| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50905475A= | CA2136411266 | PYGL | c.2461T= (p.Tyr821=) c.2379+2796T= (n.2379+2796T=) c.2359T= (p.Tyr787=) | |
| 14 | g.50905475A>C | CA389678997 | PYGL | c.2461T>G (p.Tyr821Asp) c.2379+2796T>G (n.2379+2796T>G) c.2359T>G (p.Tyr787Asp) | |
| 14 | g.50905475A>G | CA341920 | PYGL | c.2461T>C (p.Tyr821His) c.2379+2796T>C (n.2379+2796T>C) c.2359T>C (p.Tyr787His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905475A>T | CA389679000 | PYGL | c.2461T>A (p.Tyr821Asn) c.2379+2796T>A (n.2379+2796T>A) c.2359T>A (p.Tyr787Asn) | |
| 14 | g.50905476T>A | CA389679002 | PYGL | c.2460A>T (p.Glu820Asp) c.2379+2795A>T (n.2379+2795A>T) c.2358A>T (p.Glu786Asp) | |
| 14 | g.50905476T>C | CA486372411 | PYGL | c.2460A>G (p.Glu820=) c.2379+2795A>G (n.2379+2795A>G) c.2358A>G (p.Glu786=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905476T>G | CA389679003 | PYGL | c.2460A>C (p.Glu820Asp) c.2379+2795A>C (n.2379+2795A>C) c.2358A>C (p.Glu786Asp) | |
| 14 | g.50905476T= | CA2136411269 | PYGL | c.2460A= (p.Glu820=) c.2379+2795A= (n.2379+2795A=) c.2358A= (p.Glu786=) | |
| 14 | g.50905477T>A | CA389679005 | PYGL | c.2459A>T (p.Glu820Val) c.2379+2794A>T (n.2379+2794A>T) c.2357A>T (p.Glu786Val) | |
| 14 | g.50905477T>C | CA389679007 | PYGL | c.2459A>G (p.Glu820Gly) c.2379+2794A>G (n.2379+2794A>G) c.2357A>G (p.Glu786Gly) | |
| 14 | g.50905477T>G | CA389679008 | PYGL | c.2459A>C (p.Glu820Ala) c.2379+2794A>C (n.2379+2794A>C) c.2357A>C (p.Glu786Ala) | |
| 14 | g.50905478C>A | CA389679010 | PYGL | c.2458G>T (p.Glu820Ter) c.2379+2793G>T (n.2379+2793G>T) c.2356G>T (p.Glu786Ter) | |
| 14 | g.50905478C= | CA2136411272 | PYGL | c.2458G= (p.Glu820=) c.2379+2793G= (n.2379+2793G=) c.2356G= (p.Glu786=) | |
| 14 | g.50905478C>G | CA389679011 | PYGL | c.2458G>C (p.Glu820Gln) c.2379+2793G>C (n.2379+2793G>C) c.2356G>C (p.Glu786Gln) | |
| 14 | g.50905478C>T | CA389679013 | PYGL | c.2458G>A (p.Glu820Lys) c.2379+2793G>A (n.2379+2793G>A) c.2356G>A (p.Glu786Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905479T>A | CA389679015 | PYGL | c.2457A>T (p.Lys819Asn) c.2379+2792A>T (n.2379+2792A>T) c.2355A>T (p.Lys785Asn) | |
| 14 | g.50905479T>C | CA486372418 | PYGL | c.2457A>G (p.Lys819=) c.2379+2792A>G (n.2379+2792A>G) c.2355A>G (p.Lys785=) | |
| 14 | g.50905479T>G | CA389679016 | PYGL | c.2457A>C (p.Lys819Asn) c.2379+2792A>C (n.2379+2792A>C) c.2355A>C (p.Lys785Asn) | |
| 14 | g.50905480T>A | CA389679018 | PYGL | c.2456A>T (p.Lys819Ile) c.2379+2791A>T (n.2379+2791A>T) c.2354A>T (p.Lys785Ile) | |
| 14 | g.50905480T>C | CA389679020 | PYGL | c.2456A>G (p.Lys819Arg) c.2379+2791A>G (n.2379+2791A>G) c.2354A>G (p.Lys785Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905480T>G | CA389679021 | PYGL | c.2456A>C (p.Lys819Thr) c.2379+2791A>C (n.2379+2791A>C) c.2354A>C (p.Lys785Thr) | |
| 14 | g.50905480T= | CA2136411273 | PYGL | c.2456A= (p.Lys819=) c.2379+2791A= (n.2379+2791A=) c.2354A= (p.Lys785=) | |
| 14 | g.50905481T>A | CA389679022 | PYGL | c.2455A>T (p.Lys819Ter) c.2379+2790A>T (n.2379+2790A>T) c.2353A>T (p.Lys785Ter) | COSMIC |
| 14 | g.50905481T>C | CA389679023 | PYGL | c.2455A>G (p.Lys819Glu) c.2379+2790A>G (n.2379+2790A>G) c.2353A>G (p.Lys785Glu) | dbSNP gnomAD v4 |
| 14 | g.50905481T>G | CA389679024 | PYGL | c.2455A>C (p.Lys819Gln) c.2379+2790A>C (n.2379+2790A>C) c.2353A>C (p.Lys785Gln) | |
| 14 | g.50905482A= | CA2136411277 | PYGL | c.2454T= (p.Ile818=) c.2379+2789T= (n.2379+2789T=) c.2352T= (p.Ile784=) | |
| 14 | g.50905482A>C | CA389679026 | PYGL | c.2454T>G (p.Ile818Met) c.2379+2789T>G (n.2379+2789T>G) c.2352T>G (p.Ile784Met) | |
| 14 | g.50905482A>G | CA7183096 | PYGL | c.2454T>C (p.Ile818=) c.2379+2789T>C (n.2379+2789T>C) c.2352T>C (p.Ile784=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905482A>T | CA486372432 | PYGL | c.2454T>A (p.Ile818=) c.2379+2789T>A (n.2379+2789T>A) c.2352T>A (p.Ile784=) | |
| 14 | g.50905483A>C | CA389679029 | PYGL | c.2453T>G (p.Ile818Ser) c.2379+2788T>G (n.2379+2788T>G) c.2351T>G (p.Ile784Ser) | |
| 14 | g.50905483A>G | CA389679030 | PYGL | c.2453T>C (p.Ile818Thr) c.2379+2788T>C (n.2379+2788T>C) c.2351T>C (p.Ile784Thr) | gnomAD v4 |
| 14 | g.50905483A>T | CA389679032 | PYGL | c.2453T>A (p.Ile818Asn) c.2379+2788T>A (n.2379+2788T>A) c.2351T>A (p.Ile784Asn) | |
| 14 | g.50905484T>A | CA389679036 | PYGL | c.2452A>T (p.Ile818Phe) c.2379+2787A>T (n.2379+2787A>T) c.2350A>T (p.Ile784Phe) | |
| 14 | g.50905484T>C | CA260818852 | PYGL | c.2452A>G (p.Ile818Val) c.2379+2787A>G (n.2379+2787A>G) c.2350A>G (p.Ile784Val) | dbSNP |
| 14 | g.50905484T>G | CA389679034 | PYGL | c.2452A>C (p.Ile818Leu) c.2379+2787A>C (n.2379+2787A>C) c.2350A>C (p.Ile784Leu) | |
| 14 | g.50905484T= | CA2136411281 | PYGL | c.2452A= (p.Ile818=) c.2379+2787A= (n.2379+2787A=) c.2350A= (p.Ile784=) | |
| 14 | g.50905486_50905488del | CA486372445 | PYGL | c.2450_2452del (p.Thr817del) c.2379+2785_2379+2787del (n.2379+2785_2379+2787del) c.2348_2350del (p.Thr783del) | |
| 14 | g.50905485T>A | CA486372447 | PYGL | c.2451A>T (p.Thr817=) c.2379+2786A>T (n.2379+2786A>T) c.2349A>T (p.Thr783=) | |
| 14 | g.50905485T>C | CA486372449 | PYGL | c.2451A>G (p.Thr817=) c.2379+2786A>G (n.2379+2786A>G) c.2349A>G (p.Thr783=) | |
| 14 | g.50905485T>G | CA486372451 | PYGL | c.2451A>C (p.Thr817=) c.2379+2786A>C (n.2379+2786A>C) c.2349A>C (p.Thr783=) | |
| 14 | g.50905486G>A | CA389679038 | PYGL | c.2450C>T (p.Thr817Ile) c.2379+2785C>T (n.2379+2785C>T) c.2348C>T (p.Thr783Ile) | |
| 14 | g.50905486G>C | CA389679040 | PYGL | c.2450C>G (p.Thr817Arg) c.2379+2785C>G (n.2379+2785C>G) c.2348C>G (p.Thr783Arg) | |
| 14 | g.50905486G>T | CA389679041 | PYGL | c.2450C>A (p.Thr817Lys) c.2379+2785C>A (n.2379+2785C>A) c.2348C>A (p.Thr783Lys) | gnomAD v4 |
| 14 | g.50905487T>A | CA389679043 | PYGL | c.2449A>T (p.Thr817Ser) c.2379+2784A>T (n.2379+2784A>T) c.2347A>T (p.Thr783Ser) | |
| 14 | g.50905487T>C | CA389679045 | PYGL | c.2449A>G (p.Thr817Ala) c.2379+2784A>G (n.2379+2784A>G) c.2347A>G (p.Thr783Ala) | |
| 14 | g.50905487T>G | CA260818856 | PYGL | c.2449A>C (p.Thr817Pro) c.2379+2784A>C (n.2379+2784A>C) c.2347A>C (p.Thr783Pro) | dbSNP gnomAD v4 |
| 14 | g.50905487T= | CA2136411286 | PYGL | c.2449A= (p.Thr817=) c.2379+2784A= (n.2379+2784A=) c.2347A= (p.Thr783=) | |
| 14 | g.50905488T>A | CA486372464 | PYGL | c.2448A>T (p.Arg816=) c.2379+2783A>T (n.2379+2783A>T) c.2346A>T (p.Arg782=) | |
| 14 | g.50905488T>C | CA486372465 | PYGL | c.2448A>G (p.Arg816=) c.2379+2783A>G (n.2379+2783A>G) c.2346A>G (p.Arg782=) | |
| 14 | g.50905488T>G | CA486372463 | PYGL | c.2448A>C (p.Arg816=) c.2379+2783A>C (n.2379+2783A>C) c.2346A>C (p.Arg782=) |