UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64750394T>A | CA381167524 | PYGM | c.2159A>T (p.Asp720Val) c.1895A>T (p.Asp632Val) | dbSNP gnomAD v4 |
| 11 | g.64750394T>C | CA381167525 | PYGM | c.2159A>G (p.Asp720Gly) c.1895A>G (p.Asp632Gly) | gnomAD v4 COSMIC |
| 11 | g.64750394T>G | CA381167526 | PYGM | c.2159A>C (p.Asp720Ala) c.1895A>C (p.Asp632Ala) | |
| 11 | g.64750394T= | CA1978912987 | PYGM | c.2159A= (p.Asp720=) c.1895A= (p.Asp632=) | |
| 11 | g.64750395C>A | CA381167529 | PYGM | c.2158G>T (p.Asp720Tyr) c.1894G>T (p.Asp632Tyr) | |
| 11 | g.64750395C= | CA1978912990 | PYGM | c.2158G= (p.Asp720=) c.1894G= (p.Asp632=) | |
| 11 | g.64750395C>G | CA381167527 | PYGM | c.2158G>C (p.Asp720His) c.1894G>C (p.Asp632His) | |
| 11 | g.64750395C>T | CA381167528 | PYGM | c.2158G>A (p.Asp720Asn) c.1894G>A (p.Asp632Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750396C>A | CA474958632 | PYGM | c.2157G>T (p.Val719=) c.1893G>T (p.Val631=) | |
| 11 | g.64750396C= | CA1978913002 | PYGM | c.2157G= (p.Val719=) c.1893G= (p.Val631=) | |
| 11 | g.64750396C>G | CA474958633 | PYGM | c.2157G>C (p.Val719=) c.1893G>C (p.Val631=) | |
| 11 | g.64750396C>T | CA474958634 | PYGM | c.2157G>A (p.Val719=) c.1893G>A (p.Val631=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750397A= | CA1978913006 | PYGM | c.2156T= (p.Val719=) c.1892T= (p.Val631=) | |
| 11 | g.64750397A>C | CA381167530 | PYGM | c.2156T>G (p.Val719Gly) c.1892T>G (p.Val631Gly) | |
| 11 | g.64750397A>G | CA381167531 | PYGM | c.2156T>C (p.Val719Ala) c.1892T>C (p.Val631Ala) | dbSNP |
| 11 | g.64750397A>T | CA381167532 | PYGM | c.2156T>A (p.Val719Glu) c.1892T>A (p.Val631Glu) | |
| 11 | g.64750398C>A | CA381167533 | PYGM | c.2155G>T (p.Val719Leu) c.1891G>T (p.Val631Leu) | |
| 11 | g.64750398C= | CA1978913009 | PYGM | c.2155G= (p.Val719=) c.1891G= (p.Val631=) | |
| 11 | g.64750398C>G | CA381167534 | PYGM | c.2155G>C (p.Val719Leu) c.1891G>C (p.Val631Leu) | |
| 11 | g.64750398C>T | CA381167535 | PYGM | c.2155G>A (p.Val719Met) c.1891G>A (p.Val631Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750399del | CA2573147413 | PYGM | c.2154del (p.Asp718GlufsTer29) c.1890del (p.Asp630GlufsTer29) | ClinVar dbSNP |
| 11 | g.64750399A>C | CA381167536 | PYGM | c.2154T>G (p.Asp718Glu) c.1890T>G (p.Asp630Glu) | |
| 11 | g.64750399A>G | CA474958635 | PYGM | c.2154T>C (p.Asp718=) c.1890T>C (p.Asp630=) | gnomAD v4 |
| 11 | g.64750399A>T | CA381167537 | PYGM | c.2154T>A (p.Asp718Glu) c.1890T>A (p.Asp630Glu) | |
| 11 | g.64750400T>A | CA6079626 | PYGM | c.2153A>T (p.Asp718Val) c.1889A>T (p.Asp630Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750400T>C | CA381167538 | PYGM | c.2153A>G (p.Asp718Gly) c.1889A>G (p.Asp630Gly) | |
| 11 | g.64750400T>G | CA381167539 | PYGM | c.2153A>C (p.Asp718Ala) c.1889A>C (p.Asp630Ala) | gnomAD v3 gnomAD v4 |
| 11 | g.64750400T= | CA1978913012 | PYGM | c.2153A= (p.Asp718=) c.1889A= (p.Asp630=) | |
| 11 | g.64750401C>A | CA381167542 | PYGM | c.2152G>T (p.Asp718Tyr) c.1888G>T (p.Asp630Tyr) | |
| 11 | g.64750401C>G | CA381167541 | PYGM | c.2152G>C (p.Asp718His) c.1888G>C (p.Asp630His) | |
| 11 | g.64750401C>T | CA381167540 | PYGM | c.2152G>A (p.Asp718Asn) c.1888G>A (p.Asp630Asn) | |
| 11 | g.64750402C>A | CA381167543 | PYGM | c.2151G>T (p.Glu717Asp) c.1887G>T (p.Glu629Asp) | |
| 11 | g.64750402C>G | CA381167544 | PYGM | c.2151G>C (p.Glu717Asp) c.1887G>C (p.Glu629Asp) | |
| 11 | g.64750402C>T | CA474958636 | PYGM | c.2151G>A (p.Glu717=) c.1887G>A (p.Glu629=) | ClinVar |
| 11 | g.64750403T>A | CA381167545 | PYGM | c.2150A>T (p.Glu717Val) c.1886A>T (p.Glu629Val) | |
| 11 | g.64750403T>C | CA6079627 | PYGM | c.2150A>G (p.Glu717Gly) c.1886A>G (p.Glu629Gly) | dbSNP ExAC |
| 11 | g.64750403T>G | CA381167546 | PYGM | c.2150A>C (p.Glu717Ala) c.1886A>C (p.Glu629Ala) | |
| 11 | g.64750403T= | CA1978913033 | PYGM | c.2150A= (p.Glu717=) c.1886A= (p.Glu629=) | |
| 11 | g.64750404C>A | CA381167547 | PYGM | c.2149G>T (p.Glu717Ter) c.1885G>T (p.Glu629Ter) | |
| 11 | g.64750404C>G | CA381167549 | PYGM | c.2149G>C (p.Glu717Gln) c.1885G>C (p.Glu629Gln) | |
| 11 | g.64750404C>T | CA381167548 | PYGM | c.2149G>A (p.Glu717Lys) c.1885G>A (p.Glu629Lys) | gnomAD v4 |
| 11 | g.64750405C>A | CA474958637 | PYGM | c.2148G>T (p.Val716=) c.1884G>T (p.Val628=) | |
| 11 | g.64750405C>G | CA474958639 | PYGM | c.2148G>C (p.Val716=) c.1884G>C (p.Val628=) | |
| 11 | g.64750405C>T | CA474958638 | PYGM | c.2148G>A (p.Val716=) c.1884G>A (p.Val628=) | gnomAD v4 |
| 11 | g.64750406A= | CA1978913052 | PYGM | c.2147T= (p.Val716=) c.1883T= (p.Val628=) | |
| 11 | g.64750406A>C | CA240892 | PYGM | c.2147T>G (p.Val716Gly) c.1883T>G (p.Val628Gly) | ClinVar dbSNP ExAC |
| 11 | g.64750406A>G | CA381167550 | PYGM | c.2147T>C (p.Val716Ala) c.1883T>C (p.Val628Ala) | |
| 11 | g.64750406A>T | CA381167551 | PYGM | c.2147T>A (p.Val716Glu) c.1883T>A (p.Val628Glu) | |
| 11 | g.64750407C>A | CA381167552 | PYGM | c.2146G>T (p.Val716Leu) c.1882G>T (p.Val628Leu) | |
| 11 | g.64750407C= | CA1978913068 | PYGM | c.2146G= (p.Val716=) c.1882G= (p.Val628=) | |
| 11 | g.64750407C>G | CA381167553 | PYGM | c.2146G>C (p.Val716Leu) c.1882G>C (p.Val628Leu) | dbSNP |
| 11 | g.64750407C>T | CA381167554 | PYGM | c.2146G>A (p.Val716Met) c.1882G>A (p.Val628Met) | dbSNP |
| 11 | g.64750409dup | CA2739270508 | PYGM | c.2146dup (p.Val716GlyfsTer6) c.1882dup (p.Val628GlyfsTer6) | ClinVar |
| 11 | g.64750408C>A | CA474958640 | PYGM | c.2145G>T (p.Arg715=) c.1881G>T (p.Arg627=) | |
| 11 | g.64750408C= | CA1978913075 | PYGM | c.2145G= (p.Arg715=) c.1881G= (p.Arg627=) | |
| 11 | g.64750408C>G | CA474958641 | PYGM | c.2145G>C (p.Arg715=) c.1881G>C (p.Arg627=) | |
| 11 | g.64750408C>T | CA474958642 | PYGM | c.2145G>A (p.Arg715=) c.1881G>A (p.Arg627=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750409C>A | CA381167555 | PYGM | c.2144G>T (p.Arg715Leu) c.1880G>T (p.Arg627Leu) | |
| 11 | g.64750409C= | CA1978913077 | PYGM | c.2144G= (p.Arg715=) c.1880G= (p.Arg627=) | |
| 11 | g.64750409C>G | CA381167556 | PYGM | c.2144G>C (p.Arg715Pro) c.1880G>C (p.Arg627Pro) | |
| 11 | g.64750409C>T | CA6079628 | PYGM | c.2144G>A (p.Arg715Gln) c.1880G>A (p.Arg627Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750410G>A | CA381167557 | PYGM | c.2143C>T (p.Arg715Trp) c.1879C>T (p.Arg627Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750410G>C | CA381167558 | PYGM | c.2143C>G (p.Arg715Gly) c.1879C>G (p.Arg627Gly) | dbSNP |
| 11 | g.64750410G= | CA1978913088 | PYGM | c.2143C= (p.Arg715=) c.1879C= (p.Arg627=) | |
| 11 | g.64750410G>T | CA6079629 | PYGM | c.2143C>A (p.Arg715=) c.1879C>A (p.Arg627=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750411C>A | CA381167559 | PYGM | c.2142G>T (p.Met714Ile) c.1878G>T (p.Met626Ile) | |
| 11 | g.64750411C>G | CA381167561 | PYGM | c.2142G>C (p.Met714Ile) c.1878G>C (p.Met626Ile) | |
| 11 | g.64750411C>T | CA381167560 | PYGM | c.2142G>A (p.Met714Ile) c.1878G>A (p.Met626Ile) | gnomAD v4 |
| 11 | g.64750412A>C | CA381167562 | PYGM | c.2141T>G (p.Met714Arg) c.1877T>G (p.Met626Arg) | |
| 11 | g.64750412A>G | CA381167563 | PYGM | c.2141T>C (p.Met714Thr) c.1877T>C (p.Met626Thr) | |
| 11 | g.64750412A>T | CA381167564 | PYGM | c.2141T>A (p.Met714Lys) c.1877T>A (p.Met626Lys) | |
| 11 | g.64750413T>A | CA381167565 | PYGM | c.2140A>T (p.Met714Leu) c.1876A>T (p.Met626Leu) | |
| 11 | g.64750413T>C | CA381167566 | PYGM | c.2140A>G (p.Met714Val) c.1876A>G (p.Met626Val) | |
| 11 | g.64750413T>G | CA381167567 | PYGM | c.2140A>C (p.Met714Leu) c.1876A>C (p.Met626Leu) | |
| 11 | g.64750414G>A | CA474958645 | PYGM | c.2139C>T (p.Gly713=) c.1875C>T (p.Gly625=) | gnomAD v4 |
| 11 | g.64750414G>C | CA474958643 | PYGM | c.2139C>G (p.Gly713=) c.1875C>G (p.Gly625=) | |
| 11 | g.64750414G>T | CA474958644 | PYGM | c.2139C>A (p.Gly713=) c.1875C>A (p.Gly625=) | |
| 11 | g.64750415C>A | CA381167568 | PYGM | c.2138G>T (p.Gly713Val) c.1874G>T (p.Gly625Val) | gnomAD v4 |
| 11 | g.64750415C= | CA1978913105 | PYGM | c.2138G= (p.Gly713=) c.1874G= (p.Gly625=) | |
| 11 | g.64750415C>G | CA6079630 | PYGM | c.2138G>C (p.Gly713Ala) c.1874G>C (p.Gly625Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750415C>T | CA381167569 | PYGM | c.2138G>A (p.Gly713Asp) c.1874G>A (p.Gly625Asp) | COSMIC |
| 11 | g.64750416C>A | CA6079631 | PYGM | c.2137G>T (p.Gly713Cys) c.1873G>T (p.Gly625Cys) | dbSNP ExAC |
| 11 | g.64750416C= | CA1978913124 | PYGM | c.2137G= (p.Gly713=) c.1873G= (p.Gly625=) | |
| 11 | g.64750416C>G | CA381167571 | PYGM | c.2137G>C (p.Gly713Arg) c.1873G>C (p.Gly625Arg) | |
| 11 | g.64750416C>T | CA381167570 | PYGM | c.2137G>A (p.Gly713Ser) c.1873G>A (p.Gly625Ser) | |
| 11 | g.64750417A= | CA1978913135 | PYGM | c.2136T= (p.Phe712=) c.1872T= (p.Phe624=) | |
| 11 | g.64750417A>C | CA381167572 | PYGM | c.2136T>G (p.Phe712Leu) c.1872T>G (p.Phe624Leu) | |
| 11 | g.64750417A>G | CA474958646 | PYGM | c.2136T>C (p.Phe712=) c.1872T>C (p.Phe624=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750417A>T | CA381167573 | PYGM | c.2136T>A (p.Phe712Leu) c.1872T>A (p.Phe624Leu) | |
| 11 | g.64750419dup | CA16041495 | PYGM | c.2136dup (p.Gly713TrpfsTer9) c.1872dup (p.Gly625TrpfsTer9) | ClinVar dbSNP |
| 11 | g.64750418A= | CA1978913144 | PYGM | c.2135T= (p.Phe712=) c.1871T= (p.Phe624=) | |
| 11 | g.64750418A>C | CA381167574 | PYGM | c.2135T>G (p.Phe712Cys) c.1871T>G (p.Phe624Cys) | |
| 11 | g.64750418A>G | CA381167575 | PYGM | c.2135T>C (p.Phe712Ser) c.1871T>C (p.Phe624Ser) | dbSNP gnomAD v4 |
| 11 | g.64750418A>T | CA381167576 | PYGM | c.2135T>A (p.Phe712Tyr) c.1871T>A (p.Phe624Tyr) | |
| 11 | g.64750419A>C | CA381167577 | PYGM | c.2134T>G (p.Phe712Val) c.1870T>G (p.Phe624Val) | |
| 11 | g.64750419A>G | CA381167578 | PYGM | c.2134T>C (p.Phe712Leu) c.1870T>C (p.Phe624Leu) | |
| 11 | g.64750419A>T | CA381167579 | PYGM | c.2134T>A (p.Phe712Ile) c.1870T>A (p.Phe624Ile) | |
| 11 | g.64750420G>A | CA474958647 | PYGM | c.2133C>T (p.Ile711=) c.1869C>T (p.Ile623=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750420G>C | CA381167580 | PYGM | c.2133C>G (p.Ile711Met) c.1869C>G (p.Ile623Met) | COSMIC |
| 11 | g.64750420G= | CA1978913146 | PYGM | c.2133C= (p.Ile711=) c.1869C= (p.Ile623=) | |
| 11 | g.64750420G>T | CA474958648 | PYGM | c.2133C>A (p.Ile711=) c.1869C>A (p.Ile623=) | |
| 11 | g.64750421A= | CA1978913170 | PYGM | c.2132T= (p.Ile711=) c.1868T= (p.Ile623=) | |
| 11 | g.64750421A>C | CA381167581 | PYGM | c.2132T>G (p.Ile711Ser) c.1868T>G (p.Ile623Ser) | |
| 11 | g.64750421A>G | CA6079632 | PYGM | c.2132T>C (p.Ile711Thr) c.1868T>C (p.Ile623Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750421A>T | CA381167582 | PYGM | c.2132T>A (p.Ile711Asn) c.1868T>A (p.Ile623Asn) | |
| 11 | g.64750422T>A | CA381167588 | PYGM | c.2131A>T (p.Ile711Phe) c.1867A>T (p.Ile623Phe) | |
| 11 | g.64750422T>C | CA381167584 | PYGM | c.2131A>G (p.Ile711Val) c.1867A>G (p.Ile623Val) | |
| 11 | g.64750422T>G | CA381167586 | PYGM | c.2131A>C (p.Ile711Leu) c.1867A>C (p.Ile623Leu) | |
| 11 | g.64750422_64750425delinsTGAA | CA1978913173 | PYGM | c.2128_2131delinsTTCA (p.Phe710=) c.1864_1867delinsTTCA (p.Phe622=) | |
| 11 | g.64750423G>A | CA474958649 | PYGM | c.2130C>T (p.Phe710=) c.1866C>T (p.Phe622=) | |
| 11 | g.64750423G>C | CA381167591 | PYGM | c.2130C>G (p.Phe710Leu) c.1866C>G (p.Phe622Leu) | |
| 11 | g.64750423G>T | CA381167592 | PYGM | c.2130C>A (p.Phe710Leu) c.1866C>A (p.Phe622Leu) | |
| 11 | g.64750427_64750429del | CA345698 | PYGM | c.2128_2130del (p.Phe710del) c.1864_1866del (p.Phe622del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750424A>C | CA381167594 | PYGM | c.2129T>G (p.Phe710Cys) c.1865T>G (p.Phe622Cys) | |
| 11 | g.64750424A>G | CA381167595 | PYGM | c.2129T>C (p.Phe710Ser) c.1865T>C (p.Phe622Ser) | |
| 11 | g.64750424A>T | CA381167597 | PYGM | c.2129T>A (p.Phe710Tyr) c.1865T>A (p.Phe622Tyr) | |
| 11 | g.64750425A>C | CA381167599 | PYGM | c.2128T>G (p.Phe710Val) c.1864T>G (p.Phe622Val) | |
| 11 | g.64750425A>G | CA381167601 | PYGM | c.2128T>C (p.Phe710Leu) c.1864T>C (p.Phe622Leu) | |
| 11 | g.64750425A>T | CA381167603 | PYGM | c.2128T>A (p.Phe710Ile) c.1864T>A (p.Phe622Ile) | |
| 11 | g.64750426G>A | CA223897741 | PYGM | c.2127C>T (p.Phe709=) c.1863C>T (p.Phe621=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750426G>C | CA381167606 | PYGM | c.2127C>G (p.Phe709Leu) c.1863C>G (p.Phe621Leu) | |
| 11 | g.64750426G= | CA1978913181 | PYGM | c.2127C= (p.Phe709=) c.1863C= (p.Phe621=) | |
| 11 | g.64750426G>T | CA381167608 | PYGM | c.2127C>A (p.Phe709Leu) c.1863C>A (p.Phe621Leu) | ClinVar |
| 11 | g.64750427A>C | CA381167613 | PYGM | c.2126T>G (p.Phe709Cys) c.1862T>G (p.Phe621Cys) | |
| 11 | g.64750427A>G | CA381167615 | PYGM | c.2126T>C (p.Phe709Ser) c.1862T>C (p.Phe621Ser) | |
| 11 | g.64750427A>T | CA381167612 | PYGM | c.2126T>A (p.Phe709Tyr) c.1862T>A (p.Phe621Tyr) | |
| 11 | g.64750428A>C | CA381167622 | PYGM | c.2125T>G (p.Phe709Val) c.1861T>G (p.Phe621Val) | |
| 11 | g.64750428A>G | CA381167618 | PYGM | c.2125T>C (p.Phe709Leu) c.1861T>C (p.Phe621Leu) | gnomAD v4 |
| 11 | g.64750428A>T | CA381167620 | PYGM | c.2125T>A (p.Phe709Ile) c.1861T>A (p.Phe621Ile) | |
| 11 | g.64750429G>A | CA474958650 | PYGM | c.2124C>T (p.Asn708=) c.1860C>T (p.Asn620=) | gnomAD v4 |
| 11 | g.64750429G>C | CA381167624 | PYGM | c.2124C>G (p.Asn708Lys) c.1860C>G (p.Asn620Lys) | |
| 11 | g.64750429G>T | CA381167625 | PYGM | c.2124C>A (p.Asn708Lys) c.1860C>A (p.Asn620Lys) | |
| 11 | g.64750430T>A | CA381167627 | PYGM | c.2123A>T (p.Asn708Ile) c.1859A>T (p.Asn620Ile) | ClinVar gnomAD v4 |
| 11 | g.64750430T>C | CA381167629 | PYGM | c.2123A>G (p.Asn708Ser) c.1859A>G (p.Asn620Ser) | |
| 11 | g.64750430T>G | CA381167630 | PYGM | c.2123A>C (p.Asn708Thr) c.1859A>C (p.Asn620Thr) | |
| 11 | g.64750431T>A | CA381167632 | PYGM | c.2122A>T (p.Asn708Tyr) c.1858A>T (p.Asn620Tyr) | |
| 11 | g.64750431T>C | CA381167634 | PYGM | c.2122A>G (p.Asn708Asp) c.1858A>G (p.Asn620Asp) | |
| 11 | g.64750431T>G | CA381167636 | PYGM | c.2122A>C (p.Asn708His) c.1858A>C (p.Asn620His) | |
| 11 | g.64750432T>A | CA381167639 | PYGM | c.2121A>T (p.Glu707Asp) c.1857A>T (p.Glu619Asp) | |
| 11 | g.64750432T>C | CA6079633 | PYGM | c.2121A>G (p.Glu707=) c.1857A>G (p.Glu619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750432T>G | CA381167642 | PYGM | c.2121A>C (p.Glu707Asp) c.1857A>C (p.Glu619Asp) | |
| 11 | g.64750432T= | CA1978913194 | PYGM | c.2121A= (p.Glu707=) c.1857A= (p.Glu619=) | |
| 11 | g.64750433T>A | CA381167650 | PYGM | c.2120A>T (p.Glu707Val) c.1856A>T (p.Glu619Val) | |
| 11 | g.64750433T>C | CA381167646 | PYGM | c.2120A>G (p.Glu707Gly) c.1856A>G (p.Glu619Gly) | dbSNP gnomAD v2 |
| 11 | g.64750433T>G | CA381167648 | PYGM | c.2120A>C (p.Glu707Ala) c.1856A>C (p.Glu619Ala) | |
| 11 | g.64750433T= | CA1978913223 | PYGM | c.2120A= (p.Glu707=) c.1856A= (p.Glu619=) | |
| 11 | g.64750434C>A | CA381167654 | PYGM | c.2119G>T (p.Glu707Ter) c.1855G>T (p.Glu619Ter) | |
| 11 | g.64750434C>G | CA381167656 | PYGM | c.2119G>C (p.Glu707Gln) c.1855G>C (p.Glu619Gln) | |
| 11 | g.64750434C>T | CA381167658 | PYGM | c.2119G>A (p.Glu707Lys) c.1855G>A (p.Glu619Lys) | |
| 11 | g.64750435dup | CA223897747 | PYGM | c.2119dup (p.Glu707GlyfsTer15) c.1855dup (p.Glu619GlyfsTer15) | dbSNP |
| 11 | g.64750435C>A | CA381167661 | PYGM | c.2118G>T (p.Glu706Asp) c.1854G>T (p.Glu618Asp) | |
| 11 | g.64750435C>G | CA381167663 | PYGM | c.2118G>C (p.Glu706Asp) c.1854G>C (p.Glu618Asp) | |
| 11 | g.64750435C>T | CA474958651 | PYGM | c.2118G>A (p.Glu706=) c.1854G>A (p.Glu618=) | ClinVar dbSNP |
| 11 | g.64750436T>A | CA6079634 | PYGM | c.2117A>T (p.Glu706Val) c.1853A>T (p.Glu618Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750436T>C | CA381167667 | PYGM | c.2117A>G (p.Glu706Gly) c.1853A>G (p.Glu618Gly) | dbSNP |
| 11 | g.64750436T>G | CA381167670 | PYGM | c.2117A>C (p.Glu706Ala) c.1853A>C (p.Glu618Ala) | |
| 11 | g.64750436T= | CA1978913226 | PYGM | c.2117A= (p.Glu706=) c.1853A= (p.Glu618=) | |
| 11 | g.64750437C>A | CA381167672 | PYGM | c.2116G>T (p.Glu706Ter) c.1852G>T (p.Glu618Ter) | |
| 11 | g.64750437C= | CA1978913231 | PYGM | c.2116G= (p.Glu706=) c.1852G= (p.Glu618=) | |
| 11 | g.64750437C>G | CA381167674 | PYGM | c.2116G>C (p.Glu706Gln) c.1852G>C (p.Glu618Gln) | COSMIC |
| 11 | g.64750437C>T | CA223897752 | PYGM | c.2116G>A (p.Glu706Lys) c.1852G>A (p.Glu618Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750438T>A | CA474958652 | PYGM | c.2115A>T (p.Gly705=) c.1851A>T (p.Gly617=) | |
| 11 | g.64750438T>C | CA6079635 | PYGM | c.2115A>G (p.Gly705=) c.1851A>G (p.Gly617=) | dbSNP ExAC gnomAD v2 |
| 11 | g.64750438T>G | CA474958653 | PYGM | c.2115A>C (p.Gly705=) c.1851A>C (p.Gly617=) | |
| 11 | g.64750438T= | CA1978913238 | PYGM | c.2115A= (p.Gly705=) c.1851A= (p.Gly617=) | |
| 11 | g.64750438_64750440delinsTCC | CA1978913244 | PYGM | c.2113_2115delinsGGA (p.Gly705=) c.1849_1851delinsGGA (p.Gly617=) | |
| 11 | g.64750439C>A | CA381167684 | PYGM | c.2114G>T (p.Gly705Val) c.1850G>T (p.Gly617Val) | gnomAD v4 |
| 11 | g.64750439C>G | CA381167679 | PYGM | c.2114G>C (p.Gly705Ala) c.1850G>C (p.Gly617Ala) | |
| 11 | g.64750439C>T | CA381167682 | PYGM | c.2114G>A (p.Gly705Glu) c.1850G>A (p.Gly617Glu) | COSMIC |
| 11 | g.64750440_64750441del | CA938864464 | PYGM | c.2113_2114del (p.Gly705ArgfsTer16) c.1849_1850del (p.Gly617ArgfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750440C>A | CA381167687 | PYGM | c.2113G>T (p.Gly705Ter) c.1849G>T (p.Gly617Ter) | |
| 11 | g.64750440C>G | CA381167689 | PYGM | c.2113G>C (p.Gly705Arg) c.1849G>C (p.Gly617Arg) | |
| 11 | g.64750440C>T | CA381167691 | PYGM | c.2113G>A (p.Gly705Arg) c.1849G>A (p.Gly617Arg) | COSMIC |
| 11 | g.64750441C>A | CA474958654 | PYGM | c.2112G>T (p.Ala704=) c.1848G>T (p.Ala616=) | dbSNP |
| 11 | g.64750441C= | CA1978913253 | PYGM | c.2112G= (p.Ala704=) c.1848G= (p.Ala616=) | |
| 11 | g.64750441C>G | CA474958655 | PYGM | c.2112G>C (p.Ala704=) c.1848G>C (p.Ala616=) | |
| 11 | g.64750441C>T | CA6079636 | PYGM | c.2112G>A (p.Ala704=) c.1848G>A (p.Ala616=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750442G>A | CA381167696 | PYGM | c.2111C>T (p.Ala704Val) c.1847C>T (p.Ala616Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750442G>C | CA381167698 | PYGM | c.2111C>G (p.Ala704Gly) c.1847C>G (p.Ala616Gly) | |
| 11 | g.64750442G= | CA1978913258 | PYGM | c.2111C= (p.Ala704=) c.1847C= (p.Ala616=) | |
| 11 | g.64750442G>T | CA381167700 | PYGM | c.2111C>A (p.Ala704Glu) c.1847C>A (p.Ala616Glu) | |
| 11 | g.64750443C>A | CA381167702 | PYGM | c.2110G>T (p.Ala704Ser) c.1846G>T (p.Ala616Ser) | |
| 11 | g.64750443C= | CA1978913267 | PYGM | c.2110G= (p.Ala704=) c.1846G= (p.Ala616=) | |
| 11 | g.64750443C>G | CA381167705 | PYGM | c.2110G>C (p.Ala704Pro) c.1846G>C (p.Ala616Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750443C>T | CA381167707 | PYGM | c.2110G>A (p.Ala704Thr) c.1846G>A (p.Ala616Thr) | |
| 11 | g.64750444C>A | CA381167711 | PYGM | c.2109G>T (p.Glu703Asp) c.1845G>T (p.Glu615Asp) | |
| 11 | g.64750444C= | CA1978913274 | PYGM | c.2109G= (p.Glu703=) c.1845G= (p.Glu615=) | |
| 11 | g.64750444C>G | CA381167713 | PYGM | c.2109G>C (p.Glu703Asp) c.1845G>C (p.Glu615Asp) | |
| 11 | g.64750444C>T | CA6079637 | PYGM | c.2109G>A (p.Glu703=) c.1845G>A (p.Glu615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750445T>A | CA381167715 | PYGM | c.2108A>T (p.Glu703Val) c.1844A>T (p.Glu615Val) | |
| 11 | g.64750445T>C | CA381167717 | PYGM | c.2108A>G (p.Glu703Gly) c.1844A>G (p.Glu615Gly) | |
| 11 | g.64750445T>G | CA381167719 | PYGM | c.2108A>C (p.Glu703Ala) c.1844A>C (p.Glu615Ala) | |
| 11 | g.64750446C>A | CA381167722 | PYGM | c.2107G>T (p.Glu703Ter) c.1843G>T (p.Glu615Ter) | |
| 11 | g.64750446C= | CA1978913278 | PYGM | c.2107G= (p.Glu703=) c.1843G= (p.Glu615=) | |
| 11 | g.64750446C>G | CA381167724 | PYGM | c.2107G>C (p.Glu703Gln) c.1843G>C (p.Glu615Gln) | |
| 11 | g.64750446C>T | CA223897759 | PYGM | c.2107G>A (p.Glu703Lys) c.1843G>A (p.Glu615Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750447T>A | CA381167728 | PYGM | c.2106A>T (p.Glu702Asp) c.1842A>T (p.Glu614Asp) | |
| 11 | g.64750447T>C | CA474958656 | PYGM | c.2106A>G (p.Glu702=) c.1842A>G (p.Glu614=) | |
| 11 | g.64750447T>G | CA381167730 | PYGM | c.2106A>C (p.Glu702Asp) c.1842A>C (p.Glu614Asp) | |
| 11 | g.64750448T>A | CA381167732 | PYGM | c.2105A>T (p.Glu702Val) c.1841A>T (p.Glu614Val) | |
| 11 | g.64750448T>C | CA381167735 | PYGM | c.2105A>G (p.Glu702Gly) c.1841A>G (p.Glu614Gly) | |
| 11 | g.64750448T>G | CA381167737 | PYGM | c.2105A>C (p.Glu702Ala) c.1841A>C (p.Glu614Ala) | |
| 11 | g.64750449C>A | CA381167741 | PYGM | c.2104G>T (p.Glu702Ter) c.1840G>T (p.Glu614Ter) | |
| 11 | g.64750449C= | CA1978913302 | PYGM | c.2104G= (p.Glu702=) c.1840G= (p.Glu614=) | |
| 11 | g.64750449C>G | CA6079639 | PYGM | c.2104G>C (p.Glu702Gln) c.1840G>C (p.Glu614Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750449C>T | CA6079638 | PYGM | c.2104G>A (p.Glu702Lys) c.1840G>A (p.Glu614Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750450T>A | CA474958657 | PYGM | c.2103A>T (p.Ala701=) c.1839A>T (p.Ala613=) | |
| 11 | g.64750450T>C | CA474958658 | PYGM | c.2103A>G (p.Ala701=) c.1839A>G (p.Ala613=) | |
| 11 | g.64750450T>G | CA474958659 | PYGM | c.2103A>C (p.Ala701=) c.1839A>C (p.Ala613=) | |
| 11 | g.64750451del | CA2614190712 | PYGM | c.2102del (p.Ala701GlufsTer?) c.1838del (p.Ala613GlufsTer?) | gnomAD v4 |
| 11 | g.64750451G>A | CA381167748 | PYGM | c.2102C>T (p.Ala701Val) c.1838C>T (p.Ala613Val) | gnomAD v4 |
| 11 | g.64750451G>C | CA381167751 | PYGM | c.2102C>G (p.Ala701Gly) c.1838C>G (p.Ala613Gly) | |
| 11 | g.64750451G>T | CA381167746 | PYGM | c.2102C>A (p.Ala701Glu) c.1838C>A (p.Ala613Glu) | |
| 11 | g.64750452C>A | CA381167754 | PYGM | c.2101G>T (p.Ala701Ser) c.1837G>T (p.Ala613Ser) | |
| 11 | g.64750452C>G | CA381167756 | PYGM | c.2101G>C (p.Ala701Pro) c.1837G>C (p.Ala613Pro) | |
| 11 | g.64750452C>T | CA381167758 | PYGM | c.2101G>A (p.Ala701Thr) c.1837G>A (p.Ala613Thr) | |
| 11 | g.64750453C>A | CA381167761 | PYGM | c.2100G>T (p.Met700Ile) c.1836G>T (p.Met612Ile) | |
| 11 | g.64750453C>G | CA381167763 | PYGM | c.2100G>C (p.Met700Ile) c.1836G>C (p.Met612Ile) | dbSNP |
| 11 | g.64750453C>T | CA381167765 | PYGM | c.2100G>A (p.Met700Ile) c.1836G>A (p.Met612Ile) | |
| 11 | g.64750454A>C | CA381167773 | PYGM | c.2099T>G (p.Met700Arg) c.1835T>G (p.Met612Arg) | |
| 11 | g.64750454A>G | CA381167768 | PYGM | c.2099T>C (p.Met700Thr) c.1835T>C (p.Met612Thr) | |
| 11 | g.64750454A>T | CA381167771 | PYGM | c.2099T>A (p.Met700Lys) c.1835T>A (p.Met612Lys) | |
| 11 | g.64750455T>A | CA381167776 | PYGM | c.2098A>T (p.Met700Leu) c.1834A>T (p.Met612Leu) | |
| 11 | g.64750455T>C | CA381167778 | PYGM | c.2098A>G (p.Met700Val) c.1834A>G (p.Met612Val) | gnomAD v4 |
| 11 | g.64750455T>G | CA381167780 | PYGM | c.2098A>C (p.Met700Leu) c.1834A>C (p.Met612Leu) | gnomAD v4 |
| 11 | g.64750456C>A | CA381167783 | PYGM | c.2097G>T (p.Glu699Asp) c.1833G>T (p.Glu611Asp) | |
| 11 | g.64750456C= | CA1978913314 | PYGM | c.2097G= (p.Glu699=) c.1833G= (p.Glu611=) | |
| 11 | g.64750456C>G | CA381167784 | PYGM | c.2097G>C (p.Glu699Asp) c.1833G>C (p.Glu611Asp) | |
| 11 | g.64750456C>T | CA474958660 | PYGM | c.2097G>A (p.Glu699=) c.1833G>A (p.Glu611=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64750457T>A | CA381167791 | PYGM | c.2096A>T (p.Glu699Val) c.1832A>T (p.Glu611Val) | |
| 11 | g.64750457T>C | CA381167787 | PYGM | c.2096A>G (p.Glu699Gly) c.1832A>G (p.Glu611Gly) | |
| 11 | g.64750457T>G | CA6079640 | PYGM | c.2096A>C (p.Glu699Ala) c.1832A>C (p.Glu611Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750457T= | CA1978913319 | PYGM | c.2096A= (p.Glu699=) c.1832A= (p.Glu611=) | |
| 11 | g.64750458C>A | CA381167794 | PYGM | c.2095G>T (p.Glu699Ter) c.1831G>T (p.Glu611Ter) | |
| 11 | g.64750458C>G | CA381167796 | PYGM | c.2095G>C (p.Glu699Gln) c.1831G>C (p.Glu611Gln) | |
| 11 | g.64750458C>T | CA381167798 | PYGM | c.2095G>A (p.Glu699Lys) c.1831G>A (p.Glu611Lys) | |
| 11 | g.64750459C>A | CA474958661 | PYGM | c.2094G>T (p.Val698=) c.1830G>T (p.Val610=) | |
| 11 | g.64750459C>G | CA474958662 | PYGM | c.2094G>C (p.Val698=) c.1830G>C (p.Val610=) | |
| 11 | g.64750459C>T | CA474958663 | PYGM | c.2094G>A (p.Val698=) c.1830G>A (p.Val610=) | ClinVar |
| 11 | g.64750460A>C | CA381167801 | PYGM | c.2093T>G (p.Val698Gly) c.1829T>G (p.Val610Gly) | |
| 11 | g.64750460A>G | CA381167802 | PYGM | c.2093T>C (p.Val698Ala) c.1829T>C (p.Val610Ala) | |
| 11 | g.64750460A>T | CA381167804 | PYGM | c.2093T>A (p.Val698Glu) c.1829T>A (p.Val610Glu) | |
| 11 | g.64750461C>A | CA381167810 | PYGM | c.2092G>T (p.Val698Leu) c.1828G>T (p.Val610Leu) | |
| 11 | g.64750461C= | CA1978913325 | PYGM | c.2092G= (p.Val698=) c.1828G= (p.Val610=) | |
| 11 | g.64750461C>G | CA381167807 | PYGM | c.2092G>C (p.Val698Leu) c.1828G>C (p.Val610Leu) | |
| 11 | g.64750461C>T | CA6079641 | PYGM | c.2092G>A (p.Val698Met) c.1828G>A (p.Val610Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750462A>C | CA381167813 | PYGM | c.2091T>G (p.Asn697Lys) c.1827T>G (p.Asn609Lys) | |
| 11 | g.64750462A>G | CA474958664 | PYGM | c.2091T>C (p.Asn697=) c.1827T>C (p.Asn609=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64750462A>T | CA381167815 | PYGM | c.2091T>A (p.Asn697Lys) c.1827T>A (p.Asn609Lys) | |
| 11 | g.64750463T>A | CA381167818 | PYGM | c.2090A>T (p.Asn697Ile) c.1826A>T (p.Asn609Ile) | |
| 11 | g.64750463T>C | CA381167820 | PYGM | c.2090A>G (p.Asn697Ser) c.1826A>G (p.Asn609Ser) | |
| 11 | g.64750463T>G | CA381167822 | PYGM | c.2090A>C (p.Asn697Thr) c.1826A>C (p.Asn609Thr) | |
| 11 | g.64750464T>A | CA381167824 | PYGM | c.2089A>T (p.Asn697Tyr) c.1825A>T (p.Asn609Tyr) | |
| 11 | g.64750464T>C | CA381167827 | PYGM | c.2089A>G (p.Asn697Asp) c.1825A>G (p.Asn609Asp) | |
| 11 | g.64750464T>G | CA381167825 | PYGM | c.2089A>C (p.Asn697His) c.1825A>C (p.Asn609His) | |
| 11 | g.64750465G>A | CA474958665 | PYGM | c.2088C>T (p.Ala696=) c.1824C>T (p.Ala608=) | ClinVar dbSNP |
| 11 | g.64750465G>C | CA474958666 | PYGM | c.2088C>G (p.Ala696=) c.1824C>G (p.Ala608=) | |
| 11 | g.64750465G= | CA1978913333 | PYGM | c.2088C= (p.Ala696=) c.1824C= (p.Ala608=) | |
| 11 | g.64750465G>T | CA474958667 | PYGM | c.2088C>A (p.Ala696=) c.1824C>A (p.Ala608=) | |
| 11 | g.64750466G>A | CA381167830 | PYGM | c.2087C>T (p.Ala696Val) c.1823C>T (p.Ala608Val) | gnomAD v4 |
| 11 | g.64750466G>C | CA381167832 | PYGM | c.2087C>G (p.Ala696Gly) c.1823C>G (p.Ala608Gly) | |
| 11 | g.64750466G>T | CA381167834 | PYGM | c.2087C>A (p.Ala696Asp) c.1823C>A (p.Ala608Asp) | |
| 11 | g.64750467C>A | CA381167837 | PYGM | c.2086G>T (p.Ala696Ser) c.1822G>T (p.Ala608Ser) | |
| 11 | g.64750467C>G | CA381167838 | PYGM | c.2086G>C (p.Ala696Pro) c.1822G>C (p.Ala608Pro) | gnomAD v4 |
| 11 | g.64750467C>T | CA381167840 | PYGM | c.2086G>A (p.Ala696Thr) c.1822G>A (p.Ala608Thr) | |
| 11 | g.64750470dup | CA2614190764 | PYGM | c.2086dup (p.Ala696GlyfsTer26) c.1822dup (p.Ala608GlyfsTer26) | ClinVar gnomAD v4 |
| 11 | g.64750468C>A | CA474958668 | PYGM | c.2085G>T (p.Gly695=) c.1821G>T (p.Gly607=) | ClinVar |
| 11 | g.64750468C= | CA1978913342 | PYGM | c.2085G= (p.Gly695=) c.1821G= (p.Gly607=) | |
| 11 | g.64750468C>G | CA474958669 | PYGM | c.2085G>C (p.Gly695=) c.1821G>C (p.Gly607=) | dbSNP gnomAD v4 |
| 11 | g.64750468C>T | CA6079642 | PYGM | c.2085G>A (p.Gly695=) c.1821G>A (p.Gly607=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64750469C>A | CA381167845 | PYGM | c.2084G>T (p.Gly695Val) c.1820G>T (p.Gly607Val) | |
| 11 | g.64750469C>G | CA381167847 | PYGM | c.2084G>C (p.Gly695Ala) c.1820G>C (p.Gly607Ala) | |
| 11 | g.64750469C>T | CA381167852 | PYGM | c.2084G>A (p.Gly695Glu) c.1820G>A (p.Gly607Glu) | gnomAD v4 |
| 11 | g.64750470C>A | CA381167853 | PYGM | c.2083G>T (p.Gly695Trp) c.1819G>T (p.Gly607Trp) | ClinVar gnomAD v4 |
| 11 | g.64750470C= | CA1978913357 | PYGM | c.2083G= (p.Gly695=) c.1819G= (p.Gly607=) | |
| 11 | g.64750470C>G | CA381167854 | PYGM | c.2083G>C (p.Gly695Arg) c.1819G>C (p.Gly607Arg) | |
| 11 | g.64750470C>T | CA6079643 | PYGM | c.2083G>A (p.Gly695Arg) c.1819G>A (p.Gly607Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64750471G>A | CA6079644 | PYGM | c.2082C>T (p.Asp694=) c.1818C>T (p.Asp606=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750471G>C | CA381167858 | PYGM | c.2082C>G (p.Asp694Glu) c.1818C>G (p.Asp606Glu) | |
| 11 | g.64750471G= | CA1978913368 | PYGM | c.2082C= (p.Asp694=) c.1818C= (p.Asp606=) | |
| 11 | g.64750471G>T | CA381167861 | PYGM | c.2082C>A (p.Asp694Glu) c.1818C>A (p.Asp606Glu) | ClinVar dbSNP |
| 11 | g.64750472T>A | CA381167865 | PYGM | c.2081A>T (p.Asp694Val) c.1817A>T (p.Asp606Val) | |
| 11 | g.64750472T>C | CA381167867 | PYGM | c.2081A>G (p.Asp694Gly) c.1817A>G (p.Asp606Gly) | dbSNP gnomAD v2 |
| 11 | g.64750472T>G | CA381167869 | PYGM | c.2081A>C (p.Asp694Ala) c.1817A>C (p.Asp606Ala) | |
| 11 | g.64750472T= | CA1978913371 | PYGM | c.2081A= (p.Asp694=) c.1817A= (p.Asp606=) | |
| 11 | g.64750473C>A | CA381167873 | PYGM | c.2080G>T (p.Asp694Tyr) c.1816G>T (p.Asp606Tyr) | |
| 11 | g.64750473C>G | CA381167875 | PYGM | c.2080G>C (p.Asp694His) c.1816G>C (p.Asp606His) | |
| 11 | g.64750473C>T | CA381167877 | PYGM | c.2080G>A (p.Asp694Asn) c.1816G>A (p.Asp606Asn) | gnomAD v4 |
| 11 | g.64750474C>A | CA381167880 | PYGM | c.2079G>T (p.Met693Ile) c.1815G>T (p.Met605Ile) | |
| 11 | g.64750474C>G | CA381167881 | PYGM | c.2079G>C (p.Met693Ile) c.1815G>C (p.Met605Ile) | |
| 11 | g.64750474C>T | CA381167882 | PYGM | c.2079G>A (p.Met693Ile) c.1815G>A (p.Met605Ile) | gnomAD v4 |
| 11 | g.64750475A= | CA1978913380 | PYGM | c.2078T= (p.Met693=) c.1814T= (p.Met605=) | |
| 11 | g.64750475A>C | CA381167884 | PYGM | c.2078T>G (p.Met693Arg) c.1814T>G (p.Met605Arg) | dbSNP |
| 11 | g.64750475A>G | CA6079645 | PYGM | c.2078T>C (p.Met693Thr) c.1814T>C (p.Met605Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750475A>T | CA381167888 | PYGM | c.2078T>A (p.Met693Lys) c.1814T>A (p.Met605Lys) | |
| 11 | g.64750476T>A | CA381167891 | PYGM | c.2077A>T (p.Met693Leu) c.1813A>T (p.Met605Leu) | dbSNP |
| 11 | g.64750476T>C | CA381167894 | PYGM | c.2077A>G (p.Met693Val) c.1813A>G (p.Met605Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750476T>G | CA381167892 | PYGM | c.2077A>C (p.Met693Leu) c.1813A>C (p.Met605Leu) | |
| 11 | g.64750476T= | CA1978913387 | PYGM | c.2077A= (p.Met693=) c.1813A= (p.Met605=) | |
| 11 | g.64750476dup | CA679270161 | PYGM | c.2077dup (p.Met693AsnfsTer29) c.1813dup (p.Met605AsnfsTer29) | dbSNP |
| 11 | g.64750476_64750478delinsTGG | CA1978913385 | PYGM | c.2075_2077delinsCCA (p.Thr692=) c.1811_1813delinsCCA (p.Thr604=) | |
| 11 | g.64750477G>A | CA474958672 | PYGM | c.2076C>T (p.Thr692=) c.1812C>T (p.Thr604=) | gnomAD v4 |
| 11 | g.64750477G>C | CA474958670 | PYGM | c.2076C>G (p.Thr692=) c.1812C>G (p.Thr604=) | |
| 11 | g.64750477G= | CA1978913399 | PYGM | c.2076C= (p.Thr692=) c.1812C= (p.Thr604=) | |
| 11 | g.64750477G>T | CA474958671 | PYGM | c.2076C>A (p.Thr692=) c.1812C>A (p.Thr604=) | ClinVar dbSNP |
| 11 | g.64750477_64750478del | CA915948168 | PYGM | c.2075_2076del (p.Thr692AsnfsTer29) c.1811_1812del (p.Thr604AsnfsTer29) | ClinVar dbSNP |
| 11 | g.64750477_64750478delinsTTT | CA2695214466 | PYGM | c.2075_2076delinsAAA (p.Thr692LysfsTer30) c.1811_1812delinsAAA (p.Thr604LysfsTer30) | |
| 11 | g.64750478G>A | CA381167897 | PYGM | c.2075C>T (p.Thr692Ile) c.1811C>T (p.Thr604Ile) | gnomAD v4 |
| 11 | g.64750478G>C | CA381167902 | PYGM | c.2075C>G (p.Thr692Ser) c.1811C>G (p.Thr604Ser) | gnomAD v4 |
| 11 | g.64750478G= | CA1978913404 | PYGM | c.2075C= (p.Thr692=) c.1811C= (p.Thr604=) | |
| 11 | g.64750478G>T | CA381167899 | PYGM | c.2075C>A (p.Thr692Asn) c.1811C>A (p.Thr604Asn) | dbSNP |
| 11 | g.64750479T>A | CA381167905 | PYGM | c.2074A>T (p.Thr692Ser) c.1810A>T (p.Thr604Ser) | COSMIC |
| 11 | g.64750479T>C | CA381167907 | PYGM | c.2074A>G (p.Thr692Ala) c.1810A>G (p.Thr604Ala) | |
| 11 | g.64750479T>G | CA381167908 | PYGM | c.2074A>C (p.Thr692Pro) c.1810A>C (p.Thr604Pro) | |
| 11 | g.64750480G>A | CA474958673 | PYGM | c.2073C>T (p.Gly691=) c.1809C>T (p.Gly603=) | |
| 11 | g.64750480G>C | CA474958674 | PYGM | c.2073C>G (p.Gly691=) c.1809C>G (p.Gly603=) | |
| 11 | g.64750480G>T | CA474958675 | PYGM | c.2073C>A (p.Gly691=) c.1809C>A (p.Gly603=) | |
| 11 | g.64750481C>A | CA381167911 | PYGM | c.2072G>T (p.Gly691Val) c.1808G>T (p.Gly603Val) | |
| 11 | g.64750481C>G | CA381167912 | PYGM | c.2072G>C (p.Gly691Ala) c.1808G>C (p.Gly603Ala) | |
| 11 | g.64750481C>T | CA381167915 | PYGM | c.2072G>A (p.Gly691Asp) c.1808G>A (p.Gly603Asp) | |
| 11 | g.64750482C>A | CA381167918 | PYGM | c.2071G>T (p.Gly691Cys) c.1807G>T (p.Gly603Cys) | |
| 11 | g.64750482C>G | CA381167920 | PYGM | c.2071G>C (p.Gly691Arg) c.1807G>C (p.Gly603Arg) | |
| 11 | g.64750482C>T | CA381167921 | PYGM | c.2071G>A (p.Gly691Ser) c.1807G>A (p.Gly603Ser) | |
| 11 | g.64750483A= | CA1978913408 | PYGM | c.2070T= (p.Ile690=) c.1806T= (p.Ile602=) | |
| 11 | g.64750483A>C | CA381167924 | PYGM | c.2070T>G (p.Ile690Met) c.1806T>G (p.Ile602Met) | |
| 11 | g.64750483A>G | CA6079646 | PYGM | c.2070T>C (p.Ile690=) c.1806T>C (p.Ile602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750483A>T | CA474958676 | PYGM | c.2070T>A (p.Ile690=) c.1806T>A (p.Ile602=) | |
| 11 | g.64750484A= | CA1978913418 | PYGM | c.2069T= (p.Ile690=) c.1805T= (p.Ile602=) | |
| 11 | g.64750484A>C | CA381167932 | PYGM | c.2069T>G (p.Ile690Ser) c.1805T>G (p.Ile602Ser) | |
| 11 | g.64750484A>G | CA223897803 | PYGM | c.2069T>C (p.Ile690Thr) c.1805T>C (p.Ile602Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750484A>T | CA381167929 | PYGM | c.2069T>A (p.Ile690Asn) c.1805T>A (p.Ile602Asn) | |
| 11 | g.64750485T>A | CA381167935 | PYGM | c.2068A>T (p.Ile690Phe) c.1804A>T (p.Ile602Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750485T>C | CA381167937 | PYGM | c.2068A>G (p.Ile690Val) c.1804A>G (p.Ile602Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64750485T>G | CA381167939 | PYGM | c.2068A>C (p.Ile690Leu) c.1804A>C (p.Ile602Leu) | |
| 11 | g.64750485T= | CA1978913424 | PYGM | c.2068A= (p.Ile690=) c.1804A= (p.Ile602=) | |
| 11 | g.64750486G>A | CA474958677 | PYGM | c.2067C>T (p.Thr689=) c.1803C>T (p.Thr601=) | |
| 11 | g.64750486G>C | CA223897813 | PYGM | c.2067C>G (p.Thr689=) c.1803C>G (p.Thr601=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750486G= | CA1978913428 | PYGM | c.2067C= (p.Thr689=) c.1803C= (p.Thr601=) | |
| 11 | g.64750486G>T | CA474958678 | PYGM | c.2067C>A (p.Thr689=) c.1803C>A (p.Thr601=) | |
| 11 | g.64750487G>A | CA381167943 | PYGM | c.2066C>T (p.Thr689Ile) c.1802C>T (p.Thr601Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64750487G>C | CA381167945 | PYGM | c.2066C>G (p.Thr689Ser) c.1802C>G (p.Thr601Ser) | |
| 11 | g.64750487G= | CA1978913435 | PYGM | c.2066C= (p.Thr689=) c.1802C= (p.Thr601=) | |
| 11 | g.64750487G>T | CA381167947 | PYGM | c.2066C>A (p.Thr689Asn) c.1802C>A (p.Thr601Asn) | |
| 11 | g.64750488T>A | CA381167949 | PYGM | c.2065A>T (p.Thr689Ser) c.1801A>T (p.Thr601Ser) | |
| 11 | g.64750488T>C | CA381167951 | PYGM | c.2065A>G (p.Thr689Ala) c.1801A>G (p.Thr601Ala) | gnomAD v4 |
| 11 | g.64750488T>G | CA381167953 | PYGM | c.2065A>C (p.Thr689Pro) c.1801A>C (p.Thr601Pro) | gnomAD v4 |
| 11 | g.64750489C>A | CA474958679 | PYGM | c.2064G>T (p.Leu688=) c.1800G>T (p.Leu600=) | |
| 11 | g.64750489C>G | CA474958681 | PYGM | c.2064G>C (p.Leu688=) c.1800G>C (p.Leu600=) | |
| 11 | g.64750489C>T | CA474958680 | PYGM | c.2064G>A (p.Leu688=) c.1800G>A (p.Leu600=) | ClinVar |
| 11 | g.64750490A>C | CA381167955 | PYGM | c.2063T>G (p.Leu688Arg) c.1799T>G (p.Leu600Arg) | |
| 11 | g.64750490A>G | CA381167957 | PYGM | c.2063T>C (p.Leu688Pro) c.1799T>C (p.Leu600Pro) | |
| 11 | g.64750490A>T | CA381167959 | PYGM | c.2063T>A (p.Leu688Gln) c.1799T>A (p.Leu600Gln) | |
| 11 | g.64750491G>A | CA474958682 | PYGM | c.2062C>T (p.Leu688=) c.1798C>T (p.Leu600=) | |
| 11 | g.64750491G>C | CA381167961 | PYGM | c.2062C>G (p.Leu688Val) c.1798C>G (p.Leu600Val) | |
| 11 | g.64750491G>T | CA381167960 | PYGM | c.2062C>A (p.Leu688Met) c.1798C>A (p.Leu600Met) | |
| 11 | g.64750492A= | CA1978913439 | PYGM | c.2061T= (p.Ala687=) c.1797T= (p.Ala599=) | |
| 11 | g.64750492A>C | CA474958683 | PYGM | c.2061T>G (p.Ala687=) c.1797T>G (p.Ala599=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750492A>G | CA474958684 | PYGM | c.2061T>C (p.Ala687=) c.1797T>C (p.Ala599=) | |
| 11 | g.64750492A>T | CA474958685 | PYGM | c.2061T>A (p.Ala687=) c.1797T>A (p.Ala599=) | |
| 11 | g.64750493G>A | CA381167962 | PYGM | c.2060C>T (p.Ala687Val) c.1796C>T (p.Ala599Val) | dbSNP |
| 11 | g.64750493G>C | CA381167963 | PYGM | c.2060C>G (p.Ala687Gly) c.1796C>G (p.Ala599Gly) | |
| 11 | g.64750493G>T | CA381167964 | PYGM | c.2060C>A (p.Ala687Asp) c.1796C>A (p.Ala599Asp) | |
| 11 | g.64750494C>A | CA381167965 | PYGM | c.2059G>T (p.Ala687Ser) c.1795G>T (p.Ala599Ser) | |
| 11 | g.64750494C>G | CA381167966 | PYGM | c.2059G>C (p.Ala687Pro) c.1795G>C (p.Ala599Pro) | |
| 11 | g.64750494C>T | CA381167967 | PYGM | c.2059G>A (p.Ala687Thr) c.1795G>A (p.Ala599Thr) | gnomAD v4 |