Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135788030G>A | CA1290821971 | LCT | c.*294C>T (n.*294C>T) | dbSNP |
2 | g.135788030G>C | CA1290821970 | LCT | c.*294C>G (n.*294C>G) | dbSNP gnomAD v4 |
2 | g.135788030G= | CA1290821969 | LCT | c.*294C= (n.*294C=) | |
2 | g.135788031T>C | CA2661271232 | LCT | c.*293A>G (n.*293A>G) | gnomAD v4 |
2 | g.135788031T>G | CA1290821973 | LCT | c.*293A>C (n.*293A>C) | dbSNP |
2 | g.135788031T= | CA1290821972 | LCT | c.*293A= (n.*293A=) | |
2 | g.135788031_135788034dup | CA2661271230 | LCT | c.*290_*293dup (n.*290_*293dup) | gnomAD v4 |
2 | g.135788035G>A | CA2752308158 | LCT | c.*289C>T (n.*289C>T) | |
2 | g.135788035G= | CA1290821974 | LCT | c.*289C= (n.*289C=) | |
2 | g.135788035G>T | CA914476356 | LCT | c.*289C>A (n.*289C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135788038del | CA2661271235 | LCT | c.*286del (n.*286del) | gnomAD v4 |
2 | g.135788038C>A | CA2550167484 | LCT | c.*286G>T (n.*286G>T) | |
2 | g.135788039A= | CA1290821975 | LCT | c.*285T= (n.*285T=) | |
2 | g.135788039A>G | CA536392608 | LCT | c.*285T>C (n.*285T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135788040A>G | CA2661271238 | LCT | c.*284T>C (n.*284T>C) | gnomAD v4 |
2 | g.135788041T>C | CA1290821976 | LCT | c.*283A>G (n.*283A>G) | dbSNP |
2 | g.135788041T= | CA1290821977 | LCT | c.*283A= (n.*283A=) | |
2 | g.135788043_135788044insTTTTTT | CA1036793044 | LCT | c.*280_*281insAAAAAA (n.*280_*281insAAAAAA) | gnomAD v3 gnomAD v4 |
2 | g.135788045G>A | CA536392610 | LCT | c.*279C>T (n.*279C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135788045G= | CA1290821978 | LCT | c.*279C= (n.*279C=) | |
2 | g.135788046T>C | CA2661271240 | LCT | c.*278A>G (n.*278A>G) | gnomAD v4 |
2 | g.135788047G>T | CA2661271241 | LCT | c.*277C>A (n.*277C>A) | gnomAD v4 |
2 | g.135788048G>A | CA1036793061 | LCT | c.*276C>T (n.*276C>T) | gnomAD v3 gnomAD v4 |
2 | g.135788049T>C | CA56593563 | LCT | c.*275A>G (n.*275A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135788049T= | CA1290821979 | LCT | c.*275A= (n.*275A=) | |
2 | g.135788050_135788051del | CA1036793068 | LCT | c.*273_*274del (n.*273_*274del) | gnomAD v3 gnomAD v4 |
2 | g.135788051C>A | CA2661271246 | LCT | c.*273G>T (n.*273G>T) | gnomAD v4 |
2 | g.135788053C>A | CA2700692483 | LCT | c.*271G>T (n.*271G>T) | dbSNP |
2 | g.135788053C>T | CA2661271247 | LCT | c.*271G>A (n.*271G>A) | gnomAD v4 |
2 | g.135788053_135788054insGG | CA1036793069 | LCT | c.*270_*271insCC (n.*270_*271insCC) | gnomAD v3 gnomAD v4 |
2 | g.135788054A>C | CA1036793070 | LCT | c.*270T>G (n.*270T>G) | gnomAD v3 gnomAD v4 |
2 | g.135788054A>G | CA2661271248 | LCT | c.*270T>C (n.*270T>C) | gnomAD v4 |
2 | g.135788057C= | CA1290821980 | LCT | c.*267G= (n.*267G=) | |
2 | g.135788057C>G | CA757453381 | LCT | c.*267G>C (n.*267G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788058C>A | CA2661271250 | LCT | c.*266G>T (n.*266G>T) | gnomAD v4 |
2 | g.135788058C>T | CA2661271249 | LCT | c.*266G>A (n.*266G>A) | gnomAD v4 |
2 | g.135788059C>A | CA2661271251 | LCT | c.*265G>T (n.*265G>T) | gnomAD v4 |
2 | g.135788059_135788064del | CA1036793072 | LCT | c.*260_*265del (n.*260_*265del) | gnomAD v3 gnomAD v4 |
2 | g.135788060A= | CA1290821981 | LCT | c.*264T= (n.*264T=) | |
2 | g.135788060A>G | CA757453388 | LCT | c.*264T>C (n.*264T>C) | dbSNP gnomAD v4 |
2 | g.135788060A>T | CA2661271253 | LCT | c.*264T>A (n.*264T>A) | gnomAD v4 |
2 | g.135788061C>G | CA2661271254 | LCT | c.*263G>C (n.*263G>C) | gnomAD v4 |
2 | g.135788064G>C | CA2661271255 | LCT | c.*260C>G (n.*260C>G) | gnomAD v4 |
2 | g.135788066C>A | CA2661271256 | LCT | c.*258G>T (n.*258G>T) | gnomAD v4 |
2 | g.135788067_135788068insG | CA1036793074 | LCT | c.*256_*257insC (n.*256_*257insC) | gnomAD v3 gnomAD v4 |
2 | g.135788070del | CA1036793078 | LCT | c.*254del (n.*254del) | gnomAD v3 gnomAD v4 |
2 | g.135788071A>G | CA2661271257 | LCT | c.*253T>C (n.*253T>C) | gnomAD v4 |
2 | g.135788072T>A | CA2661271258 | LCT | c.*252A>T (n.*252A>T) | gnomAD v4 |
2 | g.135788072T>C | CA56593571 | LCT | c.*252A>G (n.*252A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788072T>G | CA1290821983 | LCT | c.*252A>C (n.*252A>C) | dbSNP gnomAD v4 |