Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.2417445T>A | CA408015337 | TGM6 | c.1550T>A (p.Leu517Ter) | |
20 | g.2417445T>C | CA408015338 | TGM6 | c.1550T>C (p.Leu517Ser) | |
20 | g.2417445T>G | CA259991 | TGM6 | c.1550T>G (p.Leu517Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417445T= | CA2346098442 | TGM6 | c.1550T= (p.Leu517=) | |
20 | g.2417445_2417446delinsTG | CA2346098443 | TGM6 | c.1550_1551delinsTG (p.Leu517=) | |
20 | g.2417446G>A | CA509547616 | TGM6 | c.1551G>A (p.Leu517=) | |
20 | g.2417446G>C | CA9732126 | TGM6 | c.1551G>C (p.Leu517Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417446G= | CA2346098444 | TGM6 | c.1551G= (p.Leu517=) | |
20 | g.2417446G>T | CA408015339 | TGM6 | c.1551G>T (p.Leu517Phe) | |
20 | g.2417447del | CA742324601 | TGM6 | c.1552del (p.Ala518ProfsTer10) | dbSNP |
20 | g.2417447G>A | CA408015340 | TGM6 | c.1552G>A (p.Ala518Thr) | |
20 | g.2417447G>C | CA408015341 | TGM6 | c.1552G>C (p.Ala518Pro) | |
20 | g.2417447G= | CA2346098445 | TGM6 | c.1552G= (p.Ala518=) | |
20 | g.2417447G>T | CA408015342 | TGM6 | c.1552G>T (p.Ala518Ser) | dbSNP gnomAD v4 |
20 | g.2417448C>A | CA408015343 | TGM6 | c.1553C>A (p.Ala518Asp) | COSMIC |
20 | g.2417448C>G | CA408015344 | TGM6 | c.1553C>G (p.Ala518Gly) | |
20 | g.2417448C>T | CA408015345 | TGM6 | c.1553C>T (p.Ala518Val) | COSMIC |
20 | g.2417449C>A | CA509547621 | TGM6 | c.1554C>A (p.Ala518=) | |
20 | g.2417449C>G | CA509547619 | TGM6 | c.1554C>G (p.Ala518=) | |
20 | g.2417449C>T | CA509547620 | TGM6 | c.1554C>T (p.Ala518=) | gnomAD v4 |
20 | g.2417450A>C | CA408015346 | TGM6 | c.1555A>C (p.Asn519His) | |
20 | g.2417450A>G | CA408015348 | TGM6 | c.1555A>G (p.Asn519Asp) | |
20 | g.2417450A>T | CA408015347 | TGM6 | c.1555A>T (p.Asn519Tyr) | |
20 | g.2417451A= | CA2346098446 | TGM6 | c.1556A= (p.Asn519=) | |
20 | g.2417451A>C | CA9732127 | TGM6 | c.1556A>C (p.Asn519Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417451A>G | CA9732128 | TGM6 | c.1556A>G (p.Asn519Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417451A>T | CA9732129 | TGM6 | c.1556A>T (p.Asn519Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417452C>A | CA408015349 | TGM6 | c.1557C>A (p.Asn519Lys) | |
20 | g.2417452C= | CA2346098447 | TGM6 | c.1557C= (p.Asn519=) | |
20 | g.2417452C>G | CA408015350 | TGM6 | c.1557C>G (p.Asn519Lys) | |
20 | g.2417452C>T | CA509547623 | TGM6 | c.1557C>T (p.Asn519=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417453C>A | CA408015351 | TGM6 | c.1558C>A (p.Leu520Ile) | |
20 | g.2417453C= | CA2346098448 | TGM6 | c.1558C= (p.Leu520=) | |
20 | g.2417453C>G | CA408015352 | TGM6 | c.1558C>G (p.Leu520Val) | dbSNP gnomAD v4 |
20 | g.2417453C>T | CA408015353 | TGM6 | c.1558C>T (p.Leu520Phe) | dbSNP |
20 | g.2417454T>A | CA408015356 | TGM6 | c.1559T>A (p.Leu520His) | |
20 | g.2417454T>C | CA408015355 | TGM6 | c.1559T>C (p.Leu520Pro) | |
20 | g.2417454T>G | CA408015354 | TGM6 | c.1559T>G (p.Leu520Arg) | |
20 | g.2417455C>A | CA509547629 | TGM6 | c.1560C>A (p.Leu520=) | |
20 | g.2417455C>G | CA509547627 | TGM6 | c.1560C>G (p.Leu520=) | |
20 | g.2417455C>T | CA509547628 | TGM6 | c.1560C>T (p.Leu520=) | |
20 | g.2417456A= | CA2346098449 | TGM6 | c.1561A= (p.Thr521=) | |
20 | g.2417456A>C | CA408015357 | TGM6 | c.1561A>C (p.Thr521Pro) | dbSNP |
20 | g.2417456A>G | CA408015358 | TGM6 | c.1561A>G (p.Thr521Ala) | |
20 | g.2417456A>T | CA408015359 | TGM6 | c.1561A>T (p.Thr521Ser) | |
20 | g.2417457C>A | CA408015360 | TGM6 | c.1562C>A (p.Thr521Asn) | |
20 | g.2417457C>G | CA408015361 | TGM6 | c.1562C>G (p.Thr521Ser) | |
20 | g.2417457C>T | CA408015362 | TGM6 | c.1562C>T (p.Thr521Ile) | gnomAD v4 |
20 | g.2417458C>A | CA509547633 | TGM6 | c.1563C>A (p.Thr521=) | |
20 | g.2417458C>G | CA509547634 | TGM6 | c.1563C>G (p.Thr521=) |