Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.64751923C>A | CA381170233 | PYGM | c.1768+1G>T (n.1768+1G>T) c.1504+1G>T (n.1504+1G>T) n.92+1G>T | |
11 | g.64751923C= | CA1978917706 | PYGM | c.1768+1G= (n.1768+1G=) c.1504+1G= (n.1504+1G=) n.92+1G= | |
11 | g.64751923C>G | CA381170249 | PYGM | c.1768+1G>C (n.1768+1G>C) c.1504+1G>C (n.1504+1G>C) n.92+1G>C | |
11 | g.64751923C>T | CA275011 | PYGM | c.1768+1G>A (n.1768+1G>A) c.1504+1G>A (n.1504+1G>A) n.92+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751924G>A | CA6079761 | PYGM | c.1768C>T (p.Arg590Cys) c.1504C>T (p.Arg502Cys) n.92C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.64751924G>C | CA381170259 | PYGM | c.1768C>G (p.Arg590Gly) c.1504C>G (p.Arg502Gly) n.92C>G | dbSNP |
11 | g.64751924G= | CA1978917717 | PYGM | c.1768C= (p.Arg590=) c.1504C= (p.Arg502=) n.92C= | |
11 | g.64751924G>T | CA381170262 | PYGM | c.1768C>A (p.Arg590Ser) c.1504C>A (p.Arg502Ser) n.92C>A | COSMIC |
11 | g.64751925G>A | CA474958971 | PYGM | c.1767C>T (p.Asn589=) c.1503C>T (p.Asn501=) n.91C>T | gnomAD v4 |
11 | g.64751925G>C | CA381170267 | PYGM | c.1767C>G (p.Asn589Lys) c.1503C>G (p.Asn501Lys) n.91C>G | |
11 | g.64751925G>T | CA381170269 | PYGM | c.1767C>A (p.Asn589Lys) c.1503C>A (p.Asn501Lys) n.91C>A | gnomAD v4 |
11 | g.64751926T>A | CA381170275 | PYGM | c.1766A>T (p.Asn589Ile) c.1502A>T (p.Asn501Ile) n.90A>T | |
11 | g.64751926T>C | CA6079762 | PYGM | c.1766A>G (p.Asn589Ser) c.1502A>G (p.Asn501Ser) n.90A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64751926T>G | CA381170278 | PYGM | c.1766A>C (p.Asn589Thr) c.1502A>C (p.Asn501Thr) n.90A>C | dbSNP |
11 | g.64751926T= | CA1978917732 | PYGM | c.1766A= (p.Asn589=) c.1502A= (p.Asn501=) n.90A= | |
11 | g.64751927T>A | CA381170282 | PYGM | c.1765A>T (p.Asn589Tyr) c.1501A>T (p.Asn501Tyr) n.89A>T | |
11 | g.64751927T>C | CA6079763 | PYGM | c.1765A>G (p.Asn589Asp) c.1501A>G (p.Asn501Asp) n.89A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64751927T>G | CA381170285 | PYGM | c.1765A>C (p.Asn589His) c.1501A>C (p.Asn501His) n.89A>C | |
11 | g.64751927T= | CA1978917743 | PYGM | c.1765A= (p.Asn589=) c.1501A= (p.Asn501=) n.89A= | |
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 |