| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50905435T>A | CA389678819 | PYGL | c.2501A>T (p.Lys834Met) c.2379+2836A>T (n.2379+2836A>T) c.2399A>T (p.Lys800Met) | |
| 14 | g.50905435T>C | CA389678821 | PYGL | c.2501A>G (p.Lys834Arg) c.2379+2836A>G (n.2379+2836A>G) c.2399A>G (p.Lys800Arg) | |
| 14 | g.50905435T>G | CA389678822 | PYGL | c.2501A>C (p.Lys834Thr) c.2379+2836A>C (n.2379+2836A>C) c.2399A>C (p.Lys800Thr) | |
| 14 | g.50905437del | CA2575525118 | PYGL | c.2501del (p.Lys834ArgfsTer17) c.2379+2836del (n.2379+2836del) c.2399del (p.Lys800ArgfsTer17) | |
| 14 | g.50905436T>A | CA389678824 | PYGL | c.2500A>T (p.Lys834Ter) c.2379+2835A>T (n.2379+2835A>T) c.2398A>T (p.Lys800Ter) | |
| 14 | g.50905436T>C | CA389678825 | PYGL | c.2500A>G (p.Lys834Glu) c.2379+2835A>G (n.2379+2835A>G) c.2398A>G (p.Lys800Glu) | |
| 14 | g.50905436T>G | CA389678828 | PYGL | c.2500A>C (p.Lys834Gln) c.2379+2835A>C (n.2379+2835A>C) c.2398A>C (p.Lys800Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905436T= | CA2136411207 | PYGL | c.2500A= (p.Lys834=) c.2379+2835A= (n.2379+2835A=) c.2398A= (p.Lys800=) | |
| 14 | g.50905437T>A | CA486372197 | PYGL | c.2499A>T (p.Leu833=) c.2379+2834A>T (n.2379+2834A>T) c.2397A>T (p.Leu799=) | |
| 14 | g.50905437T>C | CA486372195 | PYGL | c.2499A>G (p.Leu833=) c.2379+2834A>G (n.2379+2834A>G) c.2397A>G (p.Leu799=) | dbSNP gnomAD v4 |
| 14 | g.50905437T>G | CA486372193 | PYGL | c.2499A>C (p.Leu833=) c.2379+2834A>C (n.2379+2834A>C) c.2397A>C (p.Leu799=) | |
| 14 | g.50905437T= | CA2136411208 | PYGL | c.2499A= (p.Leu833=) c.2379+2834A= (n.2379+2834A=) c.2397A= (p.Leu799=) | |
| 14 | g.50905438A>C | CA389678831 | PYGL | c.2498T>G (p.Leu833Arg) c.2379+2833T>G (n.2379+2833T>G) c.2396T>G (p.Leu799Arg) | dbSNP |
| 14 | g.50905438A>G | CA389678833 | PYGL | c.2498T>C (p.Leu833Pro) c.2379+2833T>C (n.2379+2833T>C) c.2396T>C (p.Leu799Pro) | |
| 14 | g.50905438A>T | CA389678834 | PYGL | c.2498T>A (p.Leu833Gln) c.2379+2833T>A (n.2379+2833T>A) c.2396T>A (p.Leu799Gln) | |
| 14 | g.50905439G>A | CA486372209 | PYGL | c.2497C>T (p.Leu833=) c.2379+2832C>T (n.2379+2832C>T) c.2395C>T (p.Leu799=) | gnomAD v4 |
| 14 | g.50905439G>C | CA389678837 | PYGL | c.2497C>G (p.Leu833Val) c.2379+2832C>G (n.2379+2832C>G) c.2395C>G (p.Leu799Val) | |
| 14 | g.50905439G>T | CA389678839 | PYGL | c.2497C>A (p.Leu833Ile) c.2379+2832C>A (n.2379+2832C>A) c.2395C>A (p.Leu799Ile) | |
| 14 | g.50905440A>C | CA389678842 | PYGL | c.2496T>G (p.Asp832Glu) c.2379+2831T>G (n.2379+2831T>G) c.2394T>G (p.Asp798Glu) | |
| 14 | g.50905440A>G | CA486372225 | PYGL | c.2496T>C (p.Asp832=) c.2379+2831T>C (n.2379+2831T>C) c.2394T>C (p.Asp798=) | |
| 14 | g.50905440A>T | CA389678844 | PYGL | c.2496T>A (p.Asp832Glu) c.2379+2831T>A (n.2379+2831T>A) c.2394T>A (p.Asp798Glu) | |
| 14 | g.50905441T>A | CA389678848 | PYGL | c.2495A>T (p.Asp832Val) c.2379+2830A>T (n.2379+2830A>T) c.2393A>T (p.Asp798Val) | |
| 14 | g.50905441T>C | CA389678846 | PYGL | c.2495A>G (p.Asp832Gly) c.2379+2830A>G (n.2379+2830A>G) c.2393A>G (p.Asp798Gly) | |
| 14 | g.50905441T>G | CA260818817 | PYGL | c.2495A>C (p.Asp832Ala) c.2379+2830A>C (n.2379+2830A>C) c.2393A>C (p.Asp798Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905441T= | CA2136411211 | PYGL | c.2495A= (p.Asp832=) c.2379+2830A= (n.2379+2830A=) c.2393A= (p.Asp798=) | |
| 14 | g.50905442C>A | CA389678851 | PYGL | c.2494G>T (p.Asp832Tyr) c.2379+2829G>T (n.2379+2829G>T) c.2392G>T (p.Asp798Tyr) | gnomAD v4 |
| 14 | g.50905442C>G | CA389678856 | PYGL | c.2494G>C (p.Asp832His) c.2379+2829G>C (n.2379+2829G>C) c.2392G>C (p.Asp798His) | |
| 14 | g.50905442C>T | CA389678854 | PYGL | c.2494G>A (p.Asp832Asn) c.2379+2829G>A (n.2379+2829G>A) c.2392G>A (p.Asp798Asn) | |
| 14 | g.50905443T>A | CA486372232 | PYGL | c.2493A>T (p.Ser831=) c.2379+2828A>T (n.2379+2828A>T) c.2391A>T (p.Ser797=) | |
| 14 | g.50905443T>C | CA486372233 | PYGL | c.2493A>G (p.Ser831=) c.2379+2828A>G (n.2379+2828A>G) c.2391A>G (p.Ser797=) | |
| 14 | g.50905443T>G | CA486372235 | PYGL | c.2493A>C (p.Ser831=) c.2379+2828A>C (n.2379+2828A>C) c.2391A>C (p.Ser797=) | gnomAD v4 COSMIC |
| 14 | g.50905444G>A | CA389678857 | PYGL | c.2492C>T (p.Ser831Leu) c.2379+2827C>T (n.2379+2827C>T) c.2390C>T (p.Ser797Leu) | |
| 14 | g.50905444G>C | CA389678860 | PYGL | c.2492C>G (p.Ser831Ter) c.2379+2827C>G (n.2379+2827C>G) c.2390C>G (p.Ser797Ter) | |
| 14 | g.50905444G>T | CA389678863 | PYGL | c.2492C>A (p.Ser831Ter) c.2379+2827C>A (n.2379+2827C>A) c.2390C>A (p.Ser797Ter) | |
| 14 | g.50905445A>C | CA389678865 | PYGL | c.2491T>G (p.Ser831Ala) c.2379+2826T>G (n.2379+2826T>G) c.2389T>G (p.Ser797Ala) | |
| 14 | g.50905445A>G | CA389678867 | PYGL | c.2491T>C (p.Ser831Pro) c.2379+2826T>C (n.2379+2826T>C) c.2389T>C (p.Ser797Pro) | |
| 14 | g.50905445A>T | CA389678869 | PYGL | c.2491T>A (p.Ser831Thr) c.2379+2826T>A (n.2379+2826T>A) c.2389T>A (p.Ser797Thr) | |
| 14 | g.50905446A= | CA2136411213 | PYGL | c.2490T= (p.Pro830=) c.2379+2825T= (n.2379+2825T=) c.2388T= (p.Pro796=) | |
| 14 | g.50905446A>C | CA486372246 | PYGL | c.2490T>G (p.Pro830=) c.2379+2825T>G (n.2379+2825T>G) c.2388T>G (p.Pro796=) | |
| 14 | g.50905446A>G | CA486372249 | PYGL | c.2490T>C (p.Pro830=) c.2379+2825T>C (n.2379+2825T>C) c.2388T>C (p.Pro796=) | gnomAD v4 |
| 14 | g.50905446A>T | CA486372253 | PYGL | c.2490T>A (p.Pro830=) c.2379+2825T>A (n.2379+2825T>A) c.2388T>A (p.Pro796=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905447G>A | CA389678872 | PYGL | c.2489C>T (p.Pro830Leu) c.2379+2824C>T (n.2379+2824C>T) c.2387C>T (p.Pro796Leu) | |
| 14 | g.50905447G>C | CA389678875 | PYGL | c.2489C>G (p.Pro830Arg) c.2379+2824C>G (n.2379+2824C>G) c.2387C>G (p.Pro796Arg) | |
| 14 | g.50905447G>T | CA389678876 | PYGL | c.2489C>A (p.Pro830His) c.2379+2824C>A (n.2379+2824C>A) c.2387C>A (p.Pro796His) | |
| 14 | g.50905448G>A | CA389678880 | PYGL | c.2488C>T (p.Pro830Ser) c.2379+2823C>T (n.2379+2823C>T) c.2386C>T (p.Pro796Ser) | dbSNP |
| 14 | g.50905448G>C | CA389678883 | PYGL | c.2488C>G (p.Pro830Ala) c.2379+2823C>G (n.2379+2823C>G) c.2386C>G (p.Pro796Ala) | |
| 14 | g.50905448G= | CA2136411217 | PYGL | c.2488C= (p.Pro830=) c.2379+2823C= (n.2379+2823C=) c.2386C= (p.Pro796=) | |
| 14 | g.50905448G>T | CA7183090 | PYGL | c.2488C>A (p.Pro830Thr) c.2379+2823C>A (n.2379+2823C>A) c.2386C>A (p.Pro796Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905449T>A | CA389678891 | PYGL | c.2487A>T (p.Glu829Asp) c.2379+2822A>T (n.2379+2822A>T) c.2385A>T (p.Glu795Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905449T>C | CA486372268 | PYGL | c.2487A>G (p.Glu829=) c.2379+2822A>G (n.2379+2822A>G) c.2385A>G (p.Glu795=) | |
| 14 | g.50905449T>G | CA389678892 | PYGL | c.2487A>C (p.Glu829Asp) c.2379+2822A>C (n.2379+2822A>C) c.2385A>C (p.Glu795Asp) | |
| 14 | g.50905449T= | CA2136411221 | PYGL | c.2487A= (p.Glu829=) c.2379+2822A= (n.2379+2822A=) c.2385A= (p.Glu795=) | |
| 14 | g.50905450T>A | CA389678896 | PYGL | c.2486A>T (p.Glu829Val) c.2379+2821A>T (n.2379+2821A>T) c.2384A>T (p.Glu795Val) | |
| 14 | g.50905450T>C | CA389678897 | PYGL | c.2486A>G (p.Glu829Gly) c.2379+2821A>G (n.2379+2821A>G) c.2384A>G (p.Glu795Gly) | |
| 14 | g.50905450T>G | CA389678900 | PYGL | c.2486A>C (p.Glu829Ala) c.2379+2821A>C (n.2379+2821A>C) c.2384A>C (p.Glu795Ala) | |
| 14 | g.50905450_50905453delinsTCCA | CA2136411223 | PYGL | c.2483_2486delinsTGGA (p.Val828=) c.2379+2818_2379+2821delinsTGGA (n.2379+2818_2379+2821delinsTGGA) c.2381_2384delinsTGGA (p.Val794=) | |
| 14 | g.50905451C>A | CA389678902 | PYGL | c.2485G>T (p.Glu829Ter) c.2379+2820G>T (n.2379+2820G>T) c.2383G>T (p.Glu795Ter) | |
| 14 | g.50905451C>G | CA389678904 | PYGL | c.2485G>C (p.Glu829Gln) c.2379+2820G>C (n.2379+2820G>C) c.2383G>C (p.Glu795Gln) | |
| 14 | g.50905451C>T | CA389678906 | PYGL | c.2485G>A (p.Glu829Lys) c.2379+2820G>A (n.2379+2820G>A) c.2383G>A (p.Glu795Lys) | COSMIC |
| 14 | g.50905452_50905454del | CA2136411226 | PYGL | c.2483_2485del (p.Val828del) c.2379+2818_2379+2820del (n.2379+2818_2379+2820del) c.2381_2383del (p.Val794del) | dbSNP gnomAD v4 |
| 14 | g.50905452C>A | CA486372286 | PYGL | c.2484G>T (p.Val828=) c.2379+2819G>T (n.2379+2819G>T) c.2382G>T (p.Val794=) | |
| 14 | g.50905452C>G | CA486372287 | PYGL | c.2484G>C (p.Val828=) c.2379+2819G>C (n.2379+2819G>C) c.2382G>C (p.Val794=) | |
| 14 | g.50905452C>T | CA486372289 | PYGL | c.2484G>A (p.Val828=) c.2379+2819G>A (n.2379+2819G>A) c.2382G>A (p.Val794=) | |
| 14 | g.50905453A>C | CA389678908 | PYGL | c.2483T>G (p.Val828Gly) c.2379+2818T>G (n.2379+2818T>G) c.2381T>G (p.Val794Gly) | ClinVar |
| 14 | g.50905453A>G | CA389678910 | PYGL | c.2483T>C (p.Val828Ala) c.2379+2818T>C (n.2379+2818T>C) c.2381T>C (p.Val794Ala) | |
| 14 | g.50905453A>T | CA389678911 | PYGL | c.2483T>A (p.Val828Glu) c.2379+2818T>A (n.2379+2818T>A) c.2381T>A (p.Val794Glu) | |
| 14 | g.50905454C>A | CA389678913 | PYGL | c.2482G>T (p.Val828Leu) c.2379+2817G>T (n.2379+2817G>T) c.2380G>T (p.Val794Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905454C= | CA2136411229 | PYGL | c.2482G= (p.Val828=) c.2379+2817G= (n.2379+2817G=) c.2380G= (p.Val794=) | |
| 14 | g.50905454C>G | CA389678915 | PYGL | c.2482G>C (p.Val828Leu) c.2379+2817G>C (n.2379+2817G>C) c.2380G>C (p.Val794Leu) | gnomAD v4 |
| 14 | g.50905454C>T | CA260818828 | PYGL | c.2482G>A (p.Val828Met) c.2379+2817G>A (n.2379+2817G>A) c.2380G>A (p.Val794Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905455G>A | CA7183091 | PYGL | c.2481C>T (p.Asn827=) c.2379+2816C>T (n.2379+2816C>T) c.2379C>T (p.Asn793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905455G>C | CA389678917 | PYGL | c.2481C>G (p.Asn827Lys) c.2379+2816C>G (n.2379+2816C>G) c.2379C>G (p.Asn793Lys) | |
| 14 | g.50905455G= | CA2136411232 | PYGL | c.2481C= (p.Asn827=) c.2379+2816C= (n.2379+2816C=) c.2379C= (p.Asn793=) | |
| 14 | g.50905455G>T | CA389678919 | PYGL | c.2481C>A (p.Asn827Lys) c.2379+2816C>A (n.2379+2816C>A) c.2379C>A (p.Asn793Lys) | |
| 14 | g.50905456T>A | CA389678921 | PYGL | c.2480A>T (p.Asn827Ile) c.2379+2815A>T (n.2379+2815A>T) c.2378A>T (p.Asn793Ile) | |
| 14 | g.50905456T>C | CA389678922 | PYGL | c.2480A>G (p.Asn827Ser) c.2379+2815A>G (n.2379+2815A>G) c.2378A>G (p.Asn793Ser) | dbSNP |
| 14 | g.50905456T>G | CA389678924 | PYGL | c.2480A>C (p.Asn827Thr) c.2379+2815A>C (n.2379+2815A>C) c.2378A>C (p.Asn793Thr) | |
| 14 | g.50905457T>A | CA389678926 | PYGL | c.2479A>T (p.Asn827Tyr) c.2379+2814A>T (n.2379+2814A>T) c.2377A>T (p.Asn793Tyr) | |
| 14 | g.50905457T>C | CA389678928 | PYGL | c.2479A>G (p.Asn827Asp) c.2379+2814A>G (n.2379+2814A>G) c.2377A>G (p.Asn793Asp) | COSMIC |
| 14 | g.50905457T>G | CA389678929 | PYGL | c.2479A>C (p.Asn827His) c.2379+2814A>C (n.2379+2814A>C) c.2377A>C (p.Asn793His) | |
| 14 | g.50905458C>A | CA389678931 | PYGL | c.2478G>T (p.Trp826Cys) c.2379+2813G>T (n.2379+2813G>T) c.2376G>T (p.Trp792Cys) | |
| 14 | g.50905458C= | CA2136411238 | PYGL | c.2478G= (p.Trp826=) c.2379+2813G= (n.2379+2813G=) c.2376G= (p.Trp792=) | |
| 14 | g.50905458C>G | CA389678932 | PYGL | c.2478G>C (p.Trp826Cys) c.2379+2813G>C (n.2379+2813G>C) c.2376G>C (p.Trp792Cys) | |
| 14 | g.50905458C>T | CA389678933 | PYGL | c.2478G>A (p.Trp826Ter) c.2379+2813G>A (n.2379+2813G>A) c.2376G>A (p.Trp792Ter) | dbSNP |
| 14 | g.50905459C>A | CA389678935 | PYGL | c.2477G>T (p.Trp826Leu) c.2379+2812G>T (n.2379+2812G>T) c.2375G>T (p.Trp792Leu) | |
| 14 | g.50905459C= | CA2136411241 | PYGL | c.2477G= (p.Trp826=) c.2379+2812G= (n.2379+2812G=) c.2375G= (p.Trp792=) | |
| 14 | g.50905459C>G | CA389678936 | PYGL | c.2477G>C (p.Trp826Ser) c.2379+2812G>C (n.2379+2812G>C) c.2375G>C (p.Trp792Ser) | |
| 14 | g.50905459C>T | CA7183092 | PYGL | c.2477G>A (p.Trp826Ter) c.2379+2812G>A (n.2379+2812G>A) c.2375G>A (p.Trp792Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905460A>C | CA389678942 | PYGL | c.2476T>G (p.Trp826Gly) c.2379+2811T>G (n.2379+2811T>G) c.2374T>G (p.Trp792Gly) | |
| 14 | g.50905460A>G | CA389678940 | PYGL | c.2476T>C (p.Trp826Arg) c.2379+2811T>C (n.2379+2811T>C) c.2374T>C (p.Trp792Arg) | |
| 14 | g.50905460A>T | CA389678938 | PYGL | c.2476T>A (p.Trp826Arg) c.2379+2811T>A (n.2379+2811T>A) c.2374T>A (p.Trp792Arg) | |
| 14 | g.50905461G>A | CA486372339 | PYGL | c.2475C>T (p.Ile825=) c.2379+2810C>T (n.2379+2810C>T) c.2373C>T (p.Ile791=) | gnomAD v4 |
| 14 | g.50905461G>C | CA389678943 | PYGL | c.2475C>G (p.Ile825Met) c.2379+2810C>G (n.2379+2810C>G) c.2373C>G (p.Ile791Met) | |
| 14 | g.50905461G= | CA2136411243 | PYGL | c.2475C= (p.Ile825=) c.2379+2810C= (n.2379+2810C=) c.2373C= (p.Ile791=) | |
| 14 | g.50905461G>T | CA486372338 | PYGL | c.2475C>A (p.Ile825=) c.2379+2810C>A (n.2379+2810C>A) c.2373C>A (p.Ile791=) | dbSNP |
| 14 | g.50905462A>C | CA389678946 | PYGL | c.2474T>G (p.Ile825Ser) c.2379+2809T>G (n.2379+2809T>G) c.2372T>G (p.Ile791Ser) | |
| 14 | g.50905462A>G | CA389678947 | PYGL | c.2474T>C (p.Ile825Thr) c.2379+2809T>C (n.2379+2809T>C) c.2372T>C (p.Ile791Thr) | |
| 14 | g.50905462A>T | CA389678949 | PYGL | c.2474T>A (p.Ile825Asn) c.2379+2809T>A (n.2379+2809T>A) c.2372T>A (p.Ile791Asn) | |
| 14 | g.50905463T>A | CA389678950 | PYGL | c.2473A>T (p.Ile825Phe) c.2379+2808A>T (n.2379+2808A>T) c.2371A>T (p.Ile791Phe) | gnomAD v4 |
| 14 | g.50905463T>C | CA389678952 | PYGL | c.2473A>G (p.Ile825Val) c.2379+2808A>G (n.2379+2808A>G) c.2371A>G (p.Ile791Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905463T>G | CA389678954 | PYGL | c.2473A>C (p.Ile825Leu) c.2379+2808A>C (n.2379+2808A>C) c.2371A>C (p.Ile791Leu) | |
| 14 | g.50905463T= | CA2136411246 | PYGL | c.2473A= (p.Ile825=) c.2379+2808A= (n.2379+2808A=) c.2371A= (p.Ile791=) | |
| 14 | g.50905464G>A | CA7183093 | PYGL | c.2472C>T (p.Asn824=) c.2379+2807C>T (n.2379+2807C>T) c.2370C>T (p.Asn790=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905464G>C | CA389678956 | PYGL | c.2472C>G (p.Asn824Lys) c.2379+2807C>G (n.2379+2807C>G) c.2370C>G (p.Asn790Lys) | |
| 14 | g.50905464G= | CA2136411249 | PYGL | c.2472C= (p.Asn824=) c.2379+2807C= (n.2379+2807C=) c.2370C= (p.Asn790=) | |
| 14 | g.50905464G>T | CA389678958 | PYGL | c.2472C>A (p.Asn824Lys) c.2379+2807C>A (n.2379+2807C>A) c.2370C>A (p.Asn790Lys) | |
| 14 | g.50905465T>A | CA389678960 | PYGL | c.2471A>T (p.Asn824Ile) c.2379+2806A>T (n.2379+2806A>T) c.2369A>T (p.Asn790Ile) | |
| 14 | g.50905465T>C | CA389678961 | PYGL | c.2471A>G (p.Asn824Ser) c.2379+2806A>G (n.2379+2806A>G) c.2369A>G (p.Asn790Ser) | gnomAD v4 |
| 14 | g.50905465T>G | CA389678963 | PYGL | c.2471A>C (p.Asn824Thr) c.2379+2806A>C (n.2379+2806A>C) c.2369A>C (p.Asn790Thr) | |
| 14 | g.50905466T>A | CA389678967 | PYGL | c.2470A>T (p.Asn824Tyr) c.2379+2805A>T (n.2379+2805A>T) c.2368A>T (p.Asn790Tyr) | |
| 14 | g.50905466T>C | CA389678968 | PYGL | c.2470A>G (p.Asn824Asp) c.2379+2805A>G (n.2379+2805A>G) c.2368A>G (p.Asn790Asp) | |
| 14 | g.50905466T>G | CA389678965 | PYGL | c.2470A>C (p.Asn824His) c.2379+2805A>C (n.2379+2805A>C) c.2368A>C (p.Asn790His) | |
| 14 | g.50905467T>A | CA389678970 | PYGL | c.2469A>T (p.Gln823His) c.2379+2804A>T (n.2379+2804A>T) c.2367A>T (p.Gln789His) | |
| 14 | g.50905467T>C | CA486372368 | PYGL | c.2469A>G (p.Gln823=) c.2379+2804A>G (n.2379+2804A>G) c.2367A>G (p.Gln789=) | gnomAD v4 |
| 14 | g.50905467T>G | CA389678972 | PYGL | c.2469A>C (p.Gln823His) c.2379+2804A>C (n.2379+2804A>C) c.2367A>C (p.Gln789His) | gnomAD v4 |
| 14 | g.50905468T>A | CA389678974 | PYGL | c.2468A>T (p.Gln823Leu) c.2379+2803A>T (n.2379+2803A>T) c.2366A>T (p.Gln789Leu) | |
| 14 | g.50905468T>C | CA389678977 | PYGL | c.2468A>G (p.Gln823Arg) c.2379+2803A>G (n.2379+2803A>G) c.2366A>G (p.Gln789Arg) | dbSNP gnomAD v4 |
| 14 | g.50905468T>G | CA389678975 | PYGL | c.2468A>C (p.Gln823Pro) c.2379+2803A>C (n.2379+2803A>C) c.2366A>C (p.Gln789Pro) | |
| 14 | g.50905468T= | CA2136411254 | PYGL | c.2468A= (p.Gln823=) c.2379+2803A= (n.2379+2803A=) c.2366A= (p.Gln789=) | |
| 14 | g.50905469G>A | CA7183094 | PYGL | c.2467C>T (p.Gln823Ter) c.2379+2802C>T (n.2379+2802C>T) c.2365C>T (p.Gln789Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905469G>C | CA389678979 | PYGL | c.2467C>G (p.Gln823Glu) c.2379+2802C>G (n.2379+2802C>G) c.2365C>G (p.Gln789Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905469G= | CA2136411257 | PYGL | c.2467C= (p.Gln823=) c.2379+2802C= (n.2379+2802C=) c.2365C= (p.Gln789=) | |
| 14 | g.50905469G>T | CA389678980 | PYGL | c.2467C>A (p.Gln823Lys) c.2379+2802C>A (n.2379+2802C>A) c.2365C>A (p.Gln789Lys) | |
| 14 | g.50905470G>A | CA486372382 | PYGL | c.2466C>T (p.Ala822=) c.2379+2801C>T (n.2379+2801C>T) c.2364C>T (p.Ala788=) | |
| 14 | g.50905470G>C | CA486372380 | PYGL | c.2466C>G (p.Ala822=) c.2379+2801C>G (n.2379+2801C>G) c.2364C>G (p.Ala788=) | |
| 14 | g.50905470G>T | CA486372377 | PYGL | c.2466C>A (p.Ala822=) c.2379+2801C>A (n.2379+2801C>A) c.2364C>A (p.Ala788=) | |
| 14 | g.50905471G>A | CA389678982 | PYGL | c.2465C>T (p.Ala822Val) c.2379+2800C>T (n.2379+2800C>T) c.2363C>T (p.Ala788Val) | |
| 14 | g.50905471G>C | CA389678983 | PYGL | c.2465C>G (p.Ala822Gly) c.2379+2800C>G (n.2379+2800C>G) c.2363C>G (p.Ala788Gly) | |
| 14 | g.50905471G>T | CA389678984 | PYGL | c.2465C>A (p.Ala822Asp) c.2379+2800C>A (n.2379+2800C>A) c.2363C>A (p.Ala788Asp) | |
| 14 | g.50905472C>A | CA389678985 | PYGL | c.2464G>T (p.Ala822Ser) c.2379+2799G>T (n.2379+2799G>T) c.2362G>T (p.Ala788Ser) | |
| 14 | g.50905472C>G | CA389678987 | PYGL | c.2464G>C (p.Ala822Pro) c.2379+2799G>C (n.2379+2799G>C) c.2362G>C (p.Ala788Pro) | |
| 14 | g.50905472C>T | CA389678988 | PYGL | c.2464G>A (p.Ala822Thr) c.2379+2799G>A (n.2379+2799G>A) c.2362G>A (p.Ala788Thr) | |
| 14 | g.50905473A= | CA2136411263 | PYGL | c.2463T= (p.Tyr821=) c.2379+2798T= (n.2379+2798T=) c.2361T= (p.Tyr787=) | |
| 14 | g.50905473A>C | CA7183095 | PYGL | c.2463T>G (p.Tyr821Ter) c.2379+2798T>G (n.2379+2798T>G) c.2361T>G (p.Tyr787Ter) | dbSNP ExAC |
| 14 | g.50905473A>G | CA486372398 | PYGL | c.2463T>C (p.Tyr821=) c.2379+2798T>C (n.2379+2798T>C) c.2361T>C (p.Tyr787=) | |
| 14 | g.50905473A>T | CA389678991 | PYGL | c.2463T>A (p.Tyr821Ter) c.2379+2798T>A (n.2379+2798T>A) c.2361T>A (p.Tyr787Ter) | |
| 14 | g.50905474T>A | CA389678996 | PYGL | c.2462A>T (p.Tyr821Phe) c.2379+2797A>T (n.2379+2797A>T) c.2360A>T (p.Tyr787Phe) | COSMIC |
| 14 | g.50905474T>C | CA389678992 | PYGL | c.2462A>G (p.Tyr821Cys) c.2379+2797A>G (n.2379+2797A>G) c.2360A>G (p.Tyr787Cys) | |
| 14 | g.50905474T>G | CA389678994 | PYGL | c.2462A>C (p.Tyr821Ser) c.2379+2797A>C (n.2379+2797A>C) c.2360A>C (p.Tyr787Ser) | |
| 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=) | |
| 14 | g.50905489C>A | CA389679047 | PYGL | c.2447G>T (p.Arg816Leu) c.2379+2782G>T (n.2379+2782G>T) c.2345G>T (p.Arg782Leu) | |
| 14 | g.50905489C= | CA2136411288 | PYGL | c.2447G= (p.Arg816=) c.2379+2782G= (n.2379+2782G=) c.2345G= (p.Arg782=) | |
| 14 | g.50905489C>G | CA389679049 | PYGL | c.2447G>C (p.Arg816Pro) c.2379+2782G>C (n.2379+2782G>C) c.2345G>C (p.Arg782Pro) | gnomAD v4 |
| 14 | g.50905489C>T | CA7183097 | PYGL | c.2447G>A (p.Arg816Gln) c.2379+2782G>A (n.2379+2782G>A) c.2345G>A (p.Arg782Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905490G>A | CA260818876 | PYGL | c.2446C>T (p.Arg816Ter) c.2379+2781C>T (n.2379+2781C>T) c.2344C>T (p.Arg782Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905490G>C | CA260818878 | PYGL | c.2446C>G (p.Arg816Gly) c.2379+2781C>G (n.2379+2781C>G) c.2344C>G (p.Arg782Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905490G= | CA2136411291 | PYGL | c.2446C= (p.Arg816=) c.2379+2781C= (n.2379+2781C=) c.2344C= (p.Arg782=) | |
| 14 | g.50905490G>T | CA486372471 | PYGL | c.2446C>A (p.Arg816=) c.2379+2781C>A (n.2379+2781C>A) c.2344C>A (p.Arg782=) | COSMIC |
| 14 | g.50905491G>A | CA486372473 | PYGL | c.2445C>T (p.Asp815=) c.2379+2780C>T (n.2379+2780C>T) c.2343C>T (p.Asp781=) | |
| 14 | g.50905491G>C | CA389679053 | PYGL | c.2445C>G (p.Asp815Glu) c.2379+2780C>G (n.2379+2780C>G) c.2343C>G (p.Asp781Glu) | |
| 14 | g.50905491G>T | CA389679054 | PYGL | c.2445C>A (p.Asp815Glu) c.2379+2780C>A (n.2379+2780C>A) c.2343C>A (p.Asp781Glu) | |
| 14 | g.50905492T>A | CA389679058 | PYGL | c.2444A>T (p.Asp815Val) c.2379+2779A>T (n.2379+2779A>T) c.2342A>T (p.Asp781Val) | |
| 14 | g.50905492T>C | CA389679059 | PYGL | c.2444A>G (p.Asp815Gly) c.2379+2779A>G (n.2379+2779A>G) c.2342A>G (p.Asp781Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905492T>G | CA389679056 | PYGL | c.2444A>C (p.Asp815Ala) c.2379+2779A>C (n.2379+2779A>C) c.2342A>C (p.Asp781Ala) | |
| 14 | g.50905492T= | CA2136411294 | PYGL | c.2444A= (p.Asp815=) c.2379+2779A= (n.2379+2779A=) c.2342A= (p.Asp781=) | |
| 14 | g.50905493C>A | CA389679061 | PYGL | c.2443G>T (p.Asp815Tyr) c.2379+2778G>T (n.2379+2778G>T) c.2341G>T (p.Asp781Tyr) | gnomAD v4 |
| 14 | g.50905493C= | CA2136411295 | PYGL | c.2443G= (p.Asp815=) c.2379+2778G= (n.2379+2778G=) c.2341G= (p.Asp781=) | |
| 14 | g.50905493C>G | CA389679063 | PYGL | c.2443G>C (p.Asp815His) c.2379+2778G>C (n.2379+2778G>C) c.2341G>C (p.Asp781His) | |
| 14 | g.50905493C>T | CA389679064 | PYGL | c.2443G>A (p.Asp815Asn) c.2379+2778G>A (n.2379+2778G>A) c.2341G>A (p.Asp781Asn) | dbSNP gnomAD v4 |
| 14 | g.50905494A>C | CA389679066 | PYGL | c.2442T>G (p.Ser814Arg) c.2379+2777T>G (n.2379+2777T>G) c.2340T>G (p.Ser780Arg) | |
| 14 | g.50905494A>G | CA486372490 | PYGL | c.2442T>C (p.Ser814=) c.2379+2777T>C (n.2379+2777T>C) c.2340T>C (p.Ser780=) | |
| 14 | g.50905494A>T | CA389679068 | PYGL | c.2442T>A (p.Ser814Arg) c.2379+2777T>A (n.2379+2777T>A) c.2340T>A (p.Ser780Arg) | gnomAD v3 gnomAD v4 |
| 14 | g.50905495C>A | CA389679072 | PYGL | c.2441G>T (p.Ser814Ile) c.2379+2776G>T (n.2379+2776G>T) c.2339G>T (p.Ser780Ile) | |
| 14 | g.50905495C>G | CA389679071 | PYGL | c.2441G>C (p.Ser814Thr) c.2379+2776G>C (n.2379+2776G>C) c.2339G>C (p.Ser780Thr) | |
| 14 | g.50905495C>T | CA389679070 | PYGL | c.2441G>A (p.Ser814Asn) c.2379+2776G>A (n.2379+2776G>A) c.2339G>A (p.Ser780Asn) | |
| 14 | g.50905496T>A | CA389679075 | PYGL | c.2440A>T (p.Ser814Cys) c.2379+2775A>T (n.2379+2775A>T) c.2338A>T (p.Ser780Cys) | |
| 14 | g.50905496T>C | CA389679076 | PYGL | c.2440A>G (p.Ser814Gly) c.2379+2775A>G (n.2379+2775A>G) c.2338A>G (p.Ser780Gly) | |
| 14 | g.50905496T>G | CA389679078 | PYGL | c.2440A>C (p.Ser814Arg) c.2379+2775A>C (n.2379+2775A>C) c.2338A>C (p.Ser780Arg) | |
| 14 | g.50905497G>A | CA486372500 | PYGL | c.2439C>T (p.Ser813=) c.2379+2774C>T (n.2379+2774C>T) c.2337C>T (p.Ser779=) | COSMIC |
| 14 | g.50905497G>C | CA486372501 | PYGL | c.2439C>G (p.Ser813=) c.2379+2774C>G (n.2379+2774C>G) c.2337C>G (p.Ser779=) | |
| 14 | g.50905497G>T | CA486372504 | PYGL | c.2439C>A (p.Ser813=) c.2379+2774C>A (n.2379+2774C>A) c.2337C>A (p.Ser779=) | |
| 14 | g.50905498G>A | CA389679079 | PYGL | c.2438C>T (p.Ser813Phe) c.2379+2773C>T (n.2379+2773C>T) c.2336C>T (p.Ser779Phe) | |
| 14 | g.50905498G>C | CA389679081 | PYGL | c.2438C>G (p.Ser813Cys) c.2379+2773C>G (n.2379+2773C>G) c.2336C>G (p.Ser779Cys) | gnomAD v4 |
| 14 | g.50905498G>T | CA389679083 | PYGL | c.2438C>A (p.Ser813Tyr) c.2379+2773C>A (n.2379+2773C>A) c.2336C>A (p.Ser779Tyr) | |
| 14 | g.50905499A>C | CA389679088 | PYGL | c.2437T>G (p.Ser813Ala) c.2379+2772T>G (n.2379+2772T>G) c.2335T>G (p.Ser779Ala) | |
| 14 | g.50905499A>G | CA389679084 | PYGL | c.2437T>C (p.Ser813Pro) c.2379+2772T>C (n.2379+2772T>C) c.2335T>C (p.Ser779Pro) | |
| 14 | g.50905499A>T | CA389679086 | PYGL | c.2437T>A (p.Ser813Thr) c.2379+2772T>A (n.2379+2772T>A) c.2335T>A (p.Ser779Thr) | |
| 14 | g.50905500G>A | CA486372513 | PYGL | c.2436C>T (p.Phe812=) c.2379+2771C>T (n.2379+2771C>T) c.2334C>T (p.Phe778=) | dbSNP COSMIC |
| 14 | g.50905500G>C | CA389679089 | PYGL | c.2436C>G (p.Phe812Leu) c.2379+2771C>G (n.2379+2771C>G) c.2334C>G (p.Phe778Leu) | |
| 14 | g.50905500G= | CA2136411298 | PYGL | c.2436C= (p.Phe812=) c.2379+2771C= (n.2379+2771C=) c.2334C= (p.Phe778=) | |
| 14 | g.50905500G>T | CA389679091 | PYGL | c.2436C>A (p.Phe812Leu) c.2379+2771C>A (n.2379+2771C>A) c.2334C>A (p.Phe778Leu) | |
| 14 | g.50905501A>C | CA389679093 | PYGL | c.2435T>G (p.Phe812Cys) c.2379+2770T>G (n.2379+2770T>G) c.2333T>G (p.Phe778Cys) | |
| 14 | g.50905501A>G | CA389679094 | PYGL | c.2435T>C (p.Phe812Ser) c.2379+2770T>C (n.2379+2770T>C) c.2333T>C (p.Phe778Ser) | |
| 14 | g.50905501A>T | CA389679096 | PYGL | c.2435T>A (p.Phe812Tyr) c.2379+2770T>A (n.2379+2770T>A) c.2333T>A (p.Phe778Tyr) | |
| 14 | g.50905502A>C | CA389679098 | PYGL | c.2434T>G (p.Phe812Val) c.2379+2769T>G (n.2379+2769T>G) c.2332T>G (p.Phe778Val) | |
| 14 | g.50905502A>G | CA389679099 | PYGL | c.2434T>C (p.Phe812Leu) c.2379+2769T>C (n.2379+2769T>C) c.2332T>C (p.Phe778Leu) | |
| 14 | g.50905502A>T | CA389679101 | PYGL | c.2434T>A (p.Phe812Ile) c.2379+2769T>A (n.2379+2769T>A) c.2332T>A (p.Phe778Ile) | |
| 14 | g.50905503T>A | CA389679103 | PYGL | c.2433A>T (p.Lys811Asn) c.2379+2768A>T (n.2379+2768A>T) c.2331A>T (p.Lys777Asn) | |
| 14 | g.50905503T>C | CA486372526 | PYGL | c.2433A>G (p.Lys811=) c.2379+2768A>G (n.2379+2768A>G) c.2331A>G (p.Lys777=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50905503T>G | CA389679105 | PYGL | c.2433A>C (p.Lys811Asn) c.2379+2768A>C (n.2379+2768A>C) c.2331A>C (p.Lys777Asn) | |
| 14 | g.50905503T= | CA2136411299 | PYGL | c.2433A= (p.Lys811=) c.2379+2768A= (n.2379+2768A=) c.2331A= (p.Lys777=) | |
| 14 | g.50905504T>A | CA389679107 | PYGL | c.2432A>T (p.Lys811Ile) c.2379+2767A>T (n.2379+2767A>T) c.2330A>T (p.Lys777Ile) | |
| 14 | g.50905504T>C | CA389679109 | PYGL | c.2432A>G (p.Lys811Arg) c.2379+2767A>G (n.2379+2767A>G) c.2330A>G (p.Lys777Arg) | |
| 14 | g.50905504T>G | CA389679110 | PYGL | c.2432A>C (p.Lys811Thr) c.2379+2767A>C (n.2379+2767A>C) c.2330A>C (p.Lys777Thr) | |
| 14 | g.50905505T>A | CA389679111 | PYGL | c.2431A>T (p.Lys811Ter) c.2379+2766A>T (n.2379+2766A>T) c.2329A>T (p.Lys777Ter) | |
| 14 | g.50905505T>C | CA389679114 | PYGL | c.2431A>G (p.Lys811Glu) c.2379+2766A>G (n.2379+2766A>G) c.2329A>G (p.Lys777Glu) | |
| 14 | g.50905505T>G | CA389679113 | PYGL | c.2431A>C (p.Lys811Gln) c.2379+2766A>C (n.2379+2766A>C) c.2329A>C (p.Lys777Gln) | |
| 14 | g.50905506C>A | CA7183099 | PYGL | c.2430G>T (p.Gly810=) c.2379+2765G>T (n.2379+2765G>T) c.2328G>T (p.Gly776=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905506C= | CA2136411301 | PYGL | c.2430G= (p.Gly810=) c.2379+2765G= (n.2379+2765G=) c.2328G= (p.Gly776=) | |
| 14 | g.50905506C>G | CA486372540 | PYGL | c.2430G>C (p.Gly810=) c.2379+2765G>C (n.2379+2765G>C) c.2328G>C (p.Gly776=) | gnomAD v4 |
| 14 | g.50905506C>T | CA7183098 | PYGL | c.2430G>A (p.Gly810=) c.2379+2765G>A (n.2379+2765G>A) c.2328G>A (p.Gly776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905507C>A | CA389679117 | PYGL | c.2429G>T (p.Gly810Val) c.2379+2764G>T (n.2379+2764G>T) c.2327G>T (p.Gly776Val) | |
| 14 | g.50905507C>G | CA389679118 | PYGL | c.2429G>C (p.Gly810Ala) c.2379+2764G>C (n.2379+2764G>C) c.2327G>C (p.Gly776Ala) | |
| 14 | g.50905507C>T | CA389679120 | PYGL | c.2429G>A (p.Gly810Glu) c.2379+2764G>A (n.2379+2764G>A) c.2327G>A (p.Gly776Glu) | gnomAD v4 |
| 14 | g.50905508C>A | CA389679122 | PYGL | c.2428G>T (p.Gly810Trp) c.2379+2763G>T (n.2379+2763G>T) c.2326G>T (p.Gly776Trp) | |
| 14 | g.50905508C>G | CA389679124 | PYGL | c.2428G>C (p.Gly810Arg) c.2379+2763G>C (n.2379+2763G>C) c.2326G>C (p.Gly776Arg) | |
| 14 | g.50905508C>T | CA389679125 | PYGL | c.2428G>A (p.Gly810Arg) c.2379+2763G>A (n.2379+2763G>A) c.2326G>A (p.Gly776Arg) | |
| 14 | g.50905509C>A | CA486372553 | PYGL | c.2427G>T (p.Ser809=) c.2379+2762G>T (n.2379+2762G>T) c.2325G>T (p.Ser775=) | |
| 14 | g.50905509C= | CA2136411305 | PYGL | c.2427G= (p.Ser809=) c.2379+2762G= (n.2379+2762G=) c.2325G= (p.Ser775=) | |
| 14 | g.50905509C>G | CA486372556 | PYGL | c.2427G>C (p.Ser809=) c.2379+2762G>C (n.2379+2762G>C) c.2325G>C (p.Ser775=) | |
| 14 | g.50905509C>T | CA7183100 | PYGL | c.2427G>A (p.Ser809=) c.2379+2762G>A (n.2379+2762G>A) c.2325G>A (p.Ser775=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.50905510G>A | CA7183101 | PYGL | c.2426C>T (p.Ser809Leu) c.2379+2761C>T (n.2379+2761C>T) c.2324C>T (p.Ser775Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.50905510G>C | CA389679128 | PYGL | c.2426C>G (p.Ser809Trp) c.2379+2761C>G (n.2379+2761C>G) c.2324C>G (p.Ser775Trp) | |
| 14 | g.50905510G= | CA2136411308 | PYGL | c.2426C= (p.Ser809=) c.2379+2761C= (n.2379+2761C=) c.2324C= (p.Ser775=) | |
| 14 | g.50905510G>T | CA389679130 | PYGL | c.2426C>A (p.Ser809Ter) c.2379+2761C>A (n.2379+2761C>A) c.2324C>A (p.Ser775Ter) | |
| 14 | g.50905511A>C | CA389679136 | PYGL | c.2425T>G (p.Ser809Ala) c.2379+2760T>G (n.2379+2760T>G) c.2323T>G (p.Ser775Ala) | |
| 14 | g.50905511A>G | CA389679134 | PYGL | c.2425T>C (p.Ser809Pro) c.2379+2760T>C (n.2379+2760T>C) c.2323T>C (p.Ser775Pro) | |
| 14 | g.50905511A>T | CA389679132 | PYGL | c.2425T>A (p.Ser809Thr) c.2379+2760T>A (n.2379+2760T>A) c.2323T>A (p.Ser775Thr) | |
| 14 | g.50905512G>A | CA486372566 | PYGL | c.2424C>T (p.Ala808=) c.2379+2759C>T (n.2379+2759C>T) c.2322C>T (p.Ala774=) | |
| 14 | g.50905512G>C | CA486372567 | PYGL | c.2424C>G (p.Ala808=) c.2379+2759C>G (n.2379+2759C>G) c.2322C>G (p.Ala774=) | |
| 14 | g.50905512G>T | CA486372570 | PYGL | c.2424C>A (p.Ala808=) c.2379+2759C>A (n.2379+2759C>A) c.2322C>A (p.Ala774=) | |
| 14 | g.50905513G>A | CA389679137 | PYGL | c.2423C>T (p.Ala808Val) c.2379+2758C>T (n.2379+2758C>T) c.2321C>T (p.Ala774Val) | |
| 14 | g.50905513G>C | CA389679139 | PYGL | c.2423C>G (p.Ala808Gly) c.2379+2758C>G (n.2379+2758C>G) c.2321C>G (p.Ala774Gly) | |
| 14 | g.50905513G>T | CA389679140 | PYGL | c.2423C>A (p.Ala808Asp) c.2379+2758C>A (n.2379+2758C>A) c.2321C>A (p.Ala774Asp) | |
| 14 | g.50905514C>A | CA389679141 | PYGL | c.2422G>T (p.Ala808Ser) c.2379+2757G>T (n.2379+2757G>T) c.2320G>T (p.Ala774Ser) | |
| 14 | g.50905514C= | CA2136411311 | PYGL | c.2422G= (p.Ala808=) c.2379+2757G= (n.2379+2757G=) c.2320G= (p.Ala774=) | |
| 14 | g.50905514C>G | CA389679142 | PYGL | c.2422G>C (p.Ala808Pro) c.2379+2757G>C (n.2379+2757G>C) c.2320G>C (p.Ala774Pro) | dbSNP gnomAD v4 |
| 14 | g.50905514C>T | CA389679143 | PYGL | c.2422G>A (p.Ala808Thr) c.2379+2757G>A (n.2379+2757G>A) c.2320G>A (p.Ala774Thr) | |
| 14 | g.50905515A>C | CA486372583 | PYGL | c.2421T>G (p.Ala807=) c.2379+2756T>G (n.2379+2756T>G) c.2319T>G (p.Ala773=) | |
| 14 | g.50905515A>G | CA486372587 | PYGL | c.2421T>C (p.Ala807=) c.2379+2756T>C (n.2379+2756T>C) c.2319T>C (p.Ala773=) | |
| 14 | g.50905515A>T | CA486372585 | PYGL | c.2421T>A (p.Ala807=) c.2379+2756T>A (n.2379+2756T>A) c.2319T>A (p.Ala773=) | |
| 14 | g.50905516G>A | CA389679144 | PYGL | c.2420C>T (p.Ala807Val) c.2379+2755C>T (n.2379+2755C>T) c.2318C>T (p.Ala773Val) | |
| 14 | g.50905516G>C | CA389679145 | PYGL | c.2420C>G (p.Ala807Gly) c.2379+2755C>G (n.2379+2755C>G) c.2318C>G (p.Ala773Gly) | gnomAD v4 |
| 14 | g.50905516G>T | CA389679146 | PYGL | c.2420C>A (p.Ala807Asp) c.2379+2755C>A (n.2379+2755C>A) c.2318C>A (p.Ala773Asp) | |
| 14 | g.50905517C>A | CA389679147 | PYGL | c.2419G>T (p.Ala807Ser) c.2379+2754G>T (n.2379+2754G>T) c.2317G>T (p.Ala773Ser) | |
| 14 | g.50905517C= | CA2136411314 | PYGL | c.2419G= (p.Ala807=) c.2379+2754G= (n.2379+2754G=) c.2317G= (p.Ala773=) | |
| 14 | g.50905517C>G | CA389679148 | PYGL | c.2419G>C (p.Ala807Pro) c.2379+2754G>C (n.2379+2754G>C) c.2317G>C (p.Ala773Pro) | dbSNP gnomAD v4 |
| 14 | g.50905517C>T | CA389679149 | PYGL | c.2419G>A (p.Ala807Thr) c.2379+2754G>A (n.2379+2754G>A) c.2317G>A (p.Ala773Thr) | |
| 14 | g.50905518T>A | CA486372609 | PYGL | c.2418A>T (p.Ile806=) c.2379+2753A>T (n.2379+2753A>T) c.2316A>T (p.Ile772=) | dbSNP |
| 14 | g.50905518T>C | CA389679150 | PYGL | c.2418A>G (p.Ile806Met) c.2379+2753A>G (n.2379+2753A>G) c.2316A>G (p.Ile772Met) | gnomAD v4 |
| 14 | g.50905518T>G | CA486372614 | PYGL | c.2418A>C (p.Ile806=) c.2379+2753A>C (n.2379+2753A>C) c.2316A>C (p.Ile772=) | |
| 14 | g.50905518T= | CA2136411316 | PYGL | c.2418A= (p.Ile806=) c.2379+2753A= (n.2379+2753A=) c.2316A= (p.Ile772=) | |
| 14 | g.50905519_50905520del | CA2695219346 | PYGL | c.2417_2418del (p.Ile806SerfsTer9) c.2379+2752_2379+2753del (n.2379+2752_2379+2753del) c.2315_2316del (p.Ile772SerfsTer9) | |
| 14 | g.50905519A>C | CA389679152 | PYGL | c.2417T>G (p.Ile806Arg) c.2379+2752T>G (n.2379+2752T>G) c.2315T>G (p.Ile772Arg) | |
| 14 | g.50905519A>G | CA389679153 | PYGL | c.2417T>C (p.Ile806Thr) c.2379+2752T>C (n.2379+2752T>C) c.2315T>C (p.Ile772Thr) | |
| 14 | g.50905519A>T | CA389679151 | PYGL | c.2417T>A (p.Ile806Lys) c.2379+2752T>A (n.2379+2752T>A) c.2315T>A (p.Ile772Lys) | |
| 14 | g.50905519dup | CA2624823584 | PYGL | c.2417dup (p.Ala807SerfsTer9) c.2379+2752dup (n.2379+2752dup) c.2315dup (p.Ala773SerfsTer9) | gnomAD v4 |
| 14 | g.50905520T>A | CA7183102 | PYGL | c.2416A>T (p.Ile806Leu) c.2379+2751A>T (n.2379+2751A>T) c.2314A>T (p.Ile772Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905520T>C | CA389679154 | PYGL | c.2416A>G (p.Ile806Val) c.2379+2751A>G (n.2379+2751A>G) c.2314A>G (p.Ile772Val) | |
| 14 | g.50905520T>G | CA389679155 | PYGL | c.2416A>C (p.Ile806Leu) c.2379+2751A>C (n.2379+2751A>C) c.2314A>C (p.Ile772Leu) | |
| 14 | g.50905520T= | CA2136411320 | PYGL | c.2416A= (p.Ile806=) c.2379+2751A= (n.2379+2751A=) c.2314A= (p.Ile772=) | |
| 14 | g.50905521G>A | CA486372638 | PYGL | c.2415C>T (p.Asn805=) c.2379+2750C>T (n.2379+2750C>T) c.2313C>T (p.Asn771=) | |
| 14 | g.50905521G>C | CA389679156 | PYGL | c.2415C>G (p.Asn805Lys) c.2379+2750C>G (n.2379+2750C>G) c.2313C>G (p.Asn771Lys) | |
| 14 | g.50905521G>T | CA389679157 | PYGL | c.2415C>A (p.Asn805Lys) c.2379+2750C>A (n.2379+2750C>A) c.2313C>A (p.Asn771Lys) | |
| 14 | g.50905522T>A | CA389679158 | PYGL | c.2414A>T (p.Asn805Ile) c.2379+2749A>T (n.2379+2749A>T) c.2312A>T (p.Asn771Ile) | |
| 14 | g.50905522T>C | CA389679159 | PYGL | c.2414A>G (p.Asn805Ser) c.2379+2749A>G (n.2379+2749A>G) c.2312A>G (p.Asn771Ser) | |
| 14 | g.50905522T>G | CA389679160 | PYGL | c.2414A>C (p.Asn805Thr) c.2379+2749A>C (n.2379+2749A>C) c.2312A>C (p.Asn771Thr) | |
| 14 | g.50905526del | CA645589806 | PYGL | c.2414del (p.Asn805ThrfsTer2) c.2379+2749del (n.2379+2749del) c.2312del (p.Asn771ThrfsTer2) | COSMIC |
| 14 | g.50905523T>A | CA389679161 | PYGL | c.2413A>T (p.Asn805Tyr) c.2379+2748A>T (n.2379+2748A>T) c.2311A>T (p.Asn771Tyr) | |
| 14 | g.50905523T>C | CA389679162 | PYGL | c.2413A>G (p.Asn805Asp) c.2379+2748A>G (n.2379+2748A>G) c.2311A>G (p.Asn771Asp) | |
| 14 | g.50905523T>G | CA389679163 | PYGL | c.2413A>C (p.Asn805His) c.2379+2748A>C (n.2379+2748A>C) c.2311A>C (p.Asn771His) | |
| 14 | g.50905524T>A | CA389679164 | PYGL | c.2412A>T (p.Lys804Asn) c.2379+2747A>T (n.2379+2747A>T) c.2310A>T (p.Lys770Asn) | |
| 14 | g.50905524T>C | CA486372668 | PYGL | c.2412A>G (p.Lys804=) c.2379+2747A>G (n.2379+2747A>G) c.2310A>G (p.Lys770=) | COSMIC |
| 14 | g.50905524T>G | CA389679165 | PYGL | c.2412A>C (p.Lys804Asn) c.2379+2747A>C (n.2379+2747A>C) c.2310A>C (p.Lys770Asn) | |
| 14 | g.50905525T>A | CA389679166 | PYGL | c.2411A>T (p.Lys804Ile) c.2379+2746A>T (n.2379+2746A>T) c.2309A>T (p.Lys770Ile) | |
| 14 | g.50905525T>C | CA389679167 | PYGL | c.2411A>G (p.Lys804Arg) c.2379+2746A>G (n.2379+2746A>G) c.2309A>G (p.Lys770Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905525T>G | CA389679168 | PYGL | c.2411A>C (p.Lys804Thr) c.2379+2746A>C (n.2379+2746A>C) c.2309A>C (p.Lys770Thr) | |
| 14 | g.50905525T= | CA2136411326 | PYGL | c.2411A= (p.Lys804=) c.2379+2746A= (n.2379+2746A=) c.2309A= (p.Lys770=) | |
| 14 | g.50905526T>A | CA389679169 | PYGL | c.2410A>T (p.Lys804Ter) c.2379+2745A>T (n.2379+2745A>T) c.2308A>T (p.Lys770Ter) | |
| 14 | g.50905526T>C | CA389679170 | PYGL | c.2410A>G (p.Lys804Glu) c.2379+2745A>G (n.2379+2745A>G) c.2308A>G (p.Lys770Glu) | |
| 14 | g.50905526T>G | CA389679171 | PYGL | c.2410A>C (p.Lys804Gln) c.2379+2745A>C (n.2379+2745A>C) c.2308A>C (p.Lys770Gln) | |
| 14 | g.50905527G>A | CA486372702 | PYGL | c.2409C>T (p.Leu803=) c.2379+2744C>T (n.2379+2744C>T) c.2307C>T (p.Leu769=) | |
| 14 | g.50905527G>C | CA7183103 | PYGL | c.2409C>G (p.Leu803=) c.2379+2744C>G (n.2379+2744C>G) c.2307C>G (p.Leu769=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50905527G= | CA2136411329 | PYGL | c.2409C= (p.Leu803=) c.2379+2744C= (n.2379+2744C=) c.2307C= (p.Leu769=) | |
| 14 | g.50905527G>T | CA486372709 | PYGL | c.2409C>A (p.Leu803=) c.2379+2744C>A (n.2379+2744C>A) c.2307C>A (p.Leu769=) | |
| 14 | g.50905528A>C | CA389679172 | PYGL | c.2408T>G (p.Leu803Arg) c.2379+2743T>G (n.2379+2743T>G) c.2306T>G (p.Leu769Arg) | COSMIC |
| 14 | g.50905528A>G | CA389679173 | PYGL | c.2408T>C (p.Leu803Pro) c.2379+2743T>C (n.2379+2743T>C) c.2306T>C (p.Leu769Pro) | |
| 14 | g.50905528A>T | CA389679174 | PYGL | c.2408T>A (p.Leu803His) c.2379+2743T>A (n.2379+2743T>A) c.2306T>A (p.Leu769His) | |
| 14 | g.50905529G>A | CA389679175 | PYGL | c.2407C>T (p.Leu803Phe) c.2379+2742C>T (n.2379+2742C>T) c.2305C>T (p.Leu769Phe) | |
| 14 | g.50905529G>C | CA389679176 | PYGL | c.2407C>G (p.Leu803Val) c.2379+2742C>G (n.2379+2742C>G) c.2305C>G (p.Leu769Val) | |
| 14 | g.50905529G>T | CA389679177 | PYGL | c.2407C>A (p.Leu803Ile) c.2379+2742C>A (n.2379+2742C>A) c.2305C>A (p.Leu769Ile) | |
| 14 | g.50905530T>A | CA486372738 | PYGL | c.2406A>T (p.Val802=) c.2379+2741A>T (n.2379+2741A>T) c.2304A>T (p.Val768=) | |
| 14 | g.50905530T>C | CA7183104 | PYGL | c.2406A>G (p.Val802=) c.2379+2741A>G (n.2379+2741A>G) c.2304A>G (p.Val768=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905530T>G | CA486372744 | PYGL | c.2406A>C (p.Val802=) c.2379+2741A>C (n.2379+2741A>C) c.2304A>C (p.Val768=) | |
| 14 | g.50905530T= | CA2136411331 | PYGL | c.2406A= (p.Val802=) c.2379+2741A= (n.2379+2741A=) c.2304A= (p.Val768=) | |
| 14 | g.50905531del | CA2624823614 | PYGL | c.2405del (p.Val802AspfsTer5) c.2379+2740del (n.2379+2740del) c.2303del (p.Val768AspfsTer5) | gnomAD v4 |
| 14 | g.50905531A>C | CA389679178 | PYGL | c.2405T>G (p.Val802Gly) c.2379+2740T>G (n.2379+2740T>G) c.2303T>G (p.Val768Gly) | |
| 14 | g.50905531A>G | CA389679179 | PYGL | c.2405T>C (p.Val802Ala) c.2379+2740T>C (n.2379+2740T>C) c.2303T>C (p.Val768Ala) | |
| 14 | g.50905531A>T | CA389679180 | PYGL | c.2405T>A (p.Val802Glu) c.2379+2740T>A (n.2379+2740T>A) c.2303T>A (p.Val768Glu) | |
| 14 | g.50905532C>A | CA389679181 | PYGL | c.2404G>T (p.Val802Leu) c.2379+2739G>T (n.2379+2739G>T) c.2302G>T (p.Val768Leu) | dbSNP |
| 14 | g.50905532C= | CA2136411333 | PYGL | c.2404G= (p.Val802=) c.2379+2739G= (n.2379+2739G=) c.2302G= (p.Val768=) | |
| 14 | g.50905532C>G | CA389679182 | PYGL | c.2404G>C (p.Val802Leu) c.2379+2739G>C (n.2379+2739G>C) c.2302G>C (p.Val768Leu) | |
| 14 | g.50905532C>T | CA389679183 | PYGL | c.2404G>A (p.Val802Ile) c.2379+2739G>A (n.2379+2739G>A) c.2302G>A (p.Val768Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50905533C>A | CA389679184 | PYGL | c.2403G>T (p.Met801Ile) c.2379+2738G>T (n.2379+2738G>T) c.2301G>T (p.Met767Ile) | |
| 14 | g.50905533C= | CA2136411336 | PYGL | c.2403G= (p.Met801=) c.2379+2738G= (n.2379+2738G=) c.2301G= (p.Met767=) | |
| 14 | g.50905533C>G | CA389679185 | PYGL | c.2403G>C (p.Met801Ile) c.2379+2738G>C (n.2379+2738G>C) c.2301G>C (p.Met767Ile) | |
| 14 | g.50905533C>T | CA7183105 | PYGL | c.2403G>A (p.Met801Ile) c.2379+2738G>A (n.2379+2738G>A) c.2301G>A (p.Met767Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905534A>C | CA389679186 | PYGL | c.2402T>G (p.Met801Arg) c.2379+2737T>G (n.2379+2737T>G) c.2300T>G (p.Met767Arg) | |
| 14 | g.50905534A>G | CA389679187 | PYGL | c.2402T>C (p.Met801Thr) c.2379+2737T>C (n.2379+2737T>C) c.2300T>C (p.Met767Thr) | gnomAD v4 |
| 14 | g.50905534A>T | CA389679188 | PYGL | c.2402T>A (p.Met801Lys) c.2379+2737T>A (n.2379+2737T>A) c.2300T>A (p.Met767Lys) | |
| 14 | g.50905535T>A | CA389679189 | PYGL | c.2401A>T (p.Met801Leu) c.2379+2736A>T (n.2379+2736A>T) c.2299A>T (p.Met767Leu) | |
| 14 | g.50905535T>C | CA7183106 | PYGL | c.2401A>G (p.Met801Val) c.2379+2736A>G (n.2379+2736A>G) c.2299A>G (p.Met767Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905535T>G | CA389679190 | PYGL | c.2401A>C (p.Met801Leu) c.2379+2736A>C (n.2379+2736A>C) c.2299A>C (p.Met767Leu) | |
| 14 | g.50905535T= | CA2136411340 | PYGL | c.2401A= (p.Met801=) c.2379+2736A= (n.2379+2736A=) c.2299A= (p.Met767=) |