Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124397913C= | CA1942335613 | OAT | c.*29G= (n.*29G=) | |
10 | g.124397913C>G | CA933464585 | OAT | c.*29G>C (n.*29G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124397913C>T | CA2611307194 | OAT | c.*29G>A (n.*29G>A) | gnomAD v4 |
10 | g.124397914A= | CA1942335614 | OAT | c.*28T= (n.*28T=) | |
10 | g.124397914A>G | CA215241388 | OAT | c.*28T>C (n.*28T>C) | dbSNP gnomAD v4 |
10 | g.124397916G>A | CA2611307195 | OAT | c.*26C>T (n.*26C>T) | gnomAD v4 |
10 | g.124397917G>T | CA2611307196 | OAT | c.*25C>A (n.*25C>A) | gnomAD v4 |
10 | g.124397918A= | CA1942335615 | OAT | c.*24T= (n.*24T=) | |
10 | g.124397918A>G | CA661079689 | OAT | c.*24T>C (n.*24T>C) | dbSNP |
10 | g.124397920C>A | CA5733266 | OAT | c.*22G>T (n.*22G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124397920C= | CA1942335616 | OAT | c.*22G= (n.*22G=) | |
10 | g.124397920C>G | CA2611307197 | OAT | c.*22G>C (n.*22G>C) | gnomAD v4 |
10 | g.124397921A= | CA1942335617 | OAT | c.*21T= (n.*21T=) | |
10 | g.124397921A>C | CA5733267 | OAT | c.*21T>G (n.*21T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124397921A>G | CA661079693 | OAT | c.*21T>C (n.*21T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124397922C= | CA1942335618 | OAT | c.*20G= (n.*20G=) | |
10 | g.124397922C>G | CA215241418 | OAT | c.*20G>C (n.*20G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124397925_124397934del | CA2611307198 | OAT | c.*11_*20del (n.*11_*20del) | gnomAD v4 |
10 | g.124397924_124397925delinsGA | CA1942335619 | OAT | c.*17_*18delinsTC (n.*17_*18delinsTC) | |
10 | g.124397928del | CA933464602 | OAT | c.*17del (n.*17del) | dbSNP gnomAD v4 |
10 | g.124397929C= | CA1942335620 | OAT | c.*13G= (n.*13G=) | |
10 | g.124397929C>T | CA5733268 | OAT | c.*13G>A (n.*13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124397930A>G | CA2611307199 | OAT | c.*12T>C (n.*12T>C) | gnomAD v4 |
10 | g.124397931G>A | CA1942335622 | OAT | c.*11C>T (n.*11C>T) | dbSNP |
10 | g.124397931G= | CA1942335621 | OAT | c.*11C= (n.*11C=) | |
10 | g.124397933T>C | CA5733269 | OAT | c.*9A>G (n.*9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124397933T= | CA1942335623 | OAT | c.*9A= (n.*9A=) | |
10 | g.124397934G>A | CA2611307200 | OAT | c.*8C>T (n.*8C>T) | gnomAD v4 |
10 | g.124397934G>C | CA2611307201 | OAT | c.*8C>G (n.*8C>G) | gnomAD v4 |
10 | g.124397934G= | CA1942335624 | OAT | c.*8C= (n.*8C=) | |
10 | g.124397934G>T | CA596580028 | OAT | c.*8C>A (n.*8C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124397937T>C | CA596580029 | OAT | c.*5A>G (n.*5A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124397937T= | CA1942335625 | OAT | c.*5A= (n.*5A=) | |
10 | g.124397938A>G | CA2611307202 | OAT | c.*4T>C (n.*4T>C) | gnomAD v4 |
10 | g.124397939C>A | CA5733270 | OAT | c.*3G>T (n.*3G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124397939C= | CA1942335626 | OAT | c.*3G= (n.*3G=) | |
10 | g.124397939C>T | CA1942335627 | OAT | c.*3G>A (n.*3G>A) | dbSNP |
10 | g.124397940C= | CA1942335628 | OAT | c.*2G= (n.*2G=) | |
10 | g.124397940C>T | CA661079700 | OAT | c.*2G>A (n.*2G>A) | dbSNP |
10 | g.124397942T>A | CA378632952 | OAT | c.1320A>T (p.Ter440Cys) c.906A>T (p.Ter302Cys) c.999A>T (p.Ter333Cys) c.720A>T (p.Ter240Cys) | |
10 | g.124397942T>C | CA378632950 | OAT | c.1320A>G (p.Ter440Trp) c.906A>G (p.Ter302Trp) c.999A>G (p.Ter333Trp) c.720A>G (p.Ter240Trp) | ClinVar dbSNP |
10 | g.124397942T>G | CA378632951 | OAT | c.1320A>C (p.Ter440Cys) c.906A>C (p.Ter302Cys) c.999A>C (p.Ter333Cys) c.720A>C (p.Ter240Cys) | |
10 | g.124397943C>A | CA378632953 | OAT | c.1319G>T (p.Ter440Leu) c.905G>T (p.Ter302Leu) c.998G>T (p.Ter333Leu) c.719G>T (p.Ter240Leu) | |
10 | g.124397943C>G | CA378632954 | OAT | c.1319G>C (p.Ter440Ser) c.905G>C (p.Ter302Ser) c.998G>C (p.Ter333Ser) c.719G>C (p.Ter240Ser) | |
10 | g.124397943C>T | CA471762479 | OAT | c.1319G>A (p.Ter440=) c.905G>A (p.Ter302=) c.998G>A (p.Ter333=) c.719G>A (p.Ter240=) | |
10 | g.124397944A= | CA1942335629 | OAT | c.1318T= (p.Ter440=) c.904T= (p.Ter302=) c.997T= (p.Ter333=) c.718T= (p.Ter240=) | |
10 | g.124397944A>C | CA378632955 | OAT | c.1318T>G (p.Ter440Gly) c.904T>G (p.Ter302Gly) c.997T>G (p.Ter333Gly) c.718T>G (p.Ter240Gly) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124397944A>G | CA378632956 | OAT | c.1318T>C (p.Ter440Arg) c.904T>C (p.Ter302Arg) c.997T>C (p.Ter333Arg) c.718T>C (p.Ter240Arg) | |
10 | g.124397944A>T | CA378632957 | OAT | c.1318T>A (p.Ter440Arg) c.904T>A (p.Ter302Arg) c.997T>A (p.Ter333Arg) c.718T>A (p.Ter240Arg) | |
10 | g.124397945G>A | CA471762480 | OAT | c.1317C>T (p.Phe439=) c.903C>T (p.Phe301=) c.996C>T (p.Phe332=) c.717C>T (p.Phe239=) | gnomAD v4 |