Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214978747_214978773del | CA2662978090 | ABCA12 | c.4977+32_4977+58del (n.4977+32_4977+58del) c.4023+32_4023+58del (n.4023+32_4023+58del) n.5277+32_5277+58del c.4986+32_4986+58del (n.4986+32_4986+58del) n.5475+32_5475+58del | gnomAD v4 |
2 | g.214978752G>A | CA2662978093 | ABCA12 | c.4977+52C>T (n.4977+52C>T) c.4023+52C>T (n.4023+52C>T) n.5277+52C>T c.4986+52C>T (n.4986+52C>T) n.5475+52C>T | gnomAD v4 |
2 | g.214978753G>A | CA2662978094 | ABCA12 | c.4977+51C>T (n.4977+51C>T) c.4023+51C>T (n.4023+51C>T) n.5277+51C>T c.4986+51C>T (n.4986+51C>T) n.5475+51C>T | gnomAD v4 |
2 | g.214978753G>C | CA2662978095 | ABCA12 | c.4977+51C>G (n.4977+51C>G) c.4023+51C>G (n.4023+51C>G) n.5277+51C>G c.4986+51C>G (n.4986+51C>G) n.5475+51C>G | gnomAD v4 |
2 | g.214978756C= | CA1327160287 | ABCA12 | c.4977+48G= (n.4977+48G=) c.4023+48G= (n.4023+48G=) n.5277+48G= c.4986+48G= (n.4986+48G=) n.5475+48G= | |
2 | g.214978756C>G | CA539837551 | ABCA12 | c.4977+48G>C (n.4977+48G>C) c.4023+48G>C (n.4023+48G>C) n.5277+48G>C c.4986+48G>C (n.4986+48G>C) n.5475+48G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978756C>T | CA539837552 | ABCA12 | c.4977+48G>A (n.4977+48G>A) c.4023+48G>A (n.4023+48G>A) n.5277+48G>A c.4986+48G>A (n.4986+48G>A) n.5475+48G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978757A= | CA1327160288 | ABCA12 | c.4977+47T= (n.4977+47T=) c.4023+47T= (n.4023+47T=) n.5277+47T= c.4986+47T= (n.4986+47T=) n.5475+47T= | |
2 | g.214978757A>G | CA1042216787 | ABCA12 | c.4977+47T>C (n.4977+47T>C) c.4023+47T>C (n.4023+47T>C) n.5277+47T>C c.4986+47T>C (n.4986+47T>C) n.5475+47T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214978758G>A | CA764596290 | ABCA12 | c.4977+46C>T (n.4977+46C>T) c.4023+46C>T (n.4023+46C>T) n.5277+46C>T c.4986+46C>T (n.4986+46C>T) n.5475+46C>T | dbSNP gnomAD v4 |
2 | g.214978758G= | CA1327160289 | ABCA12 | c.4977+46C= (n.4977+46C=) c.4023+46C= (n.4023+46C=) n.5277+46C= c.4986+46C= (n.4986+46C=) n.5475+46C= | |
2 | g.214978759C= | CA1327160290 | ABCA12 | c.4977+45G= (n.4977+45G=) c.4023+45G= (n.4023+45G=) n.5277+45G= c.4986+45G= (n.4986+45G=) n.5475+45G= | |
2 | g.214978759C>T | CA764596294 | ABCA12 | c.4977+45G>A (n.4977+45G>A) c.4023+45G>A (n.4023+45G>A) n.5277+45G>A c.4986+45G>A (n.4986+45G>A) n.5475+45G>A | dbSNP |
2 | g.214978761A= | CA1327160291 | ABCA12 | c.4977+43T= (n.4977+43T=) c.4023+43T= (n.4023+43T=) n.5277+43T= c.4986+43T= (n.4986+43T=) n.5475+43T= | |
2 | g.214978761A>C | CA2662978103 | ABCA12 | c.4977+43T>G (n.4977+43T>G) c.4023+43T>G (n.4023+43T>G) n.5277+43T>G c.4986+43T>G (n.4986+43T>G) n.5475+43T>G | gnomAD v4 |
2 | g.214978761A>G | CA1327160292 | ABCA12 | c.4977+43T>C (n.4977+43T>C) c.4023+43T>C (n.4023+43T>C) n.5277+43T>C c.4986+43T>C (n.4986+43T>C) n.5475+43T>C | dbSNP |
2 | g.214978761A>T | CA2577234952 | ABCA12 | c.4977+43T>A (n.4977+43T>A) c.4023+43T>A (n.4023+43T>A) n.5277+43T>A c.4986+43T>A (n.4986+43T>A) n.5475+43T>A | |
2 | g.214978762G>C | CA2662978105 | ABCA12 | c.4977+42C>G (n.4977+42C>G) c.4023+42C>G (n.4023+42C>G) n.5277+42C>G c.4986+42C>G (n.4986+42C>G) n.5475+42C>G | gnomAD v4 |
2 | g.214978763T>A | CA1042216788 | ABCA12 | c.4977+41A>T (n.4977+41A>T) c.4023+41A>T (n.4023+41A>T) n.5277+41A>T c.4986+41A>T (n.4986+41A>T) n.5475+41A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214978763T= | CA1327160293 | ABCA12 | c.4977+41A= (n.4977+41A=) c.4023+41A= (n.4023+41A=) n.5277+41A= c.4986+41A= (n.4986+41A=) n.5475+41A= | |
2 | g.214978764T>C | CA2577234953 | ABCA12 | c.4977+40A>G (n.4977+40A>G) c.4023+40A>G (n.4023+40A>G) n.5277+40A>G c.4986+40A>G (n.4986+40A>G) n.5475+40A>G | |
2 | g.214978766T>C | CA2662978106 | ABCA12 | c.4977+38A>G (n.4977+38A>G) c.4023+38A>G (n.4023+38A>G) n.5277+38A>G c.4986+38A>G (n.4986+38A>G) n.5475+38A>G | gnomAD v4 |
2 | g.214978767A= | CA1327160294 | ABCA12 | c.4977+37T= (n.4977+37T=) c.4023+37T= (n.4023+37T=) n.5277+37T= c.4986+37T= (n.4986+37T=) n.5475+37T= | |
2 | g.214978767A>G | CA764596295 | ABCA12 | c.4977+37T>C (n.4977+37T>C) c.4023+37T>C (n.4023+37T>C) n.5277+37T>C c.4986+37T>C (n.4986+37T>C) n.5475+37T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214978769C>A | CA2514415089 | ABCA12 | c.4977+35G>T (n.4977+35G>T) c.4023+35G>T (n.4023+35G>T) n.5277+35G>T c.4986+35G>T (n.4986+35G>T) n.5475+35G>T | |
2 | g.214978769C= | CA1327160295 | ABCA12 | c.4977+35G= (n.4977+35G=) c.4023+35G= (n.4023+35G=) n.5277+35G= c.4986+35G= (n.4986+35G=) n.5475+35G= | |
2 | g.214978769C>T | CA64813508 | ABCA12 | c.4977+35G>A (n.4977+35G>A) c.4023+35G>A (n.4023+35G>A) n.5277+35G>A c.4986+35G>A (n.4986+35G>A) n.5475+35G>A | dbSNP |
2 | g.214978770A= | CA1327160296 | ABCA12 | c.4977+34T= (n.4977+34T=) c.4023+34T= (n.4023+34T=) n.5277+34T= c.4986+34T= (n.4986+34T=) n.5475+34T= | |
2 | g.214978770A>G | CA2091335 | ABCA12 | c.4977+34T>C (n.4977+34T>C) c.4023+34T>C (n.4023+34T>C) n.5277+34T>C c.4986+34T>C (n.4986+34T>C) n.5475+34T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978771G>A | CA2662978108 | ABCA12 | c.4977+33C>T (n.4977+33C>T) c.4023+33C>T (n.4023+33C>T) n.5277+33C>T c.4986+33C>T (n.4986+33C>T) n.5475+33C>T | gnomAD v4 |
2 | g.214978771G>T | CA2662978109 | ABCA12 | c.4977+33C>A (n.4977+33C>A) c.4023+33C>A (n.4023+33C>A) n.5277+33C>A c.4986+33C>A (n.4986+33C>A) n.5475+33C>A | gnomAD v4 |
2 | g.214978773T>C | CA2503530746 | ABCA12 | c.4977+31A>G (n.4977+31A>G) c.4023+31A>G (n.4023+31A>G) n.5277+31A>G c.4986+31A>G (n.4986+31A>G) n.5475+31A>G | gnomAD v4 |
2 | g.214978774T>C | CA539837553 | ABCA12 | c.4977+30A>G (n.4977+30A>G) c.4023+30A>G (n.4023+30A>G) n.5277+30A>G c.4986+30A>G (n.4986+30A>G) n.5475+30A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978774T= | CA1327160297 | ABCA12 | c.4977+30A= (n.4977+30A=) c.4023+30A= (n.4023+30A=) n.5277+30A= c.4986+30A= (n.4986+30A=) n.5475+30A= | |
2 | g.214978776A= | CA1327160298 | ABCA12 | c.4977+28T= (n.4977+28T=) c.4023+28T= (n.4023+28T=) n.5277+28T= c.4986+28T= (n.4986+28T=) n.5475+28T= | |
2 | g.214978776A>C | CA539837554 | ABCA12 | c.4977+28T>G (n.4977+28T>G) c.4023+28T>G (n.4023+28T>G) n.5277+28T>G c.4986+28T>G (n.4986+28T>G) n.5475+28T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978777A>G | CA2754209619 | ABCA12 | c.4977+27T>C (n.4977+27T>C) c.4023+27T>C (n.4023+27T>C) n.5277+27T>C c.4986+27T>C (n.4986+27T>C) n.5475+27T>C | |
2 | g.214978778G= | CA1327160299 | ABCA12 | c.4977+26C= (n.4977+26C=) c.4023+26C= (n.4023+26C=) n.5277+26C= c.4986+26C= (n.4986+26C=) n.5475+26C= | |
2 | g.214978778G>T | CA539837555 | ABCA12 | c.4977+26C>A (n.4977+26C>A) c.4023+26C>A (n.4023+26C>A) n.5277+26C>A c.4986+26C>A (n.4986+26C>A) n.5475+26C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978779A>G | CA2577234954 | ABCA12 | c.4977+25T>C (n.4977+25T>C) c.4023+25T>C (n.4023+25T>C) n.5277+25T>C c.4986+25T>C (n.4986+25T>C) n.5475+25T>C | |
2 | g.214978786dup | CA2091336 | ABCA12 | c.4977+25dup (n.4977+25dup) c.4023+25dup (n.4023+25dup) n.5277+25dup c.4986+25dup (n.4986+25dup) n.5475+25dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978786del | CA2662978116 | ABCA12 | c.4977+25del (n.4977+25del) c.4023+25del (n.4023+25del) n.5277+25del c.4986+25del (n.4986+25del) n.5475+25del | gnomAD v4 |
2 | g.214978780A= | CA1327160300 | ABCA12 | c.4977+24T= (n.4977+24T=) c.4023+24T= (n.4023+24T=) n.5277+24T= c.4986+24T= (n.4986+24T=) n.5475+24T= | |
2 | g.214978780A>C | CA539837556 | ABCA12 | c.4977+24T>G (n.4977+24T>G) c.4023+24T>G (n.4023+24T>G) n.5277+24T>G c.4986+24T>G (n.4986+24T>G) n.5475+24T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978780A>G | CA1042216793 | ABCA12 | c.4977+24T>C (n.4977+24T>C) c.4023+24T>C (n.4023+24T>C) n.5277+24T>C c.4986+24T>C (n.4986+24T>C) n.5475+24T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214978781A= | CA1327160301 | ABCA12 | c.4977+23T= (n.4977+23T=) c.4023+23T= (n.4023+23T=) n.5277+23T= c.4986+23T= (n.4986+23T=) n.5475+23T= | |
2 | g.214978781A>G | CA539837557 | ABCA12 | c.4977+23T>C (n.4977+23T>C) c.4023+23T>C (n.4023+23T>C) n.5277+23T>C c.4986+23T>C (n.4986+23T>C) n.5475+23T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978782A>G | CA2662978121 | ABCA12 | c.4977+22T>C (n.4977+22T>C) c.4023+22T>C (n.4023+22T>C) n.5277+22T>C c.4986+22T>C (n.4986+22T>C) n.5475+22T>C | gnomAD v4 |
2 | g.214978784A>T | CA2739279714 | ABCA12 | c.4977+20T>A (n.4977+20T>A) c.4023+20T>A (n.4023+20T>A) n.5277+20T>A c.4986+20T>A (n.4986+20T>A) n.5475+20T>A | ClinVar |
2 | g.214978784_214978787delinsAAAG | CA1327160302 | ABCA12 | c.4977+17_4977+20delinsCTTT (n.4977+17_4977+20delinsCTTT) c.4023+17_4023+20delinsCTTT (n.4023+17_4023+20delinsCTTT) n.5277+17_5277+20delinsCTTT c.4986+17_4986+20delinsCTTT (n.4986+17_4986+20delinsCTTT) n.5475+17_5475+20delinsCTTT | |
2 | g.214978787_214978789del | CA2091337 | ABCA12 | c.4977+17_4977+19del (n.4977+17_4977+19del) c.4023+17_4023+19del (n.4023+17_4023+19del) n.5277+17_5277+19del c.4986+17_4986+19del (n.4986+17_4986+19del) n.5475+17_5475+19del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978789A= | CA1327160303 | ABCA12 | c.4977+15T= (n.4977+15T=) c.4023+15T= (n.4023+15T=) n.5277+15T= c.4986+15T= (n.4986+15T=) n.5475+15T= | |
2 | g.214978789A>T | CA539837558 | ABCA12 | c.4977+15T>A (n.4977+15T>A) c.4023+15T>A (n.4023+15T>A) n.5277+15T>A c.4986+15T>A (n.4986+15T>A) n.5475+15T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978790A>C | CA2662978128 | ABCA12 | c.4977+14T>G (n.4977+14T>G) c.4023+14T>G (n.4023+14T>G) n.5277+14T>G c.4986+14T>G (n.4986+14T>G) n.5475+14T>G | gnomAD v4 |
2 | g.214978790A>G | CA2697550429 | ABCA12 | c.4977+14T>C (n.4977+14T>C) c.4023+14T>C (n.4023+14T>C) n.5277+14T>C c.4986+14T>C (n.4986+14T>C) n.5475+14T>C | ClinVar |
2 | g.214978793T>C | CA2754209620 | ABCA12 | c.4977+11A>G (n.4977+11A>G) c.4023+11A>G (n.4023+11A>G) n.5277+11A>G c.4986+11A>G (n.4986+11A>G) n.5475+11A>G | |
2 | g.214978794_214978795insCACTTGAAGTCA | CA2567078097 | ABCA12 | c.4977+9_4977+10insTGACTTCAAGTG (n.4977+9_4977+10insTGACTTCAAGTG) c.4023+9_4023+10insTGACTTCAAGTG (n.4023+9_4023+10insTGACTTCAAGTG) n.5277+9_5277+10insTGACTTCAAGTG c.4986+9_4986+10insTGACTTCAAGTG (n.4986+9_4986+10insTGACTTCAAGTG) n.5475+9_5475+10insTGACTTCAAGTG | |
2 | g.214978796A>T | CA2662978130 | ABCA12 | c.4977+8T>A (n.4977+8T>A) c.4023+8T>A (n.4023+8T>A) n.5277+8T>A c.4986+8T>A (n.4986+8T>A) n.5475+8T>A | gnomAD v4 |
2 | g.214978797G>A | CA2662978131 | ABCA12 | c.4977+7C>T (n.4977+7C>T) c.4023+7C>T (n.4023+7C>T) n.5277+7C>T c.4986+7C>T (n.4986+7C>T) n.5475+7C>T | gnomAD v4 |
2 | g.214978797G>T | CA2662978132 | ABCA12 | c.4977+7C>A (n.4977+7C>A) c.4023+7C>A (n.4023+7C>A) n.5277+7C>A c.4986+7C>A (n.4986+7C>A) n.5475+7C>A | gnomAD v4 |
2 | g.214978798G>A | CA2091338 | ABCA12 | c.4977+6C>T (n.4977+6C>T) c.4023+6C>T (n.4023+6C>T) n.5277+6C>T c.4986+6C>T (n.4986+6C>T) n.5475+6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978798G= | CA1327160304 | ABCA12 | c.4977+6C= (n.4977+6C=) c.4023+6C= (n.4023+6C=) n.5277+6C= c.4986+6C= (n.4986+6C=) n.5475+6C= | |
2 | g.214978800A>G | CA2662978136 | ABCA12 | c.4977+4T>C (n.4977+4T>C) c.4023+4T>C (n.4023+4T>C) n.5277+4T>C c.4986+4T>C (n.4986+4T>C) n.5475+4T>C | gnomAD v4 |
2 | g.214978802A>C | CA350459416 | ABCA12 | c.4977+2T>G (n.4977+2T>G) c.4023+2T>G (n.4023+2T>G) n.5277+2T>G c.4986+2T>G (n.4986+2T>G) n.5475+2T>G | |
2 | g.214978802A>G | CA350459418 | ABCA12 | c.4977+2T>C (n.4977+2T>C) c.4023+2T>C (n.4023+2T>C) n.5277+2T>C c.4986+2T>C (n.4986+2T>C) n.5475+2T>C | |
2 | g.214978802A>T | CA350459420 | ABCA12 | c.4977+2T>A (n.4977+2T>A) c.4023+2T>A (n.4023+2T>A) n.5277+2T>A c.4986+2T>A (n.4986+2T>A) n.5475+2T>A | |
2 | g.214978803C>A | CA350459425 | ABCA12 | c.4977+1G>T (n.4977+1G>T) c.4023+1G>T (n.4023+1G>T) n.5277+1G>T c.4986+1G>T (n.4986+1G>T) n.5475+1G>T | |
2 | g.214978803C>G | CA350459424 | ABCA12 | c.4977+1G>C (n.4977+1G>C) c.4023+1G>C (n.4023+1G>C) n.5277+1G>C c.4986+1G>C (n.4986+1G>C) n.5475+1G>C | |
2 | g.214978803C>T | CA350459422 | ABCA12 | c.4977+1G>A (n.4977+1G>A) c.4023+1G>A (n.4023+1G>A) n.5277+1G>A c.4986+1G>A (n.4986+1G>A) n.5475+1G>A | COSMIC COSMIC |
2 | g.214978804C>A | CA350459427 | ABCA12 | c.4977G>T (p.Glu1659Asp) c.4023G>T (p.Glu1341Asp) n.5277G>T c.4986G>T (p.Glu1662Asp) n.5475G>T | |
2 | g.214978804C= | CA1327160305 | ABCA12 | c.4977G= (p.Glu1659=) c.4023G= (p.Glu1341=) n.5277G= c.4986G= (p.Glu1662=) n.5475G= | |
2 | g.214978804C>G | CA350459429 | ABCA12 | c.4977G>C (p.Glu1659Asp) c.4023G>C (p.Glu1341Asp) n.5277G>C c.4986G>C (p.Glu1662Asp) n.5475G>C | |
2 | g.214978804C>T | CA431146918 | ABCA12 | c.4977G>A (p.Glu1659=) c.4023G>A (p.Glu1341=) n.5277G>A c.4986G>A (p.Glu1662=) n.5475G>A | dbSNP gnomAD v4 |
2 | g.214978805T>A | CA350459432 | ABCA12 | c.4976A>T (p.Glu1659Val) c.4022A>T (p.Glu1341Val) n.5276A>T c.4985A>T (p.Glu1662Val) n.5474A>T | |
2 | g.214978805T>C | CA350459435 | ABCA12 | c.4976A>G (p.Glu1659Gly) c.4022A>G (p.Glu1341Gly) n.5276A>G c.4985A>G (p.Glu1662Gly) n.5474A>G | |
2 | g.214978805T>G | CA350459437 | ABCA12 | c.4976A>C (p.Glu1659Ala) c.4022A>C (p.Glu1341Ala) n.5276A>C c.4985A>C (p.Glu1662Ala) n.5474A>C | |
2 | g.214978806C>A | CA350459439 | ABCA12 | c.4975G>T (p.Glu1659Ter) c.4021G>T (p.Glu1341Ter) n.5275G>T c.4984G>T (p.Glu1662Ter) n.5473G>T | |
2 | g.214978806C>G | CA350459441 | ABCA12 | c.4975G>C (p.Glu1659Gln) c.4021G>C (p.Glu1341Gln) n.5275G>C c.4984G>C (p.Glu1662Gln) n.5473G>C | |
2 | g.214978806C>T | CA350459443 | ABCA12 | c.4975G>A (p.Glu1659Lys) c.4021G>A (p.Glu1341Lys) n.5275G>A c.4984G>A (p.Glu1662Lys) n.5473G>A | |
2 | g.214978807C>A | CA350459445 | ABCA12 | c.4974G>T (p.Glu1658Asp) c.4020G>T (p.Glu1340Asp) n.5274G>T c.4983G>T (p.Glu1661Asp) n.5472G>T | |
2 | g.214978807C>G | CA350459447 | ABCA12 | c.4974G>C (p.Glu1658Asp) c.4020G>C (p.Glu1340Asp) n.5274G>C c.4983G>C (p.Glu1661Asp) n.5472G>C | |
2 | g.214978807C>T | CA431146930 | ABCA12 | c.4974G>A (p.Glu1658=) c.4020G>A (p.Glu1340=) n.5274G>A c.4983G>A (p.Glu1661=) n.5472G>A | |
2 | g.214978808T>A | CA350459451 | ABCA12 | c.4973A>T (p.Glu1658Val) c.4019A>T (p.Glu1340Val) n.5273A>T c.4982A>T (p.Glu1661Val) n.5471A>T | |
2 | g.214978808T>C | CA350459453 | ABCA12 | c.4973A>G (p.Glu1658Gly) c.4019A>G (p.Glu1340Gly) n.5273A>G c.4982A>G (p.Glu1661Gly) n.5471A>G | |
2 | g.214978808T>G | CA350459455 | ABCA12 | c.4973A>C (p.Glu1658Ala) c.4019A>C (p.Glu1340Ala) n.5273A>C c.4982A>C (p.Glu1661Ala) n.5471A>C | |
2 | g.214978809C>A | CA350459460 | ABCA12 | c.4972G>T (p.Glu1658Ter) c.4018G>T (p.Glu1340Ter) n.5272G>T c.4981G>T (p.Glu1661Ter) n.5470G>T | |
2 | g.214978809C= | CA1327160306 | ABCA12 | c.4972G= (p.Glu1658=) c.4018G= (p.Glu1340=) n.5272G= c.4981G= (p.Glu1661=) n.5470G= | |
2 | g.214978809C>G | CA350459462 | ABCA12 | c.4972G>C (p.Glu1658Gln) c.4018G>C (p.Glu1340Gln) n.5272G>C c.4981G>C (p.Glu1661Gln) n.5470G>C | dbSNP |
2 | g.214978809C>T | CA350459458 | ABCA12 | c.4972G>A (p.Glu1658Lys) c.4018G>A (p.Glu1340Lys) n.5272G>A c.4981G>A (p.Glu1661Lys) n.5470G>A | dbSNP |
2 | g.214978810C>A | CA431146942 | ABCA12 | c.4971G>T (p.Val1657=) c.4017G>T (p.Val1339=) n.5271G>T c.4980G>T (p.Val1660=) n.5469G>T | |
2 | g.214978810C= | CA1327160307 | ABCA12 | c.4971G= (p.Val1657=) c.4017G= (p.Val1339=) n.5271G= c.4980G= (p.Val1660=) n.5469G= | |
2 | g.214978810C>G | CA431146944 | ABCA12 | c.4971G>C (p.Val1657=) c.4017G>C (p.Val1339=) n.5271G>C c.4980G>C (p.Val1660=) n.5469G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978810C>T | CA431146945 | ABCA12 | c.4971G>A (p.Val1657=) c.4017G>A (p.Val1339=) n.5271G>A c.4980G>A (p.Val1660=) n.5469G>A | |
2 | g.214978811A>C | CA350459465 | ABCA12 | c.4970T>G (p.Val1657Gly) c.4016T>G (p.Val1339Gly) n.5270T>G c.4979T>G (p.Val1660Gly) n.5468T>G | |
2 | g.214978811A>G | CA350459467 | ABCA12 | c.4970T>C (p.Val1657Ala) c.4016T>C (p.Val1339Ala) n.5270T>C c.4979T>C (p.Val1660Ala) n.5468T>C | |
2 | g.214978811A>T | CA350459469 | ABCA12 | c.4970T>A (p.Val1657Glu) c.4016T>A (p.Val1339Glu) n.5270T>A c.4979T>A (p.Val1660Glu) n.5468T>A | |
2 | g.214978812C>A | CA350459471 | ABCA12 | c.4969G>T (p.Val1657Leu) c.4015G>T (p.Val1339Leu) n.5269G>T c.4978G>T (p.Val1660Leu) n.5467G>T | |
2 | g.214978812C= | CA1327160308 | ABCA12 | c.4969G= (p.Val1657=) c.4015G= (p.Val1339=) n.5269G= c.4978G= (p.Val1660=) n.5467G= | |
2 | g.214978812C>G | CA350459473 | ABCA12 | c.4969G>C (p.Val1657Leu) c.4015G>C (p.Val1339Leu) n.5269G>C c.4978G>C (p.Val1660Leu) n.5467G>C | |
2 | g.214978812C>T | CA2091339 | ABCA12 | c.4969G>A (p.Val1657Met) c.4015G>A (p.Val1339Met) n.5269G>A c.4978G>A (p.Val1660Met) n.5467G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978813G>A | CA2091340 | ABCA12 | c.4968C>T (p.Thr1656=) c.4014C>T (p.Thr1338=) n.5268C>T c.4977C>T (p.Thr1659=) n.5466C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214978813G>C | CA431146955 | ABCA12 | c.4968C>G (p.Thr1656=) c.4014C>G (p.Thr1338=) n.5268C>G c.4977C>G (p.Thr1659=) n.5466C>G | |
2 | g.214978813G= | CA1327160309 | ABCA12 | c.4968C= (p.Thr1656=) c.4014C= (p.Thr1338=) n.5268C= c.4977C= (p.Thr1659=) n.5466C= | |
2 | g.214978813G>T | CA431146964 | ABCA12 | c.4968C>A (p.Thr1656=) c.4014C>A (p.Thr1338=) n.5268C>A c.4977C>A (p.Thr1659=) n.5466C>A | |
2 | g.214978814G>A | CA2091341 | ABCA12 | c.4967C>T (p.Thr1656Ile) c.4013C>T (p.Thr1338Ile) n.5267C>T c.4976C>T (p.Thr1659Ile) n.5465C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978814G>C | CA350459477 | ABCA12 | c.4967C>G (p.Thr1656Ser) c.4013C>G (p.Thr1338Ser) n.5267C>G c.4976C>G (p.Thr1659Ser) n.5465C>G | |
2 | g.214978814G= | CA1327160310 | ABCA12 | c.4967C= (p.Thr1656=) c.4013C= (p.Thr1338=) n.5267C= c.4976C= (p.Thr1659=) n.5465C= | |
2 | g.214978814G>T | CA350459480 | ABCA12 | c.4967C>A (p.Thr1656Asn) c.4013C>A (p.Thr1338Asn) n.5267C>A c.4976C>A (p.Thr1659Asn) n.5465C>A | |
2 | g.214978815T>A | CA350459483 | ABCA12 | c.4966A>T (p.Thr1656Ser) c.4012A>T (p.Thr1338Ser) n.5266A>T c.4975A>T (p.Thr1659Ser) n.5464A>T | |
2 | g.214978815T>C | CA350459486 | ABCA12 | c.4966A>G (p.Thr1656Ala) c.4012A>G (p.Thr1338Ala) n.5266A>G c.4975A>G (p.Thr1659Ala) n.5464A>G | |
2 | g.214978815T>G | CA350459488 | ABCA12 | c.4966A>C (p.Thr1656Pro) c.4012A>C (p.Thr1338Pro) n.5266A>C c.4975A>C (p.Thr1659Pro) n.5464A>C | |
2 | g.214978816G>A | CA431146968 | ABCA12 | c.4965C>T (p.Thr1655=) c.4011C>T (p.Thr1337=) n.5265C>T c.4974C>T (p.Thr1658=) n.5463C>T | gnomAD v4 |
2 | g.214978816G>C | CA431146971 | ABCA12 | c.4965C>G (p.Thr1655=) c.4011C>G (p.Thr1337=) n.5265C>G c.4974C>G (p.Thr1658=) n.5463C>G | |
2 | g.214978816G>T | CA431146978 | ABCA12 | c.4965C>A (p.Thr1655=) c.4011C>A (p.Thr1337=) n.5265C>A c.4974C>A (p.Thr1658=) n.5463C>A | |
2 | g.214978817G>A | CA350459491 | ABCA12 | c.4964C>T (p.Thr1655Ile) c.4010C>T (p.Thr1337Ile) n.5264C>T c.4973C>T (p.Thr1658Ile) n.5462C>T | |
2 | g.214978817G>C | CA350459495 | ABCA12 | c.4964C>G (p.Thr1655Ser) c.4010C>G (p.Thr1337Ser) n.5264C>G c.4973C>G (p.Thr1658Ser) n.5462C>G | |
2 | g.214978817G>T | CA350459493 | ABCA12 | c.4964C>A (p.Thr1655Asn) c.4010C>A (p.Thr1337Asn) n.5264C>A c.4973C>A (p.Thr1658Asn) n.5462C>A | |
2 | g.214978818T>A | CA350459498 | ABCA12 | c.4963A>T (p.Thr1655Ser) c.4009A>T (p.Thr1337Ser) n.5263A>T c.4972A>T (p.Thr1658Ser) n.5461A>T | |
2 | g.214978818T>C | CA350459500 | ABCA12 | c.4963A>G (p.Thr1655Ala) c.4009A>G (p.Thr1337Ala) n.5263A>G c.4972A>G (p.Thr1658Ala) n.5461A>G | |
2 | g.214978818T>G | CA350459502 | ABCA12 | c.4963A>C (p.Thr1655Pro) c.4009A>C (p.Thr1337Pro) n.5263A>C c.4972A>C (p.Thr1658Pro) n.5461A>C | |
2 | g.214978819A>C | CA350459504 | ABCA12 | c.4962T>G (p.Asp1654Glu) c.4008T>G (p.Asp1336Glu) n.5262T>G c.4971T>G (p.Asp1657Glu) n.5460T>G | |
2 | g.214978819A>G | CA431146993 | ABCA12 | c.4962T>C (p.Asp1654=) c.4008T>C (p.Asp1336=) n.5262T>C c.4971T>C (p.Asp1657=) n.5460T>C | |
2 | g.214978819A>T | CA350459506 | ABCA12 | c.4962T>A (p.Asp1654Glu) c.4008T>A (p.Asp1336Glu) n.5262T>A c.4971T>A (p.Asp1657Glu) n.5460T>A | |
2 | g.214978820T>A | CA350459509 | ABCA12 | c.4961A>T (p.Asp1654Val) c.4007A>T (p.Asp1336Val) n.5261A>T c.4970A>T (p.Asp1657Val) n.5459A>T | |
2 | g.214978820T>C | CA350459511 | ABCA12 | c.4961A>G (p.Asp1654Gly) c.4007A>G (p.Asp1336Gly) n.5261A>G c.4970A>G (p.Asp1657Gly) n.5459A>G | gnomAD v4 |
2 | g.214978820T>G | CA350459513 | ABCA12 | c.4961A>C (p.Asp1654Ala) c.4007A>C (p.Asp1336Ala) n.5261A>C c.4970A>C (p.Asp1657Ala) n.5459A>C | |
2 | g.214978821C>A | CA350459516 | ABCA12 | c.4960G>T (p.Asp1654Tyr) c.4006G>T (p.Asp1336Tyr) n.5260G>T c.4969G>T (p.Asp1657Tyr) n.5458G>T | |
2 | g.214978821C>G | CA350459518 | ABCA12 | c.4960G>C (p.Asp1654His) c.4006G>C (p.Asp1336His) n.5260G>C c.4969G>C (p.Asp1657His) n.5458G>C | |
2 | g.214978821C>T | CA350459520 | ABCA12 | c.4960G>A (p.Asp1654Asn) c.4006G>A (p.Asp1336Asn) n.5260G>A c.4969G>A (p.Asp1657Asn) n.5458G>A | |
2 | g.214978822T>A | CA431147006 | ABCA12 | c.4959A>T (p.Ser1653=) c.4005A>T (p.Ser1335=) n.5259A>T c.4968A>T (p.Ser1656=) n.5457A>T | |
2 | g.214978822T>C | CA431147008 | ABCA12 | c.4959A>G (p.Ser1653=) c.4005A>G (p.Ser1335=) n.5259A>G c.4968A>G (p.Ser1656=) n.5457A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978822T>G | CA431147010 | ABCA12 | c.4959A>C (p.Ser1653=) c.4005A>C (p.Ser1335=) n.5259A>C c.4968A>C (p.Ser1656=) n.5457A>C | |
2 | g.214978822T= | CA1327160311 | ABCA12 | c.4959A= (p.Ser1653=) c.4005A= (p.Ser1335=) n.5259A= c.4968A= (p.Ser1656=) n.5457A= | |
2 | g.214978823G>A | CA350459525 | ABCA12 | c.4958C>T (p.Ser1653Leu) c.4004C>T (p.Ser1335Leu) n.5258C>T c.4967C>T (p.Ser1656Leu) n.5456C>T | |
2 | g.214978823G>C | CA350459527 | ABCA12 | c.4958C>G (p.Ser1653Ter) c.4004C>G (p.Ser1335Ter) n.5258C>G c.4967C>G (p.Ser1656Ter) n.5456C>G | |
2 | g.214978823G>T | CA350459523 | ABCA12 | c.4958C>A (p.Ser1653Ter) c.4004C>A (p.Ser1335Ter) n.5258C>A c.4967C>A (p.Ser1656Ter) n.5456C>A | |
2 | g.214978824A>C | CA350459528 | ABCA12 | c.4957T>G (p.Ser1653Ala) c.4003T>G (p.Ser1335Ala) n.5257T>G c.4966T>G (p.Ser1656Ala) n.5455T>G | |
2 | g.214978824A>G | CA350459532 | ABCA12 | c.4957T>C (p.Ser1653Pro) c.4003T>C (p.Ser1335Pro) n.5257T>C c.4966T>C (p.Ser1656Pro) n.5455T>C | |
2 | g.214978824A>T | CA350459534 | ABCA12 | c.4957T>A (p.Ser1653Thr) c.4003T>A (p.Ser1335Thr) n.5257T>A c.4966T>A (p.Ser1656Thr) n.5455T>A | |
2 | g.214978825A>C | CA350459537 | ABCA12 | c.4956T>G (p.Ile1652Met) c.4002T>G (p.Ile1334Met) n.5256T>G c.4965T>G (p.Ile1655Met) n.5454T>G | |
2 | g.214978825A>G | CA431147025 | ABCA12 | c.4956T>C (p.Ile1652=) c.4002T>C (p.Ile1334=) n.5256T>C c.4965T>C (p.Ile1655=) n.5454T>C | |
2 | g.214978825A>T | CA431147023 | ABCA12 | c.4956T>A (p.Ile1652=) c.4002T>A (p.Ile1334=) n.5256T>A c.4965T>A (p.Ile1655=) n.5454T>A | |
2 | g.214978826A>C | CA350459539 | ABCA12 | c.4955T>G (p.Ile1652Ser) c.4001T>G (p.Ile1334Ser) n.5255T>G c.4964T>G (p.Ile1655Ser) n.5453T>G | |
2 | g.214978826A>G | CA350459540 | ABCA12 | c.4955T>C (p.Ile1652Thr) c.4001T>C (p.Ile1334Thr) n.5255T>C c.4964T>C (p.Ile1655Thr) n.5453T>C | gnomAD v4 |
2 | g.214978826A>T | CA350459542 | ABCA12 | c.4955T>A (p.Ile1652Asn) c.4001T>A (p.Ile1334Asn) n.5255T>A c.4964T>A (p.Ile1655Asn) n.5453T>A | |
2 | g.214978827T>A | CA350459545 | ABCA12 | c.4954A>T (p.Ile1652Phe) c.4000A>T (p.Ile1334Phe) n.5254A>T c.4963A>T (p.Ile1655Phe) n.5452A>T | |
2 | g.214978827T>C | CA350459547 | ABCA12 | c.4954A>G (p.Ile1652Val) c.4000A>G (p.Ile1334Val) n.5254A>G c.4963A>G (p.Ile1655Val) n.5452A>G | |
2 | g.214978827T>G | CA350459549 | ABCA12 | c.4954A>C (p.Ile1652Leu) c.4000A>C (p.Ile1334Leu) n.5254A>C c.4963A>C (p.Ile1655Leu) n.5452A>C | |
2 | g.214978828G>A | CA431147041 | ABCA12 | c.4953C>T (p.Gly1651=) c.3999C>T (p.Gly1333=) n.5253C>T c.4962C>T (p.Gly1654=) n.5451C>T | |
2 | g.214978828G>C | CA431147044 | ABCA12 | c.4953C>G (p.Gly1651=) c.3999C>G (p.Gly1333=) n.5253C>G c.4962C>G (p.Gly1654=) n.5451C>G | |
2 | g.214978828G>T | CA431147047 | ABCA12 | c.4953C>A (p.Gly1651=) c.3999C>A (p.Gly1333=) n.5253C>A c.4962C>A (p.Gly1654=) n.5451C>A | |
2 | g.214978829C>A | CA350459550 | ABCA12 | c.4952G>T (p.Gly1651Val) c.3998G>T (p.Gly1333Val) n.5252G>T c.4961G>T (p.Gly1654Val) n.5450G>T | |
2 | g.214978829C= | CA1327160312 | ABCA12 | c.4952G= (p.Gly1651=) c.3998G= (p.Gly1333=) n.5252G= c.4961G= (p.Gly1654=) n.5450G= | |
2 | g.214978829C>G | CA350459553 | ABCA12 | c.4952G>C (p.Gly1651Ala) c.3998G>C (p.Gly1333Ala) n.5252G>C c.4961G>C (p.Gly1654Ala) n.5450G>C | |
2 | g.214978829C>T | CA350459555 | ABCA12 | c.4952G>A (p.Gly1651Asp) c.3998G>A (p.Gly1333Asp) n.5252G>A c.4961G>A (p.Gly1654Asp) n.5450G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214978830C>A | CA350459561 | ABCA12 | c.4951G>T (p.Gly1651Cys) c.3997G>T (p.Gly1333Cys) n.5251G>T c.4960G>T (p.Gly1654Cys) n.5449G>T | |
2 | g.214978830C= | CA1327160313 | ABCA12 | c.4951G= (p.Gly1651=) c.3997G= (p.Gly1333=) n.5251G= c.4960G= (p.Gly1654=) n.5449G= | |
2 | g.214978830C>G | CA350459559 | ABCA12 | c.4951G>C (p.Gly1651Arg) c.3997G>C (p.Gly1333Arg) n.5251G>C c.4960G>C (p.Gly1654Arg) n.5449G>C | |
2 | g.214978830C>T | CA252476 | ABCA12 | c.4951G>A (p.Gly1651Ser) c.3997G>A (p.Gly1333Ser) n.5251G>A c.4960G>A (p.Gly1654Ser) n.5449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978831G>A | CA2091342 | ABCA12 | c.4950C>T (p.Tyr1650=) c.3996C>T (p.Tyr1332=) n.5250C>T c.4959C>T (p.Tyr1653=) n.5448C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.214978831G>C | CA350459564 | ABCA12 | c.4950C>G (p.Tyr1650Ter) c.3996C>G (p.Tyr1332Ter) n.5250C>G c.4959C>G (p.Tyr1653Ter) n.5448C>G | |
2 | g.214978831G= | CA1327160314 | ABCA12 | c.4950C= (p.Tyr1650=) c.3996C= (p.Tyr1332=) n.5250C= c.4959C= (p.Tyr1653=) n.5448C= | |
2 | g.214978831G>T | CA350459566 | ABCA12 | c.4950C>A (p.Tyr1650Ter) c.3996C>A (p.Tyr1332Ter) n.5250C>A c.4959C>A (p.Tyr1653Ter) n.5448C>A | |
2 | g.214978832T>A | CA350459569 | ABCA12 | c.4949A>T (p.Tyr1650Phe) c.3995A>T (p.Tyr1332Phe) n.5249A>T c.4958A>T (p.Tyr1653Phe) n.5447A>T | |
2 | g.214978832T>C | CA2091343 | ABCA12 | c.4949A>G (p.Tyr1650Cys) c.3995A>G (p.Tyr1332Cys) n.5249A>G c.4958A>G (p.Tyr1653Cys) n.5447A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978832T>G | CA350459572 | ABCA12 | c.4949A>C (p.Tyr1650Ser) c.3995A>C (p.Tyr1332Ser) n.5249A>C c.4958A>C (p.Tyr1653Ser) n.5447A>C | |
2 | g.214978832T= | CA1327160315 | ABCA12 | c.4949A= (p.Tyr1650=) c.3995A= (p.Tyr1332=) n.5249A= c.4958A= (p.Tyr1653=) n.5447A= | |
2 | g.214978833A>C | CA350459575 | ABCA12 | c.4948T>G (p.Tyr1650Asp) c.3994T>G (p.Tyr1332Asp) n.5248T>G c.4957T>G (p.Tyr1653Asp) n.5446T>G | |
2 | g.214978833A>G | CA350459577 | ABCA12 | c.4948T>C (p.Tyr1650His) c.3994T>C (p.Tyr1332His) n.5248T>C c.4957T>C (p.Tyr1653His) n.5446T>C | |
2 | g.214978833A>T | CA350459580 | ABCA12 | c.4948T>A (p.Tyr1650Asn) c.3994T>A (p.Tyr1332Asn) n.5248T>A c.4957T>A (p.Tyr1653Asn) n.5446T>A | |
2 | g.214978834G>A | CA431147079 | ABCA12 | c.4947C>T (p.Cys1649=) c.3993C>T (p.Cys1331=) n.5247C>T c.4956C>T (p.Cys1652=) n.5445C>T | ClinVar gnomAD v4 |
2 | g.214978834G>C | CA350459582 | ABCA12 | c.4947C>G (p.Cys1649Trp) c.3993C>G (p.Cys1331Trp) n.5247C>G c.4956C>G (p.Cys1652Trp) n.5445C>G | |
2 | g.214978834G>T | CA350459583 | ABCA12 | c.4947C>A (p.Cys1649Ter) c.3993C>A (p.Cys1331Ter) n.5247C>A c.4956C>A (p.Cys1652Ter) n.5445C>A | |
2 | g.214978835C>A | CA350459585 | ABCA12 | c.4946G>T (p.Cys1649Phe) c.3992G>T (p.Cys1331Phe) n.5246G>T c.4955G>T (p.Cys1652Phe) n.5444G>T | |
2 | g.214978835C= | CA1327160316 | ABCA12 | c.4946G= (p.Cys1649=) c.3992G= (p.Cys1331=) n.5246G= c.4955G= (p.Cys1652=) n.5444G= | |
2 | g.214978835C>G | CA350459587 | ABCA12 | c.4946G>C (p.Cys1649Ser) c.3992G>C (p.Cys1331Ser) n.5246G>C c.4955G>C (p.Cys1652Ser) n.5444G>C | |
2 | g.214978835C>T | CA2091344 | ABCA12 | c.4946G>A (p.Cys1649Tyr) c.3992G>A (p.Cys1331Tyr) n.5246G>A c.4955G>A (p.Cys1652Tyr) n.5444G>A | dbSNP ExAC |
2 | g.214978836A= | CA1327160317 | ABCA12 | c.4945T= (p.Cys1649=) c.3991T= (p.Cys1331=) n.5245T= c.4954T= (p.Cys1652=) n.5443T= | |
2 | g.214978836A>C | CA350459592 | ABCA12 | c.4945T>G (p.Cys1649Gly) c.3991T>G (p.Cys1331Gly) n.5245T>G c.4954T>G (p.Cys1652Gly) n.5443T>G | |
2 | g.214978836A>G | CA350459593 | ABCA12 | c.4945T>C (p.Cys1649Arg) c.3991T>C (p.Cys1331Arg) n.5245T>C c.4954T>C (p.Cys1652Arg) n.5443T>C | |
2 | g.214978836A>T | CA350459591 | ABCA12 | c.4945T>A (p.Cys1649Ser) c.3991T>A (p.Cys1331Ser) n.5245T>A c.4954T>A (p.Cys1652Ser) n.5443T>A | dbSNP |
2 | g.214978837C>A | CA431147099 | ABCA12 | c.4944G>T (p.Gly1648=) c.3990G>T (p.Gly1330=) n.5244G>T c.4953G>T (p.Gly1651=) n.5442G>T | |
2 | g.214978837C>G | CA431147102 | ABCA12 | c.4944G>C (p.Gly1648=) c.3990G>C (p.Gly1330=) n.5244G>C c.4953G>C (p.Gly1651=) n.5442G>C | |
2 | g.214978837C>T | CA431147105 | ABCA12 | c.4944G>A (p.Gly1648=) c.3990G>A (p.Gly1330=) n.5244G>A c.4953G>A (p.Gly1651=) n.5442G>A | |
2 | g.214978838C>A | CA64813546 | ABCA12 | c.4943G>T (p.Gly1648Val) c.3989G>T (p.Gly1330Val) n.5243G>T c.4952G>T (p.Gly1651Val) n.5441G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978838C= | CA1327160318 | ABCA12 | c.4943G= (p.Gly1648=) c.3989G= (p.Gly1330=) n.5243G= c.4952G= (p.Gly1651=) n.5441G= | |
2 | g.214978838C>G | CA350459597 | ABCA12 | c.4943G>C (p.Gly1648Ala) c.3989G>C (p.Gly1330Ala) n.5243G>C c.4952G>C (p.Gly1651Ala) n.5441G>C | |
2 | g.214978838C>T | CA350459598 | ABCA12 | c.4943G>A (p.Gly1648Glu) c.3989G>A (p.Gly1330Glu) n.5243G>A c.4952G>A (p.Gly1651Glu) n.5441G>A | COSMIC COSMIC |
2 | g.214978839C>A | CA350459600 | ABCA12 | c.4942G>T (p.Gly1648Trp) c.3988G>T (p.Gly1330Trp) n.5242G>T c.4951G>T (p.Gly1651Trp) n.5440G>T | |
2 | g.214978839C= | CA1327160319 | ABCA12 | c.4942G= (p.Gly1648=) c.3988G= (p.Gly1330=) n.5242G= c.4951G= (p.Gly1651=) n.5440G= | |
2 | g.214978839C>G | CA350459602 | ABCA12 | c.4942G>C (p.Gly1648Arg) c.3988G>C (p.Gly1330Arg) n.5242G>C c.4951G>C (p.Gly1651Arg) n.5440G>C | |
2 | g.214978839C>T | CA2091345 | ABCA12 | c.4942G>A (p.Gly1648Arg) c.3988G>A (p.Gly1330Arg) n.5242G>A c.4951G>A (p.Gly1651Arg) n.5440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978840G>A | CA2091346 | ABCA12 | c.4941C>T (p.Ile1647=) c.3987C>T (p.Ile1329=) n.5241C>T c.4950C>T (p.Ile1650=) n.5439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.214978840G>C | CA350459607 | ABCA12 | c.4941C>G (p.Ile1647Met) c.3987C>G (p.Ile1329Met) n.5241C>G c.4950C>G (p.Ile1650Met) n.5439C>G | |
2 | g.214978840G= | CA1327160320 | ABCA12 | c.4941C= (p.Ile1647=) c.3987C= (p.Ile1329=) n.5241C= c.4950C= (p.Ile1650=) n.5439C= | |
2 | g.214978840G>T | CA431147118 | ABCA12 | c.4941C>A (p.Ile1647=) c.3987C>A (p.Ile1329=) n.5241C>A c.4950C>A (p.Ile1650=) n.5439C>A | |
2 | g.214978841A>C | CA350459610 | ABCA12 | c.4940T>G (p.Ile1647Ser) c.3986T>G (p.Ile1329Ser) n.5240T>G c.4949T>G (p.Ile1650Ser) n.5438T>G | COSMIC |
2 | g.214978841A>G | CA350459612 | ABCA12 | c.4940T>C (p.Ile1647Thr) c.3986T>C (p.Ile1329Thr) n.5240T>C c.4949T>C (p.Ile1650Thr) n.5438T>C | |
2 | g.214978841A>T | CA350459614 | ABCA12 | c.4940T>A (p.Ile1647Asn) c.3986T>A (p.Ile1329Asn) n.5240T>A c.4949T>A (p.Ile1650Asn) n.5438T>A | |
2 | g.214978842T>A | CA350459621 | ABCA12 | c.4939A>T (p.Ile1647Phe) c.3985A>T (p.Ile1329Phe) n.5239A>T c.4948A>T (p.Ile1650Phe) n.5437A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214978842T>C | CA350459626 | ABCA12 | c.4939A>G (p.Ile1647Val) c.3985A>G (p.Ile1329Val) n.5239A>G c.4948A>G (p.Ile1650Val) n.5437A>G | |
2 | g.214978842T>G | CA350459627 | ABCA12 | c.4939A>C (p.Ile1647Leu) c.3985A>C (p.Ile1329Leu) n.5239A>C c.4948A>C (p.Ile1650Leu) n.5437A>C | |
2 | g.214978842T= | CA1327160321 | ABCA12 | c.4939A= (p.Ile1647=) c.3985A= (p.Ile1329=) n.5239A= c.4948A= (p.Ile1650=) n.5437A= | |
2 | g.214978843G>A | CA431147131 | ABCA12 | c.4938C>T (p.Asn1646=) c.3984C>T (p.Asn1328=) n.5238C>T c.4947C>T (p.Asn1649=) n.5436C>T | dbSNP gnomAD v4 |
2 | g.214978843G>C | CA350459630 | ABCA12 | c.4938C>G (p.Asn1646Lys) c.3984C>G (p.Asn1328Lys) n.5238C>G c.4947C>G (p.Asn1649Lys) n.5436C>G | |
2 | g.214978843G= | CA1327160322 | ABCA12 | c.4938C= (p.Asn1646=) c.3984C= (p.Asn1328=) n.5238C= c.4947C= (p.Asn1649=) n.5436C= | |
2 | g.214978843G>T | CA350459631 | ABCA12 | c.4938C>A (p.Asn1646Lys) c.3984C>A (p.Asn1328Lys) n.5238C>A c.4947C>A (p.Asn1649Lys) n.5436C>A | |
2 | g.214978844T>A | CA350459634 | ABCA12 | c.4937A>T (p.Asn1646Ile) c.3983A>T (p.Asn1328Ile) n.5237A>T c.4946A>T (p.Asn1649Ile) n.5435A>T | |
2 | g.214978844T>C | CA350459636 | ABCA12 | c.4937A>G (p.Asn1646Ser) c.3983A>G (p.Asn1328Ser) n.5237A>G c.4946A>G (p.Asn1649Ser) n.5435A>G | |
2 | g.214978844T>G | CA350459637 | ABCA12 | c.4937A>C (p.Asn1646Thr) c.3983A>C (p.Asn1328Thr) n.5237A>C c.4946A>C (p.Asn1649Thr) n.5435A>C | |
2 | g.214978845T>A | CA350459640 | ABCA12 | c.4936A>T (p.Asn1646Tyr) c.3982A>T (p.Asn1328Tyr) n.5236A>T c.4945A>T (p.Asn1649Tyr) n.5434A>T | |
2 | g.214978845T>C | CA350459642 | ABCA12 | c.4936A>G (p.Asn1646Asp) c.3982A>G (p.Asn1328Asp) n.5236A>G c.4945A>G (p.Asn1649Asp) n.5434A>G | |
2 | g.214978845T>G | CA350459644 | ABCA12 | c.4936A>C (p.Asn1646His) c.3982A>C (p.Asn1328His) n.5236A>C c.4945A>C (p.Asn1649His) n.5434A>C | |
2 | g.214978846G>A | CA431147151 | ABCA12 | c.4935C>T (p.Leu1645=) c.3981C>T (p.Leu1327=) n.5235C>T c.4944C>T (p.Leu1648=) n.5433C>T | |
2 | g.214978846G>C | CA431147157 | ABCA12 | c.4935C>G (p.Leu1645=) c.3981C>G (p.Leu1327=) n.5235C>G c.4944C>G (p.Leu1648=) n.5433C>G | |
2 | g.214978846G>T | CA431147154 | ABCA12 | c.4935C>A (p.Leu1645=) c.3981C>A (p.Leu1327=) n.5235C>A c.4944C>A (p.Leu1648=) n.5433C>A | |
2 | g.214978847A= | CA1327160323 | ABCA12 | c.4934T= (p.Leu1645=) c.3980T= (p.Leu1327=) n.5234T= c.4943T= (p.Leu1648=) n.5432T= | |
2 | g.214978847A>C | CA350459647 | ABCA12 | c.4934T>G (p.Leu1645Arg) c.3980T>G (p.Leu1327Arg) n.5234T>G c.4943T>G (p.Leu1648Arg) n.5432T>G | |
2 | g.214978847A>G | CA350459649 | ABCA12 | c.4934T>C (p.Leu1645Pro) c.3980T>C (p.Leu1327Pro) n.5234T>C c.4943T>C (p.Leu1648Pro) n.5432T>C | |
2 | g.214978847A>T | CA2091347 | ABCA12 | c.4934T>A (p.Leu1645His) c.3980T>A (p.Leu1327His) n.5234T>A c.4943T>A (p.Leu1648His) n.5432T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978848G>A | CA350459653 | ABCA12 | c.4933C>T (p.Leu1645Phe) c.3979C>T (p.Leu1327Phe) n.5233C>T c.4942C>T (p.Leu1648Phe) n.5431C>T | |
2 | g.214978848G>C | CA350459655 | ABCA12 | c.4933C>G (p.Leu1645Val) c.3979C>G (p.Leu1327Val) n.5233C>G c.4942C>G (p.Leu1648Val) n.5431C>G | |
2 | g.214978848G>T | CA350459656 | ABCA12 | c.4933C>A (p.Leu1645Ile) c.3979C>A (p.Leu1327Ile) n.5233C>A c.4942C>A (p.Leu1648Ile) n.5431C>A | |
2 | g.214978849G>A | CA2091348 | ABCA12 | c.4932C>T (p.Asp1644=) c.3978C>T (p.Asp1326=) n.5232C>T c.4941C>T (p.Asp1647=) n.5430C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214978849G>C | CA350459660 | ABCA12 | c.4932C>G (p.Asp1644Glu) c.3978C>G (p.Asp1326Glu) n.5232C>G c.4941C>G (p.Asp1647Glu) n.5430C>G | |
2 | g.214978849G= | CA1327160324 | ABCA12 | c.4932C= (p.Asp1644=) c.3978C= (p.Asp1326=) n.5232C= c.4941C= (p.Asp1647=) n.5430C= | |
2 | g.214978849G>T | CA350459661 | ABCA12 | c.4932C>A (p.Asp1644Glu) c.3978C>A (p.Asp1326Glu) n.5232C>A c.4941C>A (p.Asp1647Glu) n.5430C>A | |
2 | g.214978850T>A | CA350459665 | ABCA12 | c.4931A>T (p.Asp1644Val) c.3977A>T (p.Asp1326Val) n.5231A>T c.4940A>T (p.Asp1647Val) n.5429A>T | |
2 | g.214978850T>C | CA350459669 | ABCA12 | c.4931A>G (p.Asp1644Gly) c.3977A>G (p.Asp1326Gly) n.5231A>G c.4940A>G (p.Asp1647Gly) n.5429A>G | |
2 | g.214978850T>G | CA350459667 | ABCA12 | c.4931A>C (p.Asp1644Ala) c.3977A>C (p.Asp1326Ala) n.5231A>C c.4940A>C (p.Asp1647Ala) n.5429A>C | |
2 | g.214978851C>A | CA350459673 | ABCA12 | c.4930G>T (p.Asp1644Tyr) c.3976G>T (p.Asp1326Tyr) n.5230G>T c.4939G>T (p.Asp1647Tyr) n.5428G>T | gnomAD v4 |
2 | g.214978851C= | CA1327160325 | ABCA12 | c.4930G= (p.Asp1644=) c.3976G= (p.Asp1326=) n.5230G= c.4939G= (p.Asp1647=) n.5428G= | |
2 | g.214978851C>G | CA64813589 | ABCA12 | c.4930G>C (p.Asp1644His) c.3976G>C (p.Asp1326His) n.5230G>C c.4939G>C (p.Asp1647His) n.5428G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214978851C>T | CA350459675 | ABCA12 | c.4930G>A (p.Asp1644Asn) c.3976G>A (p.Asp1326Asn) n.5230G>A c.4939G>A (p.Asp1647Asn) n.5428G>A | gnomAD v4 |
2 | g.214978852A>C | CA431147189 | ABCA12 | c.4929T>G (p.Gly1643=) c.3975T>G (p.Gly1325=) n.5229T>G c.4938T>G (p.Gly1646=) n.5427T>G | |
2 | g.214978852A>G | CA431147192 | ABCA12 | c.4929T>C (p.Gly1643=) c.3975T>C (p.Gly1325=) n.5229T>C c.4938T>C (p.Gly1646=) n.5427T>C | |
2 | g.214978852A>T | CA431147194 | ABCA12 | c.4929T>A (p.Gly1643=) c.3975T>A (p.Gly1325=) n.5229T>A c.4938T>A (p.Gly1646=) n.5427T>A |