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