Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.64759748_64759770delinsCTCGTGGGGTGGCCACATTGCGG | CA1978929868 | PYGM | c.129_151delinsCCGCAATGTGGCCACCCCACGAG (p.Asp43=) | |
11 | g.64759751_64759772del | CA916083248 | PYGM | c.129_150del (p.Asp43GlufsTer?) | ClinVar dbSNP gnomAD v4 |
11 | g.64759753G>A | CA381112526 | PYGM | c.146C>T (p.Pro49Leu) | |
11 | g.64759753G>C | CA381112528 | PYGM | c.146C>G (p.Pro49Arg) | |
11 | g.64759753G= | CA1978929893 | PYGM | c.146C= (p.Pro49=) | |
11 | g.64759753G>T | CA6080359 | PYGM | c.146C>A (p.Pro49Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64759754G>A | CA381112531 | PYGM | c.145C>T (p.Pro49Ser) | |
11 | g.64759754G>C | CA381112535 | PYGM | c.145C>G (p.Pro49Ala) | |
11 | g.64759754G= | CA1978929899 | PYGM | c.145C= (p.Pro49=) | |
11 | g.64759754G>T | CA381112533 | PYGM | c.145C>A (p.Pro49Thr) | |
11 | g.64759755G>A | CA475161367 | PYGM | c.144C>T (p.Thr48=) | |
11 | g.64759755G>C | CA475161368 | PYGM | c.144C>G (p.Thr48=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759755G= | CA1978929901 | PYGM | c.144C= (p.Thr48=) | |
11 | g.64759755G>T | CA475161370 | PYGM | c.144C>A (p.Thr48=) | |
11 | g.64759758_64759771dup | CA6080360 | PYGM | c.131_144dup (p.Pro49AlafsTer?) | dbSNP ExAC gnomAD v2 |
11 | g.64759756G>A | CA381112544 | PYGM | c.143C>T (p.Thr48Ile) | |
11 | g.64759756G>C | CA381112549 | PYGM | c.143C>G (p.Thr48Ser) | |
11 | g.64759756G>T | CA381112563 | PYGM | c.143C>A (p.Thr48Asn) | |
11 | g.64759757T>A | CA381112566 | PYGM | c.142A>T (p.Thr48Ser) | |
11 | g.64759757T>C | CA381112570 | PYGM | c.142A>G (p.Thr48Ala) | dbSNP gnomAD v4 |
11 | g.64759757T>G | CA381112568 | PYGM | c.142A>C (p.Thr48Pro) | |
11 | g.64759757T= | CA1978929906 | PYGM | c.142A= (p.Thr48=) | |
11 | g.64759758G>A | CA6080361 | PYGM | c.141C>T (p.Ala47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759758G>C | CA475161374 | PYGM | c.141C>G (p.Ala47=) | |
11 | g.64759758G= | CA1978929908 | PYGM | c.141C= (p.Ala47=) | |
11 | g.64759758G>T | CA475161375 | PYGM | c.141C>A (p.Ala47=) | |
11 | g.64759759dup | CA2574865066 | PYGM | c.141dup (p.Thr48HisfsTer30) | |
11 | g.64759759del | CA2580084890 | PYGM | c.141del (p.Thr48ProfsTer?) | ClinVar |
11 | g.64759759G>A | CA381112575 | PYGM | c.140C>T (p.Ala47Val) | |
11 | g.64759759G>C | CA381112580 | PYGM | c.140C>G (p.Ala47Gly) | |
11 | g.64759759G>T | CA381112583 | PYGM | c.140C>A (p.Ala47Asp) | |
11 | g.64759760C>A | CA381112586 | PYGM | c.139G>T (p.Ala47Ser) | |
11 | g.64759760C= | CA1978929912 | PYGM | c.139G= (p.Ala47=) | |
11 | g.64759760C>G | CA381112588 | PYGM | c.139G>C (p.Ala47Pro) | |
11 | g.64759760C>T | CA381112591 | PYGM | c.139G>A (p.Ala47Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64759761C>A | CA475161379 | PYGM | c.138G>T (p.Val46=) | |
11 | g.64759761C= | CA1978929915 | PYGM | c.138G= (p.Val46=) | |
11 | g.64759761C>G | CA6080363 | PYGM | c.138G>C (p.Val46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64759761C>T | CA6080362 | PYGM | c.138G>A (p.Val46=) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.64759762A>C | CA381112607 | PYGM | c.137T>G (p.Val46Gly) | |
11 | g.64759762A>G | CA381112609 | PYGM | c.137T>C (p.Val46Ala) | |
11 | g.64759762A>T | CA381112613 | PYGM | c.137T>A (p.Val46Glu) | |
11 | g.64759763C>A | CA381112620 | PYGM | c.136G>T (p.Val46Leu) | |
11 | g.64759763C>G | CA381112623 | PYGM | c.136G>C (p.Val46Leu) | |
11 | g.64759763C>T | CA381112618 | PYGM | c.136G>A (p.Val46Met) | COSMIC |
11 | g.64759764A= | CA1978929921 | PYGM | c.135T= (p.Asn45=) | |
11 | g.64759764A>C | CA381112635 | PYGM | c.135T>G (p.Asn45Lys) | |
11 | g.64759764A>G | CA475161380 | PYGM | c.135T>C (p.Asn45=) | ClinVar dbSNP gnomAD v4 |
11 | g.64759764A>T | CA381112631 | PYGM | c.135T>A (p.Asn45Lys) | |
11 | g.64759765T>A | CA381112642 | PYGM | c.134A>T (p.Asn45Ile) |