OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64751927_64751931del | CA2580084639 | PYGM | c.1761_1765del (p.Tyr588ProfsTer8) c.1497_1501del (p.Tyr500ProfsTer8) n.85_89del | ClinVar |
| 11 | g.64751928G>A | CA6079764 | PYGM | c.1764C>T (p.Tyr588=) c.1500C>T (p.Tyr500=) n.88C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751928G>C | CA381170298 | PYGM | c.1764C>G (p.Tyr588Ter) c.1500C>G (p.Tyr500Ter) n.88C>G | |
| 11 | g.64751928G= | CA1978917760 | PYGM | c.1764C= (p.Tyr588=) c.1500C= (p.Tyr500=) n.88C= | |
| 11 | g.64751928G>T | CA381170301 | PYGM | c.1764C>A (p.Tyr588Ter) c.1500C>A (p.Tyr500Ter) n.88C>A | |
| 11 | g.64751929T>A | CA381170305 | PYGM | c.1763A>T (p.Tyr588Phe) c.1499A>T (p.Tyr500Phe) n.87A>T | |
| 11 | g.64751929T>C | CA381170308 | PYGM | c.1763A>G (p.Tyr588Cys) c.1499A>G (p.Tyr500Cys) n.87A>G | dbSNP |
| 11 | g.64751929T>G | CA381170310 | PYGM | c.1763A>C (p.Tyr588Ser) c.1499A>C (p.Tyr500Ser) n.87A>C | |
| 11 | g.64751929T= | CA1978917767 | PYGM | c.1763A= (p.Tyr588=) c.1499A= (p.Tyr500=) n.87A= | |
| 11 | g.64751930A>C | CA381170316 | PYGM | c.1762T>G (p.Tyr588Asp) c.1498T>G (p.Tyr500Asp) n.86T>G | |
| 11 | g.64751930A>G | CA381170319 | PYGM | c.1762T>C (p.Tyr588His) c.1498T>C (p.Tyr500His) n.86T>C | |
| 11 | g.64751930A>T | CA381170322 | PYGM | c.1762T>A (p.Tyr588Asn) c.1498T>A (p.Tyr500Asn) n.86T>A | |
| 11 | g.64751931C>A | CA474958972 | PYGM | c.1761G>T (p.Leu587=) c.1497G>T (p.Leu499=) n.85G>T | |
| 11 | g.64751931C= | CA1978917770 | PYGM | c.1761G= (p.Leu587=) c.1497G= (p.Leu499=) n.85G= | |
| 11 | g.64751931C>G | CA474958973 | PYGM | c.1761G>C (p.Leu587=) c.1497G>C (p.Leu499=) n.85G>C | |
| 11 | g.64751931C>T | CA474958974 | PYGM | c.1761G>A (p.Leu587=) c.1497G>A (p.Leu499=) n.85G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751932A= | CA1978917777 | PYGM | c.1760T= (p.Leu587=) c.1496T= (p.Leu499=) n.84T= | |
| 11 | g.64751932A>C | CA381170327 | PYGM | c.1760T>G (p.Leu587Arg) c.1496T>G (p.Leu499Arg) n.84T>G | |
| 11 | g.64751932A>G | CA6079765 | PYGM | c.1760T>C (p.Leu587Pro) c.1496T>C (p.Leu499Pro) n.84T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751932A>T | CA381170331 | PYGM | c.1760T>A (p.Leu587Gln) c.1496T>A (p.Leu499Gln) n.84T>A | |
| 11 | g.64751933G>A | CA474958975 | PYGM | c.1759C>T (p.Leu587=) c.1495C>T (p.Leu499=) n.83C>T | |
| 11 | g.64751933G>C | CA381170339 | PYGM | c.1759C>G (p.Leu587Val) c.1495C>G (p.Leu499Val) n.83C>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64751933G= | CA1978917783 | PYGM | c.1759C= (p.Leu587=) c.1495C= (p.Leu499=) n.83C= | |
| 11 | g.64751933G>T | CA381170337 | PYGM | c.1759C>A (p.Leu587Met) c.1495C>A (p.Leu499Met) n.83C>A | |
| 11 | g.64751934G>A | CA474958976 | PYGM | c.1758C>T (p.Thr586=) c.1494C>T (p.Thr498=) n.82C>T | ClinVar dbSNP |
| 11 | g.64751934G>C | CA474958977 | PYGM | c.1758C>G (p.Thr586=) c.1494C>G (p.Thr498=) n.82C>G | dbSNP |
| 11 | g.64751934G>T | CA474958978 | PYGM | c.1758C>A (p.Thr586=) c.1494C>A (p.Thr498=) n.82C>A | |
| 11 | g.64751935G>A | CA381170343 | PYGM | c.1757C>T (p.Thr586Ile) c.1493C>T (p.Thr498Ile) n.81C>T | gnomAD v4 |
| 11 | g.64751935G>C | CA381170344 | PYGM | c.1757C>G (p.Thr586Ser) c.1493C>G (p.Thr498Ser) n.81C>G | dbSNP gnomAD v4 |
| 11 | g.64751935G= | CA1978917788 | PYGM | c.1757C= (p.Thr586=) c.1493C= (p.Thr498=) n.81C= | |
| 11 | g.64751935G>T | CA6079766 | PYGM | c.1757C>A (p.Thr586Asn) c.1493C>A (p.Thr498Asn) n.81C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751936T>A | CA381170348 | PYGM | c.1756A>T (p.Thr586Ser) c.1492A>T (p.Thr498Ser) n.80A>T | |
| 11 | g.64751936T>C | CA381170350 | PYGM | c.1756A>G (p.Thr586Ala) c.1492A>G (p.Thr498Ala) n.80A>G | |
| 11 | g.64751936T>G | CA381170352 | PYGM | c.1756A>C (p.Thr586Pro) c.1492A>C (p.Thr498Pro) n.80A>C | dbSNP gnomAD v4 |
| 11 | g.64751936T= | CA1978917791 | PYGM | c.1756A= (p.Thr586=) c.1492A= (p.Thr498=) n.80A= | |
| 11 | g.64751937G>A | CA474958979 | PYGM | c.1755C>T (p.Ile585=) c.1491C>T (p.Ile497=) n.79C>T | |
| 11 | g.64751937G>C | CA381170355 | PYGM | c.1755C>G (p.Ile585Met) c.1491C>G (p.Ile497Met) n.79C>G | |
| 11 | g.64751937G>T | CA474958980 | PYGM | c.1755C>A (p.Ile585=) c.1491C>A (p.Ile497=) n.79C>A | |
| 11 | g.64751938A>C | CA381170358 | PYGM | c.1754T>G (p.Ile585Ser) c.1490T>G (p.Ile497Ser) n.78T>G | |
| 11 | g.64751938A>G | CA381170360 | PYGM | c.1754T>C (p.Ile585Thr) c.1490T>C (p.Ile497Thr) n.78T>C | |
| 11 | g.64751938A>T | CA381170361 | PYGM | c.1754T>A (p.Ile585Asn) c.1490T>A (p.Ile497Asn) n.78T>A | |
| 11 | g.64751938_64751939insACACCGGG | CA2554317398 | PYGM | c.1753_1754insCCCGGTGT (p.Ile585ThrfsTer23) c.1489_1490insCCCGGTGT (p.Ile497ThrfsTer23) n.77_78insCCCGGTGT | |
| 11 | g.64751939T>A | CA381170362 | PYGM | c.1753A>T (p.Ile585Phe) c.1489A>T (p.Ile497Phe) n.77A>T | dbSNP gnomAD v4 |
| 11 | g.64751939T>C | CA381170364 | PYGM | c.1753A>G (p.Ile585Val) c.1489A>G (p.Ile497Val) n.77A>G | |
| 11 | g.64751939T>G | CA381170366 | PYGM | c.1753A>C (p.Ile585Leu) c.1489A>C (p.Ile497Leu) n.77A>C | |
| 11 | g.64751939T= | CA1978917793 | PYGM | c.1753A= (p.Ile585=) c.1489A= (p.Ile497=) n.77A= | |
| 11 | g.64751940G>A | CA474958981 | PYGM | c.1752C>T (p.Val584=) c.1488C>T (p.Val496=) n.76C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751940G>C | CA474958982 | PYGM | c.1752C>G (p.Val584=) c.1488C>G (p.Val496=) n.76C>G | |
| 11 | g.64751940G= | CA1978917797 | PYGM | c.1752C= (p.Val584=) c.1488C= (p.Val496=) n.76C= | |
| 11 | g.64751940G>T | CA474958983 | PYGM | c.1752C>A (p.Val584=) c.1488C>A (p.Val496=) n.76C>A | |
| 11 | g.64751940_64751941insC | CA2567815182 | PYGM | c.1751_1752insG (p.Ile585HisfsTer13) c.1487_1488insG (p.Ile497HisfsTer13) n.75_76insG | |
| 11 | g.64751941A>C | CA381170372 | PYGM | c.1751T>G (p.Val584Gly) c.1487T>G (p.Val496Gly) n.75T>G | |
| 11 | g.64751941A>G | CA381170371 | PYGM | c.1751T>C (p.Val584Ala) c.1487T>C (p.Val496Ala) n.75T>C | |
| 11 | g.64751941A>T | CA381170369 | PYGM | c.1751T>A (p.Val584Asp) c.1487T>A (p.Val496Asp) n.75T>A | gnomAD v4 |
| 11 | g.64751942C>A | CA381170375 | PYGM | c.1750G>T (p.Val584Phe) c.1486G>T (p.Val496Phe) n.74G>T | |
| 11 | g.64751942C= | CA1978917800 | PYGM | c.1750G= (p.Val584=) c.1486G= (p.Val496=) n.74G= | |
| 11 | g.64751942C>G | CA381170374 | PYGM | c.1750G>C (p.Val584Leu) c.1486G>C (p.Val496Leu) n.74G>C | |
| 11 | g.64751942C>T | CA6079767 | PYGM | c.1750G>A (p.Val584Ile) c.1486G>A (p.Val496Ile) n.74G>A | dbSNP ExAC |
| 11 | g.64751942_64751943insCGAGATAAGGTCC | CA2527939176 | PYGM | c.1750_1751insGACCTTATCTCGG (p.Val584GlyfsTer18) c.1486_1487insGACCTTATCTCGG (p.Val496GlyfsTer18) n.74_75insGACCTTATCTCGG | |
| 11 | g.64751943A= | CA1978917808 | PYGM | c.1749T= (p.His583=) c.1485T= (p.His495=) n.73T= | |
| 11 | g.64751943A>C | CA381170379 | PYGM | c.1749T>G (p.His583Gln) c.1485T>G (p.His495Gln) n.73T>G | dbSNP |
| 11 | g.64751943A>G | CA474958984 | PYGM | c.1749T>C (p.His583=) c.1485T>C (p.His495=) n.73T>C | |
| 11 | g.64751943A>T | CA381170381 | PYGM | c.1749T>A (p.His583Gln) c.1485T>A (p.His495Gln) n.73T>A | |
| 11 | g.64751944T>A | CA381170384 | PYGM | c.1748A>T (p.His583Leu) c.1484A>T (p.His495Leu) n.72A>T | |
| 11 | g.64751944T>C | CA6079768 | PYGM | c.1748A>G (p.His583Arg) c.1484A>G (p.His495Arg) n.72A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751944T>G | CA381170386 | PYGM | c.1748A>C (p.His583Pro) c.1484A>C (p.His495Pro) n.72A>C | |
| 11 | g.64751944T= | CA1978917815 | PYGM | c.1748A= (p.His583=) c.1484A= (p.His495=) n.72A= | |
| 11 | g.64751945G>A | CA381170388 | PYGM | c.1747C>T (p.His583Tyr) c.1483C>T (p.His495Tyr) n.71C>T | dbSNP |
| 11 | g.64751945G>C | CA381170389 | PYGM | c.1747C>G (p.His583Asp) c.1483C>G (p.His495Asp) n.71C>G | |
| 11 | g.64751945G= | CA1978917821 | PYGM | c.1747C= (p.His583=) c.1483C= (p.His495=) n.71C= | |
| 11 | g.64751945G>T | CA381170390 | PYGM | c.1747C>A (p.His583Asn) c.1483C>A (p.His495Asn) n.71C>A | |
| 11 | g.64751945_64751946insTTCGCCTCGTAGTAGGCGTCCAGCGTACCAACGTCGCGCCAGTAATCGCGGTCGCGGTCGGTC | CA2551404735 | PYGM | c.1746_1747insGACCGACCGCGACCGCGATTACTGGCGCGACGTTGGTACGCTGGACGCCTACTACGAGGCGAA (p.Leu582_His583insAspArgProArgProArgLeuLeuAlaArgArgTrpTyrAlaGlyArgLeuLeuArgGlyGlu) c.1482_1483insGACCGACCGCGACCGCGATTACTGGCGCGACGTTGGTACGCTGGACGCCTACTACGAGGCGAA (p.Leu494_His495insAspArgProArgProArgLeuLeuAlaArgArgTrpTyrAlaGlyArgLeuLeuArgGlyGlu) n.70_71insGACCGACCGCGACCGCGATTACTGGCGCGACGTTGGTACGCTGGACGCCTACTACGAGGCGAA | |
| 11 | g.64751946G>A | CA474958985 | PYGM | c.1746C>T (p.Leu582=) c.1482C>T (p.Leu494=) n.70C>T | |
| 11 | g.64751946G>C | CA474958986 | PYGM | c.1746C>G (p.Leu582=) c.1482C>G (p.Leu494=) n.70C>G | |
| 11 | g.64751946G>T | CA474958987 | PYGM | c.1746C>A (p.Leu582=) c.1482C>A (p.Leu494=) n.70C>A | |
| 11 | g.64751947A>C | CA381170392 | PYGM | c.1745T>G (p.Leu582Arg) c.1481T>G (p.Leu494Arg) n.69T>G | |
| 11 | g.64751947A>G | CA381170394 | PYGM | c.1745T>C (p.Leu582Pro) c.1481T>C (p.Leu494Pro) n.69T>C | |
| 11 | g.64751947A>T | CA381170396 | PYGM | c.1745T>A (p.Leu582His) c.1481T>A (p.Leu494His) n.69T>A | |
| 11 | g.64751947_64751948insACCC | CA2530825197 | PYGM | c.1744_1745insGGGT (p.Leu582ArgfsTer17) c.1480_1481insGGGT (p.Leu494ArgfsTer17) n.68_69insGGGT | |
| 11 | g.64751948G>A | CA6079769 | PYGM | c.1744C>T (p.Leu582Phe) c.1480C>T (p.Leu494Phe) n.68C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751948G>C | CA381170400 | PYGM | c.1744C>G (p.Leu582Val) c.1480C>G (p.Leu494Val) n.68C>G | |
| 11 | g.64751948G= | CA1978917825 | PYGM | c.1744C= (p.Leu582=) c.1480C= (p.Leu494=) n.68C= | |
| 11 | g.64751948G>T | CA381170403 | PYGM | c.1744C>A (p.Leu582Ile) c.1480C>A (p.Leu494Ile) n.68C>A | |
| 11 | g.64751949G>A | CA474958988 | PYGM | c.1743C>T (p.Cys581=) c.1479C>T (p.Cys493=) n.67C>T | |
| 11 | g.64751949G>C | CA381170406 | PYGM | c.1743C>G (p.Cys581Trp) c.1479C>G (p.Cys493Trp) n.67C>G | |
| 11 | g.64751949G>T | CA381170408 | PYGM | c.1743C>A (p.Cys581Ter) c.1479C>A (p.Cys493Ter) n.67C>A | |
| 11 | g.64751949_64751950delinsGC | CA1978917828 | PYGM | c.1742_1743delinsGC (p.Cys581=) c.1478_1479delinsGC (p.Cys493=) n.66_67delinsGC | |
| 11 | g.64751950del | CA915948170 | PYGM | c.1742del (p.Cys581SerfsTer24) c.1478del (p.Cys493SerfsTer24) n.66del | ClinVar dbSNP |
| 11 | g.64751950C>A | CA381170409 | PYGM | c.1742G>T (p.Cys581Phe) c.1478G>T (p.Cys493Phe) n.66G>T | |
| 11 | g.64751950C>G | CA381170410 | PYGM | c.1742G>C (p.Cys581Ser) c.1478G>C (p.Cys493Ser) n.66G>C | |
| 11 | g.64751950C>T | CA381170411 | PYGM | c.1742G>A (p.Cys581Tyr) c.1478G>A (p.Cys493Tyr) n.66G>A | |
| 11 | g.64751951A>C | CA381170412 | PYGM | c.1741T>G (p.Cys581Gly) c.1477T>G (p.Cys493Gly) n.65T>G | |
| 11 | g.64751951A>G | CA381170413 | PYGM | c.1741T>C (p.Cys581Arg) c.1477T>C (p.Cys493Arg) n.65T>C | |
| 11 | g.64751951A>T | CA381170414 | PYGM | c.1741T>A (p.Cys581Ser) c.1477T>A (p.Cys493Ser) n.65T>A | |
| 11 | g.64751952G>A | CA474958989 | PYGM | c.1740C>T (p.Asn580=) c.1476C>T (p.Asn492=) n.64C>T | |
| 11 | g.64751952G>C | CA381170415 | PYGM | c.1740C>G (p.Asn580Lys) c.1476C>G (p.Asn492Lys) n.64C>G | |
| 11 | g.64751952G>T | CA381170417 | PYGM | c.1740C>A (p.Asn580Lys) c.1476C>A (p.Asn492Lys) n.64C>A | |
| 11 | g.64751953T>A | CA381170420 | PYGM | c.1739A>T (p.Asn580Ile) c.1475A>T (p.Asn492Ile) n.63A>T | |
| 11 | g.64751953T>C | CA381170421 | PYGM | c.1739A>G (p.Asn580Ser) c.1475A>G (p.Asn492Ser) n.63A>G | dbSNP |
| 11 | g.64751953T>G | CA381170424 | PYGM | c.1739A>C (p.Asn580Thr) c.1475A>C (p.Asn492Thr) n.63A>C | |
| 11 | g.64751953T= | CA1978917839 | PYGM | c.1739A= (p.Asn580=) c.1475A= (p.Asn492=) n.63A= | |
| 11 | g.64751954T>A | CA381170436 | PYGM | c.1738A>T (p.Asn580Tyr) c.1474A>T (p.Asn492Tyr) n.62A>T | |
| 11 | g.64751954T>C | CA381170432 | PYGM | c.1738A>G (p.Asn580Asp) c.1474A>G (p.Asn492Asp) n.62A>G | |
| 11 | g.64751954T>G | CA381170429 | PYGM | c.1738A>C (p.Asn580His) c.1474A>C (p.Asn492His) n.62A>C | |
| 11 | g.64751954_64751957delinsTGAG | CA1978917843 | PYGM | c.1735_1738delinsCTCA (p.Leu579=) c.1471_1474delinsCTCA (p.Leu491=) n.59_62delinsCTCA | |
| 11 | g.64751955G>A | CA474958990 | PYGM | c.1737C>T (p.Leu579=) c.1473C>T (p.Leu491=) n.61C>T | ClinVar |
| 11 | g.64751955G>C | CA474958992 | PYGM | c.1737C>G (p.Leu579=) c.1473C>G (p.Leu491=) n.61C>G | |
| 11 | g.64751955G>T | CA474958991 | PYGM | c.1737C>A (p.Leu579=) c.1473C>A (p.Leu491=) n.61C>A | gnomAD v4 |
| 11 | g.64751958_64751960del | CA915948171 | PYGM | c.1735_1737del (p.Leu579del) c.1471_1473del (p.Leu491del) n.59_61del | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751956A>C | CA381170440 | PYGM | c.1736T>G (p.Leu579Arg) c.1472T>G (p.Leu491Arg) n.60T>G | |
| 11 | g.64751956A>G | CA381170443 | PYGM | c.1736T>C (p.Leu579Pro) c.1472T>C (p.Leu491Pro) n.60T>C | |
| 11 | g.64751956A>T | CA381170447 | PYGM | c.1736T>A (p.Leu579His) c.1472T>A (p.Leu491His) n.60T>A | |
| 11 | g.64751957G>A | CA381170450 | PYGM | c.1735C>T (p.Leu579Phe) c.1471C>T (p.Leu491Phe) n.59C>T | |
| 11 | g.64751957G>C | CA381170452 | PYGM | c.1735C>G (p.Leu579Val) c.1471C>G (p.Leu491Val) n.59C>G | |
| 11 | g.64751957G>T | CA381170455 | PYGM | c.1735C>A (p.Leu579Ile) c.1471C>A (p.Leu491Ile) n.59C>A | |
| 11 | g.64751958G>A | CA474958993 | PYGM | c.1734C>T (p.Leu578=) c.1470C>T (p.Leu490=) n.58C>T | ClinVar COSMIC |
| 11 | g.64751958G>C | CA474958994 | PYGM | c.1734C>G (p.Leu578=) c.1470C>G (p.Leu490=) n.58C>G | |
| 11 | g.64751958G>T | CA474958995 | PYGM | c.1734C>A (p.Leu578=) c.1470C>A (p.Leu490=) n.58C>A | |
| 11 | g.64751959A>C | CA381170464 | PYGM | c.1733T>G (p.Leu578Arg) c.1469T>G (p.Leu490Arg) n.57T>G | |
| 11 | g.64751959A>G | CA381170460 | PYGM | c.1733T>C (p.Leu578Pro) c.1469T>C (p.Leu490Pro) n.57T>C | |
| 11 | g.64751959A>T | CA381170463 | PYGM | c.1733T>A (p.Leu578His) c.1469T>A (p.Leu490His) n.57T>A | |
| 11 | g.64751960G>A | CA6079770 | PYGM | c.1732C>T (p.Leu578Phe) c.1468C>T (p.Leu490Phe) n.56C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751960G>C | CA381170470 | PYGM | c.1732C>G (p.Leu578Val) c.1468C>G (p.Leu490Val) n.56C>G | |
| 11 | g.64751960G= | CA1978917848 | PYGM | c.1732C= (p.Leu578=) c.1468C= (p.Leu490=) n.56C= | |
| 11 | g.64751960G>T | CA381170472 | PYGM | c.1732C>A (p.Leu578Ile) c.1468C>A (p.Leu490Ile) n.56C>A | |
| 11 | g.64751961C>A | CA381170477 | PYGM | c.1731G>T (p.Gln577His) c.1467G>T (p.Gln489His) n.55G>T | |
| 11 | g.64751961C= | CA1978917850 | PYGM | c.1731G= (p.Gln577=) c.1467G= (p.Gln489=) n.55G= | |
| 11 | g.64751961C>G | CA381170479 | PYGM | c.1731G>C (p.Gln577His) c.1467G>C (p.Gln489His) n.55G>C | |
| 11 | g.64751961C>T | CA474958996 | PYGM | c.1731G>A (p.Gln577=) c.1467G>A (p.Gln489=) n.55G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751962T>A | CA381170486 | PYGM | c.1730A>T (p.Gln577Leu) c.1466A>T (p.Gln489Leu) n.54A>T | |
| 11 | g.64751962T>C | CA381170492 | PYGM | c.1730A>G (p.Gln577Arg) c.1466A>G (p.Gln489Arg) n.54A>G | gnomAD v4 |
| 11 | g.64751962T>G | CA381170489 | PYGM | c.1730A>C (p.Gln577Pro) c.1466A>C (p.Gln489Pro) n.54A>C | |
| 11 | g.64751963G>A | CA381170495 | PYGM | c.1729C>T (p.Gln577Ter) c.1465C>T (p.Gln489Ter) n.53C>T | gnomAD v4 |
| 11 | g.64751963G>C | CA381170497 | PYGM | c.1729C>G (p.Gln577Glu) c.1465C>G (p.Gln489Glu) n.53C>G | |
| 11 | g.64751963G>T | CA381170500 | PYGM | c.1729C>A (p.Gln577Lys) c.1465C>A (p.Gln489Lys) n.53C>A | |
| 11 | g.64751964T>A | CA474958997 | PYGM | c.1728A>T (p.Arg576=) c.1464A>T (p.Arg488=) n.52A>T | |
| 11 | g.64751964T>C | CA474958998 | PYGM | c.1728A>G (p.Arg576=) c.1464A>G (p.Arg488=) n.52A>G | |
| 11 | g.64751964T>G | CA474958999 | PYGM | c.1728A>C (p.Arg576=) c.1464A>C (p.Arg488=) n.52A>C | dbSNP |
| 11 | g.64751965C>A | CA381170504 | PYGM | c.1727G>T (p.Arg576Leu) c.1463G>T (p.Arg488Leu) n.51G>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751965C= | CA1978917854 | PYGM | c.1727G= (p.Arg576=) c.1463G= (p.Arg488=) n.51G= | |
| 11 | g.64751965C>G | CA381170507 | PYGM | c.1727G>C (p.Arg576Pro) c.1463G>C (p.Arg488Pro) n.51G>C | |
| 11 | g.64751965C>T | CA6079771 | PYGM | c.1727G>A (p.Arg576Gln) c.1463G>A (p.Arg488Gln) n.51G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64751966G>A | CA252206 | PYGM | c.1726C>T (p.Arg576Ter) c.1462C>T (p.Arg488Ter) n.50C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64751966G>C | CA381170516 | PYGM | c.1726C>G (p.Arg576Gly) c.1462C>G (p.Arg488Gly) n.50C>G | |
| 11 | g.64751966G= | CA1978917867 | PYGM | c.1726C= (p.Arg576=) c.1462C= (p.Arg488=) n.50C= | |
| 11 | g.64751966G>T | CA474959000 | PYGM | c.1726C>A (p.Arg576=) c.1462C>A (p.Arg488=) n.50C>A | ClinVar |
| 11 | g.64751966_64751967delinsGT | CA1978917863 | PYGM | c.1725_1726delinsAC (p.Lys575=) c.1461_1462delinsAC (p.Lys487=) n.49_50delinsAC | |
| 11 | g.64751967T>A | CA381170519 | PYGM | c.1725A>T (p.Lys575Asn) c.1461A>T (p.Lys487Asn) n.49A>T | |
| 11 | g.64751967T>C | CA474959001 | PYGM | c.1725A>G (p.Lys575=) c.1461A>G (p.Lys487=) n.49A>G | |
| 11 | g.64751967T>G | CA381170521 | PYGM | c.1725A>C (p.Lys575Asn) c.1461A>C (p.Lys487Asn) n.49A>C | |
| 11 | g.64751969del | CA252208 | PYGM | c.1725del (p.Lys575AsnfsTer30) c.1461del (p.Lys487AsnfsTer30) n.49del | ClinVar dbSNP |
| 11 | g.64751968T>A | CA381170530 | PYGM | c.1724A>T (p.Lys575Ile) c.1460A>T (p.Lys487Ile) n.48A>T | |
| 11 | g.64751968T>C | CA381170532 | PYGM | c.1724A>G (p.Lys575Arg) c.1460A>G (p.Lys487Arg) n.48A>G | |
| 11 | g.64751968T>G | CA381170527 | PYGM | c.1724A>C (p.Lys575Thr) c.1460A>C (p.Lys487Thr) n.48A>C | gnomAD v4 |
| 11 | g.64751969T>A | CA381170539 | PYGM | c.1723A>T (p.Lys575Ter) c.1459A>T (p.Lys487Ter) n.47A>T | |
| 11 | g.64751969T>C | CA381170544 | PYGM | c.1723A>G (p.Lys575Glu) c.1459A>G (p.Lys487Glu) n.47A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751969T>G | CA381170541 | PYGM | c.1723A>C (p.Lys575Gln) c.1459A>C (p.Lys487Gln) n.47A>C | |
| 11 | g.64751969T= | CA1978917882 | PYGM | c.1723A= (p.Lys575=) c.1459A= (p.Lys487=) n.47A= | |
| 11 | g.64751970A= | CA1978917899 | PYGM | c.1722T= (p.Tyr574=) c.1458T= (p.Tyr486=) n.46T= | |
| 11 | g.64751970A>C | CA252213 | PYGM | c.1722T>G (p.Tyr574Ter) c.1458T>G (p.Tyr486Ter) n.46T>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751970A>G | CA223899025 | PYGM | c.1722T>C (p.Tyr574=) c.1458T>C (p.Tyr486=) n.46T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751970A>T | CA381170552 | PYGM | c.1722T>A (p.Tyr574Ter) c.1458T>A (p.Tyr486Ter) n.46T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751971T>A | CA381170557 | PYGM | c.1721A>T (p.Tyr574Phe) c.1457A>T (p.Tyr486Phe) n.45A>T | |
| 11 | g.64751971T>C | CA381170558 | PYGM | c.1721A>G (p.Tyr574Cys) c.1457A>G (p.Tyr486Cys) n.45A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64751971T>G | CA381170562 | PYGM | c.1721A>C (p.Tyr574Ser) c.1457A>C (p.Tyr486Ser) n.45A>C | |
| 11 | g.64751971T= | CA1978917901 | PYGM | c.1721A= (p.Tyr574=) c.1457A= (p.Tyr486=) n.45A= | |
| 11 | g.64751972A>C | CA381170574 | PYGM | c.1720T>G (p.Tyr574Asp) c.1456T>G (p.Tyr486Asp) n.44T>G | |
| 11 | g.64751972A>G | CA381170577 | PYGM | c.1720T>C (p.Tyr574His) c.1456T>C (p.Tyr486His) n.44T>C | |
| 11 | g.64751972A>T | CA381170591 | PYGM | c.1720T>A (p.Tyr574Asn) c.1456T>A (p.Tyr486Asn) n.44T>A | |
| 11 | g.64751973T>A | CA381170596 | PYGM | c.1719A>T (p.Glu573Asp) c.1455A>T (p.Glu485Asp) n.43A>T | |
| 11 | g.64751973T>C | CA474959002 | PYGM | c.1719A>G (p.Glu573=) c.1455A>G (p.Glu485=) n.43A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751973T>G | CA381170598 | PYGM | c.1719A>C (p.Glu573Asp) c.1455A>C (p.Glu485Asp) n.43A>C | |
| 11 | g.64751974T>A | CA381170604 | PYGM | c.1718A>T (p.Glu573Val) c.1454A>T (p.Glu485Val) n.42A>T | |
| 11 | g.64751974T>C | CA381170607 | PYGM | c.1718A>G (p.Glu573Gly) c.1454A>G (p.Glu485Gly) n.42A>G | |
| 11 | g.64751974T>G | CA381170610 | PYGM | c.1718A>C (p.Glu573Ala) c.1454A>C (p.Glu485Ala) n.42A>C | |
| 11 | g.64751975C>A | CA6079772 | PYGM | c.1717G>T (p.Glu573Ter) c.1453G>T (p.Glu485Ter) n.41G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751975C= | CA1978917909 | PYGM | c.1717G= (p.Glu573=) c.1453G= (p.Glu485=) n.41G= | |
| 11 | g.64751975C>G | CA381170613 | PYGM | c.1717G>C (p.Glu573Gln) c.1453G>C (p.Glu485Gln) n.41G>C | |
| 11 | g.64751975C>T | CA381170622 | PYGM | c.1717G>A (p.Glu573Lys) c.1453G>A (p.Glu485Lys) n.41G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64751976G>A | CA6079773 | PYGM | c.1716C>T (p.His572=) c.1452C>T (p.His484=) n.40C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751976G>C | CA381170631 | PYGM | c.1716C>G (p.His572Gln) c.1452C>G (p.His484Gln) n.40C>G | |
| 11 | g.64751976G= | CA1978917922 | PYGM | c.1716C= (p.His572=) c.1452C= (p.His484=) n.40C= | |
| 11 | g.64751976G>T | CA381170633 | PYGM | c.1716C>A (p.His572Gln) c.1452C>A (p.His484Gln) n.40C>A | |
| 11 | g.64751977T>A | CA381170637 | PYGM | c.1715A>T (p.His572Leu) c.1451A>T (p.His484Leu) n.39A>T | |
| 11 | g.64751977T>C | CA381170639 | PYGM | c.1715A>G (p.His572Arg) c.1451A>G (p.His484Arg) n.39A>G | |
| 11 | g.64751977T>G | CA381170651 | PYGM | c.1715A>C (p.His572Pro) c.1451A>C (p.His484Pro) n.39A>C | |
| 11 | g.64751978G>A | CA381170654 | PYGM | c.1714C>T (p.His572Tyr) c.1450C>T (p.His484Tyr) n.38C>T | |
| 11 | g.64751978G>C | CA381170657 | PYGM | c.1714C>G (p.His572Asp) c.1450C>G (p.His484Asp) n.38C>G | |
| 11 | g.64751978G>T | CA381170660 | PYGM | c.1714C>A (p.His572Asn) c.1450C>A (p.His484Asn) n.38C>A | |
| 11 | g.64751979A>C | CA381170664 | PYGM | c.1713T>G (p.Ile571Met) c.1449T>G (p.Ile483Met) n.37T>G | |
| 11 | g.64751979A>G | CA474959003 | PYGM | c.1713T>C (p.Ile571=) c.1449T>C (p.Ile483=) n.37T>C | dbSNP |
| 11 | g.64751979A>T | CA474959004 | PYGM | c.1713T>A (p.Ile571=) c.1449T>A (p.Ile483=) n.37T>A | |
| 11 | g.64751980A= | CA1978917927 | PYGM | c.1712T= (p.Ile571=) c.1448T= (p.Ile483=) n.36T= | |
| 11 | g.64751980A>C | CA381170666 | PYGM | c.1712T>G (p.Ile571Ser) c.1448T>G (p.Ile483Ser) n.36T>G | dbSNP gnomAD v4 |
| 11 | g.64751980A>G | CA381170675 | PYGM | c.1712T>C (p.Ile571Thr) c.1448T>C (p.Ile483Thr) n.36T>C | |
| 11 | g.64751980A>T | CA381170665 | PYGM | c.1712T>A (p.Ile571Asn) c.1448T>A (p.Ile483Asn) n.36T>A | |
| 11 | g.64751981T>A | CA381170680 | PYGM | c.1711A>T (p.Ile571Phe) c.1447A>T (p.Ile483Phe) n.35A>T | |
| 11 | g.64751981T>C | CA381170683 | PYGM | c.1711A>G (p.Ile571Val) c.1447A>G (p.Ile483Val) n.35A>G | dbSNP |
| 11 | g.64751981T>G | CA381170686 | PYGM | c.1711A>C (p.Ile571Leu) c.1447A>C (p.Ile483Leu) n.35A>C | |
| 11 | g.64751981T= | CA1978917934 | PYGM | c.1711A= (p.Ile571=) c.1447A= (p.Ile483=) n.35A= | |
| 11 | g.64751982C>A | CA474959005 | PYGM | c.1710G>T (p.Arg570=) c.1446G>T (p.Arg482=) n.34G>T | gnomAD v4 |
| 11 | g.64751982C= | CA1978917941 | PYGM | c.1710G= (p.Arg570=) c.1446G= (p.Arg482=) n.34G= | |
| 11 | g.64751982C>G | CA474959006 | PYGM | c.1710G>C (p.Arg570=) c.1446G>C (p.Arg482=) n.34G>C | |
| 11 | g.64751982C>T | CA474959007 | PYGM | c.1710G>A (p.Arg570=) c.1446G>A (p.Arg482=) n.34G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751983C>A | CA381170690 | PYGM | c.1709G>T (p.Arg570Leu) c.1445G>T (p.Arg482Leu) n.33G>T | |
| 11 | g.64751983C= | CA1978917946 | PYGM | c.1709G= (p.Arg570=) c.1445G= (p.Arg482=) n.33G= | |
| 11 | g.64751983C>G | CA381170693 | PYGM | c.1709G>C (p.Arg570Pro) c.1445G>C (p.Arg482Pro) n.33G>C | |
| 11 | g.64751983C>T | CA6079774 | PYGM | c.1709G>A (p.Arg570Gln) c.1445G>A (p.Arg482Gln) n.33G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751984G>A | CA6079775 | PYGM | c.1708C>T (p.Arg570Trp) c.1444C>T (p.Arg482Trp) n.32C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64751984G>C | CA381170702 | PYGM | c.1708C>G (p.Arg570Gly) c.1444C>G (p.Arg482Gly) n.32C>G | |
| 11 | g.64751984G= | CA1978917956 | PYGM | c.1708C= (p.Arg570=) c.1444C= (p.Arg482=) n.32C= | |
| 11 | g.64751984G>T | CA474959008 | PYGM | c.1708C>A (p.Arg570=) c.1444C>A (p.Arg482=) n.32C>A | |
| 11 | g.64751985C>A | CA381170706 | PYGM | c.1707G>T (p.Lys569Asn) c.1443G>T (p.Lys481Asn) n.31G>T | |
| 11 | g.64751985C= | CA1978917963 | PYGM | c.1707G= (p.Lys569=) c.1443G= (p.Lys481=) n.31G= | |
| 11 | g.64751985C>G | CA381170709 | PYGM | c.1707G>C (p.Lys569Asn) c.1443G>C (p.Lys481Asn) n.31G>C | |
| 11 | g.64751985C>T | CA474959009 | PYGM | c.1707G>A (p.Lys569=) c.1443G>A (p.Lys481=) n.31G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751986T>A | CA381170713 | PYGM | c.1706A>T (p.Lys569Met) c.1442A>T (p.Lys481Met) n.30A>T | |
| 11 | g.64751986T>C | CA381170715 | PYGM | c.1706A>G (p.Lys569Arg) c.1442A>G (p.Lys481Arg) n.30A>G | |
| 11 | g.64751986T>G | CA381170718 | PYGM | c.1706A>C (p.Lys569Thr) c.1442A>C (p.Lys481Thr) n.30A>C | |
| 11 | g.64751987T>A | CA381170719 | PYGM | c.1705A>T (p.Lys569Ter) c.1441A>T (p.Lys481Ter) n.29A>T | |
| 11 | g.64751987T>C | CA381170722 | PYGM | c.1705A>G (p.Lys569Glu) c.1441A>G (p.Lys481Glu) n.29A>G | |
| 11 | g.64751987T>G | CA381170720 | PYGM | c.1705A>C (p.Lys569Gln) c.1441A>C (p.Lys481Gln) n.29A>C | |
| 11 | g.64751988C>A | CA474959010 | PYGM | c.1704G>T (p.Val568=) c.1440G>T (p.Val480=) n.28G>T | |
| 11 | g.64751988C= | CA1978917971 | PYGM | c.1704G= (p.Val568=) c.1440G= (p.Val480=) n.28G= | |
| 11 | g.64751988C>G | CA474959011 | PYGM | c.1704G>C (p.Val568=) c.1440G>C (p.Val480=) n.28G>C | |
| 11 | g.64751988C>T | CA474959012 | PYGM | c.1704G>A (p.Val568=) c.1440G>A (p.Val480=) n.28G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64751989A= | CA1978917976 | PYGM | c.1703T= (p.Val568=) c.1439T= (p.Val480=) n.27T= | |
| 11 | g.64751989A>C | CA381170725 | PYGM | c.1703T>G (p.Val568Gly) c.1439T>G (p.Val480Gly) n.27T>G | |
| 11 | g.64751989A>G | CA381170728 | PYGM | c.1703T>C (p.Val568Ala) c.1439T>C (p.Val480Ala) n.27T>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751989A>T | CA381170731 | PYGM | c.1703T>A (p.Val568Glu) c.1439T>A (p.Val480Glu) n.27T>A | |
| 11 | g.64751990C>A | CA381170735 | PYGM | c.1702G>T (p.Val568Leu) c.1438G>T (p.Val480Leu) n.26G>T | |
| 11 | g.64751990C= | CA1978917980 | PYGM | c.1702G= (p.Val568=) c.1438G= (p.Val480=) n.26G= | |
| 11 | g.64751990C>G | CA381170737 | PYGM | c.1702G>C (p.Val568Leu) c.1438G>C (p.Val480Leu) n.26G>C | |
| 11 | g.64751990C>T | CA6079776 | PYGM | c.1702G>A (p.Val568Met) c.1438G>A (p.Val480Met) n.26G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64751991C>A | CA381170744 | PYGM | c.1701G>T (p.Gln567His) c.1437G>T (p.Gln479His) n.25G>T | |
| 11 | g.64751991C>G | CA381170747 | PYGM | c.1701G>C (p.Gln567His) c.1437G>C (p.Gln479His) n.25G>C | |
| 11 | g.64751991C>T | CA474959013 | PYGM | c.1701G>A (p.Gln567=) c.1437G>A (p.Gln479=) n.25G>A | |
| 11 | g.64751992T>A | CA381170750 | PYGM | c.1700A>T (p.Gln567Leu) c.1436A>T (p.Gln479Leu) n.24A>T | |
| 11 | g.64751992T>C | CA223899044 | PYGM | c.1700A>G (p.Gln567Arg) c.1436A>G (p.Gln479Arg) n.24A>G | dbSNP |
| 11 | g.64751992T>G | CA381170751 | PYGM | c.1700A>C (p.Gln567Pro) c.1436A>C (p.Gln479Pro) n.24A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64751992T= | CA1978917996 | PYGM | c.1700A= (p.Gln567=) c.1436A= (p.Gln479=) n.24A= | |
| 11 | g.64751993G>A | CA381170755 | PYGM | c.1699C>T (p.Gln567Ter) c.1435C>T (p.Gln479Ter) n.23C>T | |
| 11 | g.64751993G>C | CA381170753 | PYGM | c.1699C>G (p.Gln567Glu) c.1435C>G (p.Gln479Glu) n.23C>G | |
| 11 | g.64751993G>T | CA381170752 | PYGM | c.1699C>A (p.Gln567Lys) c.1435C>A (p.Gln479Lys) n.23C>A | |
| 11 | g.64751994G>A | CA474959014 | PYGM | c.1698C>T (p.Ile566=) c.1434C>T (p.Ile478=) n.22C>T | |
| 11 | g.64751994G>C | CA381170758 | PYGM | c.1698C>G (p.Ile566Met) c.1434C>G (p.Ile478Met) n.22C>G | |
| 11 | g.64751994G>T | CA474959015 | PYGM | c.1698C>A (p.Ile566=) c.1434C>A (p.Ile478=) n.22C>A | |
| 11 | g.64751995_64751997del | CA2574864936 | PYGM | c.1696_1698del (p.Ile566del) c.1432_1434del (p.Ile478del) n.20_22del | |
| 11 | g.64751995A= | CA1978918014 | PYGM | c.1697T= (p.Ile566=) c.1433T= (p.Ile478=) n.21T= | |
| 11 | g.64751995A>C | CA381170769 | PYGM | c.1697T>G (p.Ile566Ser) c.1433T>G (p.Ile478Ser) n.21T>G | ClinVar dbSNP |
| 11 | g.64751995A>G | CA381170763 | PYGM | c.1697T>C (p.Ile566Thr) c.1433T>C (p.Ile478Thr) n.21T>C | |
| 11 | g.64751995A>T | CA381170766 | PYGM | c.1697T>A (p.Ile566Asn) c.1433T>A (p.Ile478Asn) n.21T>A | |
| 11 | g.64751996T>A | CA381170773 | PYGM | c.1696A>T (p.Ile566Phe) c.1432A>T (p.Ile478Phe) n.20A>T | |
| 11 | g.64751996T>C | CA381170777 | PYGM | c.1696A>G (p.Ile566Val) c.1432A>G (p.Ile478Val) n.20A>G | dbSNP |
| 11 | g.64751996T>G | CA381170780 | PYGM | c.1696A>C (p.Ile566Leu) c.1432A>C (p.Ile478Leu) n.20A>C | |
| 11 | g.64751996T= | CA1978918018 | PYGM | c.1696A= (p.Ile566=) c.1432A= (p.Ile478=) n.20A= | |
| 11 | g.64751997G>A | CA474959016 | PYGM | c.1695C>T (p.Asp565=) c.1431C>T (p.Asp477=) n.19C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64751997G>C | CA381170784 | PYGM | c.1695C>G (p.Asp565Glu) c.1431C>G (p.Asp477Glu) n.19C>G | |
| 11 | g.64751997G= | CA1978918019 | PYGM | c.1695C= (p.Asp565=) c.1431C= (p.Asp477=) n.19C= | |
| 11 | g.64751997G>T | CA381170786 | PYGM | c.1695C>A (p.Asp565Glu) c.1431C>A (p.Asp477Glu) n.19C>A | |
| 11 | g.64751998T>A | CA381170788 | PYGM | c.1694A>T (p.Asp565Val) c.1430A>T (p.Asp477Val) n.18A>T | |
| 11 | g.64751998T>C | CA381170790 | PYGM | c.1694A>G (p.Asp565Gly) c.1430A>G (p.Asp477Gly) n.18A>G | |
| 11 | g.64751998T>G | CA381170792 | PYGM | c.1694A>C (p.Asp565Ala) c.1430A>C (p.Asp477Ala) n.18A>C | |
| 11 | g.64751999C>A | CA381170794 | PYGM | c.1693G>T (p.Asp565Tyr) c.1429G>T (p.Asp477Tyr) n.17G>T | |
| 11 | g.64751999C= | CA1978918025 | PYGM | c.1693G= (p.Asp565=) c.1429G= (p.Asp477=) n.17G= | |
| 11 | g.64751999C>G | CA381170796 | PYGM | c.1693G>C (p.Asp565His) c.1429G>C (p.Asp477His) n.17G>C | |
| 11 | g.64751999C>T | CA6079777 | PYGM | c.1693G>A (p.Asp565Asn) c.1429G>A (p.Asp477Asn) n.17G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.64751999_64752002delinsCGAA | CA1978918026 | PYGM | c.1690_1693delinsTTCG (p.Phe564=) c.1426_1429delinsTTCG (p.Phe476=) n.14_17delinsTTCG | |
| 11 | g.64752000G>A | CA6079779 | PYGM | c.1692C>T (p.Phe564=) c.1428C>T (p.Phe476=) n.16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64752000G>C | CA223899051 | PYGM | c.1692C>G (p.Phe564Leu) c.1428C>G (p.Phe476Leu) n.16C>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64752000G= | CA1978918035 | PYGM | c.1692C= (p.Phe564=) c.1428C= (p.Phe476=) n.16C= | |
| 11 | g.64752000G>T | CA381170803 | PYGM | c.1692C>A (p.Phe564Leu) c.1428C>A (p.Phe476Leu) n.16C>A | |
| 11 | g.64752002_64752004del | CA6079778 | PYGM | c.1690_1692del (p.Phe564del) c.1426_1428del (p.Phe476del) n.14_16del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64752001A>C | CA381170810 | PYGM | c.1691T>G (p.Phe564Cys) c.1427T>G (p.Phe476Cys) n.15T>G | |
| 11 | g.64752001A>G | CA381170812 | PYGM | c.1691T>C (p.Phe564Ser) c.1427T>C (p.Phe476Ser) n.15T>C | |
| 11 | g.64752001A>T | CA381170814 | PYGM | c.1691T>A (p.Phe564Tyr) c.1427T>A (p.Phe476Tyr) n.15T>A | |
| 11 | g.64752002A= | CA1978918044 | PYGM | c.1690T= (p.Phe564=) c.1426T= (p.Phe476=) n.14T= | |
| 11 | g.64752002A>C | CA381170819 | PYGM | c.1690T>G (p.Phe564Val) c.1426T>G (p.Phe476Val) n.14T>G | gnomAD v4 |
| 11 | g.64752002A>G | CA381170822 | PYGM | c.1690T>C (p.Phe564Leu) c.1426T>C (p.Phe476Leu) n.14T>C | dbSNP |
| 11 | g.64752002A>T | CA381170824 | PYGM | c.1690T>A (p.Phe564Ile) c.1426T>A (p.Phe476Ile) n.14T>A | |
| 11 | g.64752003G>A | CA474959017 | PYGM | c.1689C>T (p.Leu563=) c.1425C>T (p.Leu475=) n.13C>T | |
| 11 | g.64752003G>C | CA474959018 | PYGM | c.1689C>G (p.Leu563=) c.1425C>G (p.Leu475=) n.13C>G | |
| 11 | g.64752003G>T | CA474959019 | PYGM | c.1689C>A (p.Leu563=) c.1425C>A (p.Leu475=) n.13C>A | |
| 11 | g.64752004A>C | CA381170829 | PYGM | c.1688T>G (p.Leu563Arg) c.1424T>G (p.Leu475Arg) n.12T>G | |
| 11 | g.64752004A>G | CA381170833 | PYGM | c.1688T>C (p.Leu563Pro) c.1424T>C (p.Leu475Pro) n.12T>C | |
| 11 | g.64752004A>T | CA381170835 | PYGM | c.1688T>A (p.Leu563His) c.1424T>A (p.Leu475His) n.12T>A | |
| 11 | g.64752005G>A | CA6079780 | PYGM | c.1687C>T (p.Leu563Phe) c.1423C>T (p.Leu475Phe) n.11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64752005G>C | CA381170845 | PYGM | c.1687C>G (p.Leu563Val) c.1423C>G (p.Leu475Val) n.11C>G | |
| 11 | g.64752005G= | CA1978918048 | PYGM | c.1687C= (p.Leu563=) c.1423C= (p.Leu475=) n.11C= | |
| 11 | g.64752005G>T | CA381170842 | PYGM | c.1687C>A (p.Leu563Ile) c.1423C>A (p.Leu475Ile) n.11C>A | |
| 11 | g.64752006T>A | CA474959022 | PYGM | c.1686A>T (p.Ser562=) c.1422A>T (p.Ser474=) n.10A>T | |
| 11 | g.64752006T>C | CA474959021 | PYGM | c.1686A>G (p.Ser562=) c.1422A>G (p.Ser474=) n.10A>G | dbSNP |
| 11 | g.64752006T>G | CA474959020 | PYGM | c.1686A>C (p.Ser562=) c.1422A>C (p.Ser474=) n.10A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64752006T= | CA1978918051 | PYGM | c.1686A= (p.Ser562=) c.1422A= (p.Ser474=) n.10A= | |
| 11 | g.64752007G>A | CA381170852 | PYGM | c.1685C>T (p.Ser562Leu) c.1421C>T (p.Ser474Leu) n.9C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.64752007G>C | CA381170855 | PYGM | c.1685C>G (p.Ser562Ter) c.1421C>G (p.Ser474Ter) n.9C>G | |
| 11 | g.64752007G= | CA1978918052 | PYGM | c.1685C= (p.Ser562=) c.1421C= (p.Ser474=) n.9C= | |
| 11 | g.64752007G>T | CA381170857 | PYGM | c.1685C>A (p.Ser562Ter) c.1421C>A (p.Ser474Ter) n.9C>A | |
| 11 | g.64752008A>C | CA381170863 | PYGM | c.1684T>G (p.Ser562Ala) c.1420T>G (p.Ser474Ala) n.8T>G | |
| 11 | g.64752008A>G | CA381170866 | PYGM | c.1684T>C (p.Ser562Pro) c.1420T>C (p.Ser474Pro) n.8T>C | |
| 11 | g.64752008A>T | CA381170868 | PYGM | c.1684T>A (p.Ser562Thr) c.1420T>A (p.Ser474Thr) n.8T>A | |
| 11 | g.64752009G>A | CA474959023 | PYGM | c.1683C>T (p.Asn561=) c.1419C>T (p.Asn473=) n.7C>T | |
| 11 | g.64752009G>C | CA381170874 | PYGM | c.1683C>G (p.Asn561Lys) c.1419C>G (p.Asn473Lys) n.7C>G | gnomAD v4 |
| 11 | g.64752009G= | CA1978918056 | PYGM | c.1683C= (p.Asn561=) c.1419C= (p.Asn473=) n.7C= | |
| 11 | g.64752009G>T | CA381170878 | PYGM | c.1683C>A (p.Asn561Lys) c.1419C>A (p.Asn473Lys) n.7C>A | dbSNP |
| 11 | g.64752010T>A | CA381170882 | PYGM | c.1682A>T (p.Asn561Ile) c.1418A>T (p.Asn473Ile) n.6A>T | |
| 11 | g.64752010T>C | CA381170883 | PYGM | c.1682A>G (p.Asn561Ser) c.1418A>G (p.Asn473Ser) n.6A>G | gnomAD v4 |
| 11 | g.64752010T>G | CA381170886 | PYGM | c.1682A>C (p.Asn561Thr) c.1418A>C (p.Asn473Thr) n.6A>C | |
| 11 | g.64752011T>A | CA381170892 | PYGM | c.1681A>T (p.Asn561Tyr) c.1417A>T (p.Asn473Tyr) n.5A>T | |
| 11 | g.64752011T>C | CA381170896 | PYGM | c.1681A>G (p.Asn561Asp) c.1417A>G (p.Asn473Asp) n.5A>G | |
| 11 | g.64752011T>G | CA381170898 | PYGM | c.1681A>C (p.Asn561His) c.1417A>C (p.Asn473His) n.5A>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64752011T= | CA1978918060 | PYGM | c.1681A= (p.Asn561=) c.1417A= (p.Asn473=) n.5A= | |
| 11 | g.64752011_64752012delinsTG | CA1978918059 | PYGM | c.1680_1681delinsCA (p.Pro560=) c.1416_1417delinsCA (p.Pro472=) n.4_5delinsCA | |
| 11 | g.64752012G>A | CA474959024 | PYGM | c.1680C>T (p.Pro560=) c.1416C>T (p.Pro472=) n.4C>T | dbSNP |
| 11 | g.64752012G>C | CA474959025 | PYGM | c.1680C>G (p.Pro560=) c.1416C>G (p.Pro472=) n.4C>G | |
| 11 | g.64752012G>T | CA474959026 | PYGM | c.1680C>A (p.Pro560=) c.1416C>A (p.Pro472=) n.4C>A | |
| 11 | g.64752015del | CA16041499 | PYGM | c.1680del (p.Asn561ThrfsTer8) c.1416del (p.Asn473ThrfsTer8) n.4del | ClinVar dbSNP |
| 11 | g.64752013G>A | CA381170906 | PYGM | c.1679C>T (p.Pro560Leu) c.1415C>T (p.Pro472Leu) n.3C>T | gnomAD v4 |
| 11 | g.64752013G>C | CA381170908 | PYGM | c.1679C>G (p.Pro560Arg) c.1415C>G (p.Pro472Arg) n.3C>G | |
| 11 | g.64752013G>T | CA381170911 | PYGM | c.1679C>A (p.Pro560His) c.1415C>A (p.Pro472His) n.3C>A | |
| 11 | g.64752014G>A | CA381170915 | PYGM | c.1678C>T (p.Pro560Ser) c.1414C>T (p.Pro472Ser) n.2C>T | dbSNP |
| 11 | g.64752014G>C | CA381170918 | PYGM | c.1678C>G (p.Pro560Ala) c.1414C>G (p.Pro472Ala) n.2C>G | |
| 11 | g.64752014G>T | CA381170921 | PYGM | c.1678C>A (p.Pro560Thr) c.1414C>A (p.Pro472Thr) n.2C>A | |
| 11 | g.64752015G>A | CA6079781 | PYGM | c.1677C>T (p.Asn559=) c.1413C>T (p.Asn471=) n.1C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64752015G>C | CA381170922 | PYGM | c.1677C>G (p.Asn559Lys) c.1413C>G (p.Asn471Lys) n.1C>G | |
| 11 | g.64752015G= | CA1978918066 | PYGM | c.1677C= (p.Asn559=) c.1413C= (p.Asn471=) n.1C= | |
| 11 | g.64752015G>T | CA381170923 | PYGM | c.1677C>A (p.Asn559Lys) c.1413C>A (p.Asn471Lys) n.1C>A | |
| 11 | g.64752016T>A | CA381170925 | PYGM | c.1676A>T (p.Asn559Ile) c.1412A>T (p.Asn471Ile) | |
| 11 | g.64752016T>C | CA6079782 | PYGM | c.1676A>G (p.Asn559Ser) c.1412A>G (p.Asn471Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.64752016T>G | CA381170928 | PYGM | c.1676A>C (p.Asn559Thr) c.1412A>C (p.Asn471Thr) | |
| 11 | g.64752016T= | CA1978918070 | PYGM | c.1676A= (p.Asn559=) c.1412A= (p.Asn471=) | |
| 11 | g.64752017T>A | CA381170937 | PYGM | c.1675A>T (p.Asn559Tyr) c.1411A>T (p.Asn471Tyr) | |
| 11 | g.64752017T>C | CA381170934 | PYGM | c.1675A>G (p.Asn559Asp) c.1411A>G (p.Asn471Asp) | |
| 11 | g.64752017T>G | CA381170932 | PYGM | c.1675A>C (p.Asn559His) c.1411A>C (p.Asn471His) | |
| 11 | g.64752018G>A | CA474959027 | PYGM | c.1674C>T (p.Ile558=) c.1410C>T (p.Ile470=) | |
| 11 | g.64752018G>C | CA381170940 | PYGM | c.1674C>G (p.Ile558Met) c.1410C>G (p.Ile470Met) | gnomAD v4 |
| 11 | g.64752018G= | CA1978918074 | PYGM | c.1674C= (p.Ile558=) c.1410C= (p.Ile470=) | |
| 11 | g.64752018G>T | CA474959028 | PYGM | c.1674C>A (p.Ile558=) c.1410C>A (p.Ile470=) | |
| 11 | g.64752019A= | CA1978918082 | PYGM | c.1673T= (p.Ile558=) c.1409T= (p.Ile470=) | |
| 11 | g.64752019A>C | CA381170954 | PYGM | c.1673T>G (p.Ile558Ser) c.1409T>G (p.Ile470Ser) | |
| 11 | g.64752019A>G | CA381170953 | PYGM | c.1673T>C (p.Ile558Thr) c.1409T>C (p.Ile470Thr) | |
| 11 | g.64752019A>T | CA381170957 | PYGM | c.1673T>A (p.Ile558Asn) c.1409T>A (p.Ile470Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64752019dup | CA599653163 | PYGM | c.1673dup (p.Asn559GlnfsTer17) c.1409dup (p.Asn471GlnfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64752020T>A | CA381170959 | PYGM | c.1672A>T (p.Ile558Phe) c.1408A>T (p.Ile470Phe) | |
| 11 | g.64752020T>C | CA381170964 | PYGM | c.1672A>G (p.Ile558Val) c.1408A>G (p.Ile470Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64752020T>G | CA381170962 | PYGM | c.1672A>C (p.Ile558Leu) c.1408A>C (p.Ile470Leu) | |
| 11 | g.64752020T= | CA1978918086 | PYGM | c.1672A= (p.Ile558=) c.1408A= (p.Ile470=) | |
| 11 | g.64752021G>A | CA474959029 | PYGM | c.1671C>T (p.His557=) c.1407C>T (p.His469=) | gnomAD v4 |
| 11 | g.64752021G>C | CA381170966 | PYGM | c.1671C>G (p.His557Gln) c.1407C>G (p.His469Gln) | |
| 11 | g.64752021G>T | CA381170968 | PYGM | c.1671C>A (p.His557Gln) c.1407C>A (p.His469Gln) | gnomAD v4 |
| 11 | g.64752022T>A | CA381170971 | PYGM | c.1670A>T (p.His557Leu) c.1406A>T (p.His469Leu) | |
| 11 | g.64752022T>C | CA6079783 | PYGM | c.1670A>G (p.His557Arg) c.1406A>G (p.His469Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64752022T>G | CA381170975 | PYGM | c.1670A>C (p.His557Pro) c.1406A>C (p.His469Pro) | |
| 11 | g.64752022T= | CA1978918109 | PYGM | c.1670A= (p.His557=) c.1406A= (p.His469=) | |
| 11 | g.64752023G>A | CA381170977 | PYGM | c.1669C>T (p.His557Tyr) c.1405C>T (p.His469Tyr) | gnomAD v4 |
| 11 | g.64752023G>C | CA381170981 | PYGM | c.1669C>G (p.His557Asp) c.1405C>G (p.His469Asp) | |
| 11 | g.64752023G>T | CA381170983 | PYGM | c.1669C>A (p.His557Asn) c.1405C>A (p.His469Asn) | |
| 11 | g.64752024G>A | CA474959030 | PYGM | c.1668C>T (p.Val556=) c.1404C>T (p.Val468=) | |
| 11 | g.64752024G>C | CA6079784 | PYGM | c.1668C>G (p.Val556=) c.1404C>G (p.Val468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64752024G= | CA1978918117 | PYGM | c.1668C= (p.Val556=) c.1404C= (p.Val468=) | |
| 11 | g.64752024G>T | CA474959031 | PYGM | c.1668C>A (p.Val556=) c.1404C>A (p.Val468=) | |
| 11 | g.64752025A>C | CA381170986 | PYGM | c.1667T>G (p.Val556Gly) c.1403T>G (p.Val468Gly) | gnomAD v4 |
| 11 | g.64752025A>G | CA381170988 | PYGM | c.1667T>C (p.Val556Ala) c.1403T>C (p.Val468Ala) | |
| 11 | g.64752025A>T | CA381170998 | PYGM | c.1667T>A (p.Val556Asp) c.1403T>A (p.Val468Asp) | |
| 11 | g.64752026C>A | CA381171004 | PYGM | c.1666G>T (p.Val556Phe) c.1402G>T (p.Val468Phe) | |
| 11 | g.64752026C>G | CA381171002 | PYGM | c.1666G>C (p.Val556Leu) c.1402G>C (p.Val468Leu) | |
| 11 | g.64752026C>T | CA381171001 | PYGM | c.1666G>A (p.Val556Ile) c.1402G>A (p.Val468Ile) | |
| 11 | g.64752027T>A | CA381171006 | PYGM | c.1665A>T (p.Lys555Asn) c.1401A>T (p.Lys467Asn) | |
| 11 | g.64752027T>C | CA474959032 | PYGM | c.1665A>G (p.Lys555=) c.1401A>G (p.Lys467=) | |
| 11 | g.64752027T>G | CA381171010 | PYGM | c.1665A>C (p.Lys555Asn) c.1401A>C (p.Lys467Asn) | |
| 11 | g.64752028T>A | CA381171013 | PYGM | c.1664A>T (p.Lys555Ile) c.1400A>T (p.Lys467Ile) | |
| 11 | g.64752028T>C | CA381171016 | PYGM | c.1664A>G (p.Lys555Arg) c.1400A>G (p.Lys467Arg) | |
| 11 | g.64752028T>G | CA381171019 | PYGM | c.1664A>C (p.Lys555Thr) c.1400A>C (p.Lys467Thr) |