Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135788010C>A | CA2661271212 | LCT | c.*314G>T (n.*314G>T) | gnomAD v4 |
2 | g.135788010C= | CA1290821965 | LCT | c.*314G= (n.*314G=) | |
2 | g.135788010C>T | CA1290821966 | LCT | c.*314G>A (n.*314G>A) | dbSNP |
2 | g.135788011T>C | CA2752308156 | LCT | c.*313A>G (n.*313A>G) | |
2 | g.135788012G>A | CA2661271213 | LCT | c.*312C>T (n.*312C>T) | gnomAD v4 |
2 | g.135788016C>G | CA2661271214 | LCT | c.*308G>C (n.*308G>C) | gnomAD v4 |
2 | g.135788018T>C | CA2661271216 | LCT | c.*306A>G (n.*306A>G) | gnomAD v4 |
2 | g.135788020A>C | CA2661271218 | LCT | c.*304T>G (n.*304T>G) | gnomAD v4 |
2 | g.135788023C>T | CA2661271220 | LCT | c.*301G>A (n.*301G>A) | gnomAD v4 |
2 | g.135788025G>A | CA757453374 | LCT | c.*299C>T (n.*299C>T) | dbSNP |
2 | g.135788025G>C | CA56593554 | LCT | c.*299C>G (n.*299C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135788025G= | CA1290821967 | LCT | c.*299C= (n.*299C=) | |
2 | g.135788026C>T | CA2661271222 | LCT | c.*298G>A (n.*298G>A) | gnomAD v4 |
2 | g.135788027C>G | CA2752308157 | LCT | c.*297G>C (n.*297G>C) | |
2 | g.135788027C>T | CA2661271224 | LCT | c.*297G>A (n.*297G>A) | gnomAD v4 |
2 | g.135788028C>A | CA2661271225 | LCT | c.*296G>T (n.*296G>T) | gnomAD v4 |
2 | g.135788028C= | CA1290821968 | LCT | c.*296G= (n.*296G=) | |
2 | g.135788028C>T | CA757453377 | LCT | c.*296G>A (n.*296G>A) | dbSNP |
2 | g.135788029T>C | CA2661271227 | LCT | c.*295A>G (n.*295A>G) | gnomAD v4 |
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 |