| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) |