Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214990845_214990945del | CA913089815 | ABCA12 | c.3381_3481del (p.Ile1128GlufsTer?) c.2427_2527del (p.Ile810GlufsTer?) n.3681_3781del n.3879_3979del | ClinVar |
2 | g.214990885_214990886delinsCA | CA1327165391 | ABCA12 | c.3440_3441delinsTG (p.Leu1147=) c.2486_2487delinsTG (p.Leu829=) n.3740_3741delinsTG n.3938_3939delinsTG | |
2 | g.214990886A>C | CA350469132 | ABCA12 | c.3440T>G (p.Leu1147Trp) c.2486T>G (p.Leu829Trp) n.3740T>G n.3938T>G | |
2 | g.214990886A>G | CA350469135 | ABCA12 | c.3440T>C (p.Leu1147Ser) c.2486T>C (p.Leu829Ser) n.3740T>C n.3938T>C | |
2 | g.214990886A>T | CA350469137 | ABCA12 | c.3440T>A (p.Leu1147Ter) c.2486T>A (p.Leu829Ter) n.3740T>A n.3938T>A | |
2 | g.214990889del | CA539837472 | ABCA12 | c.3440del (p.Leu1147CysfsTer15) c.2486del (p.Leu829CysfsTer15) n.3740del n.3938del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990887A>C | CA350469140 | ABCA12 | c.3439T>G (p.Leu1147Val) c.2485T>G (p.Leu829Val) n.3739T>G n.3937T>G | |
2 | g.214990887A>G | CA431388162 | ABCA12 | c.3439T>C (p.Leu1147=) c.2485T>C (p.Leu829=) n.3739T>C n.3937T>C | |
2 | g.214990887A>T | CA350469141 | ABCA12 | c.3439T>A (p.Leu1147Met) c.2485T>A (p.Leu829Met) n.3739T>A n.3937T>A | |
2 | g.214990888A>C | CA350469142 | ABCA12 | c.3438T>G (p.Ile1146Met) c.2484T>G (p.Ile828Met) n.3738T>G n.3936T>G | |
2 | g.214990888A>G | CA431388166 | ABCA12 | c.3438T>C (p.Ile1146=) c.2484T>C (p.Ile828=) n.3738T>C n.3936T>C | |
2 | g.214990888A>T | CA431388168 | ABCA12 | c.3438T>A (p.Ile1146=) c.2484T>A (p.Ile828=) n.3738T>A n.3936T>A | |
2 | g.214990889A>C | CA350469147 | ABCA12 | c.3437T>G (p.Ile1146Ser) c.2483T>G (p.Ile828Ser) n.3737T>G n.3935T>G | |
2 | g.214990889A>G | CA350469148 | ABCA12 | c.3437T>C (p.Ile1146Thr) c.2483T>C (p.Ile828Thr) n.3737T>C n.3935T>C | |
2 | g.214990889A>T | CA350469145 | ABCA12 | c.3437T>A (p.Ile1146Asn) c.2483T>A (p.Ile828Asn) n.3737T>A n.3935T>A | |
2 | g.214990890T>A | CA350469151 | ABCA12 | c.3436A>T (p.Ile1146Phe) c.2482A>T (p.Ile828Phe) n.3736A>T n.3934A>T | |
2 | g.214990890T>C | CA350469149 | ABCA12 | c.3436A>G (p.Ile1146Val) c.2482A>G (p.Ile828Val) n.3736A>G n.3934A>G | |
2 | g.214990890T>G | CA350469153 | ABCA12 | c.3436A>C (p.Ile1146Leu) c.2482A>C (p.Ile828Leu) n.3736A>C n.3934A>C | |
2 | g.214990891G>A | CA431388173 | ABCA12 | c.3435C>T (p.Phe1145=) c.2481C>T (p.Phe827=) n.3735C>T n.3933C>T | |
2 | g.214990891G>C | CA350469156 | ABCA12 | c.3435C>G (p.Phe1145Leu) c.2481C>G (p.Phe827Leu) n.3735C>G n.3933C>G | |
2 | g.214990891G>T | CA350469158 | ABCA12 | c.3435C>A (p.Phe1145Leu) c.2481C>A (p.Phe827Leu) n.3735C>A n.3933C>A | gnomAD v4 |
2 | g.214990892A>C | CA350469160 | ABCA12 | c.3434T>G (p.Phe1145Cys) c.2480T>G (p.Phe827Cys) n.3734T>G n.3932T>G | |
2 | g.214990892A>G | CA350469162 | ABCA12 | c.3434T>C (p.Phe1145Ser) c.2480T>C (p.Phe827Ser) n.3734T>C n.3932T>C | |
2 | g.214990892A>T | CA350469164 | ABCA12 | c.3434T>A (p.Phe1145Tyr) c.2480T>A (p.Phe827Tyr) n.3734T>A n.3932T>A | |
2 | g.214990893A>C | CA350469167 | ABCA12 | c.3433T>G (p.Phe1145Val) c.2479T>G (p.Phe827Val) n.3733T>G n.3931T>G | |
2 | g.214990893A>G | CA350469169 | ABCA12 | c.3433T>C (p.Phe1145Leu) c.2479T>C (p.Phe827Leu) n.3733T>C n.3931T>C | |
2 | g.214990893A>T | CA350469170 | ABCA12 | c.3433T>A (p.Phe1145Ile) c.2479T>A (p.Phe827Ile) n.3733T>A n.3931T>A | |
2 | g.214990894C>A | CA431388176 | ABCA12 | c.3432G>T (p.Gly1144=) c.2478G>T (p.Gly826=) n.3732G>T n.3930G>T | |
2 | g.214990894C= | CA1327165392 | ABCA12 | c.3432G= (p.Gly1144=) c.2478G= (p.Gly826=) n.3732G= n.3930G= | |
2 | g.214990894C>G | CA2091735 | ABCA12 | c.3432G>C (p.Gly1144=) c.2478G>C (p.Gly826=) n.3732G>C n.3930G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990894C>T | CA431388175 | ABCA12 | c.3432G>A (p.Gly1144=) c.2478G>A (p.Gly826=) n.3732G>A n.3930G>A | |
2 | g.214990895C>A | CA350469175 | ABCA12 | c.3431G>T (p.Gly1144Val) c.2477G>T (p.Gly826Val) n.3731G>T n.3929G>T | gnomAD v4 |
2 | g.214990895C>G | CA350469176 | ABCA12 | c.3431G>C (p.Gly1144Ala) c.2477G>C (p.Gly826Ala) n.3731G>C n.3929G>C | gnomAD v4 |
2 | g.214990895C>T | CA350469178 | ABCA12 | c.3431G>A (p.Gly1144Glu) c.2477G>A (p.Gly826Glu) n.3731G>A n.3929G>A | |
2 | g.214990896C>A | CA350469185 | ABCA12 | c.3430G>T (p.Gly1144Trp) c.2476G>T (p.Gly826Trp) n.3730G>T n.3928G>T | |
2 | g.214990896C>G | CA350469180 | ABCA12 | c.3430G>C (p.Gly1144Arg) c.2476G>C (p.Gly826Arg) n.3730G>C n.3928G>C | |
2 | g.214990896C>T | CA350469183 | ABCA12 | c.3430G>A (p.Gly1144Arg) c.2476G>A (p.Gly826Arg) n.3730G>A n.3928G>A | COSMIC COSMIC |
2 | g.214990897A>C | CA350469187 | ABCA12 | c.3429T>G (p.Asn1143Lys) c.2475T>G (p.Asn825Lys) n.3729T>G n.3927T>G | |
2 | g.214990897A>G | CA431388178 | ABCA12 | c.3429T>C (p.Asn1143=) c.2475T>C (p.Asn825=) n.3729T>C n.3927T>C | |
2 | g.214990897A>T | CA350469189 | ABCA12 | c.3429T>A (p.Asn1143Lys) c.2475T>A (p.Asn825Lys) n.3729T>A n.3927T>A | COSMIC COSMIC |
2 | g.214990898T>A | CA350469192 | ABCA12 | c.3428A>T (p.Asn1143Ile) c.2474A>T (p.Asn825Ile) n.3728A>T n.3926A>T | gnomAD v4 |
2 | g.214990898T>C | CA350469194 | ABCA12 | c.3428A>G (p.Asn1143Ser) c.2474A>G (p.Asn825Ser) n.3728A>G n.3926A>G | gnomAD v4 |
2 | g.214990898T>G | CA350469196 | ABCA12 | c.3428A>C (p.Asn1143Thr) c.2474A>C (p.Asn825Thr) n.3728A>C n.3926A>C | |
2 | g.214990899T>A | CA350469199 | ABCA12 | c.3427A>T (p.Asn1143Tyr) c.2473A>T (p.Asn825Tyr) n.3727A>T n.3925A>T | |
2 | g.214990899T>C | CA350469201 | ABCA12 | c.3427A>G (p.Asn1143Asp) c.2473A>G (p.Asn825Asp) n.3727A>G n.3925A>G | |
2 | g.214990899T>G | CA350469203 | ABCA12 | c.3427A>C (p.Asn1143His) c.2473A>C (p.Asn825His) n.3727A>C n.3925A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990899T= | CA1327165393 | ABCA12 | c.3427A= (p.Asn1143=) c.2473A= (p.Asn825=) n.3727A= n.3925A= | |
2 | g.214990900T>A | CA431388181 | ABCA12 | c.3426A>T (p.Thr1142=) c.2472A>T (p.Thr824=) n.3726A>T n.3924A>T | |
2 | g.214990900T>C | CA431388182 | ABCA12 | c.3426A>G (p.Thr1142=) c.2472A>G (p.Thr824=) n.3726A>G n.3924A>G | |
2 | g.214990900T>G | CA431388185 | ABCA12 | c.3426A>C (p.Thr1142=) c.2472A>C (p.Thr824=) n.3726A>C n.3924A>C | |
2 | g.214990901G>A | CA350469204 | ABCA12 | c.3425C>T (p.Thr1142Ile) c.2471C>T (p.Thr824Ile) n.3725C>T n.3923C>T | |
2 | g.214990901G>C | CA350469206 | ABCA12 | c.3425C>G (p.Thr1142Arg) c.2471C>G (p.Thr824Arg) n.3725C>G n.3923C>G | |
2 | g.214990901G= | CA1327165394 | ABCA12 | c.3425C= (p.Thr1142=) c.2471C= (p.Thr824=) n.3725C= n.3923C= | |
2 | g.214990901G>T | CA350469208 | ABCA12 | c.3425C>A (p.Thr1142Lys) c.2471C>A (p.Thr824Lys) n.3725C>A n.3923C>A | dbSNP gnomAD v4 |
2 | g.214990901_214990902delinsGT | CA1327165395 | ABCA12 | c.3424_3425delinsAC (p.Thr1142=) c.2470_2471delinsAC (p.Thr824=) n.3724_3725delinsAC n.3922_3923delinsAC | |
2 | g.214990902T>A | CA350469212 | ABCA12 | c.3424A>T (p.Thr1142Ser) c.2470A>T (p.Thr824Ser) n.3724A>T n.3922A>T | |
2 | g.214990902T>C | CA350469214 | ABCA12 | c.3424A>G (p.Thr1142Ala) c.2470A>G (p.Thr824Ala) n.3724A>G n.3922A>G | dbSNP gnomAD v4 |
2 | g.214990902T>G | CA350469211 | ABCA12 | c.3424A>C (p.Thr1142Pro) c.2470A>C (p.Thr824Pro) n.3724A>C n.3922A>C | |
2 | g.214990902T= | CA1327165397 | ABCA12 | c.3424A= (p.Thr1142=) c.2470A= (p.Thr824=) n.3724A= n.3922A= | |
2 | g.214990905del | CA1327165396 | ABCA12 | c.3424del (p.Thr1142GlnfsTer20) c.2470del (p.Thr824GlnfsTer20) n.3724del n.3922del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214990903T>A | CA350469217 | ABCA12 | c.3423A>T (p.Lys1141Asn) c.2469A>T (p.Lys823Asn) n.3723A>T n.3921A>T | |
2 | g.214990903T>C | CA431388194 | ABCA12 | c.3423A>G (p.Lys1141=) c.2469A>G (p.Lys823=) n.3723A>G n.3921A>G | |
2 | g.214990903T>G | CA350469218 | ABCA12 | c.3423A>C (p.Lys1141Asn) c.2469A>C (p.Lys823Asn) n.3723A>C n.3921A>C | |
2 | g.214990904T>A | CA350469221 | ABCA12 | c.3422A>T (p.Lys1141Ile) c.2468A>T (p.Lys823Ile) n.3722A>T n.3920A>T | |
2 | g.214990904T>C | CA350469223 | ABCA12 | c.3422A>G (p.Lys1141Arg) c.2468A>G (p.Lys823Arg) n.3722A>G n.3920A>G | |
2 | g.214990904T>G | CA350469225 | ABCA12 | c.3422A>C (p.Lys1141Thr) c.2468A>C (p.Lys823Thr) n.3722A>C n.3920A>C | |
2 | g.214990905T>A | CA350469230 | ABCA12 | c.3421A>T (p.Lys1141Ter) c.2467A>T (p.Lys823Ter) n.3721A>T n.3919A>T | |
2 | g.214990905T>C | CA350469229 | ABCA12 | c.3421A>G (p.Lys1141Glu) c.2467A>G (p.Lys823Glu) n.3721A>G n.3919A>G | |
2 | g.214990905T>G | CA350469228 | ABCA12 | c.3421A>C (p.Lys1141Gln) c.2467A>C (p.Lys823Gln) n.3721A>C n.3919A>C | |
2 | g.214990906A>C | CA431388197 | ABCA12 | c.3420T>G (p.Pro1140=) c.2466T>G (p.Pro822=) n.3720T>G n.3918T>G | |
2 | g.214990906A>G | CA431388198 | ABCA12 | c.3420T>C (p.Pro1140=) c.2466T>C (p.Pro822=) n.3720T>C n.3918T>C | |
2 | g.214990906A>T | CA431388200 | ABCA12 | c.3420T>A (p.Pro1140=) c.2466T>A (p.Pro822=) n.3720T>A n.3918T>A | |
2 | g.214990907G>A | CA350469233 | ABCA12 | c.3419C>T (p.Pro1140Leu) c.2465C>T (p.Pro822Leu) n.3719C>T n.3917C>T | |
2 | g.214990907G>C | CA350469234 | ABCA12 | c.3419C>G (p.Pro1140Arg) c.2465C>G (p.Pro822Arg) n.3719C>G n.3917C>G | |
2 | g.214990907G>T | CA350469236 | ABCA12 | c.3419C>A (p.Pro1140His) c.2465C>A (p.Pro822His) n.3719C>A n.3917C>A | |
2 | g.214990908G>A | CA350469238 | ABCA12 | c.3418C>T (p.Pro1140Ser) c.2464C>T (p.Pro822Ser) n.3718C>T n.3916C>T | COSMIC COSMIC |
2 | g.214990908G>C | CA350469242 | ABCA12 | c.3418C>G (p.Pro1140Ala) c.2464C>G (p.Pro822Ala) n.3718C>G n.3916C>G | |
2 | g.214990908G>T | CA350469244 | ABCA12 | c.3418C>A (p.Pro1140Thr) c.2464C>A (p.Pro822Thr) n.3718C>A n.3916C>A | |
2 | g.214990909A>C | CA431388202 | ABCA12 | c.3417T>G (p.Leu1139=) c.2463T>G (p.Leu821=) n.3717T>G n.3915T>G | |
2 | g.214990909A>G | CA431388203 | ABCA12 | c.3417T>C (p.Leu1139=) c.2463T>C (p.Leu821=) n.3717T>C n.3915T>C | |
2 | g.214990909A>T | CA431388204 | ABCA12 | c.3417T>A (p.Leu1139=) c.2463T>A (p.Leu821=) n.3717T>A n.3915T>A | |
2 | g.214990910A>C | CA350469247 | ABCA12 | c.3416T>G (p.Leu1139Arg) c.2462T>G (p.Leu821Arg) n.3716T>G n.3914T>G | |
2 | g.214990910A>G | CA350469251 | ABCA12 | c.3416T>C (p.Leu1139Pro) c.2462T>C (p.Leu821Pro) n.3716T>C n.3914T>C | ClinVar dbSNP gnomAD v4 |
2 | g.214990910A>T | CA350469249 | ABCA12 | c.3416T>A (p.Leu1139His) c.2462T>A (p.Leu821His) n.3716T>A n.3914T>A | |
2 | g.214990911G>A | CA350469252 | ABCA12 | c.3415C>T (p.Leu1139Phe) c.2461C>T (p.Leu821Phe) n.3715C>T n.3913C>T | |
2 | g.214990911G>C | CA350469254 | ABCA12 | c.3415C>G (p.Leu1139Val) c.2461C>G (p.Leu821Val) n.3715C>G n.3913C>G | |
2 | g.214990911G>T | CA350469256 | ABCA12 | c.3415C>A (p.Leu1139Ile) c.2461C>A (p.Leu821Ile) n.3715C>A n.3913C>A | |
2 | g.214990912A>C | CA350469259 | ABCA12 | c.3414T>G (p.Ile1138Met) c.2460T>G (p.Ile820Met) n.3714T>G n.3912T>G | |
2 | g.214990912A>G | CA431388209 | ABCA12 | c.3414T>C (p.Ile1138=) c.2460T>C (p.Ile820=) n.3714T>C n.3912T>C | |
2 | g.214990912A>T | CA431388210 | ABCA12 | c.3414T>A (p.Ile1138=) c.2460T>A (p.Ile820=) n.3714T>A n.3912T>A | |
2 | g.214990913A>C | CA350469261 | ABCA12 | c.3413T>G (p.Ile1138Ser) c.2459T>G (p.Ile820Ser) n.3713T>G n.3911T>G | |
2 | g.214990913A>G | CA350469263 | ABCA12 | c.3413T>C (p.Ile1138Thr) c.2459T>C (p.Ile820Thr) n.3713T>C n.3911T>C | |
2 | g.214990913A>T | CA350469265 | ABCA12 | c.3413T>A (p.Ile1138Asn) c.2459T>A (p.Ile820Asn) n.3713T>A n.3911T>A | |
2 | g.214990914T>A | CA350469268 | ABCA12 | c.3412A>T (p.Ile1138Phe) c.2458A>T (p.Ile820Phe) n.3712A>T n.3910A>T | |
2 | g.214990914T>C | CA2091736 | ABCA12 | c.3412A>G (p.Ile1138Val) c.2458A>G (p.Ile820Val) n.3712A>G n.3910A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990914T>G | CA350469271 | ABCA12 | c.3412A>C (p.Ile1138Leu) c.2458A>C (p.Ile820Leu) n.3712A>C n.3910A>C | |
2 | g.214990914T= | CA1327165398 | ABCA12 | c.3412A= (p.Ile1138=) c.2458A= (p.Ile820=) n.3712A= n.3910A= | |
2 | g.214990914_214990915insCTGTCTCTT | CA2754209703 | ABCA12 | c.3412_3413insAGAGACAGA (p.Asn1137_Ile1138insLysArgGln) c.2458_2459insAGAGACAGA (p.Asn819_Ile820insLysArgGln) n.3712_3713insAGAGACAGA n.3910_3911insAGAGACAGA | |
2 | g.214990915A>C | CA350469273 | ABCA12 | c.3411T>G (p.Asn1137Lys) c.2457T>G (p.Asn819Lys) n.3711T>G n.3909T>G | |
2 | g.214990915A>G | CA431388214 | ABCA12 | c.3411T>C (p.Asn1137=) c.2457T>C (p.Asn819=) n.3711T>C n.3909T>C | gnomAD v4 |
2 | g.214990915A>T | CA350469275 | ABCA12 | c.3411T>A (p.Asn1137Lys) c.2457T>A (p.Asn819Lys) n.3711T>A n.3909T>A | |
2 | g.214990916T>A | CA350469282 | ABCA12 | c.3410A>T (p.Asn1137Ile) c.2456A>T (p.Asn819Ile) n.3710A>T n.3908A>T | |
2 | g.214990916T>C | CA350469280 | ABCA12 | c.3410A>G (p.Asn1137Ser) c.2456A>G (p.Asn819Ser) n.3710A>G n.3908A>G | |
2 | g.214990916T>G | CA350469278 | ABCA12 | c.3410A>C (p.Asn1137Thr) c.2456A>C (p.Asn819Thr) n.3710A>C n.3908A>C | |
2 | g.214990916_214990917insACACA | CA2754209704 | ABCA12 | c.3409_3410insTGTGT (p.Asn1137MetfsTer27) c.2455_2456insTGTGT (p.Asn819MetfsTer27) n.3709_3710insTGTGT n.3907_3908insTGTGT | |
2 | g.214990917T>A | CA350469285 | ABCA12 | c.3409A>T (p.Asn1137Tyr) c.2455A>T (p.Asn819Tyr) n.3709A>T n.3907A>T | |
2 | g.214990917T>C | CA350469289 | ABCA12 | c.3409A>G (p.Asn1137Asp) c.2455A>G (p.Asn819Asp) n.3709A>G n.3907A>G | |
2 | g.214990917T>G | CA350469287 | ABCA12 | c.3409A>C (p.Asn1137His) c.2455A>C (p.Asn819His) n.3709A>C n.3907A>C | |
2 | g.214990917_214990918insCTC | CA2754209705 | ABCA12 | c.3408_3409insGAG (p.Gly1136_Asn1137insGlu) c.2454_2455insGAG (p.Gly818_Asn819insGlu) n.3708_3709insGAG n.3906_3907insGAG | |
2 | g.214990918G>A | CA431388222 | ABCA12 | c.3408C>T (p.Gly1136=) c.2454C>T (p.Gly818=) n.3708C>T n.3906C>T | COSMIC COSMIC |
2 | g.214990918G>C | CA431388221 | ABCA12 | c.3408C>G (p.Gly1136=) c.2454C>G (p.Gly818=) n.3708C>G n.3906C>G | |
2 | g.214990918G>T | CA431388220 | ABCA12 | c.3408C>A (p.Gly1136=) c.2454C>A (p.Gly818=) n.3708C>A n.3906C>A | |
2 | g.214990919C>A | CA350469292 | ABCA12 | c.3407G>T (p.Gly1136Val) c.2453G>T (p.Gly818Val) n.3707G>T n.3905G>T | |
2 | g.214990919C>G | CA350469294 | ABCA12 | c.3407G>C (p.Gly1136Ala) c.2453G>C (p.Gly818Ala) n.3707G>C n.3905G>C | |
2 | g.214990919C>T | CA350469296 | ABCA12 | c.3407G>A (p.Gly1136Asp) c.2453G>A (p.Gly818Asp) n.3707G>A n.3905G>A | |
2 | g.214990920C>A | CA350469299 | ABCA12 | c.3406G>T (p.Gly1136Cys) c.2452G>T (p.Gly818Cys) n.3706G>T n.3904G>T | |
2 | g.214990920C>G | CA350469302 | ABCA12 | c.3406G>C (p.Gly1136Arg) c.2452G>C (p.Gly818Arg) n.3706G>C n.3904G>C | |
2 | g.214990920C>T | CA350469304 | ABCA12 | c.3406G>A (p.Gly1136Ser) c.2452G>A (p.Gly818Ser) n.3706G>A n.3904G>A | |
2 | g.214990921A>C | CA350469306 | ABCA12 | c.3405T>G (p.Phe1135Leu) c.2451T>G (p.Phe817Leu) n.3705T>G n.3903T>G | |
2 | g.214990921A>G | CA431388229 | ABCA12 | c.3405T>C (p.Phe1135=) c.2451T>C (p.Phe817=) n.3705T>C n.3903T>C | |
2 | g.214990921A>T | CA350469309 | ABCA12 | c.3405T>A (p.Phe1135Leu) c.2451T>A (p.Phe817Leu) n.3705T>A n.3903T>A | |
2 | g.214990922A>C | CA350469312 | ABCA12 | c.3404T>G (p.Phe1135Cys) c.2450T>G (p.Phe817Cys) n.3704T>G n.3902T>G | |
2 | g.214990922A>G | CA350469314 | ABCA12 | c.3404T>C (p.Phe1135Ser) c.2450T>C (p.Phe817Ser) n.3704T>C n.3902T>C | |
2 | g.214990922A>T | CA350469316 | ABCA12 | c.3404T>A (p.Phe1135Tyr) c.2450T>A (p.Phe817Tyr) n.3704T>A n.3902T>A | |
2 | g.214990923A>C | CA350469323 | ABCA12 | c.3403T>G (p.Phe1135Val) c.2449T>G (p.Phe817Val) n.3703T>G n.3901T>G | |
2 | g.214990923A>G | CA350469319 | ABCA12 | c.3403T>C (p.Phe1135Leu) c.2449T>C (p.Phe817Leu) n.3703T>C n.3901T>C | |
2 | g.214990923A>T | CA350469321 | ABCA12 | c.3403T>A (p.Phe1135Ile) c.2449T>A (p.Phe817Ile) n.3703T>A n.3901T>A | |
2 | g.214990924C>A | CA350469326 | ABCA12 | c.3402G>T (p.Lys1134Asn) c.2448G>T (p.Lys816Asn) n.3702G>T n.3900G>T | |
2 | g.214990924C= | CA1327165399 | ABCA12 | c.3402G= (p.Lys1134=) c.2448G= (p.Lys816=) n.3702G= n.3900G= | |
2 | g.214990924C>G | CA350469328 | ABCA12 | c.3402G>C (p.Lys1134Asn) c.2448G>C (p.Lys816Asn) n.3702G>C n.3900G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214990924C>T | CA431388241 | ABCA12 | c.3402G>A (p.Lys1134=) c.2448G>A (p.Lys816=) n.3702G>A n.3900G>A | |
2 | g.214990925T>A | CA350469330 | ABCA12 | c.3401A>T (p.Lys1134Met) c.2447A>T (p.Lys816Met) n.3701A>T n.3899A>T | |
2 | g.214990925T>C | CA350469332 | ABCA12 | c.3401A>G (p.Lys1134Arg) c.2447A>G (p.Lys816Arg) n.3701A>G n.3899A>G | gnomAD v4 |
2 | g.214990925T>G | CA350469334 | ABCA12 | c.3401A>C (p.Lys1134Thr) c.2447A>C (p.Lys816Thr) n.3701A>C n.3899A>C | COSMIC COSMIC |
2 | g.214990926T>A | CA350469337 | ABCA12 | c.3400A>T (p.Lys1134Ter) c.2446A>T (p.Lys816Ter) n.3700A>T n.3898A>T | |
2 | g.214990926T>C | CA350469339 | ABCA12 | c.3400A>G (p.Lys1134Glu) c.2446A>G (p.Lys816Glu) n.3700A>G n.3898A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990926T>G | CA350469340 | ABCA12 | c.3400A>C (p.Lys1134Gln) c.2446A>C (p.Lys816Gln) n.3700A>C n.3898A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990926T= | CA1327165400 | ABCA12 | c.3400A= (p.Lys1134=) c.2446A= (p.Lys816=) n.3700A= n.3898A= | |
2 | g.214990927G>A | CA431388250 | ABCA12 | c.3399C>T (p.Leu1133=) c.2445C>T (p.Leu815=) n.3699C>T n.3897C>T | |
2 | g.214990927G>C | CA431388252 | ABCA12 | c.3399C>G (p.Leu1133=) c.2445C>G (p.Leu815=) n.3699C>G n.3897C>G | gnomAD v4 |
2 | g.214990927G>T | CA431388254 | ABCA12 | c.3399C>A (p.Leu1133=) c.2445C>A (p.Leu815=) n.3699C>A n.3897C>A | |
2 | g.214990928A>C | CA350469343 | ABCA12 | c.3398T>G (p.Leu1133Arg) c.2444T>G (p.Leu815Arg) n.3698T>G n.3896T>G | |
2 | g.214990928A>G | CA350469344 | ABCA12 | c.3398T>C (p.Leu1133Pro) c.2444T>C (p.Leu815Pro) n.3698T>C n.3896T>C | |
2 | g.214990928A>T | CA350469346 | ABCA12 | c.3398T>A (p.Leu1133His) c.2444T>A (p.Leu815His) n.3698T>A n.3896T>A | |
2 | g.214990929G>A | CA350469350 | ABCA12 | c.3397C>T (p.Leu1133Phe) c.2443C>T (p.Leu815Phe) n.3697C>T n.3895C>T | COSMIC COSMIC |
2 | g.214990929G>C | CA350469352 | ABCA12 | c.3397C>G (p.Leu1133Val) c.2443C>G (p.Leu815Val) n.3697C>G n.3895C>G | |
2 | g.214990929G>T | CA350469349 | ABCA12 | c.3397C>A (p.Leu1133Ile) c.2443C>A (p.Leu815Ile) n.3697C>A n.3895C>A | |
2 | g.214990930T>A | CA431388260 | ABCA12 | c.3396A>T (p.Ile1132=) c.2442A>T (p.Ile814=) n.3696A>T n.3894A>T | |
2 | g.214990930T>C | CA350469355 | ABCA12 | c.3396A>G (p.Ile1132Met) c.2442A>G (p.Ile814Met) n.3696A>G n.3894A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990930T>G | CA431388265 | ABCA12 | c.3396A>C (p.Ile1132=) c.2442A>C (p.Ile814=) n.3696A>C n.3894A>C | gnomAD v4 |
2 | g.214990930T= | CA1327165401 | ABCA12 | c.3396A= (p.Ile1132=) c.2442A= (p.Ile814=) n.3696A= n.3894A= | |
2 | g.214990931A= | CA1327165402 | ABCA12 | c.3395T= (p.Ile1132=) c.2441T= (p.Ile814=) n.3695T= n.3893T= | |
2 | g.214990931A>C | CA350469357 | ABCA12 | c.3395T>G (p.Ile1132Arg) c.2441T>G (p.Ile814Arg) n.3695T>G n.3893T>G | |
2 | g.214990931A>G | CA2091737 | ABCA12 | c.3395T>C (p.Ile1132Thr) c.2441T>C (p.Ile814Thr) n.3695T>C n.3893T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990931A>T | CA350469361 | ABCA12 | c.3395T>A (p.Ile1132Lys) c.2441T>A (p.Ile814Lys) n.3695T>A n.3893T>A | |
2 | g.214990932T>A | CA350469364 | ABCA12 | c.3394A>T (p.Ile1132Leu) c.2440A>T (p.Ile814Leu) n.3694A>T n.3892A>T | |
2 | g.214990932T>C | CA350469366 | ABCA12 | c.3394A>G (p.Ile1132Val) c.2440A>G (p.Ile814Val) n.3694A>G n.3892A>G | |
2 | g.214990932T>G | CA350469368 | ABCA12 | c.3394A>C (p.Ile1132Leu) c.2440A>C (p.Ile814Leu) n.3694A>C n.3892A>C | |
2 | g.214990933A>C | CA350469370 | ABCA12 | c.3393T>G (p.Ile1131Met) c.2439T>G (p.Ile813Met) n.3693T>G n.3891T>G | |
2 | g.214990933A>G | CA431388289 | ABCA12 | c.3393T>C (p.Ile1131=) c.2439T>C (p.Ile813=) n.3693T>C n.3891T>C | |
2 | g.214990933A>T | CA431388291 | ABCA12 | c.3393T>A (p.Ile1131=) c.2439T>A (p.Ile813=) n.3693T>A n.3891T>A | |
2 | g.214990934A>C | CA350469372 | ABCA12 | c.3392T>G (p.Ile1131Ser) c.2438T>G (p.Ile813Ser) n.3692T>G n.3890T>G | dbSNP |
2 | g.214990934A>G | CA350469373 | ABCA12 | c.3392T>C (p.Ile1131Thr) c.2438T>C (p.Ile813Thr) n.3692T>C n.3890T>C | |
2 | g.214990934A>T | CA350469376 | ABCA12 | c.3392T>A (p.Ile1131Asn) c.2438T>A (p.Ile813Asn) n.3692T>A n.3890T>A | |
2 | g.214990935T>A | CA350469379 | ABCA12 | c.3391A>T (p.Ile1131Phe) c.2437A>T (p.Ile813Phe) n.3691A>T n.3889A>T | |
2 | g.214990935T>C | CA350469381 | ABCA12 | c.3391A>G (p.Ile1131Val) c.2437A>G (p.Ile813Val) n.3691A>G n.3889A>G | dbSNP gnomAD v4 |
2 | g.214990935T>G | CA350469383 | ABCA12 | c.3391A>C (p.Ile1131Leu) c.2437A>C (p.Ile813Leu) n.3691A>C n.3889A>C | |
2 | g.214990935T= | CA1327165403 | ABCA12 | c.3391A= (p.Ile1131=) c.2437A= (p.Ile813=) n.3691A= n.3889A= | |
2 | g.214990936G>A | CA431388299 | ABCA12 | c.3390C>T (p.Ile1130=) c.2436C>T (p.Ile812=) n.3690C>T n.3888C>T | COSMIC COSMIC |
2 | g.214990936G>C | CA350469384 | ABCA12 | c.3390C>G (p.Ile1130Met) c.2436C>G (p.Ile812Met) n.3690C>G n.3888C>G | |
2 | g.214990936G= | CA1327165404 | ABCA12 | c.3390C= (p.Ile1130=) c.2436C= (p.Ile812=) n.3690C= n.3888C= | |
2 | g.214990936G>T | CA2091738 | ABCA12 | c.3390C>A (p.Ile1130=) c.2436C>A (p.Ile812=) n.3690C>A n.3888C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214990937A= | CA1327165405 | ABCA12 | c.3389T= (p.Ile1130=) c.2435T= (p.Ile812=) n.3689T= n.3887T= | |
2 | g.214990937A>C | CA350469386 | ABCA12 | c.3389T>G (p.Ile1130Ser) c.2435T>G (p.Ile812Ser) n.3689T>G n.3887T>G | |
2 | g.214990937A>G | CA350469388 | ABCA12 | c.3389T>C (p.Ile1130Thr) c.2435T>C (p.Ile812Thr) n.3689T>C n.3887T>C | dbSNP |
2 | g.214990937A>T | CA350469391 | ABCA12 | c.3389T>A (p.Ile1130Asn) c.2435T>A (p.Ile812Asn) n.3689T>A n.3887T>A | |
2 | g.214990938T>A | CA350469394 | ABCA12 | c.3388A>T (p.Ile1130Phe) c.2434A>T (p.Ile812Phe) n.3688A>T n.3886A>T | dbSNP |
2 | g.214990938T>C | CA350469396 | ABCA12 | c.3388A>G (p.Ile1130Val) c.2434A>G (p.Ile812Val) n.3688A>G n.3886A>G | |
2 | g.214990938T>G | CA350469398 | ABCA12 | c.3388A>C (p.Ile1130Leu) c.2434A>C (p.Ile812Leu) n.3688A>C n.3886A>C | |
2 | g.214990938T= | CA1327165406 | ABCA12 | c.3388A= (p.Ile1130=) c.2434A= (p.Ile812=) n.3688A= n.3886A= | |
2 | g.214990939G>A | CA431388313 | ABCA12 | c.3387C>T (p.Leu1129=) c.2433C>T (p.Leu811=) n.3687C>T n.3885C>T | COSMIC COSMIC |
2 | g.214990939G>C | CA431388310 | ABCA12 | c.3387C>G (p.Leu1129=) c.2433C>G (p.Leu811=) n.3687C>G n.3885C>G | |
2 | g.214990939G>T | CA431388312 | ABCA12 | c.3387C>A (p.Leu1129=) c.2433C>A (p.Leu811=) n.3687C>A n.3885C>A | |
2 | g.214990940A>C | CA350469401 | ABCA12 | c.3386T>G (p.Leu1129Arg) c.2432T>G (p.Leu811Arg) n.3686T>G n.3884T>G | |
2 | g.214990940A>G | CA350469403 | ABCA12 | c.3386T>C (p.Leu1129Pro) c.2432T>C (p.Leu811Pro) n.3686T>C n.3884T>C | |
2 | g.214990940A>T | CA350469405 | ABCA12 | c.3386T>A (p.Leu1129His) c.2432T>A (p.Leu811His) n.3686T>A n.3884T>A | |
2 | g.214990941G>A | CA350469408 | ABCA12 | c.3385C>T (p.Leu1129Phe) c.2431C>T (p.Leu811Phe) n.3685C>T n.3883C>T | |
2 | g.214990941G>C | CA350469410 | ABCA12 | c.3385C>G (p.Leu1129Val) c.2431C>G (p.Leu811Val) n.3685C>G n.3883C>G | |
2 | g.214990941G>T | CA350469413 | ABCA12 | c.3385C>A (p.Leu1129Ile) c.2431C>A (p.Leu811Ile) n.3685C>A n.3883C>A | |
2 | g.214990942G>A | CA431388319 | ABCA12 | c.3384C>T (p.Ile1128=) c.2430C>T (p.Ile810=) n.3684C>T n.3882C>T | |
2 | g.214990942G>C | CA350469415 | ABCA12 | c.3384C>G (p.Ile1128Met) c.2430C>G (p.Ile810Met) n.3684C>G n.3882C>G | |
2 | g.214990942G>T | CA431388321 | ABCA12 | c.3384C>A (p.Ile1128=) c.2430C>A (p.Ile810=) n.3684C>A n.3882C>A | gnomAD v4 |
2 | g.214990943A>C | CA350469418 | ABCA12 | c.3383T>G (p.Ile1128Ser) c.2429T>G (p.Ile810Ser) n.3683T>G n.3881T>G | |
2 | g.214990943A>G | CA350469422 | ABCA12 | c.3383T>C (p.Ile1128Thr) c.2429T>C (p.Ile810Thr) n.3683T>C n.3881T>C | |
2 | g.214990943A>T | CA350469420 | ABCA12 | c.3383T>A (p.Ile1128Asn) c.2429T>A (p.Ile810Asn) n.3683T>A n.3881T>A | |
2 | g.214990944T>A | CA350469424 | ABCA12 | c.3382A>T (p.Ile1128Phe) c.2428A>T (p.Ile810Phe) n.3682A>T n.3880A>T | gnomAD v4 |
2 | g.214990944T>C | CA64827773 | ABCA12 | c.3382A>G (p.Ile1128Val) c.2428A>G (p.Ile810Val) n.3682A>G n.3880A>G | dbSNP |
2 | g.214990944T>G | CA350469427 | ABCA12 | c.3382A>C (p.Ile1128Leu) c.2428A>C (p.Ile810Leu) n.3682A>C n.3880A>C | |
2 | g.214990944T= | CA1327165407 | ABCA12 | c.3382A= (p.Ile1128=) c.2428A= (p.Ile810=) n.3682A= n.3880A= | |
2 | g.214990945C>A | CA431388331 | ABCA12 | c.3381G>T (p.Val1127=) c.2427G>T (p.Val809=) n.3681G>T n.3879G>T | |
2 | g.214990945C>G | CA431388333 | ABCA12 | c.3381G>C (p.Val1127=) c.2427G>C (p.Val809=) n.3681G>C n.3879G>C | |
2 | g.214990945C>T | CA431388334 | ABCA12 | c.3381G>A (p.Val1127=) c.2427G>A (p.Val809=) n.3681G>A n.3879G>A | |
2 | g.214990946A= | CA1327165408 | ABCA12 | c.3380T= (p.Val1127=) c.2426T= (p.Val809=) n.3680T= n.3878T= | |
2 | g.214990946A>C | CA350469429 | ABCA12 | c.3380T>G (p.Val1127Gly) c.2426T>G (p.Val809Gly) n.3680T>G n.3878T>G | |
2 | g.214990946A>G | CA64827781 | ABCA12 | c.3380T>C (p.Val1127Ala) c.2426T>C (p.Val809Ala) n.3680T>C n.3878T>C | dbSNP gnomAD v4 |
2 | g.214990946A>T | CA350469431 | ABCA12 | c.3380T>A (p.Val1127Glu) c.2426T>A (p.Val809Glu) n.3680T>A n.3878T>A | |
2 | g.214990947C>A | CA350469436 | ABCA12 | c.3379G>T (p.Val1127Leu) c.2425G>T (p.Val809Leu) n.3679G>T n.3877G>T | |
2 | g.214990947C= | CA1327165409 | ABCA12 | c.3379G= (p.Val1127=) c.2425G= (p.Val809=) n.3679G= n.3877G= | |
2 | g.214990947C>G | CA350469439 | ABCA12 | c.3379G>C (p.Val1127Leu) c.2425G>C (p.Val809Leu) n.3679G>C n.3877G>C | |
2 | g.214990947C>T | CA2091739 | ABCA12 | c.3379G>A (p.Val1127Met) c.2425G>A (p.Val809Met) n.3679G>A n.3877G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990948G>A | CA2091740 | ABCA12 | c.3378C>T (p.Ile1126=) c.2424C>T (p.Ile808=) n.3678C>T n.3876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214990948G>C | CA350469442 | ABCA12 | c.3378C>G (p.Ile1126Met) c.2424C>G (p.Ile808Met) n.3678C>G n.3876C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990948G= | CA1327165410 | ABCA12 | c.3378C= (p.Ile1126=) c.2424C= (p.Ile808=) n.3678C= n.3876C= | |
2 | g.214990948G>T | CA431388340 | ABCA12 | c.3378C>A (p.Ile1126=) c.2424C>A (p.Ile808=) n.3678C>A n.3876C>A | |
2 | g.214990949A>C | CA350469445 | ABCA12 | c.3377T>G (p.Ile1126Ser) c.2423T>G (p.Ile808Ser) n.3677T>G n.3875T>G | |
2 | g.214990949A>G | CA350469446 | ABCA12 | c.3377T>C (p.Ile1126Thr) c.2423T>C (p.Ile808Thr) n.3677T>C n.3875T>C | gnomAD v4 |
2 | g.214990949A>T | CA350469448 | ABCA12 | c.3377T>A (p.Ile1126Asn) c.2423T>A (p.Ile808Asn) n.3677T>A n.3875T>A | |
2 | g.214990950T>A | CA350469452 | ABCA12 | c.3376A>T (p.Ile1126Phe) c.2422A>T (p.Ile808Phe) n.3676A>T n.3874A>T | |
2 | g.214990950T>C | CA350469454 | ABCA12 | c.3376A>G (p.Ile1126Val) c.2422A>G (p.Ile808Val) n.3676A>G n.3874A>G | |
2 | g.214990950T>G | CA64827826 | ABCA12 | c.3376A>C (p.Ile1126Leu) c.2422A>C (p.Ile808Leu) n.3676A>C n.3874A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990950T= | CA1327165411 | ABCA12 | c.3376A= (p.Ile1126=) c.2422A= (p.Ile808=) n.3676A= n.3874A= | |
2 | g.214990951G>A | CA431388345 | ABCA12 | c.3375C>T (p.Thr1125=) c.2421C>T (p.Thr807=) n.3675C>T n.3873C>T | |
2 | g.214990951G>C | CA431388346 | ABCA12 | c.3375C>G (p.Thr1125=) c.2421C>G (p.Thr807=) n.3675C>G n.3873C>G | |
2 | g.214990951G>T | CA431388376 | ABCA12 | c.3375C>A (p.Thr1125=) c.2421C>A (p.Thr807=) n.3675C>A n.3873C>A | gnomAD v4 |
2 | g.214990952G>A | CA350469457 | ABCA12 | c.3374C>T (p.Thr1125Ile) c.2420C>T (p.Thr807Ile) n.3674C>T n.3872C>T | dbSNP gnomAD v4 |
2 | g.214990952G>C | CA350469458 | ABCA12 | c.3374C>G (p.Thr1125Ser) c.2420C>G (p.Thr807Ser) n.3674C>G n.3872C>G | |
2 | g.214990952G= | CA1327165412 | ABCA12 | c.3374C= (p.Thr1125=) c.2420C= (p.Thr807=) n.3674C= n.3872C= | |
2 | g.214990952G>T | CA350469460 | ABCA12 | c.3374C>A (p.Thr1125Asn) c.2420C>A (p.Thr807Asn) n.3674C>A n.3872C>A | |
2 | g.214990953T>A | CA350469463 | ABCA12 | c.3373A>T (p.Thr1125Ser) c.2419A>T (p.Thr807Ser) n.3673A>T n.3871A>T | |
2 | g.214990953T>C | CA350469465 | ABCA12 | c.3373A>G (p.Thr1125Ala) c.2419A>G (p.Thr807Ala) n.3673A>G n.3871A>G | |
2 | g.214990953T>G | CA350469466 | ABCA12 | c.3373A>C (p.Thr1125Pro) c.2419A>C (p.Thr807Pro) n.3673A>C n.3871A>C | gnomAD v4 |
2 | g.214990954A>C | CA431388377 | ABCA12 | c.3372T>G (p.Val1124=) c.2418T>G (p.Val806=) n.3672T>G n.3870T>G | |
2 | g.214990954A>G | CA431388378 | ABCA12 | c.3372T>C (p.Val1124=) c.2418T>C (p.Val806=) n.3672T>C n.3870T>C | |
2 | g.214990954A>T | CA431388379 | ABCA12 | c.3372T>A (p.Val1124=) c.2418T>A (p.Val806=) n.3672T>A n.3870T>A | |
2 | g.214990955A>C | CA350469469 | ABCA12 | c.3371T>G (p.Val1124Gly) c.2417T>G (p.Val806Gly) n.3671T>G n.3869T>G | |
2 | g.214990955A>G | CA350469473 | ABCA12 | c.3371T>C (p.Val1124Ala) c.2417T>C (p.Val806Ala) n.3671T>C n.3869T>C | |
2 | g.214990955A>T | CA350469471 | ABCA12 | c.3371T>A (p.Val1124Asp) c.2417T>A (p.Val806Asp) n.3671T>A n.3869T>A | |
2 | g.214990956_214990958del | CA2662978896 | ABCA12 | c.3369_3371del (p.Val1124del) c.2415_2417del (p.Val806del) n.3669_3671del n.3867_3869del | gnomAD v4 |
2 | g.214990956C>A | CA350469476 | ABCA12 | c.3370G>T (p.Val1124Phe) c.2416G>T (p.Val806Phe) n.3670G>T n.3868G>T | |
2 | g.214990956C>G | CA350469477 | ABCA12 | c.3370G>C (p.Val1124Leu) c.2416G>C (p.Val806Leu) n.3670G>C n.3868G>C | |
2 | g.214990956C>T | CA350469480 | ABCA12 | c.3370G>A (p.Val1124Ile) c.2416G>A (p.Val806Ile) n.3670G>A n.3868G>A | gnomAD v4 |
2 | g.214990957C>A | CA431388380 | ABCA12 | c.3369G>T (p.Leu1123=) c.2415G>T (p.Leu805=) n.3669G>T n.3867G>T | |
2 | g.214990957C>G | CA431388381 | ABCA12 | c.3369G>C (p.Leu1123=) c.2415G>C (p.Leu805=) n.3669G>C n.3867G>C | |
2 | g.214990957C>T | CA431388382 | ABCA12 | c.3369G>A (p.Leu1123=) c.2415G>A (p.Leu805=) n.3669G>A n.3867G>A | |
2 | g.214990958A>C | CA350469482 | ABCA12 | c.3368T>G (p.Leu1123Arg) c.2414T>G (p.Leu805Arg) n.3668T>G n.3866T>G | |
2 | g.214990958A>G | CA350469484 | ABCA12 | c.3368T>C (p.Leu1123Pro) c.2414T>C (p.Leu805Pro) n.3668T>C n.3866T>C | |
2 | g.214990958A>T | CA350469486 | ABCA12 | c.3368T>A (p.Leu1123Gln) c.2414T>A (p.Leu805Gln) n.3668T>A n.3866T>A | |
2 | g.214990959G>A | CA431388383 | ABCA12 | c.3367C>T (p.Leu1123=) c.2413C>T (p.Leu805=) n.3667C>T n.3865C>T | gnomAD v4 |
2 | g.214990959G>C | CA350469488 | ABCA12 | c.3367C>G (p.Leu1123Val) c.2413C>G (p.Leu805Val) n.3667C>G n.3865C>G | |
2 | g.214990959G>T | CA350469490 | ABCA12 | c.3367C>A (p.Leu1123Met) c.2413C>A (p.Leu805Met) n.3667C>A n.3865C>A | |
2 | g.214990960T>A | CA350469493 | ABCA12 | c.3366A>T (p.Leu1122Phe) c.2412A>T (p.Leu804Phe) n.3666A>T n.3864A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214990960T>C | CA431388384 | ABCA12 | c.3366A>G (p.Leu1122=) c.2412A>G (p.Leu804=) n.3666A>G n.3864A>G | |
2 | g.214990960T>G | CA350469494 | ABCA12 | c.3366A>C (p.Leu1122Phe) c.2412A>C (p.Leu804Phe) n.3666A>C n.3864A>C | |
2 | g.214990960T= | CA1327165413 | ABCA12 | c.3366A= (p.Leu1122=) c.2412A= (p.Leu804=) n.3666A= n.3864A= | |
2 | g.214990960_214990961insG | CA539837476 | ABCA12 | c.3365_3366insC (p.Leu1122PhefsTer20) c.2411_2412insC (p.Leu804PhefsTer20) n.3665_3666insC n.3863_3864insC | dbSNP gnomAD v2 |
2 | g.214990961A= | CA1327165414 | ABCA12 | c.3365T= (p.Leu1122=) c.2411T= (p.Leu804=) n.3665T= n.3863T= | |
2 | g.214990961A>C | CA350469498 | ABCA12 | c.3365T>G (p.Leu1122Ter) c.2411T>G (p.Leu804Ter) n.3665T>G n.3863T>G | |
2 | g.214990961A>G | CA350469500 | ABCA12 | c.3365T>C (p.Leu1122Ser) c.2411T>C (p.Leu804Ser) n.3665T>C n.3863T>C | dbSNP gnomAD v2 |
2 | g.214990961A>T | CA350469497 | ABCA12 | c.3365T>A (p.Leu1122Ter) c.2411T>A (p.Leu804Ter) n.3665T>A n.3863T>A | |
2 | g.214990962A= | CA1327165415 | ABCA12 | c.3364T= (p.Leu1122=) c.2410T= (p.Leu804=) n.3664T= n.3862T= | |
2 | g.214990962A>C | CA350469502 | ABCA12 | c.3364T>G (p.Leu1122Val) c.2410T>G (p.Leu804Val) n.3664T>G n.3862T>G | dbSNP |
2 | g.214990962A>G | CA431388386 | ABCA12 | c.3364T>C (p.Leu1122=) c.2410T>C (p.Leu804=) n.3664T>C n.3862T>C | |
2 | g.214990962A>T | CA350469505 | ABCA12 | c.3364T>A (p.Leu1122Ile) c.2410T>A (p.Leu804Ile) n.3664T>A n.3862T>A | |
2 | g.214990963A= | CA1327165416 | ABCA12 | c.3363T= (p.Phe1121=) c.2409T= (p.Phe803=) n.3663T= n.3861T= | |
2 | g.214990963A>C | CA350469509 | ABCA12 | c.3363T>G (p.Phe1121Leu) c.2409T>G (p.Phe803Leu) n.3663T>G n.3861T>G | |
2 | g.214990963A>G | CA431388387 | ABCA12 | c.3363T>C (p.Phe1121=) c.2409T>C (p.Phe803=) n.3663T>C n.3861T>C | dbSNP gnomAD v2 |
2 | g.214990963A>T | CA350469511 | ABCA12 | c.3363T>A (p.Phe1121Leu) c.2409T>A (p.Phe803Leu) n.3663T>A n.3861T>A | |
2 | g.214990964A>C | CA350469515 | ABCA12 | c.3362T>G (p.Phe1121Cys) c.2408T>G (p.Phe803Cys) n.3662T>G n.3860T>G | |
2 | g.214990964A>G | CA350469518 | ABCA12 | c.3362T>C (p.Phe1121Ser) c.2408T>C (p.Phe803Ser) n.3662T>C n.3860T>C | |
2 | g.214990964A>T | CA350469520 | ABCA12 | c.3362T>A (p.Phe1121Tyr) c.2408T>A (p.Phe803Tyr) n.3662T>A n.3860T>A | |
2 | g.214990965A>C | CA350469523 | ABCA12 | c.3361T>G (p.Phe1121Val) c.2407T>G (p.Phe803Val) n.3661T>G n.3859T>G | |
2 | g.214990965A>G | CA350469525 | ABCA12 | c.3361T>C (p.Phe1121Leu) c.2407T>C (p.Phe803Leu) n.3661T>C n.3859T>C | |
2 | g.214990965A>T | CA350469527 | ABCA12 | c.3361T>A (p.Phe1121Ile) c.2407T>A (p.Phe803Ile) n.3661T>A n.3859T>A | |
2 | g.214990966T>A | CA431388391 | ABCA12 | c.3360A>T (p.Gly1120=) c.2406A>T (p.Gly802=) n.3660A>T n.3858A>T | gnomAD v4 |
2 | g.214990966T>C | CA2091741 | ABCA12 | c.3360A>G (p.Gly1120=) c.2406A>G (p.Gly802=) n.3660A>G n.3858A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990966T>G | CA431388392 | ABCA12 | c.3360A>C (p.Gly1120=) c.2406A>C (p.Gly802=) n.3660A>C n.3858A>C | |
2 | g.214990966T= | CA1327165417 | ABCA12 | c.3360A= (p.Gly1120=) c.2406A= (p.Gly802=) n.3660A= n.3858A= | |
2 | g.214990967C>A | CA2091742 | ABCA12 | c.3359G>T (p.Gly1120Val) c.2405G>T (p.Gly802Val) n.3659G>T n.3857G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214990967C= | CA1327165418 | ABCA12 | c.3359G= (p.Gly1120=) c.2405G= (p.Gly802=) n.3659G= n.3857G= | |
2 | g.214990967C>G | CA350469539 | ABCA12 | c.3359G>C (p.Gly1120Ala) c.2405G>C (p.Gly802Ala) n.3659G>C n.3857G>C | |
2 | g.214990967C>T | CA350469533 | ABCA12 | c.3359G>A (p.Gly1120Glu) c.2405G>A (p.Gly802Glu) n.3659G>A n.3857G>A | gnomAD v4 |
2 | g.214990968C>A | CA350469542 | ABCA12 | c.3358G>T (p.Gly1120Ter) c.2404G>T (p.Gly802Ter) n.3658G>T n.3856G>T | |
2 | g.214990968C>G | CA350469546 | ABCA12 | c.3358G>C (p.Gly1120Arg) c.2404G>C (p.Gly802Arg) n.3658G>C n.3856G>C | |
2 | g.214990968C>T | CA350469548 | ABCA12 | c.3358G>A (p.Gly1120Arg) c.2404G>A (p.Gly802Arg) n.3658G>A n.3856G>A | |
2 | g.214990969A>C | CA431388393 | ABCA12 | c.3357T>G (p.Val1119=) c.2403T>G (p.Val801=) n.3657T>G n.3855T>G | |
2 | g.214990969A>G | CA431388395 | ABCA12 | c.3357T>C (p.Val1119=) c.2403T>C (p.Val801=) n.3657T>C n.3855T>C | |
2 | g.214990969A>T | CA431388394 | ABCA12 | c.3357T>A (p.Val1119=) c.2403T>A (p.Val801=) n.3657T>A n.3855T>A | |
2 | g.214990970A>C | CA350469550 | ABCA12 | c.3356T>G (p.Val1119Gly) c.2402T>G (p.Val801Gly) n.3656T>G n.3854T>G | |
2 | g.214990970A>G | CA350469551 | ABCA12 | c.3356T>C (p.Val1119Ala) c.2402T>C (p.Val801Ala) n.3656T>C n.3854T>C | gnomAD v4 |
2 | g.214990970A>T | CA350469553 | ABCA12 | c.3356T>A (p.Val1119Asp) c.2402T>A (p.Val801Asp) n.3656T>A n.3854T>A | |
2 | g.214990971C>A | CA350469557 | ABCA12 | c.3355G>T (p.Val1119Phe) c.2401G>T (p.Val801Phe) n.3655G>T n.3853G>T | gnomAD v4 |
2 | g.214990971C>G | CA350469568 | ABCA12 | c.3355G>C (p.Val1119Leu) c.2401G>C (p.Val801Leu) n.3655G>C n.3853G>C | |
2 | g.214990971C>T | CA350469567 | ABCA12 | c.3355G>A (p.Val1119Ile) c.2401G>A (p.Val801Ile) n.3655G>A n.3853G>A | ClinVar |
2 | g.214990972A= | CA1327165419 | ABCA12 | c.3354T= (p.Ser1118=) c.2400T= (p.Ser800=) n.3654T= n.3852T= | |
2 | g.214990972A>C | CA350469569 | ABCA12 | c.3354T>G (p.Ser1118Arg) c.2400T>G (p.Ser800Arg) n.3654T>G n.3852T>G | dbSNP gnomAD v2 |
2 | g.214990972A>G | CA431388399 | ABCA12 | c.3354T>C (p.Ser1118=) c.2400T>C (p.Ser800=) n.3654T>C n.3852T>C | ClinVar |
2 | g.214990972A>T | CA350469570 | ABCA12 | c.3354T>A (p.Ser1118Arg) c.2400T>A (p.Ser800Arg) n.3654T>A n.3852T>A | |
2 | g.214990973C>A | CA350469572 | ABCA12 | c.3353G>T (p.Ser1118Ile) c.2399G>T (p.Ser800Ile) n.3653G>T n.3851G>T | |
2 | g.214990973C= | CA1327165420 | ABCA12 | c.3353G= (p.Ser1118=) c.2399G= (p.Ser800=) n.3653G= n.3851G= | |
2 | g.214990973C>G | CA350469574 | ABCA12 | c.3353G>C (p.Ser1118Thr) c.2399G>C (p.Ser800Thr) n.3653G>C n.3851G>C | |
2 | g.214990973C>T | CA350469576 | ABCA12 | c.3353G>A (p.Ser1118Asn) c.2399G>A (p.Ser800Asn) n.3653G>A n.3851G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990974T>A | CA350469584 | ABCA12 | c.3352A>T (p.Ser1118Cys) c.2398A>T (p.Ser800Cys) n.3652A>T n.3850A>T | gnomAD v4 |
2 | g.214990974T>C | CA350469583 | ABCA12 | c.3352A>G (p.Ser1118Gly) c.2398A>G (p.Ser800Gly) n.3652A>G n.3850A>G | gnomAD v4 |
2 | g.214990974T>G | CA350469582 | ABCA12 | c.3352A>C (p.Ser1118Arg) c.2398A>C (p.Ser800Arg) n.3652A>C n.3850A>C | |
2 | g.214990975C>A | CA350469588 | ABCA12 | c.3351G>T (p.Glu1117Asp) c.2397G>T (p.Glu799Asp) n.3651G>T n.3849G>T | |
2 | g.214990975C= | CA1327165421 | ABCA12 | c.3351G= (p.Glu1117=) c.2397G= (p.Glu799=) n.3651G= n.3849G= | |
2 | g.214990975C>G | CA350469586 | ABCA12 | c.3351G>C (p.Glu1117Asp) c.2397G>C (p.Glu799Asp) n.3651G>C n.3849G>C | |
2 | g.214990975C>T | CA2091743 | ABCA12 | c.3351G>A (p.Glu1117=) c.2397G>A (p.Glu799=) n.3651G>A n.3849G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990976T>A | CA350469591 | ABCA12 | c.3350A>T (p.Glu1117Val) c.2396A>T (p.Glu799Val) n.3650A>T n.3848A>T | |
2 | g.214990976T>C | CA350469593 | ABCA12 | c.3350A>G (p.Glu1117Gly) c.2396A>G (p.Glu799Gly) n.3650A>G n.3848A>G | |
2 | g.214990976T>G | CA350469594 | ABCA12 | c.3350A>C (p.Glu1117Ala) c.2396A>C (p.Glu799Ala) n.3650A>C n.3848A>C | |
2 | g.214990977C>A | CA350469595 | ABCA12 | c.3349G>T (p.Glu1117Ter) c.2395G>T (p.Glu799Ter) n.3649G>T n.3847G>T | |
2 | g.214990977C>G | CA350469596 | ABCA12 | c.3349G>C (p.Glu1117Gln) c.2395G>C (p.Glu799Gln) n.3649G>C n.3847G>C | |
2 | g.214990977C>T | CA350469597 | ABCA12 | c.3349G>A (p.Glu1117Lys) c.2395G>A (p.Glu799Lys) n.3649G>A n.3847G>A | |
2 | g.214990978T>A | CA431388401 | ABCA12 | c.3348A>T (p.Ile1116=) c.2394A>T (p.Ile798=) n.3648A>T n.3846A>T | |
2 | g.214990978T>C | CA350469598 | ABCA12 | c.3348A>G (p.Ile1116Met) c.2394A>G (p.Ile798Met) n.3648A>G n.3846A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990978T>G | CA431388403 | ABCA12 | c.3348A>C (p.Ile1116=) c.2394A>C (p.Ile798=) n.3648A>C n.3846A>C | gnomAD v4 |
2 | g.214990978T= | CA1327165422 | ABCA12 | c.3348A= (p.Ile1116=) c.2394A= (p.Ile798=) n.3648A= n.3846A= | |
2 | g.214990979A>C | CA350469599 | ABCA12 | c.3347T>G (p.Ile1116Arg) c.2393T>G (p.Ile798Arg) n.3647T>G n.3845T>G | |
2 | g.214990979A>G | CA350469601 | ABCA12 | c.3347T>C (p.Ile1116Thr) c.2393T>C (p.Ile798Thr) n.3647T>C n.3845T>C | |
2 | g.214990979A>T | CA350469603 | ABCA12 | c.3347T>A (p.Ile1116Lys) c.2393T>A (p.Ile798Lys) n.3647T>A n.3845T>A | |
2 | g.214990980T>A | CA350469605 | ABCA12 | c.3346A>T (p.Ile1116Leu) c.2392A>T (p.Ile798Leu) n.3646A>T n.3844A>T | |
2 | g.214990980T>C | CA350469607 | ABCA12 | c.3346A>G (p.Ile1116Val) c.2392A>G (p.Ile798Val) n.3646A>G n.3844A>G | |
2 | g.214990980T>G | CA350469609 | ABCA12 | c.3346A>C (p.Ile1116Leu) c.2392A>C (p.Ile798Leu) n.3646A>C n.3844A>C | |
2 | g.214990981A= | CA1327165423 | ABCA12 | c.3345T= (p.Leu1115=) c.2391T= (p.Leu797=) n.3645T= n.3843T= | |
2 | g.214990981A>C | CA431388388 | ABCA12 | c.3345T>G (p.Leu1115=) c.2391T>G (p.Leu797=) n.3645T>G n.3843T>G | |
2 | g.214990981A>G | CA431388389 | ABCA12 | c.3345T>C (p.Leu1115=) c.2391T>C (p.Leu797=) n.3645T>C n.3843T>C | ClinVar dbSNP |
2 | g.214990981A>T | CA431388390 | ABCA12 | c.3345T>A (p.Leu1115=) c.2391T>A (p.Leu797=) n.3645T>A n.3843T>A | |
2 | g.214990982A>C | CA350469611 | ABCA12 | c.3344T>G (p.Leu1115Arg) c.2390T>G (p.Leu797Arg) n.3644T>G n.3842T>G | |
2 | g.214990982A>G | CA350469614 | ABCA12 | c.3344T>C (p.Leu1115Pro) c.2390T>C (p.Leu797Pro) n.3644T>C n.3842T>C | |
2 | g.214990982A>T | CA350469612 | ABCA12 | c.3344T>A (p.Leu1115His) c.2390T>A (p.Leu797His) n.3644T>A n.3842T>A | |
2 | g.214990983G>A | CA350469616 | ABCA12 | c.3343C>T (p.Leu1115Phe) c.2389C>T (p.Leu797Phe) n.3643C>T n.3841C>T | gnomAD v4 |
2 | g.214990983G>C | CA350469617 | ABCA12 | c.3343C>G (p.Leu1115Val) c.2389C>G (p.Leu797Val) n.3643C>G n.3841C>G | |
2 | g.214990983G>T | CA350469618 | ABCA12 | c.3343C>A (p.Leu1115Ile) c.2389C>A (p.Leu797Ile) n.3643C>A n.3841C>A | |
2 | g.214990984C>A | CA350469620 | ABCA12 | c.3342G>T (p.Trp1114Cys) c.2388G>T (p.Trp796Cys) n.3642G>T n.3840G>T | |
2 | g.214990984C>G | CA350469621 | ABCA12 | c.3342G>C (p.Trp1114Cys) c.2388G>C (p.Trp796Cys) n.3642G>C n.3840G>C | |
2 | g.214990984C>T | CA350469623 | ABCA12 | c.3342G>A (p.Trp1114Ter) c.2388G>A (p.Trp796Ter) n.3642G>A n.3840G>A | |
2 | g.214990985C>A | CA350469625 | ABCA12 | c.3341G>T (p.Trp1114Leu) c.2387G>T (p.Trp796Leu) n.3641G>T n.3839G>T | |
2 | g.214990985C>G | CA350469627 | ABCA12 | c.3341G>C (p.Trp1114Ser) c.2387G>C (p.Trp796Ser) n.3641G>C n.3839G>C | |
2 | g.214990985C>T | CA350469628 | ABCA12 | c.3341G>A (p.Trp1114Ter) c.2387G>A (p.Trp796Ter) n.3641G>A n.3839G>A | |
2 | g.214990986A>C | CA350469630 | ABCA12 | c.3340T>G (p.Trp1114Gly) c.2386T>G (p.Trp796Gly) n.3640T>G n.3838T>G | |
2 | g.214990986A>G | CA350469632 | ABCA12 | c.3340T>C (p.Trp1114Arg) c.2386T>C (p.Trp796Arg) n.3640T>C n.3838T>C | |
2 | g.214990986A>T | CA350469634 | ABCA12 | c.3340T>A (p.Trp1114Arg) c.2386T>A (p.Trp796Arg) n.3640T>A n.3838T>A |