| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 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.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) |