Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
14 | g.50905536T>A | CA486372798 | PYGL | c.2400A>T (p.Thr800=) c.2379+2735A>T (n.2379+2735A>T) c.2298A>T (p.Thr766=) | |
14 | g.50905536T>C | CA486372800 | PYGL | c.2400A>G (p.Thr800=) c.2379+2735A>G (n.2379+2735A>G) c.2298A>G (p.Thr766=) | |
14 | g.50905536T>G | CA486372803 | PYGL | c.2400A>C (p.Thr800=) c.2379+2735A>C (n.2379+2735A>C) c.2298A>C (p.Thr766=) | |
14 | g.50905537G>A | CA389679191 | PYGL | c.2399C>T (p.Thr800Ile) c.2379+2734C>T (n.2379+2734C>T) c.2297C>T (p.Thr766Ile) | |
14 | g.50905537G>C | CA389679192 | PYGL | c.2399C>G (p.Thr800Arg) c.2379+2734C>G (n.2379+2734C>G) c.2297C>G (p.Thr766Arg) | |
14 | g.50905537G>T | CA389679193 | PYGL | c.2399C>A (p.Thr800Lys) c.2379+2734C>A (n.2379+2734C>A) c.2297C>A (p.Thr766Lys) | |
14 | g.50905538T>A | CA389679194 | PYGL | c.2398A>T (p.Thr800Ser) c.2379+2733A>T (n.2379+2733A>T) c.2296A>T (p.Thr766Ser) | |
14 | g.50905538T>C | CA389679195 | PYGL | c.2398A>G (p.Thr800Ala) c.2379+2733A>G (n.2379+2733A>G) c.2296A>G (p.Thr766Ala) | |
14 | g.50905538T>G | CA389679196 | PYGL | c.2398A>C (p.Thr800Pro) c.2379+2733A>C (n.2379+2733A>C) c.2296A>C (p.Thr766Pro) | |
14 | g.50905539G>A | CA486372823 | PYGL | c.2397C>T (p.Asn799=) c.2379+2732C>T (n.2379+2732C>T) c.2295C>T (p.Asn765=) | |
14 | g.50905539G>C | CA389679198 | PYGL | c.2397C>G (p.Asn799Lys) c.2379+2732C>G (n.2379+2732C>G) c.2295C>G (p.Asn765Lys) | |
14 | g.50905539G>T | CA389679197 | PYGL | c.2397C>A (p.Asn799Lys) c.2379+2732C>A (n.2379+2732C>A) c.2295C>A (p.Asn765Lys) | |
14 | g.50905540T>A | CA389679199 | PYGL | c.2396A>T (p.Asn799Ile) c.2379+2731A>T (n.2379+2731A>T) c.2294A>T (p.Asn765Ile) | |
14 | g.50905540T>C | CA389679200 | PYGL | c.2396A>G (p.Asn799Ser) c.2379+2731A>G (n.2379+2731A>G) c.2294A>G (p.Asn765Ser) | |
14 | g.50905540T>G | CA389679201 | PYGL | c.2396A>C (p.Asn799Thr) c.2379+2731A>C (n.2379+2731A>C) c.2294A>C (p.Asn765Thr) | |
14 | g.50905541T>A | CA389679202 | PYGL | c.2395A>T (p.Asn799Tyr) c.2379+2730A>T (n.2379+2730A>T) c.2293A>T (p.Asn765Tyr) | |
14 | g.50905541T>C | CA389679203 | PYGL | c.2395A>G (p.Asn799Asp) c.2379+2730A>G (n.2379+2730A>G) c.2293A>G (p.Asn765Asp) | |
14 | g.50905541T>G | CA389679204 | PYGL | c.2395A>C (p.Asn799His) c.2379+2730A>C (n.2379+2730A>C) c.2293A>C (p.Asn765His) | |
14 | g.50905542C>A | CA389679205 | PYGL | c.2394G>T (p.Trp798Cys) c.2379+2729G>T (n.2379+2729G>T) c.2292G>T (p.Trp764Cys) | |
14 | g.50905542C>G | CA389679206 | PYGL | c.2394G>C (p.Trp798Cys) c.2379+2729G>C (n.2379+2729G>C) c.2292G>C (p.Trp764Cys) | |
14 | g.50905542C>T | CA389679207 | PYGL | c.2394G>A (p.Trp798Ter) c.2379+2729G>A (n.2379+2729G>A) c.2292G>A (p.Trp764Ter) | gnomAD v4 |
14 | g.50905543C>A | CA389679208 | PYGL | c.2393G>T (p.Trp798Leu) c.2379+2728G>T (n.2379+2728G>T) c.2291G>T (p.Trp764Leu) | |
14 | g.50905543C>G | CA389679209 | PYGL | c.2393G>C (p.Trp798Ser) c.2379+2728G>C (n.2379+2728G>C) c.2291G>C (p.Trp764Ser) | |
14 | g.50905543C>T | CA389679210 | PYGL | c.2393G>A (p.Trp798Ter) c.2379+2728G>A (n.2379+2728G>A) c.2291G>A (p.Trp764Ter) | |
14 | g.50905544A= | CA2136411344 | PYGL | c.2392T= (p.Trp798=) c.2379+2727T= (n.2379+2727T=) c.2290T= (p.Trp764=) | |
14 | g.50905544A>C | CA389679212 | PYGL | c.2392T>G (p.Trp798Gly) c.2379+2727T>G (n.2379+2727T>G) c.2290T>G (p.Trp764Gly) | dbSNP gnomAD v4 |
14 | g.50905544A>G | CA389679213 | PYGL | c.2392T>C (p.Trp798Arg) c.2379+2727T>C (n.2379+2727T>C) c.2290T>C (p.Trp764Arg) | |
14 | g.50905544A>T | CA389679211 | PYGL | c.2392T>A (p.Trp798Arg) c.2379+2727T>A (n.2379+2727T>A) c.2290T>A (p.Trp764Arg) | |
14 | g.50905545G>A | CA486372871 | PYGL | c.2391C>T (p.Ala797=) c.2379+2726C>T (n.2379+2726C>T) c.2289C>T (p.Ala763=) | |
14 | g.50905545G>C | CA486372869 | PYGL | c.2391C>G (p.Ala797=) c.2379+2726C>G (n.2379+2726C>G) c.2289C>G (p.Ala763=) | |
14 | g.50905545G>T | CA486372868 | PYGL | c.2391C>A (p.Ala797=) c.2379+2726C>A (n.2379+2726C>A) c.2289C>A (p.Ala763=) | |
14 | g.50905546G>A | CA389679216 | PYGL | c.2390C>T (p.Ala797Val) c.2379+2725C>T (n.2379+2725C>T) c.2288C>T (p.Ala763Val) | |
14 | g.50905546G>C | CA389679214 | PYGL | c.2390C>G (p.Ala797Gly) c.2379+2725C>G (n.2379+2725C>G) c.2288C>G (p.Ala763Gly) | |
14 | g.50905546G>T | CA389679215 | PYGL | c.2390C>A (p.Ala797Asp) c.2379+2725C>A (n.2379+2725C>A) c.2288C>A (p.Ala763Asp) | |
14 | g.50905547C>A | CA389679217 | PYGL | c.2389G>T (p.Ala797Ser) c.2379+2724G>T (n.2379+2724G>T) c.2287G>T (p.Ala763Ser) | dbSNP |
14 | g.50905547C= | CA2136411346 | PYGL | c.2389G= (p.Ala797=) c.2379+2724G= (n.2379+2724G=) c.2287G= (p.Ala763=) | |
14 | g.50905547C>G | CA389679218 | PYGL | c.2389G>C (p.Ala797Pro) c.2379+2724G>C (n.2379+2724G>C) c.2287G>C (p.Ala763Pro) | gnomAD v4 |
14 | g.50905547C>T | CA260818925 | PYGL | c.2389G>A (p.Ala797Thr) c.2379+2724G>A (n.2379+2724G>A) c.2287G>A (p.Ala763Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50905548C>A | CA389679219 | PYGL | c.2388G>T (p.Lys796Asn) c.2379+2723G>T (n.2379+2723G>T) c.2286G>T (p.Lys762Asn) | |
14 | g.50905548C>G | CA389679220 | PYGL | c.2388G>C (p.Lys796Asn) c.2379+2723G>C (n.2379+2723G>C) c.2286G>C (p.Lys762Asn) | |
14 | g.50905548C>T | CA486372880 | PYGL | c.2388G>A (p.Lys796=) c.2379+2723G>A (n.2379+2723G>A) c.2286G>A (p.Lys762=) | |
14 | g.50905549T>A | CA389679221 | PYGL | c.2387A>T (p.Lys796Met) c.2379+2722A>T (n.2379+2722A>T) c.2285A>T (p.Lys762Met) | |
14 | g.50905549T>C | CA389679222 | PYGL | c.2387A>G (p.Lys796Arg) c.2379+2722A>G (n.2379+2722A>G) c.2285A>G (p.Lys762Arg) | |
14 | g.50905549T>G | CA389679223 | PYGL | c.2387A>C (p.Lys796Thr) c.2379+2722A>C (n.2379+2722A>C) c.2285A>C (p.Lys762Thr) | |
14 | g.50905550T>A | CA389679224 | PYGL | c.2386A>T (p.Lys796Ter) c.2379+2721A>T (n.2379+2721A>T) c.2284A>T (p.Lys762Ter) | |
14 | g.50905550T>C | CA389679225 | PYGL | c.2386A>G (p.Lys796Glu) c.2379+2721A>G (n.2379+2721A>G) c.2284A>G (p.Lys762Glu) | |
14 | g.50905550T>G | CA389679226 | PYGL | c.2386A>C (p.Lys796Gln) c.2379+2721A>C (n.2379+2721A>C) c.2284A>C (p.Lys762Gln) | |
14 | g.50905551T>A | CA486372886 | PYGL | c.2385A>T (p.Pro795=) c.2379+2720A>T (n.2379+2720A>T) c.2283A>T (p.Pro761=) | |
14 | g.50905551T>C | CA486372892 | PYGL | c.2385A>G (p.Pro795=) c.2379+2720A>G (n.2379+2720A>G) c.2283A>G (p.Pro761=) | |
14 | g.50905551T>G | CA486372890 | PYGL | c.2385A>C (p.Pro795=) c.2379+2720A>C (n.2379+2720A>C) c.2283A>C (p.Pro761=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50905551T= | CA2136411349 | PYGL | c.2385A= (p.Pro795=) c.2379+2720A= (n.2379+2720A=) c.2283A= (p.Pro761=) | |
14 | g.50905552G>A | CA389679227 | PYGL | c.2384C>T (p.Pro795Leu) c.2379+2719C>T (n.2379+2719C>T) c.2282C>T (p.Pro761Leu) | |
14 | g.50905552G>C | CA389679229 | PYGL | c.2384C>G (p.Pro795Arg) c.2379+2719C>G (n.2379+2719C>G) c.2282C>G (p.Pro761Arg) | |
14 | g.50905552G>T | CA389679228 | PYGL | c.2384C>A (p.Pro795Gln) c.2379+2719C>A (n.2379+2719C>A) c.2282C>A (p.Pro761Gln) | |
14 | g.50905553G>A | CA389679230 | PYGL | c.2383C>T (p.Pro795Ser) c.2379+2718C>T (n.2379+2718C>T) c.2281C>T (p.Pro761Ser) | |
14 | g.50905553G>C | CA389679231 | PYGL | c.2383C>G (p.Pro795Ala) c.2379+2718C>G (n.2379+2718C>G) c.2281C>G (p.Pro761Ala) | |
14 | g.50905553G>T | CA389679232 | PYGL | c.2383C>A (p.Pro795Thr) c.2379+2718C>A (n.2379+2718C>A) c.2281C>A (p.Pro761Thr) | |
14 | g.50905554A= | CA2136411351 | PYGL | c.2382T= (p.Asn794=) c.2379+2717T= (n.2379+2717T=) c.2280T= (p.Asn760=) | |
14 | g.50905554A>C | CA260818929 | PYGL | c.2382T>G (p.Asn794Lys) c.2379+2717T>G (n.2379+2717T>G) c.2280T>G (p.Asn760Lys) | dbSNP |
14 | g.50905554A>G | CA486372906 | PYGL | c.2382T>C (p.Asn794=) c.2379+2717T>C (n.2379+2717T>C) c.2280T>C (p.Asn760=) | |
14 | g.50905554A>T | CA389679233 | PYGL | c.2382T>A (p.Asn794Lys) c.2379+2717T>A (n.2379+2717T>A) c.2280T>A (p.Asn760Lys) | |
14 | g.50905555T>A | CA389679234 | PYGL | c.2381A>T (p.Asn794Ile) c.2379+2716A>T (n.2379+2716A>T) c.2279A>T (p.Asn760Ile) | |
14 | g.50905555T>C | CA389679235 | PYGL | c.2381A>G (p.Asn794Ser) c.2379+2716A>G (n.2379+2716A>G) c.2279A>G (p.Asn760Ser) | gnomAD v4 |
14 | g.50905555T>G | CA389679236 | PYGL | c.2381A>C (p.Asn794Thr) c.2379+2716A>C (n.2379+2716A>C) c.2279A>C (p.Asn760Thr) | |
14 | g.50905556T>A | CA389679237 | PYGL | c.2380A>T (p.Asn794Tyr) c.2379+2715A>T (n.2379+2715A>T) c.2278A>T (p.Asn760Tyr) | |
14 | g.50905556T>C | CA389679238 | PYGL | c.2380A>G (p.Asn794Asp) c.2379+2715A>G (n.2379+2715A>G) c.2278A>G (p.Asn760Asp) | |
14 | g.50905556T>G | CA389679239 | PYGL | c.2380A>C (p.Asn794His) c.2379+2715A>C (n.2379+2715A>C) c.2278A>C (p.Asn760His) | |
14 | g.50905557C>A | CA389679241 | PYGL | c.2380-1G>T (n.2380-1G>T) c.2379+2714G>T (n.2379+2714G>T) c.2278-1G>T (n.2278-1G>T) | gnomAD v4 COSMIC |
14 | g.50905557C= | CA2136411353 | PYGL | c.2380-1G= (n.2380-1G=) c.2379+2714G= (n.2379+2714G=) c.2278-1G= (n.2278-1G=) | |
14 | g.50905557C>G | CA389679242 | PYGL | c.2380-1G>C (n.2380-1G>C) c.2379+2714G>C (n.2379+2714G>C) c.2278-1G>C (n.2278-1G>C) | |
14 | g.50905557C>T | CA389679240 | PYGL | c.2380-1G>A (n.2380-1G>A) c.2379+2714G>A (n.2379+2714G>A) c.2278-1G>A (n.2278-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50905558T>A | CA389679243 | PYGL | c.2380-2A>T (n.2380-2A>T) c.2379+2713A>T (n.2379+2713A>T) c.2278-2A>T (n.2278-2A>T) | |
14 | g.50905558T>C | CA389679244 | PYGL | c.2380-2A>G (n.2380-2A>G) c.2379+2713A>G (n.2379+2713A>G) c.2278-2A>G (n.2278-2A>G) | |
14 | g.50905558T>G | CA389679245 | PYGL | c.2380-2A>C (n.2380-2A>C) c.2379+2713A>C (n.2379+2713A>C) c.2278-2A>C (n.2278-2A>C) | |
14 | g.50905559G>A | CA7183107 | PYGL | c.2380-3C>T (n.2380-3C>T) c.2379+2712C>T (n.2379+2712C>T) c.2278-3C>T (n.2278-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50905559G= | CA2136411355 | PYGL | c.2380-3C= (n.2380-3C=) c.2379+2712C= (n.2379+2712C=) c.2278-3C= (n.2278-3C=) | |
14 | g.50905561_50905564delinsAAAC | CA2136411357 | PYGL | c.2380-8_2380-5delinsGTTT (n.2380-8_2380-5delinsGTTT) c.2379+2707_2379+2710delinsGTTT (n.2379+2707_2379+2710delinsGTTT) c.2278-8_2278-5delinsGTTT (n.2278-8_2278-5delinsGTTT) | |
14 | g.50905562A= | CA2136411359 | PYGL | c.2380-6T= (n.2380-6T=) c.2379+2709T= (n.2379+2709T=) c.2278-6T= (n.2278-6T=) | |
14 | g.50905562A>G | CA7183108 | PYGL | c.2380-6T>C (n.2380-6T>C) c.2379+2709T>C (n.2379+2709T>C) c.2278-6T>C (n.2278-6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50905566_50905568del | CA614275178 | PYGL | c.2380-8_2380-6del (n.2380-8_2380-6del) c.2379+2707_2379+2709del (n.2379+2707_2379+2709del) c.2278-8_2278-6del (n.2278-8_2278-6del) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50905564C>T | CA2624823697 | PYGL | c.2380-8G>A (n.2380-8G>A) c.2379+2707G>A (n.2379+2707G>A) c.2278-8G>A (n.2278-8G>A) | gnomAD v4 |
14 | g.50905565A= | CA2136411364 | PYGL | c.2380-9T= (n.2380-9T=) c.2379+2706T= (n.2379+2706T=) c.2278-9T= (n.2278-9T=) | |
14 | g.50905565A>G | CA7183109 | PYGL | c.2380-9T>C (n.2380-9T>C) c.2379+2706T>C (n.2379+2706T>C) c.2278-9T>C (n.2278-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50905567C>T | CA2541824033 | PYGL | c.2380-11G>A (n.2380-11G>A) c.2379+2704G>A (n.2379+2704G>A) c.2278-11G>A (n.2278-11G>A) | |
14 | g.50905568A= | CA2136411368 | PYGL | c.2380-12T= (n.2380-12T=) c.2379+2703T= (n.2379+2703T=) c.2278-12T= (n.2278-12T=) | |
14 | g.50905568A>G | CA7183110 | PYGL | c.2380-12T>C (n.2380-12T>C) c.2379+2703T>C (n.2379+2703T>C) c.2278-12T>C (n.2278-12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50905569T>C | CA7183111 | PYGL | c.2380-13A>G (n.2380-13A>G) c.2379+2702A>G (n.2379+2702A>G) c.2278-13A>G (n.2278-13A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50905569T= | CA2136411370 | PYGL | c.2380-13A= (n.2380-13A=) c.2379+2702A= (n.2379+2702A=) c.2278-13A= (n.2278-13A=) | |
14 | g.50905570A>G | CA2624823709 | PYGL | c.2380-14T>C (n.2380-14T>C) c.2379+2701T>C (n.2379+2701T>C) c.2278-14T>C (n.2278-14T>C) | dbSNP gnomAD v4 |
14 | g.50905571T>C | CA10634937 | PYGL | c.2380-15A>G (n.2380-15A>G) c.2379+2700A>G (n.2379+2700A>G) c.2278-15A>G (n.2278-15A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.50905571T= | CA2136411373 | PYGL | c.2380-15A= (n.2380-15A=) c.2379+2700A= (n.2379+2700A=) c.2278-15A= (n.2278-15A=) | |
14 | g.50905574A= | CA2136411378 | PYGL | c.2380-18T= (n.2380-18T=) c.2379+2697T= (n.2379+2697T=) c.2278-18T= (n.2278-18T=) | |
14 | g.50905574A>G | CA614275179 | PYGL | c.2380-18T>C (n.2380-18T>C) c.2379+2697T>C (n.2379+2697T>C) c.2278-18T>C (n.2278-18T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50905575T>C | CA614275180 | PYGL | c.2380-19A>G (n.2380-19A>G) c.2379+2696A>G (n.2379+2696A>G) c.2278-19A>G (n.2278-19A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50905575T= | CA2136411382 | PYGL | c.2380-19A= (n.2380-19A=) c.2379+2696A= (n.2379+2696A=) c.2278-19A= (n.2278-19A=) | |
14 | g.50905576A>G | CA2801553805 | PYGL | c.2380-20T>C (n.2380-20T>C) c.2379+2695T>C (n.2379+2695T>C) c.2278-20T>C (n.2278-20T>C) | |
14 | g.50905577T>C | CA2624823724 | PYGL | c.2380-21A>G (n.2380-21A>G) c.2379+2694A>G (n.2379+2694A>G) c.2278-21A>G (n.2278-21A>G) | gnomAD v4 |
14 | g.50905578A= | CA2136411384 | PYGL | c.2380-22T= (n.2380-22T=) c.2379+2693T= (n.2379+2693T=) c.2278-22T= (n.2278-22T=) | |
14 | g.50905578A>G | CA614275181 | PYGL | c.2380-22T>C (n.2380-22T>C) c.2379+2693T>C (n.2379+2693T>C) c.2278-22T>C (n.2278-22T>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50905578dup | CA2624823729 | PYGL | c.2380-22dup (n.2380-22dup) c.2379+2693dup (n.2379+2693dup) c.2278-22dup (n.2278-22dup) | gnomAD v4 |
14 | g.50905579C= | CA2136411386 | PYGL | c.2380-23G= (n.2380-23G=) c.2379+2692G= (n.2379+2692G=) c.2278-23G= (n.2278-23G=) | |
14 | g.50905579C>T | CA614275182 | PYGL | c.2380-23G>A (n.2380-23G>A) c.2379+2692G>A (n.2379+2692G>A) c.2278-23G>A (n.2278-23G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50905580A= | CA2136411390 | PYGL | c.2380-24T= (n.2380-24T=) c.2379+2691T= (n.2379+2691T=) c.2278-24T= (n.2278-24T=) | |
14 | g.50905580A>C | CA2801553806 | PYGL | c.2380-24T>G (n.2380-24T>G) c.2379+2691T>G (n.2379+2691T>G) c.2278-24T>G (n.2278-24T>G) | |
14 | g.50905580A>G | CA706601844 | PYGL | c.2380-24T>C (n.2380-24T>C) c.2379+2691T>C (n.2379+2691T>C) c.2278-24T>C (n.2278-24T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50905580A>T | CA614275183 | PYGL | c.2380-24T>A (n.2380-24T>A) c.2379+2691T>A (n.2379+2691T>A) c.2278-24T>A (n.2278-24T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50905581G>A | CA2136411392 | PYGL | c.2380-25C>T (n.2380-25C>T) c.2379+2690C>T (n.2379+2690C>T) c.2278-25C>T (n.2278-25C>T) | dbSNP gnomAD v4 |
14 | g.50905581G= | CA2136411391 | PYGL | c.2380-25C= (n.2380-25C=) c.2379+2690C= (n.2379+2690C=) c.2278-25C= (n.2278-25C=) | |
14 | g.50905582C>G | CA2729830926 | PYGL | c.2380-26G>C (n.2380-26G>C) c.2379+2689G>C (n.2379+2689G>C) c.2278-26G>C (n.2278-26G>C) | dbSNP |
14 | g.50905582C>T | CA2624823745 | PYGL | c.2380-26G>A (n.2380-26G>A) c.2379+2689G>A (n.2379+2689G>A) c.2278-26G>A (n.2278-26G>A) | gnomAD v4 |