Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135788094A= | CA1290821997 | LCT | c.*230T= (n.*230T=) | |
2 | g.135788094A>G | CA10612139 | LCT | c.*230T>C (n.*230T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135788095C>G | CA2661271276 | LCT | c.*229G>C (n.*229G>C) | gnomAD v4 |
2 | g.135788098G= | CA1290821998 | LCT | c.*226C= (n.*226C=) | |
2 | g.135788098G>T | CA56593612 | LCT | c.*226C>A (n.*226C>A) | dbSNP gnomAD v4 |
2 | g.135788100T>G | CA2661271277 | LCT | c.*224A>C (n.*224A>C) | gnomAD v4 |
2 | g.135788101T>C | CA757453405 | LCT | c.*223A>G (n.*223A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788101T= | CA1290821999 | LCT | c.*223A= (n.*223A=) | |
2 | g.135788104C>A | CA2661271279 | LCT | c.*220G>T (n.*220G>T) | gnomAD v4 |
2 | g.135788106A= | CA1290822000 | LCT | c.*218T= (n.*218T=) | |
2 | g.135788106A>G | CA1036793089 | LCT | c.*218T>C (n.*218T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788108T>C | CA2661271280 | LCT | c.*216A>G (n.*216A>G) | gnomAD v4 |
2 | g.135788109G>A | CA56593634 | LCT | c.*215C>T (n.*215C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135788109G= | CA1290822001 | LCT | c.*215C= (n.*215C=) | |
2 | g.135788109G>T | CA56593646 | LCT | c.*215C>A (n.*215C>A) | dbSNP gnomAD v4 |
2 | g.135788109_135788110delinsGC | CA1290822002 | LCT | c.*214_*215delinsGC (n.*214_*215delinsGC) | |
2 | g.135788110C>A | CA2661271284 | LCT | c.*214G>T (n.*214G>T) | gnomAD v4 |
2 | g.135788110C= | CA1290822003 | LCT | c.*214G= (n.*214G=) | |
2 | g.135788110C>T | CA1036793097 | LCT | c.*214G>A (n.*214G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788110_135788112del | CA2604936089 | LCT | c.*212_*214del (n.*212_*214del) | gnomAD v3 gnomAD v4 |
2 | g.135788112del | CA56593651 | LCT | c.*214del (n.*214del) | dbSNP |
2 | g.135788112C>A | CA2661271285 | LCT | c.*212G>T (n.*212G>T) | gnomAD v4 |
2 | g.135788114A= | CA1290822004 | LCT | c.*210T= (n.*210T=) | |
2 | g.135788114A>C | CA2700421315 | LCT | c.*210T>G (n.*210T>G) | dbSNP |
2 | g.135788114A>G | CA757453407 | LCT | c.*210T>C (n.*210T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788115A= | CA1290822005 | LCT | c.*209T= (n.*209T=) | |
2 | g.135788115A>G | CA1290822006 | LCT | c.*209T>C (n.*209T>C) | dbSNP |
2 | g.135788116T>C | CA1290822008 | LCT | c.*208A>G (n.*208A>G) | dbSNP |
2 | g.135788116T= | CA1290822007 | LCT | c.*208A= (n.*208A=) | |
2 | g.135788117G>T | CA2661271286 | LCT | c.*207C>A (n.*207C>A) | gnomAD v4 |
2 | g.135788119_135788121delinsACT | CA1290822009 | LCT | c.*203_*205delinsAGT (n.*203_*205delinsAGT) | |
2 | g.135788122_135788123del | CA1290822010 | LCT | c.*203_*204del (n.*203_*204del) | dbSNP gnomAD v4 |
2 | g.135788121T>G | CA1290822012 | LCT | c.*203A>C (n.*203A>C) | dbSNP |
2 | g.135788121T= | CA1290822011 | LCT | c.*203A= (n.*203A=) | |
2 | g.135788122C>A | CA2661271288 | LCT | c.*202G>T (n.*202G>T) | gnomAD v4 |
2 | g.135788122C= | CA1290822013 | LCT | c.*202G= (n.*202G=) | |
2 | g.135788122C>G | CA2661271290 | LCT | c.*202G>C (n.*202G>C) | gnomAD v4 |
2 | g.135788122C>T | CA2661271291 | LCT | c.*202G>A (n.*202G>A) | gnomAD v4 |
2 | g.135788123dup | CA757453408 | LCT | c.*201dup (n.*201dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788124G>A | CA2661271295 | LCT | c.*200C>T (n.*200C>T) | gnomAD v4 |
2 | g.135788124G>C | CA2661271296 | LCT | c.*200C>G (n.*200C>G) | gnomAD v4 |
2 | g.135788128C>A | CA2661271298 | LCT | c.*196G>T (n.*196G>T) | gnomAD v4 |
2 | g.135788129_135788132delinsTGGA | CA1290822014 | LCT | c.*192_*195delinsTCCA (n.*192_*195delinsTCCA) | |
2 | g.135788130G>T | CA2661271300 | LCT | c.*194C>A (n.*194C>A) | gnomAD v4 |
2 | g.135788131_135788133del | CA757453410 | LCT | c.*192_*194del (n.*192_*194del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788131G>A | CA757453419 | LCT | c.*193C>T (n.*193C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.135788131G= | CA1290822015 | LCT | c.*193C= (n.*193C=) | |
2 | g.135788133G= | CA1290822016 | LCT | c.*191C= (n.*191C=) | |
2 | g.135788133G>T | CA536392628 | LCT | c.*191C>A (n.*191C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135788134C>A | CA2661271305 | LCT | c.*190G>T (n.*190G>T) | gnomAD v4 |