Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47973113dup | CA2034470176 | COL2A1 | c.*298dup (n.*298dup) | dbSNP |
12 | g.47973113del | CA2618501523 | COL2A1 | c.*298del (n.*298del) | gnomAD v4 |
12 | g.47973112G>A | CA10637532 | COL2A1 | c.*295C>T (n.*295C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973112G>C | CA2581085758 | COL2A1 | c.*295C>G (n.*295C>G) | |
12 | g.47973112G= | CA2034470179 | COL2A1 | c.*295C= (n.*295C=) | |
12 | g.47973112G>T | CA2581085759 | COL2A1 | c.*295C>A (n.*295C>A) | |
12 | g.47973113G>A | CA2618501601 | COL2A1 | c.*294C>T (n.*294C>T) | gnomAD v4 |
12 | g.47973113G>T | CA2618501617 | COL2A1 | c.*294C>A (n.*294C>A) | gnomAD v4 |
12 | g.47973114C>A | CA2618501621 | COL2A1 | c.*293G>T (n.*293G>T) | gnomAD v4 |
12 | g.47973114C>T | CA2618501622 | COL2A1 | c.*293G>A (n.*293G>A) | gnomAD v4 |
12 | g.47973115A= | CA2034470182 | COL2A1 | c.*292T= (n.*292T=) | |
12 | g.47973115A>G | CA2618501626 | COL2A1 | c.*292T>C (n.*292T>C) | gnomAD v4 |
12 | g.47973115A>T | CA2034470183 | COL2A1 | c.*292T>A (n.*292T>A) | dbSNP |
12 | g.47973116G>A | CA2618501630 | COL2A1 | c.*291C>T (n.*291C>T) | gnomAD v4 |
12 | g.47973116G>T | CA2618501629 | COL2A1 | c.*291C>A (n.*291C>A) | gnomAD v4 |
12 | g.47973118C>A | CA2618501632 | COL2A1 | c.*289G>T (n.*289G>T) | gnomAD v4 |
12 | g.47973122C>A | CA2618501637 | COL2A1 | c.*285G>T (n.*285G>T) | gnomAD v4 |
12 | g.47973122C>T | CA2618501639 | COL2A1 | c.*285G>A (n.*285G>A) | gnomAD v4 |
12 | g.47973122_47973124delinsCAG | CA2034470186 | COL2A1 | c.*283_*285delinsCTG (n.*283_*285delinsCTG) | |
12 | g.47973123A>G | CA2618501646 | COL2A1 | c.*284T>C (n.*284T>C) | gnomAD v4 |
12 | g.47973123_47973124del | CA236515305 | COL2A1 | c.*283_*284del (n.*283_*284del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47973124G>A | CA2618501651 | COL2A1 | c.*283C>T (n.*283C>T) | gnomAD v4 |
12 | g.47973124G>T | CA2618501654 | COL2A1 | c.*283C>A (n.*283C>A) | gnomAD v4 |
12 | g.47973125G>A | CA2618501655 | COL2A1 | c.*282C>T (n.*282C>T) | gnomAD v4 |
12 | g.47973125G>T | CA2618501660 | COL2A1 | c.*282C>A (n.*282C>A) | gnomAD v4 |
12 | g.47973126G>A | CA2034470191 | COL2A1 | c.*281C>T (n.*281C>T) | dbSNP |
12 | g.47973126G>C | CA2618501662 | COL2A1 | c.*281C>G (n.*281C>G) | gnomAD v4 |
12 | g.47973126G= | CA2034470190 | COL2A1 | c.*281C= (n.*281C=) | |
12 | g.47973126G>T | CA2618501663 | COL2A1 | c.*281C>A (n.*281C>A) | gnomAD v4 |
12 | g.47973127G>A | CA2618501672 | COL2A1 | c.*280C>T (n.*280C>T) | gnomAD v4 |
12 | g.47973127G>T | CA2534953547 | COL2A1 | c.*280C>A (n.*280C>A) | gnomAD v4 |
12 | g.47973128G>A | CA2034470195 | COL2A1 | c.*279C>T (n.*279C>T) | dbSNP gnomAD v4 |
12 | g.47973128G>C | CA236515311 | COL2A1 | c.*279C>G (n.*279C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973128G= | CA2034470194 | COL2A1 | c.*279C= (n.*279C=) | |
12 | g.47973128G>T | CA2618501681 | COL2A1 | c.*279C>A (n.*279C>A) | gnomAD v4 |
12 | g.47973129C>A | CA2618501685 | COL2A1 | c.*278G>T (n.*278G>T) | gnomAD v4 |
12 | g.47973134G>T | CA2618501690 | COL2A1 | c.*273C>A (n.*273C>A) | gnomAD v4 |
12 | g.47973135A= | CA2034470198 | COL2A1 | c.*272T= (n.*272T=) | |
12 | g.47973135A>C | CA2034470199 | COL2A1 | c.*272T>G (n.*272T>G) | dbSNP |
12 | g.47973135A>G | CA236515313 | COL2A1 | c.*272T>C (n.*272T>C) | dbSNP |
12 | g.47973135A>T | CA2034470201 | COL2A1 | c.*272T>A (n.*272T>A) | dbSNP gnomAD v4 |
12 | g.47973136C>A | CA2505947858 | COL2A1 | c.*271G>T (n.*271G>T) | |
12 | g.47973136C= | CA2034470202 | COL2A1 | c.*271G= (n.*271G=) | |
12 | g.47973136C>T | CA2034470203 | COL2A1 | c.*271G>A (n.*271G>A) | dbSNP gnomAD v4 |
12 | g.47973136_47973158del | CA2618501693 | COL2A1 | c.*249_*271del (n.*249_*271del) | gnomAD v4 |
12 | g.47973137T>A | CA2618501697 | COL2A1 | c.*270A>T (n.*270A>T) | gnomAD v4 |
12 | g.47973137T>C | CA947350149 | COL2A1 | c.*270A>G (n.*270A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47973137T= | CA2034470205 | COL2A1 | c.*270A= (n.*270A=) | |
12 | g.47973138C>A | CA2618501704 | COL2A1 | c.*269G>T (n.*269G>T) | gnomAD v4 |
12 | g.47973141_47973142del | CA2618501702 | COL2A1 | c.*268_*269del (n.*268_*269del) | gnomAD v4 |