Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214953833T>G | CA2701458245 | ABCA12,SNHG31 | c.6647+21A>C (n.6647+21A>C) c.5693+21A>C (n.5693+21A>C) n.6947+21A>C n.444+5886T>G c.6656+21A>C (n.6656+21A>C) n.7145+21A>C | dbSNP |
2 | g.214953835A>G | CA2662976200 | ABCA12,SNHG31 | c.6647+19T>C (n.6647+19T>C) c.5693+19T>C (n.5693+19T>C) n.6947+19T>C n.444+5888A>G c.6656+19T>C (n.6656+19T>C) n.7145+19T>C | gnomAD v4 |
2 | g.214953836del | CA2754209130 | ABCA12,SNHG31 | c.6647+18del (n.6647+18del) c.5693+18del (n.5693+18del) n.6947+18del n.444+5889del c.6656+18del (n.6656+18del) n.7145+18del | |
2 | g.214953836T>C | CA1042211606 | ABCA12,SNHG31 | c.6647+18A>G (n.6647+18A>G) c.5693+18A>G (n.5693+18A>G) n.6947+18A>G n.444+5889T>C c.6656+18A>G (n.6656+18A>G) n.7145+18A>G | dbSNP gnomAD v4 |
2 | g.214953836T= | CA1327150036 | ABCA12,SNHG31 | c.6647+18A= (n.6647+18A=) c.5693+18A= (n.5693+18A=) n.6947+18A= n.444+5889T= c.6656+18A= (n.6656+18A=) n.7145+18A= | |
2 | g.214953836_214953837delinsTG | CA1327150037 | ABCA12,SNHG31 | c.6647+17_6647+18delinsCA (n.6647+17_6647+18delinsCA) c.5693+17_5693+18delinsCA (n.5693+17_5693+18delinsCA) n.6947+17_6947+18delinsCA n.444+5889_444+5890delinsTG c.6656+17_6656+18delinsCA (n.6656+17_6656+18delinsCA) n.7145+17_7145+18delinsCA | |
2 | g.214953837del | CA1042211608 | ABCA12,SNHG31 | c.6647+17del (n.6647+17del) c.5693+17del (n.5693+17del) n.6947+17del n.444+5890del c.6656+17del (n.6656+17del) n.7145+17del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953837G>A | CA539531003 | ABCA12,SNHG31 | c.6647+17C>T (n.6647+17C>T) c.5693+17C>T (n.5693+17C>T) n.6947+17C>T n.444+5890G>A c.6656+17C>T (n.6656+17C>T) n.7145+17C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.214953837G= | CA1327150038 | ABCA12,SNHG31 | c.6647+17C= (n.6647+17C=) c.5693+17C= (n.5693+17C=) n.6947+17C= n.444+5890G= c.6656+17C= (n.6656+17C=) n.7145+17C= | |
2 | g.214953839T>G | CA2662976202 | ABCA12,SNHG31 | c.6647+15A>C (n.6647+15A>C) c.5693+15A>C (n.5693+15A>C) n.6947+15A>C n.444+5892T>G c.6656+15A>C (n.6656+15A>C) n.7145+15A>C | gnomAD v4 |
2 | g.214953841T>C | CA2739279951 | ABCA12,SNHG31 | c.6647+13A>G (n.6647+13A>G) c.5693+13A>G (n.5693+13A>G) n.6947+13A>G n.444+5894T>C c.6656+13A>G (n.6656+13A>G) n.7145+13A>G | ClinVar |
2 | g.214953843A= | CA1327150040 | ABCA12,SNHG31 | c.6647+11T= (n.6647+11T=) c.5693+11T= (n.5693+11T=) n.6947+11T= n.444+5896A= c.6656+11T= (n.6656+11T=) n.7145+11T= | |
2 | g.214953843A>G | CA1327150041 | ABCA12,SNHG31 | c.6647+11T>C (n.6647+11T>C) c.5693+11T>C (n.5693+11T>C) n.6947+11T>C n.444+5896A>G c.6656+11T>C (n.6656+11T>C) n.7145+11T>C | ClinVar dbSNP gnomAD v4 |
2 | g.214953843_214953849delinsATTATAT | CA1327150039 | ABCA12,SNHG31 | c.6647+5_6647+11delinsATATAAT (n.6647+5_6647+11delinsATATAAT) c.5693+5_5693+11delinsATATAAT (n.5693+5_5693+11delinsATATAAT) n.6947+5_6947+11delinsATATAAT n.444+5896_444+5902delinsATTATAT c.6656+5_6656+11delinsATATAAT (n.6656+5_6656+11delinsATATAAT) n.7145+5_7145+11delinsATATAAT | |
2 | g.214953847_214953852del | CA764607347 | ABCA12,SNHG31 | c.6647+5_6647+10del (n.6647+5_6647+10del) c.5693+5_5693+10del (n.5693+5_5693+10del) n.6947+5_6947+10del n.444+5900_444+5905del c.6656+5_6656+10del (n.6656+5_6656+10del) n.7145+5_7145+10del | dbSNP |
2 | g.214953846A= | CA1327150042 | ABCA12,SNHG31 | c.6647+8T= (n.6647+8T=) c.5693+8T= (n.5693+8T=) n.6947+8T= n.444+5899A= c.6656+8T= (n.6656+8T=) n.7145+8T= | |
2 | g.214953846A>C | CA1327150043 | ABCA12,SNHG31 | c.6647+8T>G (n.6647+8T>G) c.5693+8T>G (n.5693+8T>G) n.6947+8T>G n.444+5899A>C c.6656+8T>G (n.6656+8T>G) n.7145+8T>G | dbSNP |
2 | g.214953846A>G | CA2090865 | ABCA12,SNHG31 | c.6647+8T>C (n.6647+8T>C) c.5693+8T>C (n.5693+8T>C) n.6947+8T>C n.444+5899A>G c.6656+8T>C (n.6656+8T>C) n.7145+8T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214953847T>C | CA2662976203 | ABCA12,SNHG31 | c.6647+7A>G (n.6647+7A>G) c.5693+7A>G (n.5693+7A>G) n.6947+7A>G n.444+5900T>C c.6656+7A>G (n.6656+7A>G) n.7145+7A>G | gnomAD v4 |
2 | g.214953850T>G | CA539531004 | ABCA12,SNHG31 | c.6647+4A>C (n.6647+4A>C) c.5693+4A>C (n.5693+4A>C) n.6947+4A>C n.444+5903T>G c.6656+4A>C (n.6656+4A>C) n.7145+4A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214953850T= | CA1327150044 | ABCA12,SNHG31 | c.6647+4A= (n.6647+4A=) c.5693+4A= (n.5693+4A=) n.6947+4A= n.444+5903T= c.6656+4A= (n.6656+4A=) n.7145+4A= | |
2 | g.214953851T>C | CA2577234621 | ABCA12,SNHG31 | c.6647+3A>G (n.6647+3A>G) c.5693+3A>G (n.5693+3A>G) n.6947+3A>G n.444+5904T>C c.6656+3A>G (n.6656+3A>G) n.7145+3A>G | gnomAD v4 |
2 | g.214953852A>C | CA350445954 | ABCA12,SNHG31 | c.6647+2T>G (n.6647+2T>G) c.5693+2T>G (n.5693+2T>G) n.6947+2T>G n.444+5905A>C c.6656+2T>G (n.6656+2T>G) n.7145+2T>G | |
2 | g.214953852A>G | CA350445955 | ABCA12,SNHG31 | c.6647+2T>C (n.6647+2T>C) c.5693+2T>C (n.5693+2T>C) n.6947+2T>C n.444+5905A>G c.6656+2T>C (n.6656+2T>C) n.7145+2T>C | |
2 | g.214953852A>T | CA350445956 | ABCA12,SNHG31 | c.6647+2T>A (n.6647+2T>A) c.5693+2T>A (n.5693+2T>A) n.6947+2T>A n.444+5905A>T c.6656+2T>A (n.6656+2T>A) n.7145+2T>A | |
2 | g.214953853C>A | CA350445957 | ABCA12,SNHG31 | c.6647+1G>T (n.6647+1G>T) c.5693+1G>T (n.5693+1G>T) n.6947+1G>T n.444+5906C>A c.6656+1G>T (n.6656+1G>T) n.7145+1G>T | |
2 | g.214953853C>G | CA350445959 | ABCA12,SNHG31 | c.6647+1G>C (n.6647+1G>C) c.5693+1G>C (n.5693+1G>C) n.6947+1G>C n.444+5906C>G c.6656+1G>C (n.6656+1G>C) n.7145+1G>C | |
2 | g.214953853C>T | CA350445958 | ABCA12,SNHG31 | c.6647+1G>A (n.6647+1G>A) c.5693+1G>A (n.5693+1G>A) n.6947+1G>A n.444+5906C>T c.6656+1G>A (n.6656+1G>A) n.7145+1G>A | gnomAD v4 |
2 | g.214953854C>A | CA350445960 | ABCA12,SNHG31 | c.6647G>T (p.Arg2216Met) c.5693G>T (p.Arg1898Met) n.6947G>T n.444+5907C>A c.6656G>T (p.Arg2219Met) n.7145G>T | |
2 | g.214953854C>G | CA350445961 | ABCA12,SNHG31 | c.6647G>C (p.Arg2216Thr) c.5693G>C (p.Arg1898Thr) n.6947G>C n.444+5907C>G c.6656G>C (p.Arg2219Thr) n.7145G>C | |
2 | g.214953854C>T | CA350445962 | ABCA12,SNHG31 | c.6647G>A (p.Arg2216Lys) c.5693G>A (p.Arg1898Lys) n.6947G>A n.444+5907C>T c.6656G>A (p.Arg2219Lys) n.7145G>A | |
2 | g.214953855T>A | CA350445963 | ABCA12,SNHG31 | c.6646A>T (p.Arg2216Trp) c.5692A>T (p.Arg1898Trp) n.6946A>T n.444+5908T>A c.6655A>T (p.Arg2219Trp) n.7144A>T | |
2 | g.214953855T>C | CA2090866 | ABCA12,SNHG31 | c.6646A>G (p.Arg2216Gly) c.5692A>G (p.Arg1898Gly) n.6946A>G n.444+5908T>C c.6655A>G (p.Arg2219Gly) n.7144A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214953855T>G | CA431125703 | ABCA12,SNHG31 | c.6646A>C (p.Arg2216=) c.5692A>C (p.Arg1898=) n.6946A>C n.444+5908T>G c.6655A>C (p.Arg2219=) n.7144A>C | |
2 | g.214953855T= | CA1327150045 | ABCA12,SNHG31 | c.6646A= (p.Arg2216=) c.5692A= (p.Arg1898=) n.6946A= n.444+5908T= c.6655A= (p.Arg2219=) n.7144A= | |
2 | g.214953856G>A | CA431125706 | ABCA12,SNHG31 | c.6645C>T (p.Leu2215=) c.5691C>T (p.Leu1897=) n.6945C>T n.444+5909G>A c.6654C>T (p.Leu2218=) n.7143C>T | COSMIC COSMIC |
2 | g.214953856G>C | CA431125704 | ABCA12,SNHG31 | c.6645C>G (p.Leu2215=) c.5691C>G (p.Leu1897=) n.6945C>G n.444+5909G>C c.6654C>G (p.Leu2218=) n.7143C>G | |
2 | g.214953856G>T | CA431125705 | ABCA12,SNHG31 | c.6645C>A (p.Leu2215=) c.5691C>A (p.Leu1897=) n.6945C>A n.444+5909G>T c.6654C>A (p.Leu2218=) n.7143C>A | |
2 | g.214953857_214953858del | CA2739279952 | ABCA12,SNHG31 | c.6644_6645del (p.Leu2215GlnfsTer8) c.5690_5691del (p.Leu1897GlnfsTer8) n.6944_6945del n.444+5910_444+5911del c.6653_6654del (p.Leu2218GlnfsTer8) n.7142_7143del | ClinVar |
2 | g.214953857A>C | CA350445964 | ABCA12,SNHG31 | c.6644T>G (p.Leu2215Arg) c.5690T>G (p.Leu1897Arg) n.6944T>G n.444+5910A>C c.6653T>G (p.Leu2218Arg) n.7142T>G | gnomAD v4 |
2 | g.214953857A>G | CA350445965 | ABCA12,SNHG31 | c.6644T>C (p.Leu2215Pro) c.5690T>C (p.Leu1897Pro) n.6944T>C n.444+5910A>G c.6653T>C (p.Leu2218Pro) n.7142T>C | |
2 | g.214953857A>T | CA350445966 | ABCA12,SNHG31 | c.6644T>A (p.Leu2215His) c.5690T>A (p.Leu1897His) n.6944T>A n.444+5910A>T c.6653T>A (p.Leu2218His) n.7142T>A | |
2 | g.214953858G>A | CA350445967 | ABCA12,SNHG31 | c.6643C>T (p.Leu2215Phe) c.5689C>T (p.Leu1897Phe) n.6943C>T n.444+5911G>A c.6652C>T (p.Leu2218Phe) n.7141C>T | |
2 | g.214953858G>C | CA350445968 | ABCA12,SNHG31 | c.6643C>G (p.Leu2215Val) c.5689C>G (p.Leu1897Val) n.6943C>G n.444+5911G>C c.6652C>G (p.Leu2218Val) n.7141C>G | |
2 | g.214953858G>T | CA350445969 | ABCA12,SNHG31 | c.6643C>A (p.Leu2215Ile) c.5689C>A (p.Leu1897Ile) n.6943C>A n.444+5911G>T c.6652C>A (p.Leu2218Ile) n.7141C>A | |
2 | g.214953859T>A | CA350445970 | ABCA12,SNHG31 | c.6642A>T (p.Lys2214Asn) c.5688A>T (p.Lys1896Asn) n.6942A>T n.444+5912T>A c.6651A>T (p.Lys2217Asn) n.7140A>T | |
2 | g.214953859T>C | CA431387822 | ABCA12,SNHG31 | c.6642A>G (p.Lys2214=) c.5688A>G (p.Lys1896=) n.6942A>G n.444+5912T>C c.6651A>G (p.Lys2217=) n.7140A>G | COSMIC COSMIC |
2 | g.214953859T>G | CA350445971 | ABCA12,SNHG31 | c.6642A>C (p.Lys2214Asn) c.5688A>C (p.Lys1896Asn) n.6942A>C n.444+5912T>G c.6651A>C (p.Lys2217Asn) n.7140A>C | |
2 | g.214953862_214953865del | CA2586971268 | ABCA12,SNHG31 | c.6639_6642del (p.Lys2213AsnfsTer14) c.5685_5688del (p.Lys1895AsnfsTer14) n.6939_6942del n.444+5915_444+5918del c.6648_6651del (p.Lys2216AsnfsTer14) n.7137_7140del | |
2 | g.214953860T>A | CA350445972 | ABCA12,SNHG31 | c.6641A>T (p.Lys2214Ile) c.5687A>T (p.Lys1896Ile) n.6941A>T n.444+5913T>A c.6650A>T (p.Lys2217Ile) n.7139A>T | |
2 | g.214953860T>C | CA350445974 | ABCA12,SNHG31 | c.6641A>G (p.Lys2214Arg) c.5687A>G (p.Lys1896Arg) n.6941A>G n.444+5913T>C c.6650A>G (p.Lys2217Arg) n.7139A>G | |
2 | g.214953860T>G | CA350445973 | ABCA12,SNHG31 | c.6641A>C (p.Lys2214Thr) c.5687A>C (p.Lys1896Thr) n.6941A>C n.444+5913T>G c.6650A>C (p.Lys2217Thr) n.7139A>C | |
2 | g.214953861T>A | CA350445975 | ABCA12,SNHG31 | c.6640A>T (p.Lys2214Ter) c.5686A>T (p.Lys1896Ter) n.6940A>T n.444+5914T>A c.6649A>T (p.Lys2217Ter) n.7138A>T | |
2 | g.214953861T>C | CA350445976 | ABCA12,SNHG31 | c.6640A>G (p.Lys2214Glu) c.5686A>G (p.Lys1896Glu) n.6940A>G n.444+5914T>C c.6649A>G (p.Lys2217Glu) n.7138A>G | COSMIC COSMIC |
2 | g.214953861T>G | CA350445977 | ABCA12,SNHG31 | c.6640A>C (p.Lys2214Gln) c.5686A>C (p.Lys1896Gln) n.6940A>C n.444+5914T>G c.6649A>C (p.Lys2217Gln) n.7138A>C | |
2 | g.214953862C>A | CA350445978 | ABCA12,SNHG31 | c.6639G>T (p.Lys2213Asn) c.5685G>T (p.Lys1895Asn) n.6939G>T n.444+5915C>A c.6648G>T (p.Lys2216Asn) n.7137G>T | COSMIC COSMIC |
2 | g.214953862C= | CA1327150046 | ABCA12,SNHG31 | c.6639G= (p.Lys2213=) c.5685G= (p.Lys1895=) n.6939G= n.444+5915C= c.6648G= (p.Lys2216=) n.7137G= | |
2 | g.214953862C>G | CA350445979 | ABCA12,SNHG31 | c.6639G>C (p.Lys2213Asn) c.5685G>C (p.Lys1895Asn) n.6939G>C n.444+5915C>G c.6648G>C (p.Lys2216Asn) n.7137G>C | |
2 | g.214953862C>T | CA431387828 | ABCA12,SNHG31 | c.6639G>A (p.Lys2213=) c.5685G>A (p.Lys1895=) n.6939G>A n.444+5915C>T c.6648G>A (p.Lys2216=) n.7137G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214953863T>A | CA350445980 | ABCA12,SNHG31 | c.6638A>T (p.Lys2213Met) c.5684A>T (p.Lys1895Met) n.6938A>T n.444+5916T>A c.6647A>T (p.Lys2216Met) n.7136A>T | |
2 | g.214953863T>C | CA350445981 | ABCA12,SNHG31 | c.6638A>G (p.Lys2213Arg) c.5684A>G (p.Lys1895Arg) n.6938A>G n.444+5916T>C c.6647A>G (p.Lys2216Arg) n.7136A>G | |
2 | g.214953863T>G | CA350445982 | ABCA12,SNHG31 | c.6638A>C (p.Lys2213Thr) c.5684A>C (p.Lys1895Thr) n.6938A>C n.444+5916T>G c.6647A>C (p.Lys2216Thr) n.7136A>C | dbSNP |
2 | g.214953863T= | CA1327150047 | ABCA12,SNHG31 | c.6638A= (p.Lys2213=) c.5684A= (p.Lys1895=) n.6938A= n.444+5916T= c.6647A= (p.Lys2216=) n.7136A= | |
2 | g.214953864T>A | CA350445983 | ABCA12,SNHG31 | c.6637A>T (p.Lys2213Ter) c.5683A>T (p.Lys1895Ter) n.6937A>T n.444+5917T>A c.6646A>T (p.Lys2216Ter) n.7135A>T | |
2 | g.214953864T>C | CA350445984 | ABCA12,SNHG31 | c.6637A>G (p.Lys2213Glu) c.5683A>G (p.Lys1895Glu) n.6937A>G n.444+5917T>C c.6646A>G (p.Lys2216Glu) n.7135A>G | |
2 | g.214953864T>G | CA350445985 | ABCA12,SNHG31 | c.6637A>C (p.Lys2213Gln) c.5683A>C (p.Lys1895Gln) n.6937A>C n.444+5917T>G c.6646A>C (p.Lys2216Gln) n.7135A>C | |
2 | g.214953865T>A | CA431387836 | ABCA12,SNHG31 | c.6636A>T (p.Ile2212=) c.5682A>T (p.Ile1894=) n.6936A>T n.444+5918T>A c.6645A>T (p.Ile2215=) n.7134A>T | |
2 | g.214953865T>C | CA350445986 | ABCA12,SNHG31 | c.6636A>G (p.Ile2212Met) c.5682A>G (p.Ile1894Met) n.6936A>G n.444+5918T>C c.6645A>G (p.Ile2215Met) n.7134A>G | |
2 | g.214953865T>G | CA431387839 | ABCA12,SNHG31 | c.6636A>C (p.Ile2212=) c.5682A>C (p.Ile1894=) n.6936A>C n.444+5918T>G c.6645A>C (p.Ile2215=) n.7134A>C | |
2 | g.214953866A>C | CA350445988 | ABCA12,SNHG31 | c.6635T>G (p.Ile2212Arg) c.5681T>G (p.Ile1894Arg) n.6935T>G n.444+5919A>C c.6644T>G (p.Ile2215Arg) n.7133T>G | |
2 | g.214953866A>G | CA350445987 | ABCA12,SNHG31 | c.6635T>C (p.Ile2212Thr) c.5681T>C (p.Ile1894Thr) n.6935T>C n.444+5919A>G c.6644T>C (p.Ile2215Thr) n.7133T>C | |
2 | g.214953866A>T | CA350445989 | ABCA12,SNHG31 | c.6635T>A (p.Ile2212Lys) c.5681T>A (p.Ile1894Lys) n.6935T>A n.444+5919A>T c.6644T>A (p.Ile2215Lys) n.7133T>A | |
2 | g.214953867T>A | CA350445990 | ABCA12,SNHG31 | c.6634A>T (p.Ile2212Leu) c.5680A>T (p.Ile1894Leu) n.6934A>T n.444+5920T>A c.6643A>T (p.Ile2215Leu) n.7132A>T | gnomAD v4 |
2 | g.214953867T>C | CA350445992 | ABCA12,SNHG31 | c.6634A>G (p.Ile2212Val) c.5680A>G (p.Ile1894Val) n.6934A>G n.444+5920T>C c.6643A>G (p.Ile2215Val) n.7132A>G | |
2 | g.214953867T>G | CA350445991 | ABCA12,SNHG31 | c.6634A>C (p.Ile2212Leu) c.5680A>C (p.Ile1894Leu) n.6934A>C n.444+5920T>G c.6643A>C (p.Ile2215Leu) n.7132A>C | |
2 | g.214953868C>A | CA431387849 | ABCA12,SNHG31 | c.6633G>T (p.Leu2211=) c.5679G>T (p.Leu1893=) n.6933G>T n.444+5921C>A c.6642G>T (p.Leu2214=) n.7131G>T | |
2 | g.214953868C>G | CA431387850 | ABCA12,SNHG31 | c.6633G>C (p.Leu2211=) c.5679G>C (p.Leu1893=) n.6933G>C n.444+5921C>G c.6642G>C (p.Leu2214=) n.7131G>C | COSMIC COSMIC |
2 | g.214953868C>T | CA431387851 | ABCA12,SNHG31 | c.6633G>A (p.Leu2211=) c.5679G>A (p.Leu1893=) n.6933G>A n.444+5921C>T c.6642G>A (p.Leu2214=) n.7131G>A | |
2 | g.214953869A>C | CA350445993 | ABCA12,SNHG31 | c.6632T>G (p.Leu2211Arg) c.5678T>G (p.Leu1893Arg) n.6932T>G n.444+5922A>C c.6641T>G (p.Leu2214Arg) n.7130T>G | |
2 | g.214953869A>G | CA350445994 | ABCA12,SNHG31 | c.6632T>C (p.Leu2211Pro) c.5678T>C (p.Leu1893Pro) n.6932T>C n.444+5922A>G c.6641T>C (p.Leu2214Pro) n.7130T>C | gnomAD v4 |
2 | g.214953869A>T | CA350445995 | ABCA12,SNHG31 | c.6632T>A (p.Leu2211Gln) c.5678T>A (p.Leu1893Gln) n.6932T>A n.444+5922A>T c.6641T>A (p.Leu2214Gln) n.7130T>A | |
2 | g.214953870G>A | CA431387858 | ABCA12,SNHG31 | c.6631C>T (p.Leu2211=) c.5677C>T (p.Leu1893=) n.6931C>T n.444+5923G>A c.6640C>T (p.Leu2214=) n.7129C>T | gnomAD v4 |
2 | g.214953870G>C | CA350445996 | ABCA12,SNHG31 | c.6631C>G (p.Leu2211Val) c.5677C>G (p.Leu1893Val) n.6931C>G n.444+5923G>C c.6640C>G (p.Leu2214Val) n.7129C>G | |
2 | g.214953870G>T | CA350445997 | ABCA12,SNHG31 | c.6631C>A (p.Leu2211Met) c.5677C>A (p.Leu1893Met) n.6931C>A n.444+5923G>T c.6640C>A (p.Leu2214Met) n.7129C>A | |
2 | g.214953871G>A | CA431387869 | ABCA12,SNHG31 | c.6630C>T (p.Ser2210=) c.5676C>T (p.Ser1892=) n.6930C>T n.444+5924G>A c.6639C>T (p.Ser2213=) n.7128C>T | gnomAD v4 |
2 | g.214953871G>C | CA431387870 | ABCA12,SNHG31 | c.6630C>G (p.Ser2210=) c.5676C>G (p.Ser1892=) n.6930C>G n.444+5924G>C c.6639C>G (p.Ser2213=) n.7128C>G | |
2 | g.214953871G>T | CA431387873 | ABCA12,SNHG31 | c.6630C>A (p.Ser2210=) c.5676C>A (p.Ser1892=) n.6930C>A n.444+5924G>T c.6639C>A (p.Ser2213=) n.7128C>A | |
2 | g.214953872G>A | CA350445998 | ABCA12,SNHG31 | c.6629C>T (p.Ser2210Phe) c.5675C>T (p.Ser1892Phe) n.6929C>T n.444+5925G>A c.6638C>T (p.Ser2213Phe) n.7127C>T | gnomAD v4 COSMIC COSMIC |
2 | g.214953872G>C | CA350445999 | ABCA12,SNHG31 | c.6629C>G (p.Ser2210Cys) c.5675C>G (p.Ser1892Cys) n.6929C>G n.444+5925G>C c.6638C>G (p.Ser2213Cys) n.7127C>G | |
2 | g.214953872G>T | CA350446000 | ABCA12,SNHG31 | c.6629C>A (p.Ser2210Tyr) c.5675C>A (p.Ser1892Tyr) n.6929C>A n.444+5925G>T c.6638C>A (p.Ser2213Tyr) n.7127C>A | gnomAD v4 |
2 | g.214953873A>C | CA350446001 | ABCA12,SNHG31 | c.6628T>G (p.Ser2210Ala) c.5674T>G (p.Ser1892Ala) n.6928T>G n.444+5926A>C c.6637T>G (p.Ser2213Ala) n.7126T>G | |
2 | g.214953873A>G | CA350446002 | ABCA12,SNHG31 | c.6628T>C (p.Ser2210Pro) c.5674T>C (p.Ser1892Pro) n.6928T>C n.444+5926A>G c.6637T>C (p.Ser2213Pro) n.7126T>C | |
2 | g.214953873A>T | CA350446003 | ABCA12,SNHG31 | c.6628T>A (p.Ser2210Thr) c.5674T>A (p.Ser1892Thr) n.6928T>A n.444+5926A>T c.6637T>A (p.Ser2213Thr) n.7126T>A | |
2 | g.214953873_214953874delinsAT | CA1327150048 | ABCA12,SNHG31 | c.6627_6628delinsAT (p.Glu2209=) c.5673_5674delinsAT (p.Glu1891=) n.6927_6928delinsAT n.444+5926_444+5927delinsAT c.6636_6637delinsAT (p.Glu2212=) n.7125_7126delinsAT | |
2 | g.214953874T>A | CA350446004 | ABCA12,SNHG31 | c.6627A>T (p.Glu2209Asp) c.5673A>T (p.Glu1891Asp) n.6927A>T n.444+5927T>A c.6636A>T (p.Glu2212Asp) n.7125A>T | |
2 | g.214953874T>C | CA431387891 | ABCA12,SNHG31 | c.6627A>G (p.Glu2209=) c.5673A>G (p.Glu1891=) n.6927A>G n.444+5927T>C c.6636A>G (p.Glu2212=) n.7125A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214953874T>G | CA350446005 | ABCA12,SNHG31 | c.6627A>C (p.Glu2209Asp) c.5673A>C (p.Glu1891Asp) n.6927A>C n.444+5927T>G c.6636A>C (p.Glu2212Asp) n.7125A>C | |
2 | g.214953874T= | CA1327150050 | ABCA12,SNHG31 | c.6627A= (p.Glu2209=) c.5673A= (p.Glu1891=) n.6927A= n.444+5927T= c.6636A= (p.Glu2212=) n.7125A= | |
2 | g.214953875del | CA1327150049 | ABCA12,SNHG31 | c.6627del (p.Glu2209AspfsTer3) c.5673del (p.Glu1891AspfsTer3) n.6927del n.444+5928del c.6636del (p.Glu2212AspfsTer3) n.7125del | dbSNP gnomAD v4 |
2 | g.214953875T>A | CA2090867 | ABCA12,SNHG31 | c.6626A>T (p.Glu2209Val) c.5672A>T (p.Glu1891Val) n.6926A>T n.444+5928T>A c.6635A>T (p.Glu2212Val) n.7124A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214953875T>C | CA350446007 | ABCA12,SNHG31 | c.6626A>G (p.Glu2209Gly) c.5672A>G (p.Glu1891Gly) n.6926A>G n.444+5928T>C c.6635A>G (p.Glu2212Gly) n.7124A>G | |
2 | g.214953875T>G | CA350446006 | ABCA12,SNHG31 | c.6626A>C (p.Glu2209Ala) c.5672A>C (p.Glu1891Ala) n.6926A>C n.444+5928T>G c.6635A>C (p.Glu2212Ala) n.7124A>C | |
2 | g.214953875T= | CA1327150051 | ABCA12,SNHG31 | c.6626A= (p.Glu2209=) c.5672A= (p.Glu1891=) n.6926A= n.444+5928T= c.6635A= (p.Glu2212=) n.7124A= | |
2 | g.214953876C>A | CA350446008 | ABCA12,SNHG31 | c.6625G>T (p.Glu2209Ter) c.5671G>T (p.Glu1891Ter) n.6925G>T n.444+5929C>A c.6634G>T (p.Glu2212Ter) n.7123G>T | |
2 | g.214953876C= | CA1327150052 | ABCA12,SNHG31 | c.6625G= (p.Glu2209=) c.5671G= (p.Glu1891=) n.6925G= n.444+5929C= c.6634G= (p.Glu2212=) n.7123G= | |
2 | g.214953876C>G | CA2090869 | ABCA12,SNHG31 | c.6625G>C (p.Glu2209Gln) c.5671G>C (p.Glu1891Gln) n.6925G>C n.444+5929C>G c.6634G>C (p.Glu2212Gln) n.7123G>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.214953876C>T | CA2090868 | ABCA12,SNHG31 | c.6625G>A (p.Glu2209Lys) c.5671G>A (p.Glu1891Lys) n.6925G>A n.444+5929C>T c.6634G>A (p.Glu2212Lys) n.7123G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214953877G>A | CA2090870 | ABCA12,SNHG31 | c.6624C>T (p.Asn2208=) c.5670C>T (p.Asn1890=) n.6924C>T n.444+5930G>A c.6633C>T (p.Asn2211=) n.7122C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953877G>C | CA350446009 | ABCA12,SNHG31 | c.6624C>G (p.Asn2208Lys) c.5670C>G (p.Asn1890Lys) n.6924C>G n.444+5930G>C c.6633C>G (p.Asn2211Lys) n.7122C>G | |
2 | g.214953877G= | CA1327150053 | ABCA12,SNHG31 | c.6624C= (p.Asn2208=) c.5670C= (p.Asn1890=) n.6924C= n.444+5930G= c.6633C= (p.Asn2211=) n.7122C= | |
2 | g.214953877G>T | CA350446010 | ABCA12,SNHG31 | c.6624C>A (p.Asn2208Lys) c.5670C>A (p.Asn1890Lys) n.6924C>A n.444+5930G>T c.6633C>A (p.Asn2211Lys) n.7122C>A | |
2 | g.214953877_214953881delinsGTTGA | CA1327150054 | ABCA12,SNHG31 | c.6620_6624delinsTCAAC (p.Ile2207=) c.5666_5670delinsTCAAC (p.Ile1889=) n.6920_6924delinsTCAAC n.444+5930_444+5934delinsGTTGA c.6629_6633delinsTCAAC (p.Ile2210=) n.7118_7122delinsTCAAC | |
2 | g.214953878T>A | CA2090871 | ABCA12,SNHG31 | c.6623A>T (p.Asn2208Ile) c.5669A>T (p.Asn1890Ile) n.6923A>T n.444+5931T>A c.6632A>T (p.Asn2211Ile) n.7121A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214953878T>C | CA350446011 | ABCA12,SNHG31 | c.6623A>G (p.Asn2208Ser) c.5669A>G (p.Asn1890Ser) n.6923A>G n.444+5931T>C c.6632A>G (p.Asn2211Ser) n.7121A>G | gnomAD v4 |
2 | g.214953878T>G | CA350446012 | ABCA12,SNHG31 | c.6623A>C (p.Asn2208Thr) c.5669A>C (p.Asn1890Thr) n.6923A>C n.444+5931T>G c.6632A>C (p.Asn2211Thr) n.7121A>C | |
2 | g.214953878T= | CA1327150056 | ABCA12,SNHG31 | c.6623A= (p.Asn2208=) c.5669A= (p.Asn1890=) n.6923A= n.444+5931T= c.6632A= (p.Asn2211=) n.7121A= | |
2 | g.214953880_214953883del | CA1327150055 | ABCA12,SNHG31 | c.6620_6623del (p.Ile2207ThrfsTer4) c.5666_5669del (p.Ile1889ThrfsTer4) n.6920_6923del n.444+5933_444+5936del c.6629_6632del (p.Ile2210ThrfsTer4) n.7118_7121del | dbSNP |
2 | g.214953879T>A | CA350446013 | ABCA12,SNHG31 | c.6622A>T (p.Asn2208Tyr) c.5668A>T (p.Asn1890Tyr) n.6922A>T n.444+5932T>A c.6631A>T (p.Asn2211Tyr) n.7120A>T | |
2 | g.214953879T>C | CA350446014 | ABCA12,SNHG31 | c.6622A>G (p.Asn2208Asp) c.5668A>G (p.Asn1890Asp) n.6922A>G n.444+5932T>C c.6631A>G (p.Asn2211Asp) n.7120A>G | COSMIC COSMIC |
2 | g.214953879T>G | CA350446015 | ABCA12,SNHG31 | c.6622A>C (p.Asn2208His) c.5668A>C (p.Asn1890His) n.6922A>C n.444+5932T>G c.6631A>C (p.Asn2211His) n.7120A>C | gnomAD v4 |
2 | g.214953880G>A | CA431387929 | ABCA12,SNHG31 | c.6621C>T (p.Ile2207=) c.5667C>T (p.Ile1889=) n.6921C>T n.444+5933G>A c.6630C>T (p.Ile2210=) n.7119C>T | ClinVar dbSNP gnomAD v4 |
2 | g.214953880G>C | CA350446016 | ABCA12,SNHG31 | c.6621C>G (p.Ile2207Met) c.5667C>G (p.Ile1889Met) n.6921C>G n.444+5933G>C c.6630C>G (p.Ile2210Met) n.7119C>G | |
2 | g.214953880G= | CA1327150057 | ABCA12,SNHG31 | c.6621C= (p.Ile2207=) c.5667C= (p.Ile1889=) n.6921C= n.444+5933G= c.6630C= (p.Ile2210=) n.7119C= | |
2 | g.214953880G>T | CA431387931 | ABCA12,SNHG31 | c.6621C>A (p.Ile2207=) c.5667C>A (p.Ile1889=) n.6921C>A n.444+5933G>T c.6630C>A (p.Ile2210=) n.7119C>A | |
2 | g.214953881A>C | CA350446018 | ABCA12,SNHG31 | c.6620T>G (p.Ile2207Ser) c.5666T>G (p.Ile1889Ser) n.6920T>G n.444+5934A>C c.6629T>G (p.Ile2210Ser) n.7118T>G | |
2 | g.214953881A>G | CA350446019 | ABCA12,SNHG31 | c.6620T>C (p.Ile2207Thr) c.5666T>C (p.Ile1889Thr) n.6920T>C n.444+5934A>G c.6629T>C (p.Ile2210Thr) n.7118T>C | |
2 | g.214953881A>T | CA350446017 | ABCA12,SNHG31 | c.6620T>A (p.Ile2207Asn) c.5666T>A (p.Ile1889Asn) n.6920T>A n.444+5934A>T c.6629T>A (p.Ile2210Asn) n.7118T>A | |
2 | g.214953882T>A | CA350446020 | ABCA12,SNHG31 | c.6619A>T (p.Ile2207Phe) c.5665A>T (p.Ile1889Phe) n.6919A>T n.444+5935T>A c.6628A>T (p.Ile2210Phe) n.7117A>T | gnomAD v4 |
2 | g.214953882T>C | CA350446021 | ABCA12,SNHG31 | c.6619A>G (p.Ile2207Val) c.5665A>G (p.Ile1889Val) n.6919A>G n.444+5935T>C c.6628A>G (p.Ile2210Val) n.7117A>G | |
2 | g.214953882T>G | CA350446022 | ABCA12,SNHG31 | c.6619A>C (p.Ile2207Leu) c.5665A>C (p.Ile1889Leu) n.6919A>C n.444+5935T>G c.6628A>C (p.Ile2210Leu) n.7117A>C | gnomAD v4 |
2 | g.214953883T>A | CA350446023 | ABCA12,SNHG31 | c.6618A>T (p.Leu2206Phe) c.5664A>T (p.Leu1888Phe) n.6918A>T n.444+5936T>A c.6627A>T (p.Leu2209Phe) n.7116A>T | |
2 | g.214953883T>C | CA2090872 | ABCA12,SNHG31 | c.6618A>G (p.Leu2206=) c.5664A>G (p.Leu1888=) n.6918A>G n.444+5936T>C c.6627A>G (p.Leu2209=) n.7116A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953883T>G | CA350446024 | ABCA12,SNHG31 | c.6618A>C (p.Leu2206Phe) c.5664A>C (p.Leu1888Phe) n.6918A>C n.444+5936T>G c.6627A>C (p.Leu2209Phe) n.7116A>C | |
2 | g.214953883T= | CA1327150058 | ABCA12,SNHG31 | c.6618A= (p.Leu2206=) c.5664A= (p.Leu1888=) n.6918A= n.444+5936T= c.6627A= (p.Leu2209=) n.7116A= | |
2 | g.214953884A>C | CA350446025 | ABCA12,SNHG31 | c.6617T>G (p.Leu2206Ter) c.5663T>G (p.Leu1888Ter) n.6917T>G n.444+5937A>C c.6626T>G (p.Leu2209Ter) n.7115T>G | |
2 | g.214953884A>G | CA350446026 | ABCA12,SNHG31 | c.6617T>C (p.Leu2206Ser) c.5663T>C (p.Leu1888Ser) n.6917T>C n.444+5937A>G c.6626T>C (p.Leu2209Ser) n.7115T>C | |
2 | g.214953884A>T | CA350446027 | ABCA12,SNHG31 | c.6617T>A (p.Leu2206Ter) c.5663T>A (p.Leu1888Ter) n.6917T>A n.444+5937A>T c.6626T>A (p.Leu2209Ter) n.7115T>A | |
2 | g.214953885A= | CA1327150059 | ABCA12,SNHG31 | c.6616T= (p.Leu2206=) c.5662T= (p.Leu1888=) n.6916T= n.444+5938A= c.6625T= (p.Leu2209=) n.7114T= | |
2 | g.214953885A>C | CA350446028 | ABCA12,SNHG31 | c.6616T>G (p.Leu2206Val) c.5662T>G (p.Leu1888Val) n.6916T>G n.444+5938A>C c.6625T>G (p.Leu2209Val) n.7114T>G | |
2 | g.214953885A>G | CA431387951 | ABCA12,SNHG31 | c.6616T>C (p.Leu2206=) c.5662T>C (p.Leu1888=) n.6916T>C n.444+5938A>G c.6625T>C (p.Leu2209=) n.7114T>C | gnomAD v4 |
2 | g.214953885A>T | CA64797488 | ABCA12,SNHG31 | c.6616T>A (p.Leu2206Ile) c.5662T>A (p.Leu1888Ile) n.6916T>A n.444+5938A>T c.6625T>A (p.Leu2209Ile) n.7114T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953886G>A | CA431387955 | ABCA12,SNHG31 | c.6615C>T (p.Leu2205=) c.5661C>T (p.Leu1887=) n.6915C>T n.444+5939G>A c.6624C>T (p.Leu2208=) n.7113C>T | |
2 | g.214953886G>C | CA431387956 | ABCA12,SNHG31 | c.6615C>G (p.Leu2205=) c.5661C>G (p.Leu1887=) n.6915C>G n.444+5939G>C c.6624C>G (p.Leu2208=) n.7113C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953886G= | CA1327150060 | ABCA12,SNHG31 | c.6615C= (p.Leu2205=) c.5661C= (p.Leu1887=) n.6915C= n.444+5939G= c.6624C= (p.Leu2208=) n.7113C= | |
2 | g.214953886G>T | CA431387958 | ABCA12,SNHG31 | c.6615C>A (p.Leu2205=) c.5661C>A (p.Leu1887=) n.6915C>A n.444+5939G>T c.6624C>A (p.Leu2208=) n.7113C>A | |
2 | g.214953887A>C | CA350446031 | ABCA12,SNHG31 | c.6614T>G (p.Leu2205Arg) c.5660T>G (p.Leu1887Arg) n.6914T>G n.444+5940A>C c.6623T>G (p.Leu2208Arg) n.7112T>G | |
2 | g.214953887A>G | CA350446030 | ABCA12,SNHG31 | c.6614T>C (p.Leu2205Pro) c.5660T>C (p.Leu1887Pro) n.6914T>C n.444+5940A>G c.6623T>C (p.Leu2208Pro) n.7112T>C | |
2 | g.214953887A>T | CA350446029 | ABCA12,SNHG31 | c.6614T>A (p.Leu2205His) c.5660T>A (p.Leu1887His) n.6914T>A n.444+5940A>T c.6623T>A (p.Leu2208His) n.7112T>A | |
2 | g.214953888G>A | CA350446032 | ABCA12,SNHG31 | c.6613C>T (p.Leu2205Phe) c.5659C>T (p.Leu1887Phe) n.6913C>T n.444+5941G>A c.6622C>T (p.Leu2208Phe) n.7111C>T | |
2 | g.214953888G>C | CA350446033 | ABCA12,SNHG31 | c.6613C>G (p.Leu2205Val) c.5659C>G (p.Leu1887Val) n.6913C>G n.444+5941G>C c.6622C>G (p.Leu2208Val) n.7111C>G | |
2 | g.214953888G>T | CA350446034 | ABCA12,SNHG31 | c.6613C>A (p.Leu2205Ile) c.5659C>A (p.Leu1887Ile) n.6913C>A n.444+5941G>T c.6622C>A (p.Leu2208Ile) n.7111C>A | |
2 | g.214953889T>A | CA431387970 | ABCA12,SNHG31 | c.6612A>T (p.Arg2204=) c.5658A>T (p.Arg1886=) n.6912A>T n.444+5942T>A c.6621A>T (p.Arg2207=) n.7110A>T | gnomAD v4 |
2 | g.214953889T>C | CA431387974 | ABCA12,SNHG31 | c.6612A>G (p.Arg2204=) c.5658A>G (p.Arg1886=) n.6912A>G n.444+5942T>C c.6621A>G (p.Arg2207=) n.7110A>G | |
2 | g.214953889T>G | CA431387975 | ABCA12,SNHG31 | c.6612A>C (p.Arg2204=) c.5658A>C (p.Arg1886=) n.6912A>C n.444+5942T>G c.6621A>C (p.Arg2207=) n.7110A>C | |
2 | g.214953890C>A | CA350446035 | ABCA12,SNHG31 | c.6611G>T (p.Arg2204Leu) c.5657G>T (p.Arg1886Leu) n.6911G>T n.444+5943C>A c.6620G>T (p.Arg2207Leu) n.7109G>T | dbSNP gnomAD v2 |
2 | g.214953890C= | CA1327150061 | ABCA12,SNHG31 | c.6611G= (p.Arg2204=) c.5657G= (p.Arg1886=) n.6911G= n.444+5943C= c.6620G= (p.Arg2207=) n.7109G= | |
2 | g.214953890C>G | CA350446036 | ABCA12,SNHG31 | c.6611G>C (p.Arg2204Pro) c.5657G>C (p.Arg1886Pro) n.6911G>C n.444+5943C>G c.6620G>C (p.Arg2207Pro) n.7109G>C | |
2 | g.214953890C>T | CA2090873 | ABCA12,SNHG31 | c.6611G>A (p.Arg2204Gln) c.5657G>A (p.Arg1886Gln) n.6911G>A n.444+5943C>T c.6620G>A (p.Arg2207Gln) n.7109G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953891G>A | CA252483 | ABCA12,SNHG31 | c.6610C>T (p.Arg2204Ter) c.5656C>T (p.Arg1886Ter) n.6910C>T n.444+5944G>A c.6619C>T (p.Arg2207Ter) n.7108C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.214953891G>C | CA350446037 | ABCA12,SNHG31 | c.6610C>G (p.Arg2204Gly) c.5656C>G (p.Arg1886Gly) n.6910C>G n.444+5944G>C c.6619C>G (p.Arg2207Gly) n.7108C>G | |
2 | g.214953891G= | CA1327150062 | ABCA12,SNHG31 | c.6610C= (p.Arg2204=) c.5656C= (p.Arg1886=) n.6910C= n.444+5944G= c.6619C= (p.Arg2207=) n.7108C= | |
2 | g.214953891G>T | CA431387979 | ABCA12,SNHG31 | c.6610C>A (p.Arg2204=) c.5656C>A (p.Arg1886=) n.6910C>A n.444+5944G>T c.6619C>A (p.Arg2207=) n.7108C>A | ClinVar dbSNP gnomAD v4 |
2 | g.214953892C>A | CA350446038 | ABCA12,SNHG31 | c.6609G>T (p.Leu2203Phe) c.5655G>T (p.Leu1885Phe) n.6909G>T n.444+5945C>A c.6618G>T (p.Leu2206Phe) n.7107G>T | gnomAD v4 |
2 | g.214953892C>G | CA350446039 | ABCA12,SNHG31 | c.6609G>C (p.Leu2203Phe) c.5655G>C (p.Leu1885Phe) n.6909G>C n.444+5945C>G c.6618G>C (p.Leu2206Phe) n.7107G>C | |
2 | g.214953892C>T | CA431387981 | ABCA12,SNHG31 | c.6609G>A (p.Leu2203=) c.5655G>A (p.Leu1885=) n.6909G>A n.444+5945C>T c.6618G>A (p.Leu2206=) n.7107G>A | ClinVar gnomAD v4 |
2 | g.214953893A>C | CA350446040 | ABCA12,SNHG31 | c.6608T>G (p.Leu2203Trp) c.5654T>G (p.Leu1885Trp) n.6908T>G n.444+5946A>C c.6617T>G (p.Leu2206Trp) n.7106T>G | |
2 | g.214953893A>G | CA350446041 | ABCA12,SNHG31 | c.6608T>C (p.Leu2203Ser) c.5654T>C (p.Leu1885Ser) n.6908T>C n.444+5946A>G c.6617T>C (p.Leu2206Ser) n.7106T>C | |
2 | g.214953893A>T | CA350446042 | ABCA12,SNHG31 | c.6608T>A (p.Leu2203Ter) c.5654T>A (p.Leu1885Ter) n.6908T>A n.444+5946A>T c.6617T>A (p.Leu2206Ter) n.7106T>A | |
2 | g.214953894A>C | CA350446044 | ABCA12,SNHG31 | c.6607T>G (p.Leu2203Val) c.5653T>G (p.Leu1885Val) n.6907T>G n.444+5947A>C c.6616T>G (p.Leu2206Val) n.7105T>G | |
2 | g.214953894A>G | CA431387983 | ABCA12,SNHG31 | c.6607T>C (p.Leu2203=) c.5653T>C (p.Leu1885=) n.6907T>C n.444+5947A>G c.6616T>C (p.Leu2206=) n.7105T>C | |
2 | g.214953894A>T | CA350446043 | ABCA12,SNHG31 | c.6607T>A (p.Leu2203Met) c.5653T>A (p.Leu1885Met) n.6907T>A n.444+5947A>T c.6616T>A (p.Leu2206Met) n.7105T>A | |
2 | g.214953895G>A | CA431387986 | ABCA12,SNHG31 | c.6606C>T (p.Ser2202=) c.5652C>T (p.Ser1884=) n.6906C>T n.444+5948G>A c.6615C>T (p.Ser2205=) n.7104C>T | |
2 | g.214953895G>C | CA431387987 | ABCA12,SNHG31 | c.6606C>G (p.Ser2202=) c.5652C>G (p.Ser1884=) n.6906C>G n.444+5948G>C c.6615C>G (p.Ser2205=) n.7104C>G | |
2 | g.214953895G>T | CA431387989 | ABCA12,SNHG31 | c.6606C>A (p.Ser2202=) c.5652C>A (p.Ser1884=) n.6906C>A n.444+5948G>T c.6615C>A (p.Ser2205=) n.7104C>A | |
2 | g.214953896dup | CA2662976204 | ABCA12,SNHG31 | c.6606dup (p.Arg2204AlafsTer20) c.5652dup (p.Arg1886AlafsTer20) n.6906dup n.444+5949dup c.6615dup (p.Arg2207AlafsTer20) n.7104dup | gnomAD v4 |
2 | g.214953895_214953896insA | CA645535908 | ABCA12,SNHG31 | c.6605_6606insT (p.Arg2204AlafsTer20) c.5651_5652insT (p.Arg1886AlafsTer20) n.6905_6906insT n.444+5948_444+5949insA c.6614_6615insT (p.Arg2207AlafsTer20) n.7103_7104insT | COSMIC COSMIC |
2 | g.214953896G>A | CA350446045 | ABCA12,SNHG31 | c.6605C>T (p.Ser2202Phe) c.5651C>T (p.Ser1884Phe) n.6905C>T n.444+5949G>A c.6614C>T (p.Ser2205Phe) n.7103C>T | gnomAD v4 COSMIC COSMIC |
2 | g.214953896G>C | CA350446046 | ABCA12,SNHG31 | c.6605C>G (p.Ser2202Cys) c.5651C>G (p.Ser1884Cys) n.6905C>G n.444+5949G>C c.6614C>G (p.Ser2205Cys) n.7103C>G | |
2 | g.214953896G>T | CA350446047 | ABCA12,SNHG31 | c.6605C>A (p.Ser2202Tyr) c.5651C>A (p.Ser1884Tyr) n.6905C>A n.444+5949G>T c.6614C>A (p.Ser2205Tyr) n.7103C>A | |
2 | g.214953897A= | CA1327150063 | ABCA12,SNHG31 | c.6604T= (p.Ser2202=) c.5650T= (p.Ser1884=) n.6904T= n.444+5950A= c.6613T= (p.Ser2205=) n.7102T= | |
2 | g.214953897A>C | CA350446048 | ABCA12,SNHG31 | c.6604T>G (p.Ser2202Ala) c.5650T>G (p.Ser1884Ala) n.6904T>G n.444+5950A>C c.6613T>G (p.Ser2205Ala) n.7102T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953897A>G | CA2090874 | ABCA12,SNHG31 | c.6604T>C (p.Ser2202Pro) c.5650T>C (p.Ser1884Pro) n.6904T>C n.444+5950A>G c.6613T>C (p.Ser2205Pro) n.7102T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214953897A>T | CA350446049 | ABCA12,SNHG31 | c.6604T>A (p.Ser2202Thr) c.5650T>A (p.Ser1884Thr) n.6904T>A n.444+5950A>T c.6613T>A (p.Ser2205Thr) n.7102T>A | |
2 | g.214953903dup | CA2662976205 | ABCA12,SNHG31 | c.6604dup (p.Ser2202PhefsTer22) c.5650dup (p.Ser1884PhefsTer22) n.6904dup n.444+5956dup c.6613dup (p.Ser2205PhefsTer22) n.7102dup | gnomAD v4 |
2 | g.214953903del | CA2662976206 | ABCA12,SNHG31 | c.6604del (p.Ser2202ProfsTer5) c.5650del (p.Ser1884ProfsTer5) n.6904del n.444+5956del c.6613del (p.Ser2205ProfsTer5) n.7102del | gnomAD v4 |
2 | g.214953898A= | CA1327150064 | ABCA12,SNHG31 | c.6603T= (p.Phe2201=) c.5649T= (p.Phe1883=) n.6903T= n.444+5951A= c.6612T= (p.Phe2204=) n.7101T= | |
2 | g.214953898A>C | CA350446050 | ABCA12,SNHG31 | c.6603T>G (p.Phe2201Leu) c.5649T>G (p.Phe1883Leu) n.6903T>G n.444+5951A>C c.6612T>G (p.Phe2204Leu) n.7101T>G | |
2 | g.214953898A>G | CA431387992 | ABCA12,SNHG31 | c.6603T>C (p.Phe2201=) c.5649T>C (p.Phe1883=) n.6903T>C n.444+5951A>G c.6612T>C (p.Phe2204=) n.7101T>C | |
2 | g.214953898A>T | CA350446051 | ABCA12,SNHG31 | c.6603T>A (p.Phe2201Leu) c.5649T>A (p.Phe1883Leu) n.6903T>A n.444+5951A>T c.6612T>A (p.Phe2204Leu) n.7101T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214953899A>C | CA350446052 | ABCA12,SNHG31 | c.6602T>G (p.Phe2201Cys) c.5648T>G (p.Phe1883Cys) n.6902T>G n.444+5952A>C c.6611T>G (p.Phe2204Cys) n.7100T>G | |
2 | g.214953899A>G | CA350446054 | ABCA12,SNHG31 | c.6602T>C (p.Phe2201Ser) c.5648T>C (p.Phe1883Ser) n.6902T>C n.444+5952A>G c.6611T>C (p.Phe2204Ser) n.7100T>C | gnomAD v4 |
2 | g.214953899A>T | CA350446053 | ABCA12,SNHG31 | c.6602T>A (p.Phe2201Tyr) c.5648T>A (p.Phe1883Tyr) n.6902T>A n.444+5952A>T c.6611T>A (p.Phe2204Tyr) n.7100T>A | |
2 | g.214953900A= | CA1327150065 | ABCA12,SNHG31 | c.6601T= (p.Phe2201=) c.5647T= (p.Phe1883=) n.6901T= n.444+5953A= c.6610T= (p.Phe2204=) n.7099T= | |
2 | g.214953900A>C | CA350446055 | ABCA12,SNHG31 | c.6601T>G (p.Phe2201Val) c.5647T>G (p.Phe1883Val) n.6901T>G n.444+5953A>C c.6610T>G (p.Phe2204Val) n.7099T>G | |
2 | g.214953900A>G | CA350446056 | ABCA12,SNHG31 | c.6601T>C (p.Phe2201Leu) c.5647T>C (p.Phe1883Leu) n.6901T>C n.444+5953A>G c.6610T>C (p.Phe2204Leu) n.7099T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953900A>T | CA2090875 | ABCA12,SNHG31 | c.6601T>A (p.Phe2201Ile) c.5647T>A (p.Phe1883Ile) n.6901T>A n.444+5953A>T c.6610T>A (p.Phe2204Ile) n.7099T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953901A= | CA1327150066 | ABCA12,SNHG31 | c.6600T= (p.Phe2200=) c.5646T= (p.Phe1882=) n.6900T= n.444+5954A= c.6609T= (p.Phe2203=) n.7098T= | |
2 | g.214953901A>C | CA350446057 | ABCA12,SNHG31 | c.6600T>G (p.Phe2200Leu) c.5646T>G (p.Phe1882Leu) n.6900T>G n.444+5954A>C c.6609T>G (p.Phe2203Leu) n.7098T>G | dbSNP |
2 | g.214953901A>G | CA431387997 | ABCA12,SNHG31 | c.6600T>C (p.Phe2200=) c.5646T>C (p.Phe1882=) n.6900T>C n.444+5954A>G c.6609T>C (p.Phe2203=) n.7098T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953901A>T | CA350446058 | ABCA12,SNHG31 | c.6600T>A (p.Phe2200Leu) c.5646T>A (p.Phe1882Leu) n.6900T>A n.444+5954A>T c.6609T>A (p.Phe2203Leu) n.7098T>A | gnomAD v4 |
2 | g.214953902A= | CA1327150067 | ABCA12,SNHG31 | c.6599T= (p.Phe2200=) c.5645T= (p.Phe1882=) n.6899T= n.444+5955A= c.6608T= (p.Phe2203=) n.7097T= | |
2 | g.214953902A>C | CA350446059 | ABCA12,SNHG31 | c.6599T>G (p.Phe2200Cys) c.5645T>G (p.Phe1882Cys) n.6899T>G n.444+5955A>C c.6608T>G (p.Phe2203Cys) n.7097T>G | |
2 | g.214953902A>G | CA350446061 | ABCA12,SNHG31 | c.6599T>C (p.Phe2200Ser) c.5645T>C (p.Phe1882Ser) n.6899T>C n.444+5955A>G c.6608T>C (p.Phe2203Ser) n.7097T>C | dbSNP |
2 | g.214953902A>T | CA350446060 | ABCA12,SNHG31 | c.6599T>A (p.Phe2200Tyr) c.5645T>A (p.Phe1882Tyr) n.6899T>A n.444+5955A>T c.6608T>A (p.Phe2203Tyr) n.7097T>A | |
2 | g.214953903A>C | CA350446062 | ABCA12,SNHG31 | c.6598T>G (p.Phe2200Val) c.5644T>G (p.Phe1882Val) n.6898T>G n.444+5956A>C c.6607T>G (p.Phe2203Val) n.7096T>G | |
2 | g.214953903A>G | CA350446063 | ABCA12,SNHG31 | c.6598T>C (p.Phe2200Leu) c.5644T>C (p.Phe1882Leu) n.6898T>C n.444+5956A>G c.6607T>C (p.Phe2203Leu) n.7096T>C | gnomAD v4 |
2 | g.214953903A>T | CA350446064 | ABCA12,SNHG31 | c.6598T>A (p.Phe2200Ile) c.5644T>A (p.Phe1882Ile) n.6898T>A n.444+5956A>T c.6607T>A (p.Phe2203Ile) n.7096T>A | |
2 | g.214953904C>A | CA350446065 | ABCA12,SNHG31 | c.6597G>T (p.Met2199Ile) c.5643G>T (p.Met1881Ile) n.6897G>T n.444+5957C>A c.6606G>T (p.Met2202Ile) n.7095G>T | |
2 | g.214953904C>G | CA350446066 | ABCA12,SNHG31 | c.6597G>C (p.Met2199Ile) c.5643G>C (p.Met1881Ile) n.6897G>C n.444+5957C>G c.6606G>C (p.Met2202Ile) n.7095G>C | |
2 | g.214953904C>T | CA350446067 | ABCA12,SNHG31 | c.6597G>A (p.Met2199Ile) c.5643G>A (p.Met1881Ile) n.6897G>A n.444+5957C>T c.6606G>A (p.Met2202Ile) n.7095G>A | gnomAD v4 |
2 | g.214953905A= | CA1327150068 | ABCA12,SNHG31 | c.6596T= (p.Met2199=) c.5642T= (p.Met1881=) n.6896T= n.444+5958A= c.6605T= (p.Met2202=) n.7094T= | |
2 | g.214953905A>C | CA350446068 | ABCA12,SNHG31 | c.6596T>G (p.Met2199Arg) c.5642T>G (p.Met1881Arg) n.6896T>G n.444+5958A>C c.6605T>G (p.Met2202Arg) n.7094T>G | |
2 | g.214953905A>G | CA350446069 | ABCA12,SNHG31 | c.6596T>C (p.Met2199Thr) c.5642T>C (p.Met1881Thr) n.6896T>C n.444+5958A>G c.6605T>C (p.Met2202Thr) n.7094T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953905A>T | CA350446070 | ABCA12,SNHG31 | c.6596T>A (p.Met2199Lys) c.5642T>A (p.Met1881Lys) n.6896T>A n.444+5958A>T c.6605T>A (p.Met2202Lys) n.7094T>A | |
2 | g.214953906T>A | CA350446071 | ABCA12,SNHG31 | c.6595A>T (p.Met2199Leu) c.5641A>T (p.Met1881Leu) n.6895A>T n.444+5959T>A c.6604A>T (p.Met2202Leu) n.7093A>T | |
2 | g.214953906T>C | CA350446072 | ABCA12,SNHG31 | c.6595A>G (p.Met2199Val) c.5641A>G (p.Met1881Val) n.6895A>G n.444+5959T>C c.6604A>G (p.Met2202Val) n.7093A>G | |
2 | g.214953906T>G | CA350446073 | ABCA12,SNHG31 | c.6595A>C (p.Met2199Leu) c.5641A>C (p.Met1881Leu) n.6895A>C n.444+5959T>G c.6604A>C (p.Met2202Leu) n.7093A>C | |
2 | g.214953907G>A | CA431388004 | ABCA12,SNHG31 | c.6594C>T (p.Thr2198=) c.5640C>T (p.Thr1880=) n.6894C>T n.444+5960G>A c.6603C>T (p.Thr2201=) n.7092C>T | |
2 | g.214953907G>C | CA431388005 | ABCA12,SNHG31 | c.6594C>G (p.Thr2198=) c.5640C>G (p.Thr1880=) n.6894C>G n.444+5960G>C c.6603C>G (p.Thr2201=) n.7092C>G | |
2 | g.214953907G>T | CA431388006 | ABCA12,SNHG31 | c.6594C>A (p.Thr2198=) c.5640C>A (p.Thr1880=) n.6894C>A n.444+5960G>T c.6603C>A (p.Thr2201=) n.7092C>A | |
2 | g.214953908G>A | CA64797529 | ABCA12,SNHG31 | c.6593C>T (p.Thr2198Ile) c.5639C>T (p.Thr1880Ile) n.6893C>T n.444+5961G>A c.6602C>T (p.Thr2201Ile) n.7091C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953908G>C | CA2090876 | ABCA12,SNHG31 | c.6593C>G (p.Thr2198Ser) c.5639C>G (p.Thr1880Ser) n.6893C>G n.444+5961G>C c.6602C>G (p.Thr2201Ser) n.7091C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.214953908G= | CA1327150069 | ABCA12,SNHG31 | c.6593C= (p.Thr2198=) c.5639C= (p.Thr1880=) n.6893C= n.444+5961G= c.6602C= (p.Thr2201=) n.7091C= | |
2 | g.214953908G>T | CA350446074 | ABCA12,SNHG31 | c.6593C>A (p.Thr2198Asn) c.5639C>A (p.Thr1880Asn) n.6893C>A n.444+5961G>T c.6602C>A (p.Thr2201Asn) n.7091C>A | |
2 | g.214953909T>A | CA350446075 | ABCA12,SNHG31 | c.6592A>T (p.Thr2198Ser) c.5638A>T (p.Thr1880Ser) n.6892A>T n.444+5962T>A c.6601A>T (p.Thr2201Ser) n.7090A>T | |
2 | g.214953909T>C | CA350446076 | ABCA12,SNHG31 | c.6592A>G (p.Thr2198Ala) c.5638A>G (p.Thr1880Ala) n.6892A>G n.444+5962T>C c.6601A>G (p.Thr2201Ala) n.7090A>G | |
2 | g.214953909T>G | CA350446077 | ABCA12,SNHG31 | c.6592A>C (p.Thr2198Pro) c.5638A>C (p.Thr1880Pro) n.6892A>C n.444+5962T>G c.6601A>C (p.Thr2201Pro) n.7090A>C | |
2 | g.214953910G>A | CA431388008 | ABCA12,SNHG31 | c.6591C>T (p.Gly2197=) c.5637C>T (p.Gly1879=) n.6891C>T n.444+5963G>A c.6600C>T (p.Gly2200=) n.7089C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953910G>C | CA431388009 | ABCA12,SNHG31 | c.6591C>G (p.Gly2197=) c.5637C>G (p.Gly1879=) n.6891C>G n.444+5963G>C c.6600C>G (p.Gly2200=) n.7089C>G | |
2 | g.214953910G= | CA1327150070 | ABCA12,SNHG31 | c.6591C= (p.Gly2197=) c.5637C= (p.Gly1879=) n.6891C= n.444+5963G= c.6600C= (p.Gly2200=) n.7089C= | |
2 | g.214953910G>T | CA431388011 | ABCA12,SNHG31 | c.6591C>A (p.Gly2197=) c.5637C>A (p.Gly1879=) n.6891C>A n.444+5963G>T c.6600C>A (p.Gly2200=) n.7089C>A | |
2 | g.214953911C>A | CA350446078 | ABCA12,SNHG31 | c.6590G>T (p.Gly2197Val) c.5636G>T (p.Gly1879Val) n.6890G>T n.444+5964C>A c.6599G>T (p.Gly2200Val) n.7088G>T | |
2 | g.214953911C= | CA1327150071 | ABCA12,SNHG31 | c.6590G= (p.Gly2197=) c.5636G= (p.Gly1879=) n.6890G= n.444+5964C= c.6599G= (p.Gly2200=) n.7088G= | |
2 | g.214953911C>G | CA350446079 | ABCA12,SNHG31 | c.6590G>C (p.Gly2197Ala) c.5636G>C (p.Gly1879Ala) n.6890G>C n.444+5964C>G c.6599G>C (p.Gly2200Ala) n.7088G>C | |
2 | g.214953911C>T | CA350446080 | ABCA12,SNHG31 | c.6590G>A (p.Gly2197Asp) c.5636G>A (p.Gly1879Asp) n.6890G>A n.444+5964C>T c.6599G>A (p.Gly2200Asp) n.7088G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953913del | CA2662976207 | ABCA12,SNHG31 | c.6590del (p.Gly2197AlafsTer10) c.5636del (p.Gly1879AlafsTer10) n.6890del n.444+5966del c.6599del (p.Gly2200AlafsTer10) n.7088del | gnomAD v4 |
2 | g.214953912C>A | CA350446081 | ABCA12,SNHG31 | c.6589G>T (p.Gly2197Cys) c.5635G>T (p.Gly1879Cys) n.6889G>T n.444+5965C>A c.6598G>T (p.Gly2200Cys) n.7087G>T | |
2 | g.214953912C= | CA1327150072 | ABCA12,SNHG31 | c.6589G= (p.Gly2197=) c.5635G= (p.Gly1879=) n.6889G= n.444+5965C= c.6598G= (p.Gly2200=) n.7087G= | |
2 | g.214953912C>G | CA350446082 | ABCA12,SNHG31 | c.6589G>C (p.Gly2197Arg) c.5635G>C (p.Gly1879Arg) n.6889G>C n.444+5965C>G c.6598G>C (p.Gly2200Arg) n.7087G>C | gnomAD v4 |
2 | g.214953912C>T | CA350446083 | ABCA12,SNHG31 | c.6589G>A (p.Gly2197Ser) c.5635G>A (p.Gly1879Ser) n.6889G>A n.444+5965C>T c.6598G>A (p.Gly2200Ser) n.7087G>A | dbSNP |
2 | g.214953913C>A | CA350446084 | ABCA12,SNHG31 | c.6588G>T (p.Gln2196His) c.5634G>T (p.Gln1878His) n.6888G>T n.444+5966C>A c.6597G>T (p.Gln2199His) n.7086G>T | |
2 | g.214953913C= | CA1327150073 | ABCA12,SNHG31 | c.6588G= (p.Gln2196=) c.5634G= (p.Gln1878=) n.6888G= n.444+5966C= c.6597G= (p.Gln2199=) n.7086G= | |
2 | g.214953913C>G | CA350446085 | ABCA12,SNHG31 | c.6588G>C (p.Gln2196His) c.5634G>C (p.Gln1878His) n.6888G>C n.444+5966C>G c.6597G>C (p.Gln2199His) n.7086G>C | |
2 | g.214953913C>T | CA2090877 | ABCA12,SNHG31 | c.6588G>A (p.Gln2196=) c.5634G>A (p.Gln1878=) n.6888G>A n.444+5966C>T c.6597G>A (p.Gln2199=) n.7086G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214953914T>A | CA350446088 | ABCA12,SNHG31 | c.6587A>T (p.Gln2196Leu) c.5633A>T (p.Gln1878Leu) n.6887A>T n.444+5967T>A c.6596A>T (p.Gln2199Leu) n.7085A>T | |
2 | g.214953914T>C | CA350446087 | ABCA12,SNHG31 | c.6587A>G (p.Gln2196Arg) c.5633A>G (p.Gln1878Arg) n.6887A>G n.444+5967T>C c.6596A>G (p.Gln2199Arg) n.7085A>G | |
2 | g.214953914T>G | CA350446086 | ABCA12,SNHG31 | c.6587A>C (p.Gln2196Pro) c.5633A>C (p.Gln1878Pro) n.6887A>C n.444+5967T>G c.6596A>C (p.Gln2199Pro) n.7085A>C | |
2 | g.214953915G>A | CA350446089 | ABCA12,SNHG31 | c.6586C>T (p.Gln2196Ter) c.5632C>T (p.Gln1878Ter) n.6886C>T n.444+5968G>A c.6595C>T (p.Gln2199Ter) n.7084C>T | |
2 | g.214953915G>C | CA350446090 | ABCA12,SNHG31 | c.6586C>G (p.Gln2196Glu) c.5632C>G (p.Gln1878Glu) n.6886C>G n.444+5968G>C c.6595C>G (p.Gln2199Glu) n.7084C>G | |
2 | g.214953915G>T | CA350446091 | ABCA12,SNHG31 | c.6586C>A (p.Gln2196Lys) c.5632C>A (p.Gln1878Lys) n.6886C>A n.444+5968G>T c.6595C>A (p.Gln2199Lys) n.7084C>A | |
2 | g.214953916A>C | CA431388019 | ABCA12,SNHG31 | c.6585T>G (p.Ser2195=) c.5631T>G (p.Ser1877=) n.6885T>G n.444+5969A>C c.6594T>G (p.Ser2198=) n.7083T>G | |
2 | g.214953916A>G | CA431388020 | ABCA12,SNHG31 | c.6585T>C (p.Ser2195=) c.5631T>C (p.Ser1877=) n.6885T>C n.444+5969A>G c.6594T>C (p.Ser2198=) n.7083T>C | |
2 | g.214953916A>T | CA431388021 | ABCA12,SNHG31 | c.6585T>A (p.Ser2195=) c.5631T>A (p.Ser1877=) n.6885T>A n.444+5969A>T c.6594T>A (p.Ser2198=) n.7083T>A | |
2 | g.214953917G>A | CA350446092 | ABCA12,SNHG31 | c.6584C>T (p.Ser2195Phe) c.5630C>T (p.Ser1877Phe) n.6884C>T n.444+5970G>A c.6593C>T (p.Ser2198Phe) n.7082C>T | gnomAD v4 |
2 | g.214953917G>C | CA350446093 | ABCA12,SNHG31 | c.6584C>G (p.Ser2195Cys) c.5630C>G (p.Ser1877Cys) n.6884C>G n.444+5970G>C c.6593C>G (p.Ser2198Cys) n.7082C>G | |
2 | g.214953917G>T | CA350446094 | ABCA12,SNHG31 | c.6584C>A (p.Ser2195Tyr) c.5630C>A (p.Ser1877Tyr) n.6884C>A n.444+5970G>T c.6593C>A (p.Ser2198Tyr) n.7082C>A | gnomAD v4 |
2 | g.214953918A>C | CA350446095 | ABCA12,SNHG31 | c.6583T>G (p.Ser2195Ala) c.5629T>G (p.Ser1877Ala) n.6883T>G n.444+5971A>C c.6592T>G (p.Ser2198Ala) n.7081T>G | |
2 | g.214953918A>G | CA350446096 | ABCA12,SNHG31 | c.6583T>C (p.Ser2195Pro) c.5629T>C (p.Ser1877Pro) n.6883T>C n.444+5971A>G c.6592T>C (p.Ser2198Pro) n.7081T>C | |
2 | g.214953918A>T | CA350446097 | ABCA12,SNHG31 | c.6583T>A (p.Ser2195Thr) c.5629T>A (p.Ser1877Thr) n.6883T>A n.444+5971A>T c.6592T>A (p.Ser2198Thr) n.7081T>A | |
2 | g.214953919A>C | CA431388026 | ABCA12,SNHG31 | c.6582T>G (p.Val2194=) c.5628T>G (p.Val1876=) n.6882T>G n.444+5972A>C c.6591T>G (p.Val2197=) n.7080T>G | |
2 | g.214953919A>G | CA431388028 | ABCA12,SNHG31 | c.6582T>C (p.Val2194=) c.5628T>C (p.Val1876=) n.6882T>C n.444+5972A>G c.6591T>C (p.Val2197=) n.7080T>C | |
2 | g.214953919A>T | CA431388030 | ABCA12,SNHG31 | c.6582T>A (p.Val2194=) c.5628T>A (p.Val1876=) n.6882T>A n.444+5972A>T c.6591T>A (p.Val2197=) n.7080T>A | |
2 | g.214953920A>C | CA350446098 | ABCA12,SNHG31 | c.6581T>G (p.Val2194Gly) c.5627T>G (p.Val1876Gly) n.6881T>G n.444+5973A>C c.6590T>G (p.Val2197Gly) n.7079T>G | |
2 | g.214953920A>G | CA350446099 | ABCA12,SNHG31 | c.6581T>C (p.Val2194Ala) c.5627T>C (p.Val1876Ala) n.6881T>C n.444+5973A>G c.6590T>C (p.Val2197Ala) n.7079T>C | gnomAD v4 |
2 | g.214953920A>T | CA350446100 | ABCA12,SNHG31 | c.6581T>A (p.Val2194Asp) c.5627T>A (p.Val1876Asp) n.6881T>A n.444+5973A>T c.6590T>A (p.Val2197Asp) n.7079T>A | |
2 | g.214953921C>A | CA2090878 | ABCA12,SNHG31 | c.6580G>T (p.Val2194Phe) c.5626G>T (p.Val1876Phe) n.6880G>T n.444+5974C>A c.6589G>T (p.Val2197Phe) n.7078G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214953921C= | CA1327150074 | ABCA12,SNHG31 | c.6580G= (p.Val2194=) c.5626G= (p.Val1876=) n.6880G= n.444+5974C= c.6589G= (p.Val2197=) n.7078G= | |
2 | g.214953921C>G | CA350446102 | ABCA12,SNHG31 | c.6580G>C (p.Val2194Leu) c.5626G>C (p.Val1876Leu) n.6880G>C n.444+5974C>G c.6589G>C (p.Val2197Leu) n.7078G>C | |
2 | g.214953921C>T | CA350446101 | ABCA12,SNHG31 | c.6580G>A (p.Val2194Ile) c.5626G>A (p.Val1876Ile) n.6880G>A n.444+5974C>T c.6589G>A (p.Val2197Ile) n.7078G>A | |
2 | g.214953922C>A | CA350446103 | ABCA12,SNHG31 | c.6579G>T (p.Leu2193Phe) c.5625G>T (p.Leu1875Phe) n.6879G>T n.444+5975C>A c.6588G>T (p.Leu2196Phe) n.7077G>T | gnomAD v4 |
2 | g.214953922C= | CA1327150075 | ABCA12,SNHG31 | c.6579G= (p.Leu2193=) c.5625G= (p.Leu1875=) n.6879G= n.444+5975C= c.6588G= (p.Leu2196=) n.7077G= | |
2 | g.214953922C>G | CA350446104 | ABCA12,SNHG31 | c.6579G>C (p.Leu2193Phe) c.5625G>C (p.Leu1875Phe) n.6879G>C n.444+5975C>G c.6588G>C (p.Leu2196Phe) n.7077G>C | dbSNP gnomAD v4 |
2 | g.214953922C>T | CA431388032 | ABCA12,SNHG31 | c.6579G>A (p.Leu2193=) c.5625G>A (p.Leu1875=) n.6879G>A n.444+5975C>T c.6588G>A (p.Leu2196=) n.7077G>A | |
2 | g.214953923A= | CA1327150076 | ABCA12,SNHG31 | c.6578T= (p.Leu2193=) c.5624T= (p.Leu1875=) n.6878T= n.444+5976A= c.6587T= (p.Leu2196=) n.7076T= | |
2 | g.214953923A>C | CA350446105 | ABCA12,SNHG31 | c.6578T>G (p.Leu2193Trp) c.5624T>G (p.Leu1875Trp) n.6878T>G n.444+5976A>C c.6587T>G (p.Leu2196Trp) n.7076T>G | |
2 | g.214953923A>G | CA64797574 | ABCA12,SNHG31 | c.6578T>C (p.Leu2193Ser) c.5624T>C (p.Leu1875Ser) n.6878T>C n.444+5976A>G c.6587T>C (p.Leu2196Ser) n.7076T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214953923A>T | CA350446106 | ABCA12,SNHG31 | c.6578T>A (p.Leu2193Ter) c.5624T>A (p.Leu1875Ter) n.6878T>A n.444+5976A>T c.6587T>A (p.Leu2196Ter) n.7076T>A | |
2 | g.214953924A>C | CA350446107 | ABCA12,SNHG31 | c.6577T>G (p.Leu2193Val) c.5623T>G (p.Leu1875Val) n.6877T>G n.444+5977A>C c.6586T>G (p.Leu2196Val) n.7075T>G | |
2 | g.214953924A>G | CA431388037 | ABCA12,SNHG31 | c.6577T>C (p.Leu2193=) c.5623T>C (p.Leu1875=) n.6877T>C n.444+5977A>G c.6586T>C (p.Leu2196=) n.7075T>C | |
2 | g.214953924A>T | CA350446108 | ABCA12,SNHG31 | c.6577T>A (p.Leu2193Met) c.5623T>A (p.Leu1875Met) n.6877T>A n.444+5977A>T c.6586T>A (p.Leu2196Met) n.7075T>A | |
2 | g.214953925A>C | CA431388040 | ABCA12,SNHG31 | c.6576T>G (p.Ala2192=) c.5622T>G (p.Ala1874=) n.6876T>G n.444+5978A>C c.6585T>G (p.Ala2195=) n.7074T>G | |
2 | g.214953925A>G | CA431388039 | ABCA12,SNHG31 | c.6576T>C (p.Ala2192=) c.5622T>C (p.Ala1874=) n.6876T>C n.444+5978A>G c.6585T>C (p.Ala2195=) n.7074T>C | |
2 | g.214953925A>T | CA431388038 | ABCA12,SNHG31 | c.6576T>A (p.Ala2192=) c.5622T>A (p.Ala1874=) n.6876T>A n.444+5978A>T c.6585T>A (p.Ala2195=) n.7074T>A | |
2 | g.214953926G>A | CA350446111 | ABCA12,SNHG31 | c.6575C>T (p.Ala2192Val) c.5621C>T (p.Ala1874Val) n.6875C>T n.444+5979G>A c.6584C>T (p.Ala2195Val) n.7073C>T | |
2 | g.214953926G>C | CA350446110 | ABCA12,SNHG31 | c.6575C>G (p.Ala2192Gly) c.5621C>G (p.Ala1874Gly) n.6875C>G n.444+5979G>C c.6584C>G (p.Ala2195Gly) n.7073C>G | |
2 | g.214953926G>T | CA350446109 | ABCA12,SNHG31 | c.6575C>A (p.Ala2192Asp) c.5621C>A (p.Ala1874Asp) n.6875C>A n.444+5979G>T c.6584C>A (p.Ala2195Asp) n.7073C>A | |
2 | g.214953927C>A | CA350446112 | ABCA12,SNHG31 | c.6574G>T (p.Ala2192Ser) c.5620G>T (p.Ala1874Ser) n.6874G>T n.444+5980C>A c.6583G>T (p.Ala2195Ser) n.7072G>T | |
2 | g.214953927C>G | CA350446113 | ABCA12,SNHG31 | c.6574G>C (p.Ala2192Pro) c.5620G>C (p.Ala1874Pro) n.6874G>C n.444+5980C>G c.6583G>C (p.Ala2195Pro) n.7072G>C | gnomAD v4 |
2 | g.214953927C>T | CA350446114 | ABCA12,SNHG31 | c.6574G>A (p.Ala2192Thr) c.5620G>A (p.Ala1874Thr) n.6874G>A n.444+5980C>T c.6583G>A (p.Ala2195Thr) n.7072G>A | gnomAD v4 |
2 | g.214953928C>A | CA431388044 | ABCA12,SNHG31 | c.6573G>T (p.Val2191=) c.5619G>T (p.Val1873=) n.6873G>T n.444+5981C>A c.6582G>T (p.Val2194=) n.7071G>T | |
2 | g.214953928C>G | CA431388045 | ABCA12,SNHG31 | c.6573G>C (p.Val2191=) c.5619G>C (p.Val1873=) n.6873G>C n.444+5981C>G c.6582G>C (p.Val2194=) n.7071G>C | |
2 | g.214953928C>T | CA431388046 | ABCA12,SNHG31 | c.6573G>A (p.Val2191=) c.5619G>A (p.Val1873=) n.6873G>A n.444+5981C>T c.6582G>A (p.Val2194=) n.7071G>A | |
2 | g.214953929A>C | CA350446115 | ABCA12,SNHG31 | c.6572T>G (p.Val2191Gly) c.5618T>G (p.Val1873Gly) n.6872T>G n.444+5982A>C c.6581T>G (p.Val2194Gly) n.7070T>G | |
2 | g.214953929A>G | CA350446116 | ABCA12,SNHG31 | c.6572T>C (p.Val2191Ala) c.5618T>C (p.Val1873Ala) n.6872T>C n.444+5982A>G c.6581T>C (p.Val2194Ala) n.7070T>C | gnomAD v4 |
2 | g.214953929A>T | CA350446117 | ABCA12,SNHG31 | c.6572T>A (p.Val2191Glu) c.5618T>A (p.Val1873Glu) n.6872T>A n.444+5982A>T c.6581T>A (p.Val2194Glu) n.7070T>A | |
2 | g.214953930C>A | CA350446118 | ABCA12,SNHG31 | c.6571G>T (p.Val2191Leu) c.5617G>T (p.Val1873Leu) n.6871G>T n.444+5983C>A c.6580G>T (p.Val2194Leu) n.7069G>T | |
2 | g.214953930C>G | CA350446120 | ABCA12,SNHG31 | c.6571G>C (p.Val2191Leu) c.5617G>C (p.Val1873Leu) n.6871G>C n.444+5983C>G c.6580G>C (p.Val2194Leu) n.7069G>C | |
2 | g.214953930C>T | CA350446119 | ABCA12,SNHG31 | c.6571G>A (p.Val2191Met) c.5617G>A (p.Val1873Met) n.6871G>A n.444+5983C>T c.6580G>A (p.Val2194Met) n.7069G>A | |
2 | g.214953931A>C | CA350446121 | ABCA12,SNHG31 | c.6570T>G (p.Phe2190Leu) c.5616T>G (p.Phe1872Leu) n.6870T>G n.444+5984A>C c.6579T>G (p.Phe2193Leu) n.7068T>G | |
2 | g.214953931A>G | CA431388050 | ABCA12,SNHG31 | c.6570T>C (p.Phe2190=) c.5616T>C (p.Phe1872=) n.6870T>C n.444+5984A>G c.6579T>C (p.Phe2193=) n.7068T>C | |
2 | g.214953931A>T | CA350446122 | ABCA12,SNHG31 | c.6570T>A (p.Phe2190Leu) c.5616T>A (p.Phe1872Leu) n.6870T>A n.444+5984A>T c.6579T>A (p.Phe2193Leu) n.7068T>A | |
2 | g.214953932A>C | CA350446123 | ABCA12,SNHG31 | c.6569T>G (p.Phe2190Cys) c.5615T>G (p.Phe1872Cys) n.6869T>G n.444+5985A>C c.6578T>G (p.Phe2193Cys) n.7067T>G | |
2 | g.214953932A>G | CA350446124 | ABCA12,SNHG31 | c.6569T>C (p.Phe2190Ser) c.5615T>C (p.Phe1872Ser) n.6869T>C n.444+5985A>G c.6578T>C (p.Phe2193Ser) n.7067T>C | |
2 | g.214953932A>T | CA350446125 | ABCA12,SNHG31 | c.6569T>A (p.Phe2190Tyr) c.5615T>A (p.Phe1872Tyr) n.6869T>A n.444+5985A>T c.6578T>A (p.Phe2193Tyr) n.7067T>A | |
2 | g.214953933A= | CA1327150077 | ABCA12,SNHG31 | c.6568T= (p.Phe2190=) c.5614T= (p.Phe1872=) n.6868T= n.444+5986A= c.6577T= (p.Phe2193=) n.7066T= | |
2 | g.214953933A>C | CA350446126 | ABCA12,SNHG31 | c.6568T>G (p.Phe2190Val) c.5614T>G (p.Phe1872Val) n.6868T>G n.444+5986A>C c.6577T>G (p.Phe2193Val) n.7066T>G | |
2 | g.214953933A>G | CA350446127 | ABCA12,SNHG31 | c.6568T>C (p.Phe2190Leu) c.5614T>C (p.Phe1872Leu) n.6868T>C n.444+5986A>G c.6577T>C (p.Phe2193Leu) n.7066T>C | dbSNP |
2 | g.214953933A>T | CA350446128 | ABCA12,SNHG31 | c.6568T>A (p.Phe2190Ile) c.5614T>A (p.Phe1872Ile) n.6868T>A n.444+5986A>T c.6577T>A (p.Phe2193Ile) n.7066T>A |