ter) | |
| 11 | g.64759685G>C | CA381112020 | PYGM | c.214C>G (p.Gln72Glu) | |
| 11 | g.64759685G>T | CA381112024 | PYGM | c.214C>A (p.Gln72Lys) | |
| 11 | g.64759686C>A | CA475161266 | PYGM | c.213G>T (p.Thr71=) | ClinVar gnomAD v4 |
| 11 | g.64759686C= | CA1978929704 | PYGM | c.213G= (p.Thr71=) | |
| 11 | g.64759686C>G | CA475161267 | PYGM | c.213G>C (p.Thr71=) | |
| 11 | g.64759686C>T | CA6080341 | PYGM | c.213G>A (p.Thr71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759687G>A | CA6080342 | PYGM | c.212C>T (p.Thr71Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759687G>C | CA381112038 | PYGM | c.212C>G (p.Thr71Arg) | ClinVar gnomAD v4 |
| 11 | g.64759687G= | CA1978929707 | PYGM | c.212C= (p.Thr71=) | |
| 11 | g.64759687G>T | CA381112040 | PYGM | c.212C>A (p.Thr71Lys) | |
| 11 | g.64759688T>A | CA381112046 | PYGM | c.211A>T (p.Thr71Ser) | |
| 11 | g.64759688T>C | CA381112048 | PYGM | c.211A>G (p.Thr71Ala) | |
| 11 | g.64759688T>G | CA381112049 | PYGM | c.211A>C (p.Thr71Pro) | |
| 11 | g.64759689G>A | CA475161270 | PYGM | c.210C>T (p.Arg70=) | |
| 11 | g.64759689G>C | CA475161271 | PYGM | c.210C>G (p.Arg70=) | |
| 11 | g.64759689G>T | CA475161272 | PYGM | c.210C>A (p.Arg70=) | |
| 11 | g.64759690_64759692del | CA2580084888 | PYGM | c.208_210del (p.Arg70del) | ClinVar |
| 11 | g.64759690C>A | CA6080343 | PYGM | c.209G>T (p.Arg70Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759690C= | CA1978929711 | PYGM | c.209G= (p.Arg70=) | |
| 11 | g.64759690C>G | CA381112056 | PYGM | c.209G>C (p.Arg70Pro) | dbSNP gnomAD v4 |
| 11 | g.64759690C>T | CA381112055 | PYGM | c.209G>A (p.Arg70His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759691G>A | CA6080344 | PYGM | c.208C>T (p.Arg70Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759691G>C | CA381112063 | PYGM | c.208C>G (p.Arg70Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64759691G= | CA1978929716 | PYGM | c.208C= (p.Arg70=) | |
| 11 | g.64759691G>T | CA381112064 | PYGM | c.208C>A (p.Arg70Ser) | |
| 11 | g.64759691_64759692insC | CA2792428934 | PYGM | c.207_208insG (p.Arg70AlafsTer8) | |
| 11 | g.64759692G>A | CA475161275 | PYGM | c.207C>T (p.Ile69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64759692G>C | CA381112067 | PYGM | c.207C>G (p.Ile69Met) | |
| 11 | g.64759692G= | CA1978929720 | PYGM | c.207C= (p.Ile69=) | |
| 11 | g.64759692G>T | CA475161276 | PYGM | c.207C>A (p.Ile69=) | |
| 11 | g.64759693A>C | CA381112071 | PYGM | c.206T>G (p.Ile69Ser) | |
| 11 | g.64759693A>G | CA381112074 | PYGM | c.206T>C (p.Ile69Thr) | |
| 11 | g.64759693A>T | CA381112077 | PYGM | c.206T>A (p.Ile69Asn) | |
| 11 | g.64759694T>A | CA381112078 | PYGM | c.205A>T (p.Ile69Phe) | |
| 11 | g.64759694T>C | CA381112079 | PYGM | c.205A>G (p.Ile69Val) | |
| 11 | g.64759694T>G | CA381112082 | PYGM | c.205A>C (p.Ile69Leu) | |
| 11 | g.64759694_64759702del | CA2792428935 | PYGM | c.197_205del (p.Gly66_Ile69delinsVal) | |
| 11 | g.64759695C>A | CA381112083 | PYGM | c.204G>T (p.Trp68Cys) | |
| 11 | g.64759695C= | CA1978929724 | PYGM | c.204G= (p.Trp68=) | |
| 11 | g.64759695C>G | CA381112093 | PYGM | c.204G>C (p.Trp68Cys) | |
| 11 | g.64759695C>T | CA16041507 | PYGM | c.204G>A (p.Trp68Ter) | ClinVar dbSNP |
| 11 | g.64759696C>A | CA381112105 | PYGM | c.203G>T (p.Trp68Leu) | |
| 11 | g.64759696C>G | CA381112107 | PYGM | c.203G>C (p.Trp68Ser) | |
| 11 | g.64759696C>T | CA381112103 | PYGM | c.203G>A (p.Trp68Ter) | |
| 11 | g.64759697A>C | CA381112110 | PYGM | c.202T>G (p.Trp68Gly) | |
| 11 | g.64759697A>G | CA381112113 | PYGM | c.202T>C (p.Trp68Arg) | |
| 11 | g.64759697A>T | CA381112115 | PYGM | c.202T>A (p.Trp68Arg) | |
| 11 | g.64759698G>A | CA475161284 | PYGM | c.201C>T (p.Arg67=) | |
| 11 | g.64759698G>C | CA475161285 | PYGM | c.201C>G (p.Arg67=) | |
| 11 | g.64759698G= | CA1978929729 | PYGM | c.201C= (p.Arg67=) | |
| 11 | g.64759698G>T | CA475161286 | PYGM | c.201C>A (p.Arg67=) | dbSNP |
| 11 | g.64759700_64759701del | CA912972830 | PYGM | c.200_201del (p.Arg67LeufsTer10) |