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.64758594dup | CA2614191124 | PYGM | c.345+12dup (n.345+12dup) c.244-325dup (n.244-325dup) | gnomAD v4 |
| 11 | g.64758594C= | CA1978928505 | PYGM | c.345+9G= (n.345+9G=) c.244-328G= (n.244-328G=) | |
| 11 | g.64758594C>G | CA599653891 | PYGM | c.345+9G>C (n.345+9G>C) c.244-328G>C (n.244-328G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758594C>T | CA2573147415 | PYGM | c.345+9G>A (n.345+9G>A) c.244-328G>A (n.244-328G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758601_64758602del | CA2614191132 | PYGM | c.345+8_345+9del (n.345+8_345+9del) c.244-329_244-328del (n.244-329_244-328del) | ClinVar gnomAD v4 |
| 11 | g.64758595A= | CA1978928506 | PYGM | c.345+8T= (n.345+8T=) c.244-329T= (n.244-329T=) | |
| 11 | g.64758595A>C | CA6080305 | PYGM | c.345+8T>G (n.345+8T>G) c.244-329T>G (n.244-329T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758596C= | CA1978928507 | PYGM | c.345+7G= (n.345+7G=) c.244-330G= (n.244-330G=) | |
| 11 | g.64758596C>G | CA2614191135 | PYGM | c.345+7G>C (n.345+7G>C) c.244-330G>C (n.244-330G>C) | gnomAD v4 |
| 11 | g.64758596C>T | CA1978928508 | PYGM | c.345+7G>A (n.345+7G>A) c.244-330G>A (n.244-330G>A) | ClinVar dbSNP |
| 11 | g.64758598C= | CA1978928509 | PYGM | c.345+5G= (n.345+5G=) c.244-332G= (n.244-332G=) | |
| 11 | g.64758599dup | CA599653892 | PYGM | c.345+4dup (n.345+4dup) c.244-333dup (n.244-333dup) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758600C= | CA1978928510 | PYGM | c.345+3G= (n.345+3G=) c.244-334G= (n.244-334G=) | |
| 11 | g.64758600C>T | CA599653893 | PYGM | c.345+3G>A (n.345+3G>A) c.244-334G>A (n.244-334G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758601A= | CA1978928511 | PYGM | c.345+2T= (n.345+2T=) c.244-335T= (n.244-335T=) | |
| 11 | g.64758601A>C | CA381110842 | PYGM | c.345+2T>G (n.345+2T>G) c.244-335T>G (n.244-335T>G) | |
| 11 | g.64758601A>G | CA381110845 | PYGM | c.345+2T>C (n.345+2T>C) c.244-335T>C (n.244-335T>C) | |
| 11 | g.64758601A>T | CA381110856 | PYGM | c.345+2T>A (n.345+2T>A) c.244-335T>A (n.244-335T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758602C>A | CA381110860 | PYGM | c.345+1G>T (n.345+1G>T) c.244-336G>T (n.244-336G>T) | |
| 11 | g.64758602C>G | CA381110862 | PYGM | c.345+1G>C (n.345+1G>C) c.244-336G>C (n.244-336G>C) | |
| 11 | g.64758602C>T | CA381110871 | PYGM | c.345+1G>A (n.345+1G>A) c.244-336G>A (n.244-336G>A) | |
| 11 | g.64758603C>A | CA381110882 | PYGM | c.345G>T (p.Gln115His) c.244-337G>T (n.244-337G>T) | |
| 11 | g.64758603C>G | CA381110884 | PYGM | c.345G>C (p.Gln115His) c.244-337G>C (n.244-337G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758603C>T | CA474960925 | PYGM | c.345G>A (p.Gln115=) c.244-337G>A (n.244-337G>A) | |
| 11 | g.64758604T>A | CA223888502 | PYGM | c.344A>T (p.Gln115Leu) c.244-338A>T (n.244-338A>T) | dbSNP |
| 11 | g.64758604T>C | CA381110890 | PYGM | c.344A>G (p.Gln115Arg) c.244-338A>G (n.244-338A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758604T>G | CA381110889 | PYGM | c.344A>C (p.Gln115Pro) c.244-338A>C (n.244-338A>C) | |
| 11 | g.64758604T= | CA1978928512 | PYGM | c.344A= (p.Gln115=) c.244-338A= (n.244-338A=) | |
| 11 | g.64758605G>A | CA381110891 | PYGM | c.343C>T (p.Gln115Ter) c.244-339C>T (n.244-339C>T) | |
| 11 | g.64758605G>C | CA381110893 | PYGM | c.343C>G (p.Gln115Glu) c.244-339C>G (n.244-339C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758605G= | CA1978928513 | PYGM | c.343C= (p.Gln115=) c.244-339C= (n.244-339C=) | |
| 11 | g.64758605G>T | CA381110896 | PYGM | c.343C>A (p.Gln115Lys) c.244-339C>A (n.244-339C>A) | gnomAD v4 |
| 11 | g.64758606G>A | CA474960936 | PYGM | c.342C>T (p.Tyr114=) c.244-340C>T (n.244-340C>T) | gnomAD v4 |
| 11 | g.64758606G>C | CA381110898 | PYGM | c.342C>G (p.Tyr114Ter) c.244-340C>G (n.244-340C>G) | |
| 11 | g.64758606G>T | CA381110900 | PYGM | c.342C>A (p.Tyr114Ter) c.244-340C>A (n.244-340C>A) | |
| 11 | g.64758606_64758607delinsGT | CA1978928514 | PYGM | c.341_342delinsAC (p.Tyr114=) c.244-341_244-340delinsAC (n.244-341_244-340delinsAC) | |
| 11 | g.64758607del | CA679276888 | PYGM | c.341del (p.Tyr114SerfsTer?) c.244-341del (n.244-341del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64758607T>A | CA381110907 | PYGM | c.341A>T (p.Tyr114Phe) c.244-341A>T (n.244-341A>T) | |
| 11 | g.64758607T>C | CA381110906 | PYGM | c.341A>G (p.Tyr114Cys) c.244-341A>G (n.244-341A>G) | |
| 11 | g.64758607T>G | CA381110905 | PYGM | c.341A>C (p.Tyr114Ser) c.244-341A>C (n.244-341A>C) | |
| 11 | g.64758608A>C | CA381110910 | PYGM | c.340T>G (p.Tyr114Asp) c.244-342T>G (n.244-342T>G) | |
| 11 | g.64758608A>G | CA381110917 | PYGM | c.340T>C (p.Tyr114His) c.244-342T>C (n.244-342T>C) | |
| 11 | g.64758608A>T | CA381110920 | PYGM | c.340T>A (p.Tyr114Asn) c.244-342T>A (n.244-342T>A) | |
| 11 | g.64758609G>A | CA474960945 | PYGM | c.339C>T (p.Thr113=) c.244-343C>T (n.244-343C>T) | |
| 11 | g.64758609G>C | CA474960950 | PYGM | c.339C>G (p.Thr113=) c.244-343C>G (n.244-343C>G) | |
| 11 | g.64758609G>T | CA474960947 | PYGM | c.339C>A (p.Thr113=) c.244-343C>A (n.244-343C>A) | |
| 11 | g.64758610G>A | CA6080306 | PYGM | c.338C>T (p.Thr113Ile) c.244-344C>T (n.244-344C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758610G>C | CA381110931 | PYGM | c.338C>G (p.Thr113Ser) c.244-344C>G (n.244-344C>G) | gnomAD v4 |
| 11 | g.64758610G= | CA1978928515 | PYGM | c.338C= (p.Thr113=) c.244-344C= (n.244-344C=) | |
| 11 | g.64758610G>T | CA381110934 | PYGM | c.338C>A (p.Thr113Asn) c.244-344C>A (n.244-344C>A) | |
| 11 | g.64758611T>A | CA381110944 | PYGM | c.337A>T (p.Thr113Ser) c.244-345A>T (n.244-345A>T) | |
| 11 | g.64758611T>C | CA381110938 | PYGM | c.337A>G (p.Thr113Ala) c.244-345A>G (n.244-345A>G) | |
| 11 | g.64758611T>G | CA381110941 | PYGM | c.337A>C (p.Thr113Pro) c.244-345A>C (n.244-345A>C) | dbSNP |
| 11 | g.64758611T= | CA1978928516 | PYGM | c.337A= (p.Thr113=) c.244-345A= (n.244-345A=) | |
| 11 | g.64758612G>A | CA474960958 | PYGM | c.336C>T (p.Ala112=) c.244-346C>T (n.244-346C>T) | gnomAD v4 |
| 11 | g.64758612G>C | CA474960959 | PYGM | c.336C>G (p.Ala112=) c.244-346C>G (n.244-346C>G) | |
| 11 | g.64758612G>T | CA474960962 | PYGM | c.336C>A (p.Ala112=) c.244-346C>A (n.244-346C>A) | |
| 11 | g.64758613del | CA2574864937 | PYGM | c.336del (p.Thr113ProfsTer?) c.244-346del (n.244-346del) | |
| 11 | g.64758613G>A | CA381110948 | PYGM | c.335C>T (p.Ala112Val) c.244-347C>T (n.244-347C>T) | gnomAD v4 |
| 11 | g.64758613G>C | CA381110951 | PYGM | c.335C>G (p.Ala112Gly) c.244-347C>G (n.244-347C>G) | |
| 11 | g.64758613G= | CA1978928517 | PYGM | c.335C= (p.Ala112=) c.244-347C= (n.244-347C=) | |
| 11 | g.64758613G>T | CA381110953 | PYGM | c.335C>A (p.Ala112Asp) c.244-347C>A (n.244-347C>A) | dbSNP |
| 11 | g.64758614C>A | CA381110959 | PYGM | c.334G>T (p.Ala112Ser) c.244-348G>T (n.244-348G>T) | |
| 11 | g.64758614C>G | CA381110961 | PYGM | c.334G>C (p.Ala112Pro) c.244-348G>C (n.244-348G>C) | |
| 11 | g.64758614C>T | CA381110965 | PYGM | c.334G>A (p.Ala112Thr) c.244-348G>A (n.244-348G>A) | COSMIC |
| 11 | g.64758614_64758625delinsCCTCGTCACAGG | CA1978928518 | PYGM | c.323_334delinsCCTGTGACGAGG (p.Ala108=) c.244-359_244-348delinsCCTGTGACGAGG (n.244-359_244-348delinsCCTGTGACGAGG) | |
| 11 | g.64758615C>A | CA381110967 | PYGM | c.333G>T (p.Glu111Asp) c.244-349G>T (n.244-349G>T) | |
| 11 | g.64758615C= | CA1978928519 | PYGM | c.333G= (p.Glu111=) c.244-349G= (n.244-349G=) | |
| 11 | g.64758615C>G | CA381110969 | PYGM | c.333G>C (p.Glu111Asp) c.244-349G>C (n.244-349G>C) | |
| 11 | g.64758615C>T | CA6080307 | PYGM | c.333G>A (p.Glu111=) c.244-349G>A (n.244-349G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758616_64758626del | CA938841222 | PYGM | c.323_333del (p.Ala108GlyfsTer16) c.244-359_244-349del (n.244-359_244-349del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64758616T>A | CA381110976 | PYGM | c.332A>T (p.Glu111Val) c.244-350A>T (n.244-350A>T) | |
| 11 | g.64758616T>C | CA381110980 | PYGM | c.332A>G (p.Glu111Gly) c.244-350A>G (n.244-350A>G) | |
| 11 | g.64758616T>G | CA381110982 | PYGM | c.332A>C (p.Glu111Ala) c.244-350A>C (n.244-350A>C) | |
| 11 | g.64758617C>A | CA381110987 | PYGM | c.331G>T (p.Glu111Ter) c.244-351G>T (n.244-351G>T) | ClinVar dbSNP |
| 11 | g.64758617C= | CA1978928520 | PYGM | c.331G= (p.Glu111=) c.244-351G= (n.244-351G=) | |
| 11 | g.64758617C>G | CA381110991 | PYGM | c.331G>C (p.Glu111Gln) c.244-351G>C (n.244-351G>C) | |
| 11 | g.64758617C>T | CA6080308 | PYGM | c.331G>A (p.Glu111Lys) c.244-351G>A (n.244-351G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758617_64758618del | CA2574864938 | PYGM | c.330_331del (p.Asp110GlufsTer17) c.244-352_244-351del (n.244-352_244-351del) | |
| 11 | g.64758618G>A | CA6080309 | PYGM | c.330C>T (p.Asp110=) c.244-352C>T (n.244-352C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758618G>C | CA381110997 | PYGM | c.330C>G (p.Asp110Glu) c.244-352C>G (n.244-352C>G) | |
| 11 | g.64758618G= | CA1978928521 | PYGM | c.330C= (p.Asp110=) c.244-352C= (n.244-352C=) | |
| 11 | g.64758618G>T | CA381111001 | PYGM | c.330C>A (p.Asp110Glu) c.244-352C>A (n.244-352C>A) | |
| 11 | g.64758619T>A | CA381111004 | PYGM | c.329A>T (p.Asp110Val) c.244-353A>T (n.244-353A>T) | |
| 11 | g.64758619T>C | CA381111005 | PYGM | c.329A>G (p.Asp110Gly) c.244-353A>G (n.244-353A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758619T>G | CA381111007 | PYGM | c.329A>C (p.Asp110Ala) c.244-353A>C (n.244-353A>C) | |
| 11 | g.64758619T= | CA1978928522 | PYGM | c.329A= (p.Asp110=) c.244-353A= (n.244-353A=) | |
| 11 | g.64758620C>A | CA381111011 | PYGM | c.328G>T (p.Asp110Tyr) c.244-354G>T (n.244-354G>T) | |
| 11 | g.64758620C>G | CA381111013 | PYGM | c.328G>C (p.Asp110His) c.244-354G>C (n.244-354G>C) | |
| 11 | g.64758620C>T | CA381111016 | PYGM | c.328G>A (p.Asp110Asn) c.244-354G>A (n.244-354G>A) | |
| 11 | g.64758621A= | CA1978928524 | PYGM | c.327T= (p.Cys109=) c.244-355T= (n.244-355T=) | |
| 11 | g.64758621A>C | CA381111024 | PYGM | c.327T>G (p.Cys109Trp) c.244-355T>G (n.244-355T>G) | |
| 11 | g.64758621A>G | CA474960988 | PYGM | c.327T>C (p.Cys109=) c.244-355T>C (n.244-355T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758621A>T | CA381111025 | PYGM | c.327T>A (p.Cys109Ter) c.244-355T>A (n.244-355T>A) | |
| 11 | g.64758622C>A | CA381111034 | PYGM | c.326G>T (p.Cys109Phe) c.244-356G>T (n.244-356G>T) | |
| 11 | g.64758622C>G | CA381111030 | PYGM | c.326G>C (p.Cys109Ser) c.244-356G>C (n.244-356G>C) | |
| 11 | g.64758622C>T | CA381111027 | PYGM | c.326G>A (p.Cys109Tyr) c.244-356G>A (n.244-356G>A) | |
| 11 | g.64758623A>C | CA381111038 | PYGM | c.325T>G (p.Cys109Gly) c.244-357T>G (n.244-357T>G) | |
| 11 | g.64758623A>G | CA381111040 | PYGM | c.325T>C (p.Cys109Arg) c.244-357T>C (n.244-357T>C) | |
| 11 | g.64758623A>T | CA381111043 | PYGM | c.325T>A (p.Cys109Ser) c.244-357T>A (n.244-357T>A) | |
| 11 | g.64758624G>A | CA474961001 | PYGM | c.324C>T (p.Ala108=) c.244-358C>T (n.244-358C>T) | ClinVar dbSNP |
| 11 | g.64758624G>C | CA474960998 | PYGM | c.324C>G (p.Ala108=) c.244-358C>G (n.244-358C>G) | |
| 11 | g.64758624G>T | CA474960996 | PYGM | c.324C>A (p.Ala108=) c.244-358C>A (n.244-358C>A) | |
| 11 | g.64758625G>A | CA381111046 | PYGM | c.323C>T (p.Ala108Val) c.244-359C>T (n.244-359C>T) | gnomAD v4 |
| 11 | g.64758625G>C | CA381111048 | PYGM | c.323C>G (p.Ala108Gly) c.244-359C>G (n.244-359C>G) | |
| 11 | g.64758625G>T | CA381111051 | PYGM | c.323C>A (p.Ala108Asp) c.244-359C>A (n.244-359C>A) | |
| 11 | g.64758626C>A | CA381111056 | PYGM | c.322G>T (p.Ala108Ser) c.244-360G>T (n.244-360G>T) | |
| 11 | g.64758626C>G | CA381111059 | PYGM | c.322G>C (p.Ala108Pro) c.244-360G>C (n.244-360G>C) | |
| 11 | g.64758626C>T | CA381111063 | PYGM | c.322G>A (p.Ala108Thr) c.244-360G>A (n.244-360G>A) | |
| 11 | g.64758627A= | CA1978928526 | PYGM | c.321T= (p.Asn107=) c.244-361T= (n.244-361T=) | |
| 11 | g.64758627A>C | CA381111065 | PYGM | c.321T>G (p.Asn107Lys) c.244-361T>G (n.244-361T>G) | |
| 11 | g.64758627A>G | CA6080310 | PYGM | c.321T>C (p.Asn107=) c.244-361T>C (n.244-361T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758627A>T | CA381111070 | PYGM | c.321T>A (p.Asn107Lys) c.244-361T>A (n.244-361T>A) | |
| 11 | g.64758628T>A | CA381111081 | PYGM | c.320A>T (p.Asn107Ile) c.244-362A>T (n.244-362A>T) | |
| 11 | g.64758628T>C | CA381111075 | PYGM | c.320A>G (p.Asn107Ser) c.244-362A>G (n.244-362A>G) | |
| 11 | g.64758628T>G | CA381111073 | PYGM | c.320A>C (p.Asn107Thr) c.244-362A>C (n.244-362A>C) | |
| 11 | g.64758629T>A | CA381111084 | PYGM | c.319A>T (p.Asn107Tyr) c.244-363A>T (n.244-363A>T) | |
| 11 | g.64758629T>C | CA381111088 | PYGM | c.319A>G (p.Asn107Asp) c.244-363A>G (n.244-363A>G) | |
| 11 | g.64758629T>G | CA381111085 | PYGM | c.319A>C (p.Asn107His) c.244-363A>C (n.244-363A>C) | |
| 11 | g.64758630C>A | CA381111091 | PYGM | c.318G>T (p.Glu106Asp) c.244-364G>T (n.244-364G>T) | |
| 11 | g.64758630C>G | CA381111093 | PYGM | c.318G>C (p.Glu106Asp) c.244-364G>C (n.244-364G>C) | |
| 11 | g.64758630C>T | CA474961019 | PYGM | c.318G>A (p.Glu106=) c.244-364G>A (n.244-364G>A) | |
| 11 | g.64758631T>A | CA381111097 | PYGM | c.317A>T (p.Glu106Val) c.244-365A>T (n.244-365A>T) | |
| 11 | g.64758631T>C | CA381111102 | PYGM | c.317A>G (p.Glu106Gly) c.244-365A>G (n.244-365A>G) | gnomAD v4 |
| 11 | g.64758631T>G | CA381111101 | PYGM | c.317A>C (p.Glu106Ala) c.244-365A>C (n.244-365A>C) | |
| 11 | g.64758632C>A | CA381111107 | PYGM | c.316G>T (p.Glu106Ter) c.244-366G>T (n.244-366G>T) | |
| 11 | g.64758632C= | CA1978928528 | PYGM | c.316G= (p.Glu106=) c.244-366G= (n.244-366G=) | |
| 11 | g.64758632C>G | CA223888541 | PYGM | c.316G>C (p.Glu106Gln) c.244-366G>C (n.244-366G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758632C>T | CA381111114 | PYGM | c.316G>A (p.Glu106Lys) c.244-366G>A (n.244-366G>A) | gnomAD v4 |
| 11 | g.64758633T>A | CA381111117 | PYGM | c.315A>T (p.Leu105Phe) c.244-367A>T (n.244-367A>T) | |
| 11 | g.64758633T>C | CA474961029 | PYGM | c.315A>G (p.Leu105=) c.244-367A>G (n.244-367A>G) | dbSNP |
| 11 | g.64758633T>G | CA381111119 | PYGM | c.315A>C (p.Leu105Phe) c.244-367A>C (n.244-367A>C) | |
| 11 | g.64758633T= | CA1978928529 | PYGM | c.315A= (p.Leu105=) c.244-367A= (n.244-367A=) | |
| 11 | g.64758634A>C | CA381111122 | PYGM | c.314T>G (p.Leu105Ter) c.244-368T>G (n.244-368T>G) | |
| 11 | g.64758634A>G | CA381111125 | PYGM | c.314T>C (p.Leu105Ser) c.244-368T>C (n.244-368T>C) | |
| 11 | g.64758634A>T | CA381111128 | PYGM | c.314T>A (p.Leu105Ter) c.244-368T>A (n.244-368T>A) | |
| 11 | g.64758635del | CA2614191196 | PYGM | c.314del (p.Leu105Ter) c.244-368del (n.244-368del) | gnomAD v4 |
| 11 | g.64758635A>C | CA381111131 | PYGM | c.313T>G (p.Leu105Val) c.244-369T>G (n.244-369T>G) | |
| 11 | g.64758635A>G | CA474961036 | PYGM | c.313T>C (p.Leu105=) c.244-369T>C (n.244-369T>C) | dbSNP |
| 11 | g.64758635A>T | CA381111132 | PYGM | c.313T>A (p.Leu105Ile) c.244-369T>A (n.244-369T>A) | |
| 11 | g.64758636G>A | CA474961038 | PYGM | c.312C>T (p.Ala104=) c.244-370C>T (n.244-370C>T) | |
| 11 | g.64758636G>C | CA474961040 | PYGM | c.312C>G (p.Ala104=) c.244-370C>G (n.244-370C>G) | dbSNP |
| 11 | g.64758636G>T | CA474961042 | PYGM | c.312C>A (p.Ala104=) c.244-370C>A (n.244-370C>A) | |
| 11 | g.64758637G>A | CA381111142 | PYGM | c.311C>T (p.Ala104Val) c.244-371C>T (n.244-371C>T) | |
| 11 | g.64758637G>C | CA381111137 | PYGM | c.311C>G (p.Ala104Gly) c.244-371C>G (n.244-371C>G) | |
| 11 | g.64758637G>T | CA381111139 | PYGM | c.311C>A (p.Ala104Asp) c.244-371C>A (n.244-371C>A) | gnomAD v4 |
| 11 | g.64758638C>A | CA223888544 | PYGM | c.310G>T (p.Ala104Ser) c.244-372G>T (n.244-372G>T) | dbSNP |
| 11 | g.64758638C= | CA1978928531 | PYGM | c.310G= (p.Ala104=) c.244-372G= (n.244-372G=) | |
| 11 | g.64758638C>G | CA381111147 | PYGM | c.310G>C (p.Ala104Pro) c.244-372G>C (n.244-372G>C) | |
| 11 | g.64758638C>T | CA381111149 | PYGM | c.310G>A (p.Ala104Thr) c.244-372G>A (n.244-372G>A) | |
| 11 | g.64758639C>A | CA474961046 | PYGM | c.309G>T (p.Leu103=) c.244-373G>T (n.244-373G>T) | |
| 11 | g.64758639C>G | CA474961048 | PYGM | c.309G>C (p.Leu103=) c.244-373G>C (n.244-373G>C) | |
| 11 | g.64758639C>T | CA474961050 | PYGM | c.309G>A (p.Leu103=) c.244-373G>A (n.244-373G>A) | |
| 11 | g.64758640A= | CA1978928533 | PYGM | c.308T= (p.Leu103=) c.244-374T= (n.244-374T=) | |
| 11 | g.64758640A>C | CA381111151 | PYGM | c.308T>G (p.Leu103Arg) c.244-374T>G (n.244-374T>G) | |
| 11 | g.64758640A>G | CA381111154 | PYGM | c.308T>C (p.Leu103Pro) c.244-374T>C (n.244-374T>C) | |
| 11 | g.64758640A>T | CA381111162 | PYGM | c.308T>A (p.Leu103Gln) c.244-374T>A (n.244-374T>A) | dbSNP |
| 11 | g.64758641G>A | CA474961055 | PYGM | c.307C>T (p.Leu103=) c.244-375C>T (n.244-375C>T) | |
| 11 | g.64758641G>C | CA381111163 | PYGM | c.307C>G (p.Leu103Val) c.244-375C>G (n.244-375C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64758641G>T | CA381111164 | PYGM | c.307C>A (p.Leu103Met) c.244-375C>A (n.244-375C>A) | |
| 11 | g.64758642G>A | CA474961064 | PYGM | c.306C>T (p.Asn102=) c.244-376C>T (n.244-376C>T) | ClinVar dbSNP |
| 11 | g.64758642G>C | CA381111165 | PYGM | c.306C>G (p.Asn102Lys) c.244-376C>G (n.244-376C>G) | |
| 11 | g.64758642G>T | CA381111166 | PYGM | c.306C>A (p.Asn102Lys) c.244-376C>A (n.244-376C>A) | |
| 11 | g.64758643T>A | CA381111170 | PYGM | c.305A>T (p.Asn102Ile) c.244-377A>T (n.244-377A>T) | |
| 11 | g.64758643T>C | CA381111171 | PYGM | c.305A>G (p.Asn102Ser) c.244-377A>G (n.244-377A>G) | |
| 11 | g.64758643T>G | CA381111168 | PYGM | c.305A>C (p.Asn102Thr) c.244-377A>C (n.244-377A>C) | |
| 11 | g.64758644del | CA2614191202 | PYGM | c.305del (p.Asn102ThrfsTer4) c.244-377del (n.244-377del) | gnomAD v4 |
| 11 | g.64758644T>A | CA381111172 | PYGM | c.304A>T (p.Asn102Tyr) c.244-378A>T (n.244-378A>T) | |
| 11 | g.64758644T>C | CA381111173 | PYGM | c.304A>G (p.Asn102Asp) c.244-378A>G (n.244-378A>G) | |
| 11 | g.64758644T>G | CA381111174 | PYGM | c.304A>C (p.Asn102His) c.244-378A>C (n.244-378A>C) | |
| 11 | g.64758645C>A | CA474961076 | PYGM | c.303G>T (p.Val101=) c.244-379G>T (n.244-379G>T) | |
| 11 | g.64758645C= | CA1978928535 | PYGM | c.303G= (p.Val101=) c.244-379G= (n.244-379G=) | |
| 11 | g.64758645C>G | CA474961078 | PYGM | c.303G>C (p.Val101=) c.244-379G>C (n.244-379G>C) | |
| 11 | g.64758645C>T | CA223888551 | PYGM | c.303G>A (p.Val101=) c.244-379G>A (n.244-379G>A) | dbSNP |
| 11 | g.64758646A>C | CA381111188 | PYGM | c.302T>G (p.Val101Gly) c.244-380T>G (n.244-380T>G) | |
| 11 | g.64758646A>G | CA381111184 | PYGM | c.302T>C (p.Val101Ala) c.244-380T>C (n.244-380T>C) | |
| 11 | g.64758646A>T | CA381111182 | PYGM | c.302T>A (p.Val101Glu) c.244-380T>A (n.244-380T>A) | |
| 11 | g.64758647C>A | CA381111189 | PYGM | c.301G>T (p.Val101Leu) c.244-381G>T (n.244-381G>T) | |
| 11 | g.64758647C>G | CA381111199 | PYGM | c.301G>C (p.Val101Leu) c.244-381G>C (n.244-381G>C) | |
| 11 | g.64758647C>T | CA381111203 | PYGM | c.301G>A (p.Val101Met) c.244-381G>A (n.244-381G>A) | |
| 11 | g.64758648C>A | CA381111207 | PYGM | c.300G>T (p.Met100Ile) c.244-382G>T (n.244-382G>T) | |
| 11 | g.64758648C= | CA1978928537 | PYGM | c.300G= (p.Met100=) c.244-382G= (n.244-382G=) | |
| 11 | g.64758648C>G | CA381111208 | PYGM | c.300G>C (p.Met100Ile) c.244-382G>C (n.244-382G>C) | |
| 11 | g.64758648C>T | CA6080311 | PYGM | c.300G>A (p.Met100Ile) c.244-382G>A (n.244-382G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758649A= | CA1978928540 | PYGM | c.299T= (p.Met100=) c.244-383T= (n.244-383T=) | |
| 11 | g.64758649A>C | CA381111210 | PYGM | c.299T>G (p.Met100Arg) c.244-383T>G (n.244-383T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758649A>G | CA6080312 | PYGM | c.299T>C (p.Met100Thr) c.244-383T>C (n.244-383T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758649A>T | CA381111216 | PYGM | c.299T>A (p.Met100Lys) c.244-383T>A (n.244-383T>A) | |
| 11 | g.64758650T>A | CA381111218 | PYGM | c.298A>T (p.Met100Leu) c.244-384A>T (n.244-384A>T) | dbSNP |
| 11 | g.64758650T>C | CA381111221 | PYGM | c.298A>G (p.Met100Val) c.244-384A>G (n.244-384A>G) | |
| 11 | g.64758650T>G | CA381111225 | PYGM | c.298A>C (p.Met100Leu) c.244-384A>C (n.244-384A>C) | |
| 11 | g.64758650T= | CA1978928541 | PYGM | c.298A= (p.Met100=) c.244-384A= (n.244-384A=) | |
| 11 | g.64758651G>A | CA474961099 | PYGM | c.297C>T (p.Thr99=) c.244-385C>T (n.244-385C>T) | ClinVar |
| 11 | g.64758651G>C | CA474961100 | PYGM | c.297C>G (p.Thr99=) c.244-385C>G (n.244-385C>G) | |
| 11 | g.64758651G>T | CA474961103 | PYGM | c.297C>A (p.Thr99=) c.244-385C>A (n.244-385C>A) | |
| 11 | g.64758652G>A | CA381111227 | PYGM | c.296C>T (p.Thr99Ile) c.244-386C>T (n.244-386C>T) | COSMIC |
| 11 | g.64758652G>C | CA381111232 | PYGM | c.296C>G (p.Thr99Ser) c.244-386C>G (n.244-386C>G) | |
| 11 | g.64758652G>T | CA381111235 | PYGM | c.296C>A (p.Thr99Asn) c.244-386C>A (n.244-386C>A) | |
| 11 | g.64758653T>A | CA381111239 | PYGM | c.295A>T (p.Thr99Ser) c.244-387A>T (n.244-387A>T) | |
| 11 | g.64758653T>C | CA381111241 | PYGM | c.295A>G (p.Thr99Ala) c.244-387A>G (n.244-387A>G) | dbSNP |
| 11 | g.64758653T>G | CA381111244 | PYGM | c.295A>C (p.Thr99Pro) c.244-387A>C (n.244-387A>C) | |
| 11 | g.64758653T= | CA1978928543 | PYGM | c.295A= (p.Thr99=) c.244-387A= (n.244-387A=) | |
| 11 | g.64758654G>A | CA474961117 | PYGM | c.294C>T (p.Asn98=) c.244-388C>T (n.244-388C>T) | gnomAD v4 |
| 11 | g.64758654G>C | CA381111249 | PYGM | c.294C>G (p.Asn98Lys) c.244-388C>G (n.244-388C>G) | |
| 11 | g.64758654G>T | CA381111252 | PYGM | c.294C>A (p.Asn98Lys) c.244-388C>A (n.244-388C>A) | |
| 11 | g.64758655T>A | CA381111256 | PYGM | c.293A>T (p.Asn98Ile) c.244-389A>T (n.244-389A>T) | |
| 11 | g.64758655T>C | CA381111258 | PYGM | c.293A>G (p.Asn98Ser) c.244-389A>G (n.244-389A>G) | |
| 11 | g.64758655T>G | CA381111255 | PYGM | c.293A>C (p.Asn98Thr) c.244-389A>C (n.244-389A>C) | |
| 11 | g.64758656T>A | CA381111265 | PYGM | c.292A>T (p.Asn98Tyr) c.244-390A>T (n.244-390A>T) | |
| 11 | g.64758656T>C | CA381111262 | PYGM | c.292A>G (p.Asn98Asp) c.244-390A>G (n.244-390A>G) | |
| 11 | g.64758656T>G | CA381111263 | PYGM | c.292A>C (p.Asn98His) c.244-390A>C (n.244-390A>C) | |
| 11 | g.64758657C>A | CA381111268 | PYGM | c.291G>T (p.Gln97His) c.244-391G>T (n.244-391G>T) | |
| 11 | g.64758657C= | CA1978928545 | PYGM | c.291G= (p.Gln97=) c.244-391G= (n.244-391G=) | |
| 11 | g.64758657C>G | CA381111274 | PYGM | c.291G>C (p.Gln97His) c.244-391G>C (n.244-391G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758657C>T | CA474961126 | PYGM | c.291G>A (p.Gln97=) c.244-391G>A (n.244-391G>A) | gnomAD v4 |
| 11 | g.64758658T>A | CA381111279 | PYGM | c.290A>T (p.Gln97Leu) c.244-392A>T (n.244-392A>T) | |
| 11 | g.64758658T>C | CA381111281 | PYGM | c.290A>G (p.Gln97Arg) c.244-392A>G (n.244-392A>G) | gnomAD v4 |
| 11 | g.64758658T>G | CA381111283 | PYGM | c.290A>C (p.Gln97Pro) c.244-392A>C (n.244-392A>C) | |
| 11 | g.64758659G>A | CA223888552 | PYGM | c.289C>T (p.Gln97Ter) c.244-393C>T (n.244-393C>T) | dbSNP |
| 11 | g.64758659G>C | CA381111306 | PYGM | c.289C>G (p.Gln97Glu) c.244-393C>G (n.244-393C>G) | |
| 11 | g.64758659G= | CA1978928547 | PYGM | c.289C= (p.Gln97=) c.244-393C= (n.244-393C=) | |
| 11 | g.64758659G>T | CA381111315 | PYGM | c.289C>A (p.Gln97Lys) c.244-393C>A (n.244-393C>A) | |
| 11 | g.64758660T>A | CA474961130 | PYGM | c.288A>T (p.Leu96=) c.244-394A>T (n.244-394A>T) | |
| 11 | g.64758660T>C | CA474961132 | PYGM | c.288A>G (p.Leu96=) c.244-394A>G (n.244-394A>G) | dbSNP gnomAD v4 |
| 11 | g.64758660T>G | CA474961134 | PYGM | c.288A>C (p.Leu96=) c.244-394A>C (n.244-394A>C) | |
| 11 | g.64758661A>C | CA381111318 | PYGM | c.287T>G (p.Leu96Arg) c.244-395T>G (n.244-395T>G) | |
| 11 | g.64758661A>G | CA381111320 | PYGM | c.287T>C (p.Leu96Pro) c.244-395T>C (n.244-395T>C) | |
| 11 | g.64758661A>T | CA381111321 | PYGM | c.287T>A (p.Leu96Gln) c.244-395T>A (n.244-395T>A) | |
| 11 | g.64758662G>A | CA474961141 | PYGM | c.286C>T (p.Leu96=) c.244-396C>T (n.244-396C>T) | ClinVar dbSNP |
| 11 | g.64758662G>C | CA381111324 | PYGM | c.286C>G (p.Leu96Val) c.244-396C>G (n.244-396C>G) | |
| 11 | g.64758662G>T | CA381111329 | PYGM | c.286C>A (p.Leu96Ile) c.244-396C>A (n.244-396C>A) | |
| 11 | g.64758663C>A | CA474961147 | PYGM | c.285G>T (p.Thr95=) c.244-397G>T (n.244-397G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758663C= | CA1978928548 | PYGM | c.285G= (p.Thr95=) c.244-397G= (n.244-397G=) | |
| 11 | g.64758663C>G | CA474961143 | PYGM | c.285G>C (p.Thr95=) c.244-397G>C (n.244-397G>C) | |
| 11 | g.64758663C>T | CA474961145 | PYGM | c.285G>A (p.Thr95=) c.244-397G>A (n.244-397G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758664G>A | CA6080313 | PYGM | c.284C>T (p.Thr95Met) c.244-398C>T (n.244-398C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758664G>C | CA381111332 | PYGM | c.284C>G (p.Thr95Arg) c.244-398C>G (n.244-398C>G) | |
| 11 | g.64758664G= | CA1978928551 | PYGM | c.284C= (p.Thr95=) c.244-398C= (n.244-398C=) | |
| 11 | g.64758664G>T | CA381111334 | PYGM | c.284C>A (p.Thr95Lys) c.244-398C>A (n.244-398C>A) | |
| 11 | g.64758665T>A | CA381111344 | PYGM | c.283A>T (p.Thr95Ser) c.244-399A>T (n.244-399A>T) | |
| 11 | g.64758665T>C | CA381111346 | PYGM | c.283A>G (p.Thr95Ala) c.244-399A>G (n.244-399A>G) | |
| 11 | g.64758665T>G | CA381111348 | PYGM | c.283A>C (p.Thr95Pro) c.244-399A>C (n.244-399A>C) | |
| 11 | g.64758666C>A | CA474961153 | PYGM | c.282G>T (p.Arg94=) c.244-400G>T (n.244-400G>T) | |
| 11 | g.64758666C>G | CA474961155 | PYGM | c.282G>C (p.Arg94=) c.244-400G>C (n.244-400G>C) | |
| 11 | g.64758666C>T | CA474961156 | PYGM | c.282G>A (p.Arg94=) c.244-400G>A (n.244-400G>A) | |
| 11 | g.64758667C>A | CA381111352 | PYGM | c.281G>T (p.Arg94Leu) c.244-401G>T (n.244-401G>T) | dbSNP |
| 11 | g.64758667C= | CA1978928553 | PYGM | c.281G= (p.Arg94=) c.244-401G= (n.244-401G=) | |
| 11 | g.64758667C>G | CA381111354 | PYGM | c.281G>C (p.Arg94Pro) c.244-401G>C (n.244-401G>C) | |
| 11 | g.64758667C>T | CA381111358 | PYGM | c.281G>A (p.Arg94Gln) c.244-401G>A (n.244-401G>A) | gnomAD v4 |
| 11 | g.64758668G>A | CA6080314 | PYGM | c.280C>T (p.Arg94Trp) c.244-402C>T (n.244-402C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758668G>C | CA381111381 | PYGM | c.280C>G (p.Arg94Gly) c.244-402C>G (n.244-402C>G) | |
| 11 | g.64758668G= | CA1978928555 | PYGM | c.280C= (p.Arg94=) c.244-402C= (n.244-402C=) | |
| 11 | g.64758668G>T | CA474961161 | PYGM | c.280C>A (p.Arg94=) c.244-402C>A (n.244-402C>A) | |
| 11 | g.64758669T>A | CA474961163 | PYGM | c.279A>T (p.Gly93=) c.244-403A>T (n.244-403A>T) | gnomAD v4 |
| 11 | g.64758669T>C | CA474961165 | PYGM | c.279A>G (p.Gly93=) c.244-403A>G (n.244-403A>G) | |
| 11 | g.64758669T>G | CA474961166 | PYGM | c.279A>C (p.Gly93=) c.244-403A>C (n.244-403A>C) | dbSNP |
| 11 | g.64758670C>A | CA381111386 | PYGM | c.278G>T (p.Gly93Val) c.244-404G>T (n.244-404G>T) | ClinVar dbSNP |
| 11 | g.64758670C= | CA1978928558 | PYGM | c.278G= (p.Gly93=) c.244-404G= (n.244-404G=) | |
| 11 | g.64758670C>G | CA381111388 | PYGM | c.278G>C (p.Gly93Ala) c.244-404G>C (n.244-404G>C) | |
| 11 | g.64758670C>T | CA381111384 | PYGM | c.278G>A (p.Gly93Glu) c.244-404G>A (n.244-404G>A) | |
| 11 | g.64758671C>A | CA381111392 | PYGM | c.277G>T (p.Gly93Ter) c.244-405G>T (n.244-405G>T) | |
| 11 | g.64758671C>G | CA381111394 | PYGM | c.277G>C (p.Gly93Arg) c.244-405G>C (n.244-405G>C) | |
| 11 | g.64758671C>T | CA381111395 | PYGM | c.277G>A (p.Gly93Arg) c.244-405G>A (n.244-405G>A) | |
| 11 | g.64758672C>A | CA381111397 | PYGM | c.276G>T (p.Met92Ile) c.244-406G>T (n.244-406G>T) | gnomAD v4 |
| 11 | g.64758672C>G | CA381111400 | PYGM | c.276G>C (p.Met92Ile) c.244-406G>C (n.244-406G>C) | dbSNP |
| 11 | g.64758672C>T | CA381111412 | PYGM | c.276G>A (p.Met92Ile) c.244-406G>A (n.244-406G>A) | |
| 11 | g.64758673A>C | CA381111421 | PYGM | c.275T>G (p.Met92Arg) c.244-407T>G (n.244-407T>G) | |
| 11 | g.64758673A>G | CA381111415 | PYGM | c.275T>C (p.Met92Thr) c.244-407T>C (n.244-407T>C) | |
| 11 | g.64758673A>T | CA381111417 | PYGM | c.275T>A (p.Met92Lys) c.244-407T>A (n.244-407T>A) | |
| 11 | g.64758674T>A | CA381111422 | PYGM | c.274A>T (p.Met92Leu) c.244-408A>T (n.244-408A>T) | |
| 11 | g.64758674T>C | CA381111424 | PYGM | c.274A>G (p.Met92Val) c.244-408A>G (n.244-408A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758674T>G | CA381111428 | PYGM | c.274A>C (p.Met92Leu) c.244-408A>C (n.244-408A>C) | |
| 11 | g.64758674T= | CA1978928619 | PYGM | c.274A= (p.Met92=) c.244-408A= (n.244-408A=) | |
| 11 | g.64758675A= | CA1978928621 | PYGM | c.273T= (p.Tyr91=) c.244-409T= (n.244-409T=) | |
| 11 | g.64758675A>C | CA381111429 | PYGM | c.273T>G (p.Tyr91Ter) c.244-409T>G (n.244-409T>G) | |
| 11 | g.64758675A>G | CA474961179 | PYGM | c.273T>C (p.Tyr91=) c.244-409T>C (n.244-409T>C) | dbSNP |
| 11 | g.64758675A>T | CA381111430 | PYGM | c.273T>A (p.Tyr91Ter) c.244-409T>A (n.244-409T>A) | |
| 11 | g.64758676T>A | CA381111432 | PYGM | c.272A>T (p.Tyr91Phe) c.244-410A>T (n.244-410A>T) | dbSNP |
| 11 | g.64758676T>C | CA381111437 | PYGM | c.272A>G (p.Tyr91Cys) c.244-410A>G (n.244-410A>G) | gnomAD v4 |
| 11 | g.64758676T>G | CA381111433 | PYGM | c.272A>C (p.Tyr91Ser) c.244-410A>C (n.244-410A>C) | dbSNP |
| 11 | g.64758676T= | CA1978928623 | PYGM | c.272A= (p.Tyr91=) c.244-410A= (n.244-410A=) | |
| 11 | g.64758677A>C | CA381111441 | PYGM | c.271T>G (p.Tyr91Asp) c.244-411T>G (n.244-411T>G) | |
| 11 | g.64758677A>G | CA381111442 | PYGM | c.271T>C (p.Tyr91His) c.244-411T>C (n.244-411T>C) | ClinVar |
| 11 | g.64758677A>T | CA381111443 | PYGM | c.271T>A (p.Tyr91Asn) c.244-411T>A (n.244-411T>A) | |
| 11 | g.64758678G>A | CA474961186 | PYGM | c.270C>T (p.Phe90=) c.244-412C>T (n.244-412C>T) | |
| 11 | g.64758678G>C | CA381111445 | PYGM | c.270C>G (p.Phe90Leu) c.244-412C>G (n.244-412C>G) | |
| 11 | g.64758678G>T | CA381111447 | PYGM | c.270C>A (p.Phe90Leu) c.244-412C>A (n.244-412C>A) | |
| 11 | g.64758679A>C | CA381111448 | PYGM | c.269T>G (p.Phe90Cys) c.244-413T>G (n.244-413T>G) | |
| 11 | g.64758679A>G | CA381111450 | PYGM | c.269T>C (p.Phe90Ser) c.244-413T>C (n.244-413T>C) | |
| 11 | g.64758679A>T | CA381111455 | PYGM | c.269T>A (p.Phe90Tyr) c.244-413T>A (n.244-413T>A) | |
| 11 | g.64758680A>C | CA381111457 | PYGM | c.268T>G (p.Phe90Val) c.244-414T>G (n.244-414T>G) | |
| 11 | g.64758680A>G | CA381111458 | PYGM | c.268T>C (p.Phe90Leu) c.244-414T>C (n.244-414T>C) | |
| 11 | g.64758680A>T | CA381111461 | PYGM | c.268T>A (p.Phe90Ile) c.244-414T>A (n.244-414T>A) | |
| 11 | g.64758681C>A | CA381111463 | PYGM | c.267G>T (p.Glu89Asp) c.244-415G>T (n.244-415G>T) | |
| 11 | g.64758681C>G | CA381111465 | PYGM | c.267G>C (p.Glu89Asp) c.244-415G>C (n.244-415G>C) | |
| 11 | g.64758681C>T | CA474961194 | PYGM | c.267G>A (p.Glu89=) c.244-415G>A (n.244-415G>A) | dbSNP gnomAD v4 |
| 11 | g.64758682T>A | CA381111470 | PYGM | c.266A>T (p.Glu89Val) c.244-416A>T (n.244-416A>T) | |
| 11 | g.64758682T>C | CA381111476 | PYGM | c.266A>G (p.Glu89Gly) c.244-416A>G (n.244-416A>G) | |
| 11 | g.64758682T>G | CA381111467 | PYGM | c.266A>C (p.Glu89Ala) c.244-416A>C (n.244-416A>C) | |
| 11 | g.64758683C>A | CA381111483 | PYGM | c.265G>T (p.Glu89Ter) c.244-417G>T (n.244-417G>T) | |
| 11 | g.64758683C= | CA1978928625 | PYGM | c.265G= (p.Glu89=) c.244-417G= (n.244-417G=) | |
| 11 | g.64758683C>G | CA381111481 | PYGM | c.265G>C (p.Glu89Gln) c.244-417G>C (n.244-417G>C) | |
| 11 | g.64758683C>T | CA381111489 | PYGM | c.265G>A (p.Glu89Lys) c.244-417G>A (n.244-417G>A) | |
| 11 | g.64758684del | CA2574864969 | PYGM | c.264del (p.Glu89SerfsTer13) c.244-418del (n.244-418del) | |
| 11 | g.64758684T>A | CA381111494 | PYGM | c.264A>T (p.Leu88Phe) c.244-418A>T (n.244-418A>T) | |
| 11 | g.64758684T>C | CA223888554 | PYGM | c.264A>G (p.Leu88=) c.244-418A>G (n.244-418A>G) | dbSNP |
| 11 | g.64758684T>G | CA381111497 | PYGM | c.264A>C (p.Leu88Phe) c.244-418A>C (n.244-418A>C) | |
| 11 | g.64758684T= | CA1978928626 | PYGM | c.264A= (p.Leu88=) c.244-418A= (n.244-418A=) | |
| 11 | g.64758684_64758685dup | CA599653894 | PYGM | c.263_264dup (p.Glu89Ter) c.244-419_244-418dup (n.244-419_244-418dup) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64758684_64758686del | CA912972828 | PYGM | c.262_264del (p.Leu88del) c.244-420_244-418del (n.244-420_244-418del) | |
| 11 | g.64758684_64758686delinsTAA | CA1978928628 | PYGM | c.262_264delinsTTA (p.Leu88=) c.244-420_244-418delinsTTA (n.244-420_244-418delinsTTA) | |
| 11 | g.64758685A>C | CA381111498 | PYGM | c.263T>G (p.Leu88Ter) c.244-419T>G (n.244-419T>G) | |
| 11 | g.64758685A>G | CA381111501 | PYGM | c.263T>C (p.Leu88Ser) c.244-419T>C (n.244-419T>C) | gnomAD v4 |
| 11 | g.64758685A>T | CA381111512 | PYGM | c.263T>A (p.Leu88Ter) c.244-419T>A (n.244-419T>A) | |
| 11 | g.64758687del | CA2574864974 | PYGM | c.263del (p.Leu88Ter) c.244-419del (n.244-419del) | |
| 11 | g.64758686_64758687del | CA658822241 | PYGM | c.262_263del (p.Leu88ArgfsTer22) c.244-420_244-419del (n.244-420_244-419del) | ClinVar dbSNP |
| 11 | g.64758686A>C | CA381111516 | PYGM | c.262T>G (p.Leu88Val) c.244-420T>G (n.244-420T>G) | |
| 11 | g.64758686A>G | CA474961203 | PYGM | c.262T>C (p.Leu88=) c.244-420T>C (n.244-420T>C) | COSMIC |
| 11 | g.64758686A>T | CA381111519 | PYGM | c.262T>A (p.Leu88Ile) c.244-420T>A (n.244-420T>A) | |
| 11 | g.64758686_64758688delinsAAG | CA1978928632 | PYGM | c.260_262delinsCTT (p.Ser87=) c.244-422_244-420delinsCTT (n.244-422_244-420delinsCTT) | |
| 11 | g.64758686_64758697delinsAAGACAGGTAGT | CA1978928633 | PYGM | c.251_262delinsACTACCTGTCTT (p.Tyr84=) c.244-431_244-420delinsACTACCTGTCTT (n.244-431_244-420delinsACTACCTGTCTT) | |
| 11 | g.64758687A>C | CA474961207 | PYGM | c.261T>G (p.Ser87=) c.244-421T>G (n.244-421T>G) | |
| 11 | g.64758687A>G | CA474961209 | PYGM | c.261T>C (p.Ser87=) c.244-421T>C (n.244-421T>C) | |
| 11 | g.64758687A>T | CA474961210 | PYGM | c.261T>A (p.Ser87=) c.244-421T>A (n.244-421T>A) | |
| 11 | g.64758687_64758688insTA | CA2695214483 | PYGM | c.261_262insAT (p.Leu88IlefsTer2) c.244-421_244-420insAT (n.244-421_244-420insAT) | |
| 11 | g.64758688_64758689del | CA6080315 | PYGM | c.260_261del (p.Ser87PhefsTer23) c.244-422_244-421del (n.244-422_244-421del) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.64758690_64758700del | CA16041503 | PYGM | c.251_261del (p.Tyr84PhefsTer23) c.244-431_244-421del (n.244-431_244-421del) | ClinVar dbSNP |
| 11 | g.64758688del | CA2614191225 | PYGM | c.260del (p.Ser87PhefsTer2) c.244-422del (n.244-422del) | gnomAD v4 |
| 11 | g.64758688G>A | CA381111529 | PYGM | c.260C>T (p.Ser87Phe) c.244-422C>T (n.244-422C>T) | gnomAD v4 |
| 11 | g.64758688G>C | CA381111537 | PYGM | c.260C>G (p.Ser87Cys) c.244-422C>G (n.244-422C>G) | |
| 11 | g.64758688G>T | CA381111540 | PYGM | c.260C>A (p.Ser87Tyr) c.244-422C>A (n.244-422C>A) | |
| 11 | g.64758689A>C | CA381111546 | PYGM | c.259T>G (p.Ser87Ala) c.244-423T>G (n.244-423T>G) | |
| 11 | g.64758689A>G | CA381111543 | PYGM | c.259T>C (p.Ser87Pro) c.244-423T>C (n.244-423T>C) | gnomAD v4 |
| 11 | g.64758689A>T | CA381111542 | PYGM | c.259T>A (p.Ser87Thr) c.244-423T>A (n.244-423T>A) | |
| 11 | g.64758689_64758709delinsACAGGTAGTAGATCCTCTGCC | CA1978928637 | PYGM | c.244-5_259delinsGGCAGAGGATCTACTACCTGT c.244-443_244-423delinsGGCAGAGGATCTACTACCTGT (n.244-443_244-423delinsGGCAGAGGATCTACTACCTGT) | |
| 11 | g.64758690C>A | CA474961219 | PYGM | c.258G>T (p.Leu86=) c.244-424G>T (n.244-424G>T) | |
| 11 | g.64758690C>G | CA474961220 | PYGM | c.258G>C (p.Leu86=) c.244-424G>C (n.244-424G>C) | |
| 11 | g.64758690C>T | CA474961221 | PYGM | c.258G>A (p.Leu86=) c.244-424G>A (n.244-424G>A) | |
| 11 | g.64758693_64758712del | CA6080316 | PYGM | c.244-5_258del c.244-443_244-424del (n.244-443_244-424del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64758691A>C | CA381111552 | PYGM | c.257T>G (p.Leu86Arg) c.244-425T>G (n.244-425T>G) | |
| 11 | g.64758691A>G | CA381111554 | PYGM | c.257T>C (p.Leu86Pro) c.244-425T>C (n.244-425T>C) | |
| 11 | g.64758691A>T | CA381111560 | PYGM | c.257T>A (p.Leu86Gln) c.244-425T>A (n.244-425T>A) | |
| 11 | g.64758693_64758696del | CA2573053536 | PYGM | c.254_257del (p.Tyr85CysfsTer3) c.244-428_244-425del (n.244-428_244-425del) | ClinVar dbSNP |
| 11 | g.64758692G>A | CA6080317 | PYGM | c.256C>T (p.Leu86=) c.244-426C>T (n.244-426C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758692G>C | CA381111564 | PYGM | c.256C>G (p.Leu86Val) c.244-426C>G (n.244-426C>G) | |
| 11 | g.64758692G= | CA1978928640 | PYGM | c.256C= (p.Leu86=) c.244-426C= (n.244-426C=) | |
| 11 | g.64758692G>T | CA381111567 | PYGM | c.256C>A (p.Leu86Met) c.244-426C>A (n.244-426C>A) | |
| 11 | g.64758693G>A | CA474961228 | PYGM | c.255C>T (p.Tyr85=) c.244-427C>T (n.244-427C>T) | |
| 11 | g.64758693G>C | CA381111569 | PYGM | c.255C>G (p.Tyr85Ter) c.244-427C>G (n.244-427C>G) | |
| 11 | g.64758693G= | CA1978928643 | PYGM | c.255C= (p.Tyr85=) c.244-427C= (n.244-427C=) | |
| 11 | g.64758693G>T | CA345696 | PYGM | c.255C>A (p.Tyr85Ter) c.244-427C>A (n.244-427C>A) | ClinVar dbSNP gnomAD v4 |